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
GEN1	348654	broad.mit.edu	37	2	17950072	17950072	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:17950072T>G	uc002rct.2	+	5	777	c.704T>G	c.(703-705)cTt>cGt	p.L235R	SMC6_uc010exo.3_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.L235R|GEN1_uc002rcu.2_Missense_Mutation_p.L235R	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Homo sapiens Gen endonuclease homolog 1 (Drosophila) (GEN1), transcript variant 1, mRNA.	235					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CAAAGTTTACTTCAGAGGTAA	0.323000								Homologous recombination						17			11		0	0	0.000978	0	0
RYR2	6262	broad.mit.edu	37	1	237494187	237494187	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:237494187C>T	uc001hyl.1	+	2	298	c.178C>T	c.(178-180)Cca>Tca	p.P60S	RYR2_uc021pkx.1_Non-coding_Transcript|RYR2_uc021pky.1_Non-coding_Transcript	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	60					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)			GAATGTGCCCCCAGACCTCTC	0.542000														46			13		0	0	0.002450	0	0
SCNN1B	6338	broad.mit.edu	37	16	23387119	23387119	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:23387119C>T	uc002dln.3	+	7	1389	c.1213C>T	c.(1213-1215)Ctg>Ttg	p.L405L		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	405					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TGGCCACTACCTGTACCCACT	0.612000														41			14		0	0	0.001855	0	0
KIAA1377	57562	broad.mit.edu	37	11	101815013	101815013	+	Missense_Mutation	SNP	G	A	A	rs145886481		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:101815013G>A	uc001pgm.3	+	2	536	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	KIAA1377_uc001pgn.3_Missense_Mutation_p.R45Q|KIAA1377_uc009yxa.1_5'UTR	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	89							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)		GAGGAGAAACGAAAAGAACAG	0.313000														12			10		0	0	0.006214	0	0
OC90	729330	broad.mit.edu	37	8	133044178	133044178	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:133044178G>A	uc003ytg.2	-	10	981	c.981C>T	c.(979-981)ggC>ggT	p.G327G	OC90_uc011lix.1_Silent_p.G327G	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	343	Phospholipase A2-like 2.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CACAGTAACAGCCATAAGACT	0.542000														32			19		0	0	0.007413	0	0
ODZ4	26011	broad.mit.edu	37	11	78383364	78383364	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:78383364C>T	uc001ozl.4	-	30	5970	c.5507G>A	c.(5506-5508)cGa>cAa	p.R1836Q	ODZ4_uc001ozk.4_Missense_Mutation_p.R61Q	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1836					signal transduction	integral to membrane		p.R1836*(1)|p.N1835I(1)		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						TAGGAGATTTCGGTTGTGAAC	0.502000														66			5		0	0	0.001984	0	0
HYDIN	54768	broad.mit.edu	37	16	70977742	70977742	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:70977742G>A	uc002ezr.3	-	41	6790	c.6639C>T	c.(6637-6639)ctC>ctT	p.L2213L		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2214										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)				GGATCTGCACGAGAAGTTCAT	0.642000														22			6		0	0	0.001168	0	0
SLC6A9	6536	broad.mit.edu	37	1	44468196	44468196	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:44468196G>A	uc001cll.3	-	6	1257	c.1065C>T	c.(1063-1065)atC>atT	p.I355I	SLC6A9_uc009vxe.2_Silent_p.I211I|SLC6A9_uc010okm.1_Silent_p.I282I|SLC6A9_uc001clm.3_Silent_p.I301I|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Silent_p.I286I|SLC6A9_uc010oko.2_Silent_p.I171I|SLC6A9_uc001cln.3_Silent_p.I282I|SLC6A9_uc010okp.1_Non-coding_Transcript	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	355						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TGGCCTCCAGGATCTTGTCCC	0.632000														42			11		0	0	0.001368	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357193	36357193	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:36357193C>T	uc002ocb.4	+	14	2138	c.1926C>T	c.(1924-1926)ttC>ttT	p.F642F	KIRREL2_uc002obz.4_Intron|KIRREL2_uc002oca.4_Intron|KIRREL2_uc002ocd.4_Silent_p.F604F|APLP1_uc010xsz.2_5'Flank|APLP1_uc002oce.3_5'Flank|APLP1_uc002ocf.3_5'Flank|APLP1_uc002ocg.3_5'Flank	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	642	Pro-rich.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCTATGACTTCAACCCACACC	0.617000														44			18		0	0	0.004990	0	0
THSD7A	221981	broad.mit.edu	37	7	11633072	11633072	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:11633072C>G	uc021zzo.1	-	2	1332	c.1080G>C	c.(1078-1080)gaG>gaC	p.E360D	THSD7A_uc021zzn.1_Missense_Mutation_p.E360D	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	360	TSP type-1 3.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AAACCTGGCACTCTTTGGTGA	0.507000										HNSCC(18;0.044)				49			42		0	0	0.008740	0	0
ZEB1	6935	broad.mit.edu	37	10	31812998	31812998	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:31812998C>T	uc001ivs.4	+	7	2802	c.2739C>T	c.(2737-2739)ttC>ttT	p.F913F	ZEB1_uc001ivr.4_Silent_p.F695F|ZEB1_uc010qef.2_Silent_p.F695F|ZEB1_uc009xlk.1_Silent_p.F695F|ZEB1_uc001ivu.4_Silent_p.F914F|ZEB1_uc010qeh.2_Silent_p.F846F|ZEB1_uc001ivv.4_Silent_p.F893F|ZEB1_uc001ivt.4_Silent_p.F695F|ZEB1_uc009xlo.2_Silent_p.F896F|ZEB1_uc009xlp.3_Silent_p.F897F	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	913					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ACAAGATATTCCAAAAGAGTA	0.358000														46			11		0	0	0.001368	0	0
CLDN25	644672	broad.mit.edu	37	11	113650814	113650814	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:113650814C>T	uc009yyw.1	+	0	297	c.297C>T	c.(295-297)agC>agT	p.S99S		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	Homo sapiens claudin 25 (CLDN25), mRNA.	99						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						TGCTCTGCAGCTTTGGGTCTG	0.557000														104			59		0	0	0.003610	0	0
ADAM15	8751	broad.mit.edu	37	1	155028619	155028619	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:155028619C>T	uc001fgr.1	+	8	909	c.808C>T	c.(808-810)Ctg>Ttg	p.L270L	LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_Non-coding_Transcript|ADAM15_uc010pet.1_Silent_p.L254L|ADAM15_uc010peu.1_Silent_p.L287L|ADAM15_uc001fgx.1_Silent_p.L270L|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Silent_p.L270L|ADAM15_uc001fgs.1_Silent_p.L270L|ADAM15_uc010pev.1_Silent_p.L280L|ADAM15_uc001fgu.1_Silent_p.L270L|ADAM15_uc001fgv.1_Silent_p.L270L|ADAM15_uc001fgw.1_Silent_p.L270L	NM_207197	NP_997080	Q13444	ADA15_HUMAN	Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA.	270	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCAGCGTGACCTGGTGGAGAT	0.602000														41			16		0	0	0.006122	0	0
CD2	914	broad.mit.edu	37	1	117307147	117307147	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:117307147G>A	uc001egu.4	+	3	684	c.655G>A	c.(655-657)Gga>Aga	p.G219R	CD2_uc010owz.1_Missense_Mutation_p.G219R|CD2_uc010oxa.1_Silent_p.E161E	NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	219					T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CATATGTGGAGGAGGCAGCCT	0.493000														39			24		0	0	0.008361	0	0
SCTR	6344	broad.mit.edu	37	2	120223413	120223413	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:120223413G>A	uc002tma.3	-	4	681	c.455C>T	c.(454-456)tCc>tTc	p.S152F	SCTR_uc002tlz.3_Intron	NM_002980	NP_002971	P47872	SCTR_HUMAN	Homo sapiens secretin receptor (SCTR), mRNA.	152					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GACCAGGGAGGAGCTGTAGCC	0.612000														50			17		0	0	0.001882	0	0
OR8S1	341568	broad.mit.edu	37	12	48919720	48919720	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:48919720C>T	uc010slu.2	+	0	306	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CTCAGGTCTTCTTTGTGTTTG	0.522000														18			32		0	0	0.009535	0	0
ZRANB3	84083	broad.mit.edu	37	2	136023176	136023176	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:136023176G>A	uc002tum.3	-	11	1584	c.1467C>T	c.(1465-1467)ttC>ttT	p.F489F	ZRANB3_uc002tuk.3_Silent_p.F32F|ZRANB3_uc002tul.3_Silent_p.F489F	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.	489						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CAAACTGCAGGAAATCCCATT	0.403000														10			10		0	0	0.008291	0	0
WFDC8	90199	broad.mit.edu	37	20	44181880	44181880	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:44181880C>T	uc002xow.3	-	4	560	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	WFDC8_uc002xox.3_Missense_Mutation_p.E161K	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	161	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TCCTTACGTTCAGTGAAAGGG	0.493000														20			18		0	0	0.008871	0	0
RPH3A	22895	broad.mit.edu	37	12	113306318	113306318	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:113306318G>A	uc010syl.2	+	7	890	c.528G>A	c.(526-528)aaG>aaA	p.K176K	RPH3A_uc001ttz.3_Silent_p.K176K|RPH3A_uc001tty.3_Silent_p.K172K|RPH3A_uc009zwe.1_Silent_p.K172K|RPH3A_uc010sym.2_Silent_p.K127K|RPH3A_uc001tua.3_5'UTR	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	176	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AGAAGACCAAGCCCCAGCAGC	0.597000														18			31		0	0	0.002096	0	0
CNGB1	1258	broad.mit.edu	37	16	57994767	57994767	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:57994767G>A	uc002emt.2	-	7	576	c.511C>T	c.(511-513)Cct>Tct	p.P171S	CNGB1_uc010cdh.2_Missense_Mutation_p.P171S|CNGB1_uc002emu.2_Missense_Mutation_p.P171S	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	171	Pro-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGGGGCTGAGGAAGCACTCTT	0.637000														35			16		0	0	0.004990	0	0
DSCAML1	57453	broad.mit.edu	37	11	117301631	117301631	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:117301631G>A	uc001prh.1	-	31	5675	c.5673C>T	c.(5671-5673)atC>atT	p.I1891I		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1831					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGCACTCGGTGATCTCAAACT	0.582000														117			18		0	0	0.006122	0	0
WRN	7486	broad.mit.edu	37	8	31015025	31015025	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:31015025C>T	uc003xio.4	+	32	4749	c.3961C>T	c.(3961-3963)Cga>Tga	p.R1321*	WRN_uc010lvk.3_Nonsense_Mutation_p.R788*	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	1321					DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TGATGTTATCCGAAACCCTCC	0.483000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					21			7		0	0	0.003080	0	0
MAP3K6	9064	broad.mit.edu	37	1	27689240	27689240	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:27689240G>A	uc001bny.1	-	7	1396	c.1147C>T	c.(1147-1149)Cgc>Tgc	p.R383C	MAP3K6_uc009vsw.1_Missense_Mutation_p.R375C|MAP3K6_uc001bnz.1_5'Flank	NM_004672	NP_004663	O95382	M3K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA.	383					activation of JUN kinase activity		ATP binding|MAP kinase kinase kinase activity|magnesium ion binding			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AAAGCCTTGCGATACCTGGGG	0.592000														24			9		0	0	0.006214	0	0
PRDM16	63976	broad.mit.edu	37	1	3347451	3347451	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:3347451C>T	uc001akf.3	+	14	3382	c.3300C>T	c.(3298-3300)atC>atT	p.I1100I	PRDM16_uc001ake.3_Silent_p.I1100I|PRDM16_uc009vlh.3_Silent_p.I800I|PRDM16_uc001akc.3_Silent_p.I1099I	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	1100	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACATGCAGATCGTGGACGGCA	0.602000			T	EVI1	"""MDS, AML"""									36			16		0	0	0.008871	0	0
KCNMB1	3779	broad.mit.edu	37	5	169805759	169805759	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:169805759G>A	uc003maq.1	-	3	925	c.525C>T	c.(523-525)atC>atT	p.I175I	KCNIP1_uc003map.3_Intron	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 1 (KCNMB1), mRNA.	175					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		TCACCATGGCGATAATGAGGA	0.607000														61			11		0	0	0.000978	0	0
ZNF445	353274	broad.mit.edu	37	3	44488121	44488121	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:44488121G>A	uc003cnf.2	-	7	3390	c.3042C>T	c.(3040-3042)acC>acT	p.T1014T	ZNF445_uc011azv.1_Silent_p.T1002T|ZNF445_uc011azw.1_Silent_p.T1014T	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	1014					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)		ACCACCTGAAGGTCTTTCCAC	0.478000														53			22		0	0	0.002299	0	0
CACNA1S	779	broad.mit.edu	37	1	201046156	201046156	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:201046156G>A	uc001gvv.3	-	11	1946	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	573					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCAGGAGGGCGAAGATGACGA	0.567000														70			6		0	0	0.001168	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528719	77528719	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:77528719C>T	uc022bzh.1	-	0	525	c.525G>A	c.(523-525)gaG>gaA	p.E175E	CYSLTR1_uc004edb.3_Silent_p.E175E|CYSLTR1_uc010nma.3_Silent_p.E175E|CYSLTR1_uc010nmb.3_Silent_p.E175E	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	Homo sapiens cysteinyl leukotriene receptor 1 (CYSLTR1), mRNA.	175					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	CTTGTGGGGGCTCAAAGCACT	0.338000														12			14		0	0	0.002450	0	0
OR2T34	127068	broad.mit.edu	37	1	248737590	248737590	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248737590C>T	uc001iep.1	-	0	469	c.469G>A	c.(469-471)Gga>Aga	p.G157R		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAACCATTCCCAAAACCCAG	0.522000														26			10		0	0	0.006122	0	0
OR10A6	390093	broad.mit.edu	37	11	7950088	7950088	+	Missense_Mutation	SNP	C	T	T	rs139869925		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:7950088C>T	uc010rbh.2	-	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AATGGCATTTCCTATCAGGGT	0.468000														61			15		0	0	0.004007	0	0
MRPL44	65080	broad.mit.edu	37	2	224828523	224828523	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:224828523G>C	uc002vnr.4	+	2	768	c.699G>C	c.(697-699)aaG>aaC	p.K233N		NM_022915	NP_075066	Q9H9J2	RM44_HUMAN	Homo sapiens mitochondrial ribosomal protein L44 (MRPL44), nuclear gene encoding mitochondrial protein, mRNA.	233					RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGATGTGGAAGATAATAAATC	0.348000														20			16		0	0	0.001882	0	0
LIPG	9388	broad.mit.edu	37	18	47110052	47110052	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:47110052G>A	uc002ldv.3	+	7	1536	c.1284G>A	c.(1282-1284)aaG>aaA	p.K428K	LIPG_uc010xdh.2_Silent_p.K354K	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	Homo sapiens lipase, endothelial (LIPG), mRNA.	428	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						ACCTGTGGAAGGAGTTTCGCA	0.587000														28			8		0	0	0.003080	0	0
OR5M11	219487	broad.mit.edu	37	11	56310459	56310459	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56310459G>A	uc010rjl.2	-	0	275	c.275C>T	c.(274-276)tCc>tTc	p.S92F	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						ACCAGCAAAGGAAATGGTCTT	0.433000														26			17		0	0	0.006122	0	0
ITGA8	8516	broad.mit.edu	37	10	15614330	15614330	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:15614330G>A	uc001ioc.1	-	24	2517	c.2517C>T	c.(2515-2517)atC>atT	p.I839I	ITGA8_uc010qcb.1_Silent_p.I824I	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	839					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCACCTCCAGGATGGTGTCAC	0.443000														51			12		0	0	0.001855	0	0
OR6V1	346517	broad.mit.edu	37	7	142749749	142749749	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142749749C>T	uc011ksv.2	+	0	312	c.312C>T	c.(310-312)tcC>tcT	p.S104S		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TCCACTTTTCCCTGGGGTCCA	0.557000														124			7		0	0	0.003080	0	0
FNDC1	84624	broad.mit.edu	37	6	159653975	159653975	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:159653975C>T	uc010kjv.3	+	10	2631	c.2431C>T	c.(2431-2433)Cgg>Tgg	p.R811W	FNDC1_uc010kjw.1_Missense_Mutation_p.R696W	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	811						extracellular region		p.R811W(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCTGCGGGCCCGGCCTGCCTC	0.647000														14			5		0	0	0.001984	0	0
SAFB2	9667	broad.mit.edu	37	19	5595504	5595504	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:5595504G>A	uc002mcd.3	-	13	1999	c.1787C>T	c.(1786-1788)tCc>tTc	p.S596F		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CTGACTCTTGGAGCTCTGTTT	0.418000														21			8		0	0	0.003080	0	0
PLCH1	23007	broad.mit.edu	37	3	155200514	155200514	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:155200514C>T	uc021xge.1	-	22	3602	c.3325G>A	c.(3325-3327)Gaa>Aaa	p.E1109K	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.E1071K	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1109					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTACCCTTTTCCTTGATTTTC	0.468000														85			21		0	0	0.001882	0	0
BPTF	2186	broad.mit.edu	37	17	65907764	65907764	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:65907764C>T	uc002jgf.3	+	10	3825	c.3764C>T	c.(3763-3765)tCa>tTa	p.S1255L	BPTF_uc002jge.3_Missense_Mutation_p.S1381L	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1381					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCTTTACATTCATCAGTGCCT	0.408000														20			43		0	0	0.007835	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85492772	85492772	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:85492772G>A	uc001tac.3	+	13	3320	c.3209_splice	c.e13+1	p.S1070_splice	LRRIQ1_uc021rbo.1_Splice_Site_p.S948_splice	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1070										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCTCAAAACAGGTAAAAGCAT	0.289000														21			6		0	0	0.001168	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716674	142716674	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:142716674G>A	uc022cfm.1	-	0	2251	c.2251C>T	c.(2251-2253)Cct>Tct	p.P751S	SLITRK4_uc022cfl.1_Missense_Mutation_p.P751S|SLITRK4_uc004fbx.3_Missense_Mutation_p.P751S|SLITRK4_uc004fby.3_Missense_Mutation_p.P751S	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	751						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCTGCTAGGGAATAATTCA	0.383000														44			15		0	0	0.003163	0	0
NYAP2	57624	broad.mit.edu	37	2	226516185	226516185	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:226516185G>A	uc002voe.2	+	5	2041	c.1866G>A	c.(1864-1866)tcG>tcA	p.S622S	NYAP2_uc010fxa.1_3'UTR|NYAP2_uc002vof.1_Silent_p.S392S	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	622																	GGTCTGCGTCGACGTCAGGTG	0.493000														124			15		0	0	0.003163	0	0
C10orf120	399814	broad.mit.edu	37	10	124457516	124457516	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:124457516G>A	uc001lgn.3	-	2	773	c.741C>T	c.(739-741)ttC>ttT	p.F247F		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	247										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CTTTTGACTTGAAAACTACAT	0.388000														33			5		0	0	0.003080	0	0
PDZD2	23037	broad.mit.edu	37	5	32087274	32087274	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:32087274G>A	uc003jhl.3	+	19	4108	c.3720G>A	c.(3718-3720)ggG>ggA	p.G1240G	PDZD2_uc003jhm.3_Silent_p.G1240G	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1240					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTTCCCCAGGGAAGAAGGGGG	0.567000														48			15		0	0	0.003163	0	0
OR10K2	391107	broad.mit.edu	37	1	158389728	158389728	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158389728G>A	uc010pii.2	-	0	929	c.929C>T	c.(928-930)tCc>tTc	p.S310F		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S310F(2)|p.S310S(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TTACAACAGGGAAATTGTTCT	0.388000														26			5		0	0	0.000602	0	0
RPL10L	140801	broad.mit.edu	37	14	47120333	47120333	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:47120333G>A	uc001wwg.3	-	0	696	c.607C>T	c.(607-609)Cat>Tat	p.H203Y		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	203					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						AAGGGGCCATGACTGGGAACG	0.493000														43			9		0	0	0.008291	0	0
PRDM5	11107	broad.mit.edu	37	4	121720822	121720822	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:121720822G>A	uc003idn.3	-	8	1274	c.1024C>T	c.(1024-1026)Cac>Tac	p.H342Y	PRDM5_uc003ido.3_Missense_Mutation_p.H311Y|PRDM5_uc010ine.3_Missense_Mutation_p.H311Y	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	342					histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTACCTGAGTGGGTGATCATA	0.299000														11			8		0	0	0.003080	0	0
ERC2	26059	broad.mit.edu	37	3	56330340	56330340	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:56330340C>T	uc021wzo.1	-	1	921	c.781G>A	c.(781-783)Gag>Aag	p.E261K	ERC2_uc003dhr.1_Missense_Mutation_p.E261K	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	261						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CTAAAGTTCTCCTCGGTCAGC	0.542000														152			64		0	0	0.003610	0	0
LOC729020	729020	broad.mit.edu	37	10	105005843	105005843	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:105005843G>A	uc009xxi.2	+	0	200	c.90G>A	c.(88-90)ggG>ggA	p.G30G	BC040734_uc001kwr.3_Intron	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN	Homo sapiens rcRPE (LOC729020), mRNA.	30					carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity										TAGACTCTGGGGCCGATTATC	0.557000														42			16		0	0	0.004007	0	0
CAMKK2	10645	broad.mit.edu	37	12	121682391	121682391	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:121682391G>A	uc001tzv.3	-	15	2410	c.1581C>T	c.(1579-1581)tcC>tcT	p.S527S	CAMKK2_uc001tzt.3_Intron|CAMKK2_uc001tzu.3_Silent_p.S527S|CAMKK2_uc001tzw.3_Silent_p.S484S|CAMKK2_uc001tzx.3_Intron|CAMKK2_uc001tzy.3_Intron|CAMKK2_uc001tzz.1_Silent_p.S314S|CAMKK2_uc001uaa.1_Silent_p.S527S|CAMKK2_uc001uab.3_Silent_p.S527S|CAMKK2_uc001uac.3_Silent_p.S484S	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA.	527					MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCTCAGACAGGGACTCACATT	0.637000														134			37		0	0	0.006230	0	0
MYO18B	84700	broad.mit.edu	37	22	26422717	26422717	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:26422717G>A	uc003abz.1	+	42	7027	c.6777G>A	c.(6775-6777)agG>agA	p.R2259R	MYO18B_uc003aca.1_Silent_p.R2140R|MYO18B_uc010guy.1_Silent_p.R2141R|MYO18B_uc010guz.1_Silent_p.R2139R|MYO18B_uc011aka.1_Silent_p.R1413R|MYO18B_uc011akb.1_Silent_p.R1772R|MYO18B_uc010gva.1_Silent_p.R242R|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2259						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.R2259W(1)		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						GGCTCCGGAGGAAGAGAGCCC	0.632000														14			3		0	0	0.004672	0	0
GABBR2	9568	broad.mit.edu	37	9	101056138	101056138	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:101056138C>T	uc004ays.3	-	17	3049	c.2589G>A	c.(2587-2589)caG>caA	p.Q863Q		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	863					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.P862P(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TCCACTGTAGCTGGGGATTTT	0.373000														53			35		0	0	0.004289	0	0
SPRR4	163778	broad.mit.edu	37	1	152944534	152944534	+	Silent	SNP	G	A	A	rs147360157		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152944534G>A	uc001fav.1	+	1	231	c.168G>A	c.(166-168)ccG>ccA	p.P56P	SPRR4_uc021ozm.1_Silent_p.P56P	NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	Homo sapiens small proline-rich protein 4 (SPRR4), mRNA.	56	Gln-rich.				keratinization|peptide cross-linking	cell cortex		p.P56P(2)		lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AATGCCCACCGAAAGGCACCA	0.522000														51			20		0	0	0.001882	0	0
SPINK4	27290	broad.mit.edu	37	9	33240224	33240224	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:33240224G>A	uc003zsh.3	+	0	29	c.18G>A	c.(16-18)tgG>tgA	p.W6*		NM_014471	NP_055286	O60575	ISK4_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 4 (SPINK4), mRNA.	6						extracellular region	serine-type endopeptidase inhibitor activity			lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			TCCGCCAGTGGGTAATCGCCC	0.607000														7			3		0	0	0.009096	0	0
CUL5	8065	broad.mit.edu	37	11	107925391	107925391	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:107925391C>T	uc001pjv.3	+	5	1238	c.571C>T	c.(571-573)Cct>Tct	p.P191S	CUL5_uc001pju.3_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	191					G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TTGTTCTAATCCTGAGGATAA	0.289000														18			6		0	0	0.001168	0	0
MARCO	8685	broad.mit.edu	37	2	119749407	119749407	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:119749407G>A	uc002tln.1	+	13	1295	c.1163G>A	c.(1162-1164)gGa>gAa	p.G388E	MARCO_uc010yyf.1_Missense_Mutation_p.G310E	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	388	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGTCCCAAGGGAGCCCCTGGA	0.587000														9			6		0	0	0.001168	0	0
SLC26A4	5172	broad.mit.edu	37	7	107303820	107303820	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:107303820G>A	uc003vep.3	+	2	468	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	LOC286002_uc003veo.3_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	82					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CCGAGTCAAGGAATGGCTGCT	0.488000									Pendred syndrome					69			17		0	0	0.006122	0	0
ZNF600	162966	broad.mit.edu	37	19	53269225	53269225	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:53269225G>A	uc002qab.4	-	2	2070	c.1784C>T	c.(1783-1785)tCa>tTa	p.S595L	ZNF600_uc021uyz.1_Missense_Mutation_p.S595L	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TGCCAGGTATGAATTACGCAC	0.408000														100			51		0	0	0.003610	0	0
SLC22A8	9376	broad.mit.edu	37	11	62766457	62766457	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:62766457G>A	uc009yon.3	-	4	818	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S	SLC22A8_uc001nwn.1_Missense_Mutation_p.P24S|SLC22A8_uc009yom.3_Missense_Mutation_p.P110S|SLC22A8_uc001nwo.3_Missense_Mutation_p.P233S|SLC22A8_uc010rmm.2_Missense_Mutation_p.P142S|SLC22A8_uc001nwp.2_Missense_Mutation_p.P233S	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	233					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CGCCACTGGGGGATGGCGTAG	0.567000														40			8		0	0	0.004482	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148080978	148080978	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:148080978C>T	uc003weu.2	+	21	4229	c.3713C>T	c.(3712-3714)tCa>tTa	p.S1238L	CNTNAP2_uc003wev.2_Missense_Mutation_p.S15L	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1238					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CACCTGGATTCAGGTAAAGTC	0.547000										HNSCC(39;0.1)				14			7		0	0	0.003080	0	0
CLEC18B	497190	broad.mit.edu	37	16	74455130	74455130	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:74455130G>A	uc002fct.3	-	0	239	c.39C>T	c.(37-39)ctC>ctT	p.L13L	CLEC18B_uc002fcu.3_Silent_p.L13L|CLEC18B_uc010vmu.1_Silent_p.L13L|CLEC18B_uc010vmw.1_Silent_p.L13L	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	Homo sapiens C-type lectin domain family 18, member B (CLEC18B), mRNA.	13						extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCACAGCCAGGAGATGCCCCC	0.682000														56			5		0	0	0.003080	0	0
CLDN25	644672	broad.mit.edu	37	11	113650664	113650664	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:113650664G>A	uc009yyw.1	+	0	147	c.147G>A	c.(145-147)ggG>ggA	p.G49G		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	Homo sapiens claudin 25 (CLDN25), mRNA.	49						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						GGATCATGGGGATTTGGGAGG	0.567000														54			22		0	0	0.002299	0	0
KIF9	64147	broad.mit.edu	37	3	47286411	47286411	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:47286411C>T	uc010hjp.3	-	15	1988	c.1384G>A	c.(1384-1386)Ggg>Agg	p.G462R	KIF9_uc003cqx.3_Missense_Mutation_p.G462R|KIF9_uc003cqy.3_Missense_Mutation_p.G462R|KIF9_uc011bat.1_Non-coding_Transcript	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	462					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TCCACAAGCCCCGCCTACATA	0.542000														28			13		0	0	0.002450	0	0
abParts	0	broad.mit.edu	37	14	106757818	106757818	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:106757818C>T	uc021ser.1	-	749		c.19560G>A								Parts of antibodies, mostly variable regions.																		CCAGGGCCTTCCCTGGGGGCT	0.537000														22			21		0	0	0.003330	0	0
FAM75E1	286234	broad.mit.edu	37	9	90502188	90502188	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:90502188G>A	uc004app.4	+	3	2821	c.2786G>A	c.(2785-2787)gGa>gAa	p.G929E		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	929						integral to membrane											GAGCAGGAGGGAGTCCAGAGG	0.622000														28			15		0	0	0.003163	0	0
NLRP10	338322	broad.mit.edu	37	11	7981881	7981881	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:7981881G>A	uc001mfv.1	-	1	1295	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	426	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTCAAATAGGAACCTCTGGT	0.542000														65			16		0	0	0.004007	0	0
TGFA	7039	broad.mit.edu	37	2	70742001	70742001	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:70742001G>A	uc002sgs.4	-	1	332	c.84C>T	c.(82-84)tcC>tcT	p.S28S	TGFA_uc010fdq.3_Silent_p.S34S|TGFA_uc010fdr.3_Silent_p.S34S|TGFA_uc002sgt.4_Silent_p.S28S|TGFA_uc002sgu.3_Silent_p.S28S|TGFA_uc002sgv.3_Silent_p.S28S|TGFA_uc002sgw.3_Silent_p.S28S	NM_003236	NP_003227	P01135	TGFA_HUMAN	Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA.	28					activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	MAP kinase kinase activity|epidermal growth factor receptor binding|growth factor activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						CACTCAGCGGGGACGTGCTGT	0.607000														24			7		0	0	0.003080	0	0
EFCAB6	64800	broad.mit.edu	37	22	43933371	43933371	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:43933371G>A	uc003bdy.2	-	28	4248	c.3934C>T	c.(3934-3936)Ccc>Tcc	p.P1312S	EFCAB6_uc003bdz.2_Missense_Mutation_p.P1160S|EFCAB6_uc010gzi.2_Missense_Mutation_p.P1160S	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1312	Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTCTCTATGGGATCACAGTTC	0.542000														40			9		0	0	0.008291	0	0
FKBP6	8468	broad.mit.edu	37	7	72743446	72743446	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:72743446G>A	uc003tya.2	+	2	391	c.259G>A	c.(259-261)Gga>Aga	p.G87R	FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Missense_Mutation_p.G82R|FKBP6_uc010lbe.1_Non-coding_Transcript|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank	NM_003602	NP_003593	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.	87	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				AATGAAACTTGGAGAGGGTAG	0.483000														53			35		0	0	0.002445	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922514	17922514	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:17922514C>T	uc002nhl.1	+	2	849	c.702C>T	c.(700-702)ttC>ttT	p.F234F	B3GNT3_uc010ebd.1_Silent_p.F234F|B3GNT3_uc010ebe.1_Silent_p.F234F	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	234					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GCCACCTCTTCGTGGGGCAAC	0.562000														42			21		0	0	0.003954	0	0
MYH11	4629	broad.mit.edu	37	16	15854489	15854489	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:15854489C>T	uc002ddx.3	-	11	1284	c.1177G>A	c.(1177-1179)Gga>Aga	p.G393R	MYH11_uc002ddv.3_Missense_Mutation_p.G393R|MYH11_uc002ddw.3_Missense_Mutation_p.G386R|MYH11_uc002ddy.3_Missense_Mutation_p.G386R|MYH11_uc010bvg.3_Missense_Mutation_p.G218R|MYH11_uc002dea.1_Missense_Mutation_p.G92R	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	386	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACATTAATTCCCATGAGGTGG	0.443000			T	CBFB	AML									93			9		0	0	0.004482	0	0
KDM1B	221656	broad.mit.edu	37	6	18171642	18171642	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:18171642G>A	uc003ncn.1	+	6	707	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K		NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	Homo sapiens lysine (K)-specific demethylase 1B (KDM1B), mRNA.	156					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	p.E156K(2)		breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GCTTACCAAGGAAATCCAGCT	0.388000														28			12		0	0	0.001368	0	0
NCF4	4689	broad.mit.edu	37	22	37273719	37273719	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:37273719G>A	uc003apy.4	+	9	1058	c.874G>A	c.(874-876)Ggg>Agg	p.G292R	NCF4_uc003apz.4_3'UTR	NM_000631	NP_000622	Q15080	NCF4_HUMAN	Homo sapiens neutrophil cytosolic factor 4, 40kDa (NCF4), transcript variant 1, mRNA.	292					cell communication|immune response|oxidation-reduction process	NADPH oxidase complex|cytosol	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GGACGCTGAGGGGGATCTGGT	0.602000														42			14		0	0	0.003163	0	0
C6orf165	154313	broad.mit.edu	37	6	88144730	88144730	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:88144730G>A	uc003plv.3	+	10	1576	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	SLC35A1_uc003plx.3_5'Flank|C6orf165_uc003plu.2_Missense_Mutation_p.E485K|C6orf165_uc003plw.3_Missense_Mutation_p.E297K|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	485										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TCAACTATTGGAACTTCATCA	0.269000														36			19		0	0	0.007413	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151152940	151152940	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:151152940C>T	uc011eem.1	+	14	2958	c.2870C>T	c.(2869-2871)gCt>gTt	p.A957V	PLEKHG1_uc011eel.1_Missense_Mutation_p.A938V|PLEKHG1_uc003qny.1_Missense_Mutation_p.A898V|PLEKHG1_uc003qnz.2_Missense_Mutation_p.A898V	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	898					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GAGAGCCAGGCTCTCCTCACG	0.617000														35			33		0	0	0.002096	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808905	18808905	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:18808905G>A	uc001bax.3	+	0	1482	c.1430G>A	c.(1429-1431)gGg>gAg	p.G477E	KLHDC7A_uc009vpg.3_Missense_Mutation_p.G259E	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	477						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTGAGCGGGGCAGAGCGC	0.667000														67			29		0	0	0.006320	0	0
SI	6476	broad.mit.edu	37	3	164739156	164739156	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:164739156T>C	uc003fei.3	-	26	3178	c.3115A>G	c.(3115-3117)Aag>Gag	p.K1039E		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1039	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	p.Q1038K(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TATCTCTTCTTTTGGGGATCA	0.328000										HNSCC(35;0.089)				78			44		0	0	0.003610	0	0
ARMC4	55130	broad.mit.edu	37	10	28283909	28283909	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:28283909C>T	uc009xky.3	-	1	261	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	ARMC4_uc001itz.3_Missense_Mutation_p.E55K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	55							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCAAGTGGTTCCACAAAAACA	0.378000														14			4		0	0	0.009096	0	0
DENND2C	163259	broad.mit.edu	37	1	115166153	115166153	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:115166153C>T	uc001efd.1	-	4	1620	c.918G>A	c.(916-918)gaG>gaA	p.E306E	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Silent_p.E306E	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	306										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGATATTGTCCTCAGACTGTG	0.353000														38			6		0	0	0.001984	0	0
ADAM22	53616	broad.mit.edu	37	7	87774472	87774472	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:87774472C>T	uc003ujn.3	+	15	1568	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	ADAM22_uc003ujk.2_Silent_p.F451F|ADAM22_uc003ujl.2_Silent_p.F451F|ADAM22_uc003ujm.3_Silent_p.F451F|ADAM22_uc003ujo.3_Silent_p.F451F|ADAM22_uc003ujp.1_Silent_p.F503F	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	451	Disintegrin.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GCAATGGCTTCATTGAAACTG	0.413000														27			19		0	0	0.003330	0	0
PLXDC2	84898	broad.mit.edu	37	10	20436791	20436791	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:20436791C>T	uc001iqg.1	+	5	1380	c.743C>T	c.(742-744)aCc>aTc	p.T248I	PLXDC2_uc001iqh.1_Missense_Mutation_p.T199I|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	248						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TTCCAGGCAACCCTGCTCATG	0.448000														25			9		0	0	0.006214	0	0
EIF2C1	26523	broad.mit.edu	37	1	36379862	36379862	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:36379862C>A	uc001bzl.3	+	13	2033	c.1820C>A	c.(1819-1821)cCt>cAt	p.P607H	EIF2C1_uc001bzk.3_Missense_Mutation_p.P532H|EIF2C1_uc009vuy.3_Non-coding_Transcript	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	607	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGGAAAAAACCTTCTATCACA	0.483000														42			23		3.83957e-06	4.20504e-06	0.002780	1	0
SORL1	6653	broad.mit.edu	37	11	121393342	121393342	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:121393342C>T	uc001pxx.3	+	9	1581	c.1452C>T	c.(1450-1452)ctC>ctT	p.L484L		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	484					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCAGTCAGCTCCTCAACCTCC	0.552000														67			40		0	0	0.002852	0	0
TNXB	7148	broad.mit.edu	37	6	32020716	32020716	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:32020716G>A	uc003nzl.2	-	25	9042	c.8840C>T	c.(8839-8841)cCc>cTc	p.P2947L		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2994	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCCTCAGGGGGCTCCGGGGC	0.662000														234			116		0	0	0.003610	0	0
TEAD1	7003	broad.mit.edu	37	11	12903501	12903501	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:12903501C>T	uc021qdx.1	+	7	1191	c.571C>T	c.(571-573)Cca>Tca	p.P191S	TEAD1_uc001mkk.4_Missense_Mutation_p.P95S|TEAD1_uc009ygl.3_Missense_Mutation_p.P70S	NM_021961	NP_068780	P28347	TEAD1_HUMAN	Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA.	191	Pro-rich.|Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.W191*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AGCCCCCATTCCAGGTGAGTG	0.552000														37			26		0	0	0.006320	0	0
FAM179A	165186	broad.mit.edu	37	2	29274906	29274906	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:29274906G>A	uc010ezl.3	+	19	3358	c.3007G>A	c.(3007-3009)Gtg>Atg	p.V1003M	FAM179A_uc010ymm.2_Missense_Mutation_p.V948M|FAM179A_uc002rmr.4_Missense_Mutation_p.V530M	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	1003							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGACAGAGGGGTGGCCCCTGA	0.502000														29			4		0	0	0.000602	0	0
TMEM246	84302	broad.mit.edu	37	9	104238324	104238325	+	Silent	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:104238324_104238325GG>AA	uc004bbm.3	-	1	1372_1373	c.1050_1051CC>TT	c.(1048-1053)tacctg>taTTtg	p.350_351YL>YL	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Silent_p.350_351YL>YL	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	350						integral to membrane											ACTTGGGACAGGTAGGTGAGGG	0.619000														25			6		0	0	0.004672	0	0
MBD5	55777	broad.mit.edu	37	2	149247110	149247110	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:149247110G>A	uc002twm.4	+	11	4207	c.3210G>A	c.(3208-3210)caG>caA	p.Q1070Q	MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Silent_p.Q328Q|MBD5_uc002twp.3_Silent_p.Q120Q	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1070						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TTGGTCAACAGGTGAAGGATG	0.502000														53			17		0	0	0.004990	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693180	187693180	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:187693180G>A	uc002upu.1	-	8	1473	c.1433C>T	c.(1432-1434)tCa>tTa	p.S478L		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	478					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TTTTGAATTTGAATTATCTAA	0.303000														27			11		0	0	0.000978	0	0
FAM5C	339479	broad.mit.edu	37	1	190424004	190424004	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:190424004C>T	uc001gse.1	-	1	249	c.17G>A	c.(16-18)aGa>aAa	p.R6K	FAM5C_uc010pot.1_5'UTR	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	6						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGCACCAGCTCTGCTTCGCCA	0.468000														15			9		0	0	0.004482	0	0
MKLN1	4289	broad.mit.edu	37	7	131128415	131128415	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:131128415C>T	uc011kpm.2	+	10	1413	c.1349C>T	c.(1348-1350)cCt>cTt	p.P450L	MKLN1_uc011kpl.2_Missense_Mutation_p.P427L|MKLN1_uc010lmh.2_Missense_Mutation_p.P450L|MKLN1_uc003vqs.3_Missense_Mutation_p.P243L	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	Homo sapiens muskelin 1, intracellular mediator containing kelch motifs (MKLN1), transcript variant 2, mRNA.	450					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					AATGCTGGGCCTGAGGACATC	0.428000														54			9		0	0	0.004482	0	0
FRAS1	80144	broad.mit.edu	37	4	79443817	79443817	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:79443817G>A	uc003hlb.2	+	68	11103	c.10663G>A	c.(10663-10665)Gag>Aag	p.E3555K		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3550					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTTTGTGATGGAGCATCACAC	0.438000														6			4		0	0	0.000602	0	0
CXXC5	51523	broad.mit.edu	37	5	139060274	139060274	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:139060274C>T	uc010jfg.1	+	1	456	c.166C>T	c.(166-168)Ccc>Tcc	p.P56S	CXXC5_uc003let.2_Missense_Mutation_p.P56S	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	Homo sapiens CXXC finger protein 5 (CXXC5), mRNA.	56					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACACCACCCCCCGAGCGTCG	0.642000														27			9		0	0	0.004482	0	0
CCBE1	147372	broad.mit.edu	37	18	57107039	57107039	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:57107039C>T	uc002lib.3	-	7	855	c.785G>A	c.(784-786)gGa>gAa	p.G262E	CCBE1_uc010dpq.3_Intron|CCBE1_uc002lia.3_Missense_Mutation_p.G115E	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	262	Collagen-like 1.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TCCCTTTGGTCCTGGTGAGCC	0.597000														33			9		0	0	0.008291	0	0
CDH7	1005	broad.mit.edu	37	18	63492003	63492003	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:63492003G>A	uc002lkb.3	+	5	1343	c.917G>A	c.(916-918)gGt>gAt	p.G306D	CDH7_uc002ljz.3_Missense_Mutation_p.G306D|CDH7_uc002lka.3_Missense_Mutation_p.G306D	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	306	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GATGGTGATGGTTTGGGCATT	0.368000														36			17		0	0	0.007413	0	0
PLCG2	5336	broad.mit.edu	37	16	81914535	81914536	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:81914535_81914536GG>AT	uc002fgt.3	+	7	847_848	c.669_670GG>AT	c.(667-672)aaggat>aaATat	p.D224Y	PLCG2_uc010chg.1_Missense_Mutation_p.D224Y	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	224					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AATTCAAAAAGGATTCGTCCGT	0.495000														86			8		0	0	0.004672	0	0
LMTK3	114783	broad.mit.edu	37	19	49001288	49001288	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:49001288C>T	uc002pjk.3	-	11	3125	c.3125G>A	c.(3124-3126)aGg>aAg	p.R1042K		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CTCCGTGTTCCTGGGGAATCT	0.662000														52			24		0	0	0.002299	0	0
HPS4	89781	broad.mit.edu	37	22	26860329	26860329	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:26860329T>C	uc003acl.3	-	10	1926	c.1267A>G	c.(1267-1269)Agc>Ggc	p.S423G	HPS4_uc003aci.3_Missense_Mutation_p.S418G|HPS4_uc003acj.3_Missense_Mutation_p.S287G|HPS4_uc003ack.3_Missense_Mutation_p.S214G|HPS4_uc003acn.3_Missense_Mutation_p.S269G|HPS4_uc010gvd.1_Missense_Mutation_p.S441G|HPS4_uc003ach.3_Missense_Mutation_p.S158G	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA.	423					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CGCAAGCTGCTGATGGCTGTG	0.617000									Hermansky-Pudlak syndrome					73			28		0	0	0.005443	0	0
C3orf15	89876	broad.mit.edu	37	3	119427482	119427482	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:119427482C>T	uc003ede.4	+	3	481	c.404C>T	c.(403-405)cCt>cTt	p.P135L	C3orf15_uc010hqx.1_Missense_Mutation_p.P135L|C3orf15_uc003edc.2_Missense_Mutation_p.P135L|C3orf15_uc010hqy.2_Missense_Mutation_p.P135L|C3orf15_uc010hqz.3_Missense_Mutation_p.P73L|C3orf15_uc011bjd.2_Missense_Mutation_p.P9L|C3orf15_uc011bje.2_Missense_Mutation_p.P115L|C3orf15_uc010hra.2_5'UTR	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	135						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		TATGAAGATCCTGAAGTTACT	0.289000														31			11		0	0	0.002450	0	0
INSRR	3645	broad.mit.edu	37	1	156811534	156811534	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:156811534C>T	uc010pht.2	-	19	3749	c.3450G>A	c.(3448-3450)ggG>ggA	p.G1150G	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1150	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCAGCCCCTTCCCACCCTTGC	0.617000														64			35		0	0	0.003755	0	0
FAM83B	222584	broad.mit.edu	37	6	54806620	54806620	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:54806620A>G	uc003pck.3	+	4	2967	c.2851A>G	c.(2851-2853)Agc>Ggc	p.S951G		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	951										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCAGCCAACAAGCAACATGCC	0.438000														46			12		0	0	0.000978	0	0
TFR2	7036	broad.mit.edu	37	7	100238703	100238703	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100238703G>A	uc003uvv.1	-	1	251	c.182C>T	c.(181-183)cCc>cTc	p.P61L	TFR2_uc003uvw.1_Missense_Mutation_p.P61L	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	61					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGAGCCCAGGGGCTCAGGGCC	0.677000														11			9		0	0	0.004482	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891879	2891879	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:2891879C>T	uc002kln.3	+	3	1913	c.1754C>T	c.(1753-1755)tCt>tTt	p.S585F		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	585					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CTTTTGAAATCTCTCAACGAC	0.458000														28			7		0	0	0.003080	0	0
DNER	92737	broad.mit.edu	37	2	230312072	230312072	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:230312072G>A	uc002vpv.3	-	7	1593	c.1446C>T	c.(1444-1446)tgC>tgT	p.C482C	DNER_uc010zly.1_Silent_p.C210C	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	482	EGF-like 7.				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.T481M(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CCACGCTGCGGCACGTGCCAT	0.562000														16			3		0	0	0.000602	0	0
ZBTB8A	653121	broad.mit.edu	37	1	33058852	33058852	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:33058852T>C	uc001bvn.3	+	2	805	c.320T>C	c.(319-321)aTg>aCg	p.M107T	ZBTB8A_uc001bvk.3_Non-coding_Transcript|ZBTB8A_uc001bvm.3_Missense_Mutation_p.M107T	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN	Homo sapiens zinc finger and BTB domain containing 8A (ZBTB8A), mRNA.	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TTCCTTCAGATGACTGATGTC	0.373000														77			36		0	0	0.003755	0	0
NOG	9241	broad.mit.edu	37	17	54671853	54671853	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:54671853G>A	uc002iup.2	+	0	794	c.269G>A	c.(268-270)gGg>gAg	p.G90E		NM_005450	NP_005441	Q13253	NOGG_HUMAN	Homo sapiens noggin (NOG), mRNA.	90					BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of BMP signaling pathway|negative regulation of astrocyte differentiation|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity			ovary(1)	1	Breast(9;5.24e-08)					cggcccggcgggggcgggggT	0.721000														14			14		0	0	0.002450	0	0
OR52L1	338751	broad.mit.edu	37	11	6008110	6008110	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:6008110G>A	uc001mcd.2	-	0	106	c.51C>T	c.(49-51)ctC>ctT	p.L17L		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L2L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATTGCTAAGGAGCATTATCA	0.463000														47			5		0	0	0.000602	0	0
PARP4	143	broad.mit.edu	37	13	25009566	25009566	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:25009566C>T	uc001upl.3	-	30	3819	c.3713G>A	c.(3712-3714)cGa>cAa	p.R1238Q		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1238					DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CCTATGTTTTCGTTTGGATAA	0.373000														47			10		0	0	0.006214	0	0
LOC442459	442459	broad.mit.edu	37	X	98975483	98975483	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:98975483C>T	uc011mrd.1	-	8		c.860_splice	c.e8-1							Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																		GAACTGGATTCCTCAAAGGAT	0.478000														2			5		0	0	0.000602	0	0
NKRF	55922	broad.mit.edu	37	X	118725046	118725046	+	Silent	SNP	A	G	G	rs148494768		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:118725046A>G	uc022cdk.1	-	3	609	c.387T>C	c.(385-387)taT>taC	p.Y129Y	NKRF_uc004erq.3_Silent_p.Y114Y|NKRF_uc004err.3_Silent_p.Y114Y	NM_001173487	NP_060014	O15226	NKRF_HUMAN	Homo sapiens NFKB repressing factor (NKRF), transcript variant 1, mRNA.	114	Active repression domain.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						ATGAATCACAATACTGAGAAT	0.423000														19			37		0	0	0.006230	0	0
MICAL3	57553	broad.mit.edu	37	22	18300928	18300929	+	Missense_Mutation	DNP	TC	CT	CT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:18300928_18300929TC>CT	uc002zng.4	-	25	4851_4852	c.4498_4499GA>AG	c.(4498-4500)gag>AGg	p.E1500R	MICAL3_uc011agl.2_Missense_Mutation_p.E1416R|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1500	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGAGCAGGCTCCCGGGGGGGC	0.668000														12			4		0	0	0.004672	0	0
ZNF181	339318	broad.mit.edu	37	19	35231794	35231794	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:35231794C>T	uc002nvu.3	+	3	971	c.508C>T	c.(508-510)Ctt>Ttt	p.L170F	ZNF181_uc010xsb.1_Missense_Mutation_p.L169F|ZNF181_uc010xsc.1_Missense_Mutation_p.L105F	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA.	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E170Q(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAAGTCTACTCTTTCTGAACC	0.333000														32			10		0	0	0.006214	0	0
OR52I2	143502	broad.mit.edu	37	11	4608395	4608395	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4608395G>A	uc010qyh.2	+	0	375	c.353G>A	c.(352-354)gGa>gAa	p.G118E		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCTGCTCAGGAGACAGCTCA	0.512000														126			28		0	0	0.004656	0	0
IL18R1	8809	broad.mit.edu	37	2	102992414	102992414	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:102992414G>A	uc002tbw.4	+	4	666	c.516G>A	c.(514-516)aaG>aaA	p.K172K	IL18R1_uc010ywd.2_Silent_p.K17K|IL18R1_uc010fiy.3_Silent_p.K172K|IL18R1_uc010ywc.2_Silent_p.K172K	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	172	Ig-like C2-type 2.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CAACGATAAAGAAGAACGCCG	0.308000														18			13		0	0	0.001368	0	0
C18orf54	162681	broad.mit.edu	37	18	51904574	51904574	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:51904574C>T	uc002lfo.4	+	6	1606	c.1560C>T	c.(1558-1560)gaC>gaT	p.D520D	C18orf54_uc002lfn.4_Silent_p.D359D	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	Homo sapiens chromosome 18 open reading frame 54 (C18orf54), mRNA.	359						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		GCCTGAGAGACCTGGTTGATG	0.378000														13			6		0	0	0.004482	0	0
SELL	6402	broad.mit.edu	37	1	169672407	169672407	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:169672407G>A	uc010pls.2	-	3	909	c.800C>T	c.(799-801)cCa>cTa	p.P267L	C1orf112_uc001ggj.3_Intron|SELL_uc001ggk.3_Missense_Mutation_p.P327L|SELL_uc001ggl.2_Missense_Mutation_p.P327L	NM_000655	NP_000646	P14151	LYAM1_HUMAN	Homo sapiens selectin L (SELL), transcript variant 1, mRNA.	314	Sushi 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TTGACATATTGGACTAGGATT	0.378000														21			9		0	0	0.008291	0	0
TTLL9	164395	broad.mit.edu	37	20	30496439	30496439	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:30496439G>A	uc010gdx.1	+	4	505	c.252G>A	c.(250-252)cgG>cgA	p.R84R	TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Non-coding_Transcript|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Intron|TTLL9_uc010ztp.1_Non-coding_Transcript|TTLL9_uc010ztq.1_5'Flank	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA.	84	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCTGGCTCCGGGAGAACTTCG	0.602000														25			5		0	0	0.001168	0	0
HTT	3064	broad.mit.edu	37	4	3214418	3214418	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:3214418C>T	uc021xkv.1	+	48	6901	c.6756C>T	c.(6754-6756)ttC>ttT	p.F2252F		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2252					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTGTGAAATTCGTGGTGGCAA	0.557000														26			27		0	0	0.008361	0	0
MAP1S	55201	broad.mit.edu	37	19	17838325	17838325	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:17838325C>T	uc002nhe.1	+	4	2141	c.2132C>T	c.(2131-2133)cCc>cTc	p.P711L	MAP1S_uc010eaz.2_Missense_Mutation_p.P324L|MAP1S_uc010xpv.1_Missense_Mutation_p.P685L	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	711	Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	DNA binding|actin filament binding|beta-tubulin binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CCATCCGCCCCCACCAGTGAG	0.701000														17			7		0	0	0.001984	0	0
ANO5	203859	broad.mit.edu	37	11	22279281	22279281	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:22279281G>A	uc001mqi.2	+	13	1705	c.1388G>A	c.(1387-1389)gGa>gAa	p.G463E	ANO5_uc001mqj.2_Missense_Mutation_p.G462E	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	463						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTCTTTCAGGAGCCACAGTG	0.368000														22			12		0	0	0.001855	0	0
OR1S1	219959	broad.mit.edu	37	11	57982705	57982705	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:57982705C>T	uc010rkc.2	+	0	489	c.489C>T	c.(487-489)ttC>ttT	p.F163F		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TCTCATGGTTCCTCAGTAATA	0.483000														171			20		0	0	0.003330	0	0
EIF2B4	8890	broad.mit.edu	37	2	27591996	27591996	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:27591996C>T	uc002rjz.3	-	2	394	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	EIF2B4_uc002rka.3_Missense_Mutation_p.E84K|EIF2B4_uc002rkb.3_Missense_Mutation_p.E99K|EIF2B4_uc002rkc.3_Missense_Mutation_p.E98K|EIF2B4_uc002rke.3_Missense_Mutation_p.E68K|EIF2B4_uc002rkf.1_Missense_Mutation_p.E68K|SNX17_uc010ylj.1_5'Flank|SNX17_uc002rki.1_5'Flank|SNX17_uc002rkh.1_5'Flank|SNX17_uc010yll.1_5'Flank|SNX17_uc010ylm.1_5'Flank|SNX17_uc010yln.1_5'Flank|SNX17_uc010ylo.1_5'Flank|SNX17_uc010ylp.1_5'Flank|SNX17_uc002rkg.1_5'Flank|SNX17_uc010ylk.1_5'Flank|SNX17_uc010eza.1_5'Flank|SNX17_uc010ylq.1_5'Flank	NM_172195	NP_751945	Q9UI10	EI2BD_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa (EIF2B4), transcript variant 1, mRNA.	99					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCGAAGTTCGGCCTTACTC	0.572000														51			36		0	0	0.006230	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764749	77764749	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:77764749G>A	uc003yau.2	+	9	5979	c.5592G>A	c.(5590-5592)aaG>aaA	p.K1864K	ZFHX4_uc003yaw.1_Silent_p.K1819K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1819						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)			TTTCTGAAAAGCCAGAAAAAC	0.398000										HNSCC(33;0.089)				7			3		0	0	0.004672	0	0
C1orf173	127254	broad.mit.edu	37	1	75065462	75065462	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:75065462G>A	uc001dgg.3	-	10	1862	c.1643C>T	c.(1642-1644)tCa>tTa	p.S548L	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.S342L	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	548	Glu-rich.									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						TGCCTTCTGTGATGAGGTTTC	0.423000														66			46		0	0	0.002522	0	0
NR3C1	2908	broad.mit.edu	37	5	142779717	142779718	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:142779717_142779718CC>TT	uc003lnd.3	-	1	1681_1682	c.687_688GG>AA	c.(685-690)gcggga>gcAAga	p.G230R	NR3C1_uc003lmy.3_Missense_Mutation_p.G230R|NR3C1_uc003lmz.3_5'UTR|NR3C1_uc003lna.3_Missense_Mutation_p.G230R|NR3C1_uc003lnb.3_Missense_Mutation_p.G230R|NR3C1_uc011dbk.2_Intron|NR3C1_uc003lnf.3_Missense_Mutation_p.G230R|NR3C1_uc003lne.3_Missense_Mutation_p.G230R|NR3C1_uc003lnc.3_Missense_Mutation_p.G230R|NR3C1_uc021yfa.1_Missense_Mutation_p.G230R|NR3C1_uc021yfb.1_Missense_Mutation_p.G230R|NR3C1_uc003lng.2_Missense_Mutation_p.G230R|NR3C1_uc003lni.2_Missense_Mutation_p.G230R	NM_001018077	NP_001191193	P04150	GCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) (NR3C1), transcript variant 5, mRNA.	230	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	TCGTCTTCTCCCGCCAGAGGAG	0.436000														50			16		0	0	0.004672	0	0
SCN5A	6331	broad.mit.edu	37	3	38640490	38640490	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38640490G>A	uc021wvo.1	-	11	1994	c.1942C>T	c.(1942-1944)Ccg>Tcg	p.P648S	SCN5A_uc021wvk.1_Missense_Mutation_p.P648S|SCN5A_uc021wvl.1_Missense_Mutation_p.P648S|SCN5A_uc021wvm.1_Missense_Mutation_p.P648S|SCN5A_uc021wvn.1_Missense_Mutation_p.P648S|SCN5A_uc021wvp.1_Missense_Mutation_p.P648S|SCN5A_uc021wvq.1_Missense_Mutation_p.P648S|SCN5A_uc021wvr.1_Missense_Mutation_p.P648S|SCN5A_uc021wvs.1_Missense_Mutation_p.P648S|SCN5A_uc021wvt.1_Missense_Mutation_p.P648S|SCN5A_uc021wvu.1_Missense_Mutation_p.P648S|SCN5A_uc021wvv.1_Missense_Mutation_p.P648S|SCN5A_uc021wvj.1_Missense_Mutation_p.P514S|SCN5A_uc021wvi.1_Missense_Mutation_p.P514S|SCN5A_uc021wvw.1_Missense_Mutation_p.P259S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	648					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCTACACACGGAGCCTGGGAG	0.647000														43			23		0	0	0.001882	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43591177	43591177	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:43591177G>A	uc002lbp.4	-	4	420	c.324C>T	c.(322-324)ttC>ttT	p.F108F	PSTPIP2_uc002lbq.4_Silent_p.F108F	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.	108						membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						GCTTTTCCCTGAATTCTTCCA	0.373000														87			46		0	0	0.003610	0	0
KCNQ3	3786	broad.mit.edu	37	8	133192419	133192419	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:133192419G>A	uc003ytj.3	-	3	987	c.762C>T	c.(760-762)atC>atT	p.I254I	KCNQ3_uc003yti.3_Silent_p.I134I|KCNQ3_uc010mdt.3_Silent_p.I254I	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	254					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGTGGGCACAGATGGCTGAGC	0.597000														42			24		0	0	0.004656	0	0
APOB	338	broad.mit.edu	37	2	21246531	21246531	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:21246531C>T	uc002red.3	-	16	2598	c.2470G>A	c.(2470-2472)Gac>Aac	p.D824N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	824					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)	AGAAAAAAGTCATTCTTTGAG	0.413000														158			98		0	0	0.003610	0	0
JPH4	84502	broad.mit.edu	37	14	24040512	24040512	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:24040512G>A	uc001wkq.2	-	5	2346	c.1428C>T	c.(1426-1428)tgC>tgT	p.C476C	JPH4_uc010tnr.1_Silent_p.C141C|JPH4_uc001wkr.2_Silent_p.C476C	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	Homo sapiens junctophilin 4 (JPH4), transcript variant 1, mRNA.	476					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GTGGGCTCCGGCAGGCAGGGG	0.682000														58			10		0	0	0.006214	0	0
GRID2	2895	broad.mit.edu	37	4	94137898	94137898	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:94137898G>A	uc011cdt.2	+	5	1057	c.799G>A	c.(799-801)Gat>Aat	p.D267N	GRID2_uc010ikx.3_Missense_Mutation_p.D267N|GRID2_uc011cdu.2_Missense_Mutation_p.D172N|GRID2_uc010ikz.1_5'UTR	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	267					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGAAATAAACGATGTGGACGT	0.378000														25			22		0	0	0.002299	0	0
SRRT	51593	broad.mit.edu	37	7	100479839	100479839	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100479839C>T	uc003uwy.2	+	4	831	c.564C>T	c.(562-564)ttC>ttT	p.F188F	SRRT_uc010lhl.1_Silent_p.F188F|SRRT_uc003uxa.2_Silent_p.F188F|SRRT_uc003uwz.2_Silent_p.F188F	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	188					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGGATTTCTTCCTGGCGCACA	0.592000														30			11		0	0	0.000978	0	0
PYGO2	90780	broad.mit.edu	37	1	154931774	154931774	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:154931774G>A	uc001fft.3	-	2	908	c.702C>T	c.(700-702)ctC>ctT	p.L234L		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	Homo sapiens pygopus homolog 2 (Drosophila) (PYGO2), mRNA.	234	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCAGGCTGGGGAGCCCCTGAC	0.627000														31			13		0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179569031	179569031	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179569031G>A	uc021vsy.1	-	102	26559	c.26334C>T	c.(26332-26334)ttC>ttT	p.F8778F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F5439F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9705	Ig-like 70.						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)			TGCCATTTCTGAACCATTCAG	0.433000														53			24		0	0	0.002780	0	0
SETBP1	26040	broad.mit.edu	37	18	42281671	42281671	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:42281671G>A	uc010dni.3	+	1	656	c.360G>A	c.(358-360)ttG>ttA	p.L120L	SETBP1_uc002lay.3_Silent_p.L120L	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	120						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAAAGAATTTGGAGAACTATA	0.463000									Schinzel-Giedion syndrome					29			11		0	0	0.000978	0	0
FCRL1	115350	broad.mit.edu	37	1	157772375	157772375	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:157772375G>A	uc001frg.3	-	3	512	c.399C>T	c.(397-399)atC>atT	p.I133I	FCRL1_uc001frf.3_5'Flank|FCRL1_uc001frh.3_Silent_p.I133I|FCRL1_uc001fri.3_Silent_p.I133I|FCRL1_uc001frj.3_Intron	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	133	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAACTGAGCAGATGAGGACCA	0.547000														31			13		0	0	0.001855	0	0
ZNF167	55888	broad.mit.edu	37	3	44612818	44612818	+	Missense_Mutation	SNP	G	A	A	rs151170690		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:44612818G>A	uc003cnj.3	+	5	2632	c.2216G>A	c.(2215-2217)cGa>cAa	p.R739Q	ZNF167_uc003cnk.3_Intron|ZNF167_uc010hin.3_Missense_Mutation_p.R739Q|ZNF167_uc003cni.3_Intron|ZNF167_uc010hio.3_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA.	739					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		CACCACCAGCGAACTCACACT	0.458000														47			21		0	0	0.002299	0	0
ZNF100	163227	broad.mit.edu	37	19	21910221	21910221	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:21910221A>G	uc002nqi.3	-	4	1092	c.893T>C	c.(892-894)tTt>tCt	p.F298S	ZNF100_uc002nqh.3_Missense_Mutation_p.F234S	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	Homo sapiens zinc finger protein 100 (ZNF100), mRNA.	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						AGACCGGTTAAAAGCTTTCCC	0.403000														19			4		0	0	0.009096	0	0
CLSTN2	64084	broad.mit.edu	37	3	140122557	140122557	+	Missense_Mutation	SNP	C	T	T	rs150165907		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:140122557C>T	uc003etn.3	+	2	509	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	CLSTN2_uc003etm.2_Missense_Mutation_p.R107C	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	107	Cadherin 1.				homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	p.R107H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGGCCGGCTCCGTGCCAAGAG	0.562000										HNSCC(16;0.037)				86			42		0	0	0.008740	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872921	51872921	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:51872921C>T	uc002xwo.3	+	1	3811	c.2924C>T	c.(2923-2925)tCg>tTg	p.S975L	TSHZ2_uc021wex.1_Missense_Mutation_p.S972L	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	975					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCCCGGGTATCGTCGGCTCAG	0.493000														33			9		0	0	0.006214	0	0
TRPM6	140803	broad.mit.edu	37	9	77390969	77390969	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:77390969G>A	uc004ajl.1	-	23	3471	c.3233C>T	c.(3232-3234)tCc>tTc	p.S1078F	TRPM6_uc004ajk.1_Missense_Mutation_p.S1073F|TRPM6_uc022bib.1_Missense_Mutation_p.S1073F|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.S34F	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1078					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATTTGAAATGGATTCCATATC	0.428000														52			10		0	0	0.008291	0	0
MUC16	94025	broad.mit.edu	37	19	9071723	9071723	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9071723G>A	uc002mkp.3	-	2	15927	c.15723C>T	c.(15721-15723)tcC>tcT	p.S5241S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5243	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						GTGGCACTGTGGACTTATCAT	0.478000														74			38		0	0	0.006230	0	0
DNAH5	1767	broad.mit.edu	37	5	13727761	13727761	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:13727761G>A	uc003jfd.2	-	69	11930	c.11888C>T	c.(11887-11889)tCg>tTg	p.S3963L	DNAH5_uc003jfc.2_Missense_Mutation_p.S131L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3963					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)					CTCATTTCTCGATATCTGAAA	0.398000									Kartagener syndrome					24			11		0	0	0.001368	0	0
TNS1	7145	broad.mit.edu	37	2	218669209	218669209	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:218669209G>A	uc002vgt.2	-	32	5579	c.5181C>T	c.(5179-5181)gtC>gtT	p.V1727V	TNS1_uc002vgr.2_Silent_p.V1713V|TNS1_uc002vgs.2_Silent_p.V1706V|TNS1_uc002vgq.2_Silent_p.V227V	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1727						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)		CATTCAGCATGACCTTGGAGA	0.627000														65			18		0	0	0.007413	0	0
NFATC1	4772	broad.mit.edu	37	18	77170528	77170528	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:77170528C>T	uc010xfg.2	+	1	706	c.253C>T	c.(253-255)Cac>Tac	p.H85Y	NFATC1_uc002lnc.1_Missense_Mutation_p.H85Y|NFATC1_uc010xff.1_Missense_Mutation_p.H85Y|NFATC1_uc002lnd.3_Missense_Mutation_p.H85Y|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Missense_Mutation_p.H85Y|NFATC1_uc010xfi.1_Missense_Mutation_p.H72Y|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Missense_Mutation_p.H72Y|NFATC1_uc002lng.3_Missense_Mutation_p.H72Y|NFATC1_uc010xfk.2_Missense_Mutation_p.H72Y	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	85					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GCCGGCGGATCACCCCTCGGG	0.726000														28			19		0	0	0.007413	0	0
ZNF208	7757	broad.mit.edu	37	19	22157127	22157127	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:22157127C>T	uc021urr.1	-	3	858	c.709G>A	c.(709-711)Gcc>Acc	p.A237T	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTACTAAAGGCTTTGCCACAT	0.383000														26			15		0	0	0.003163	0	0
KRT28	162605	broad.mit.edu	37	17	38950178	38950178	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:38950178C>T	uc002hvh.1	-	5	1165	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	367	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.T366T(2)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TTCTGGCCCTCGGTCTCGGTT	0.552000														64			90		0	0	0.003610	0	0
EMR1	2015	broad.mit.edu	37	19	6904116	6904116	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:6904116C>T	uc002mfw.3	+	7	910	c.872C>T	c.(871-873)tCc>tTc	p.S291F	EMR1_uc010dvc.3_Missense_Mutation_p.S291F|EMR1_uc010dvb.3_Missense_Mutation_p.S239F|EMR1_uc010xji.2_Missense_Mutation_p.S150F|EMR1_uc010xjj.2_Intron	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	291	EGF-like 6; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GCCCTGGGCTCCTACAGCTGT	0.468000														41			15		0	0	0.006122	0	0
OR4N4	283694	broad.mit.edu	37	15	22383336	22383336	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:22383336C>T	uc001yuc.1	+	6	1845	c.864C>T	c.(862-864)acC>acT	p.T288T	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Silent_p.T288T	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	288					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)		TGATTTATACCCTTCGCAACC	0.403000														44			22		0	0	0.001882	0	0
MAST3	23031	broad.mit.edu	37	19	18255851	18255851	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:18255851C>T	uc002nhz.4	+	22	2764	c.2764C>T	c.(2764-2766)Ccg>Tcg	p.P922S		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	922	Ser-rich.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCCCCTTTCCCCGCGCTCTCT	0.687000														13			8		0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179590607	179590608	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179590607_179590608GA>AT	uc021vsy.1	-	66	16934_16935	c.16709_16710TC>AT	c.(16708-16710)ttc>tAT	p.F5570Y	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F2231Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6497	Ig-like 36.						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)			TACTTGTGTGGAAGTTTTTGGA	0.431000														23			11		0	0	0.004672	0	0
FNDC8	54752	broad.mit.edu	37	17	33457401	33457401	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:33457401G>A	uc002hix.3	+	3	1005	c.923G>A	c.(922-924)gGg>gAg	p.G308E		NM_017559	NP_060029	Q8TC99	FNDC8_HUMAN	Homo sapiens fibronectin type III domain containing 8 (FNDC8), mRNA.	308										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		GTGTCCATCGGGCCGGAGGAG	0.582000														21			39		0	0	0.005524	0	0
RPUSD2	27079	broad.mit.edu	37	15	40866035	40866035	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:40866035C>T	uc001zmd.1	+	2	1213	c.1213C>T	c.(1213-1215)Ccc>Tcc	p.P405S	RPUSD2_uc021sjh.1_Missense_Mutation_p.P344S	NM_152260	NP_689473	Q8IZ73	RUSD2_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 2 (RPUSD2), mRNA.	405					pseudouridine synthesis		RNA binding|protein binding|pseudouridine synthase activity			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		CGGCTACATTCCCAAGACAAA	0.577000														38			8		0	0	0.003080	0	0
UBQLN4	56893	broad.mit.edu	37	1	156006855	156006855	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:156006855G>A	uc001fna.3	-	10	1744	c.1720C>T	c.(1720-1722)Cgt>Tgt	p.R574C	UBQLN4_uc010pgx.2_Missense_Mutation_p.R554C	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	Homo sapiens ubiquilin 4 (UBQLN4), mRNA.	574	UBA.					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					TTAGCCTCACGATTGATGAAG	0.592000														118			16		0	0	0.007413	0	0
PRODH2	58510	broad.mit.edu	37	19	36290945	36290945	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:36290945G>A	uc002obx.1	-	10	1624	c.1606C>T	c.(1606-1608)Cac>Tac	p.H536Y	AK055260_uc002obw.1_5'Flank	NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	536					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGTGCTAGTGGGGTATCCTT	0.622000														16			6		0	0	0.001984	0	0
MUC17	140453	broad.mit.edu	37	7	100678106	100678106	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100678106G>A	uc003uxp.1	+	2	3462	c.3409G>A	c.(3409-3411)Gaa>Aaa	p.E1137K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1137	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCTACTGAAGCCAGTTC	0.532000														221			84		0	0	0.003610	0	0
GNG3	2785	broad.mit.edu	37	11	62476263	62476263	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:62476263C>T	uc001nuv.3	+	2	488	c.213C>T	c.(211-213)ttC>ttT	p.F71F	BSCL2_uc001nup.3_5'Flank|BSCL2_uc009yoc.2_5'Flank|BSCL2_uc001nur.4_5'Flank|BSCL2_uc001nut.4_Intron|BSCL2_uc009yod.3_Intron|HNRNPUL2_uc001nuu.2_Intron	NM_012202	NP_036334	P63215	GBG3_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 3 (GNG3), mRNA.	71					activation of MAPK activity|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission		GTPase activity|signal transducer activity	p.F70L(1)		kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	5						AGAAGTTCTTCTGTGCTCTCC	0.567000														50			27		0	0	0.006320	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166226	140166226	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140166226C>T	uc003lhb.2	+	0	351	c.351C>T	c.(349-351)ttC>ttT	p.F117F	PCDHAC2_uc003lha.2_Silent_p.F117F|PCDHAC2_uc003lgz.3_Silent_p.F117F	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	132	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTTTTCCATGTGGAGG	0.507000														43			8		0	0	0.004482	0	0
SBNO2	22904	broad.mit.edu	37	19	1127757	1127757	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:1127757G>A	uc002lrk.4	-	4	525	c.287C>T	c.(286-288)tCc>tTc	p.S96F	SBNO2_uc002lrj.4_Missense_Mutation_p.S39F|SBNO2_uc010dse.3_Missense_Mutation_p.S89F|SBNO2_uc010dsf.3_Missense_Mutation_p.S39F	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	96					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAAAATAGGAGGAGTCCTG	0.627000														25			6		0	0	0.001984	0	0
FER1L6	654463	broad.mit.edu	37	8	125015487	125015487	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:125015487C>T	uc003yqw.3	+	12	1806	c.1600C>T	c.(1600-1602)Cca>Tca	p.P534S	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	534						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGACCTCCTTCCACTGCTTCA	0.527000														36			28		0	0	0.005443	0	0
TTN	7273	broad.mit.edu	37	2	179424620	179424620	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179424620C>T	uc021vsy.1	-	274	78760	c.78535G>A	c.(78535-78537)Gaa>Aaa	p.E26179K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E19874K|TTN_uc021vta.1_Missense_Mutation_p.E19807K|TTN_uc021vtb.1_Missense_Mutation_p.E19682K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27106	Fibronectin type-III 90.						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)			TCTTCTCTTTCCTTTGCTATC	0.433000														61			25		0	0	0.003954	0	0
MB	4151	broad.mit.edu	37	22	36013288	36013288	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:36013288C>T	uc003anz.3	-	0	97	c.17G>A	c.(16-18)gGg>gAg	p.G6E	MB_uc003aoa.3_Missense_Mutation_p.G6E|MB_uc003aob.3_Missense_Mutation_p.G6E	NM_005368	NP_976312	P02144	MYG_HUMAN	Homo sapiens myoglobin (MB), transcript variant 1, mRNA.	6							heme binding|oxygen transporter activity			lung(1)	1						CTGCCATTCCCCGTCGCTGAG	0.577000														23			18		0	0	0.006122	0	0
ZNRF3	84133	broad.mit.edu	37	22	29446881	29446881	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:29446881C>T	uc003aeg.3	+	7	2712	c.2712C>T	c.(2710-2712)ttC>ttT	p.F904F	ZNRF3_uc021wnq.1_Silent_p.F804F	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	904						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GGGCCAACTTCCCTAGTGCCC	0.642000														16			6		0	0	0.001168	0	0
PPYR1	5540	broad.mit.edu	37	10	47087060	47087060	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:47087060C>T	uc001jee.3	+	2	696	c.277C>T	c.(277-279)Ctc>Ttc	p.L93F	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.L93F|PPYR1_uc021ppu.1_Missense_Mutation_p.L93F	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	93					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CATGTGCCTCCTCTGCCAGCC	0.562000														77			10		0	0	0.006214	0	0
SUFU	51684	broad.mit.edu	37	10	104309776	104309776	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:104309776C>T	uc001kvy.2	+	2	558	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C	SUFU_uc001kvw.2_Missense_Mutation_p.R123C|SUFU_uc001kvx.3_Missense_Mutation_p.R123C	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA.	123					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GTTGACCTTTCGTCTGAAGAG	0.478000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation					36			13		0	0	0.004007	0	0
EEF1E1	9521	broad.mit.edu	37	6	8097578	8097578	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:8097578G>A	uc003mxz.3	-	1	284	c.210C>T	c.(208-210)atC>atT	p.I70I	TXNDC5_uc021ylg.1_Non-coding_Transcript|EEF1E1_uc011dic.2_Silent_p.I70I	NM_004280	NP_004271	O43324	MCA3_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 epsilon 1 (EEF1E1), transcript variant 1, mRNA.	70	GST C-terminal.				negative regulation of cell proliferation|positive regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of apoptosis|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					ACTGCTGAACGATTGCTTTTT	0.428000														107			36		0	0	0.005524	0	0
IL21R	50615	broad.mit.edu	37	16	27441437	27441437	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:27441437G>A	uc002dor.2	+	2	659	c.111G>A	c.(109-111)caG>caA	p.Q37Q	IL21R_uc002doq.2_Silent_p.Q15Q|IL21R_uc002dos.2_Silent_p.Q15Q	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	15					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TGCTGCTCCAGGGAGGTAAGT	0.687000			T	BCL6	NHL									17			14		0	0	0.006122	0	0
INTS10	55174	broad.mit.edu	37	8	19684029	19684029	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:19684029C>T	uc022asn.1	+	8	1230	c.1099C>T	c.(1099-1101)Cat>Tat	p.H367Y	INTS10_uc003wzj.3_Missense_Mutation_p.H367Y	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	Homo sapiens integrator complex subunit 10 (INTS10), mRNA.	367					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TAAACACATCCATAAAAAGAG	0.388000														35			15		0	0	0.002450	0	0
MRO	83876	broad.mit.edu	37	18	48327874	48327874	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:48327874C>T	uc010dpa.3	-	5	621	c.472_splice	c.e5-1	p.E158_splice	MRO_uc010xdn.2_Intron|MRO_uc002lew.4_Splice_Site_p.E144_splice|MRO_uc010dpb.3_Intron|MRO_uc010dpc.3_Intron|MRO_uc002lex.4_Splice_Site_p.E144_splice	NM_001127176	NP_001120648	Q9BYG7	MSTRO_HUMAN	Homo sapiens maestro (MRO), transcript variant 4, mRNA.	144						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CTGTCGTTCTCCTGCGGTCCC	0.463000														128			29		0	0	0.003271	0	0
VWA3A	146177	broad.mit.edu	37	16	22163875	22163875	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:22163875G>A	uc010vbq.2	+	30	3421	c.3325G>A	c.(3325-3327)Gga>Aga	p.G1109R	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc002dkg.4_Missense_Mutation_p.G187R|VWA3A_uc010bxe.1_Missense_Mutation_p.G211R	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	1109	VWFA 2.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CTTCACCGGCGGACGCTATCA	0.557000														13			11		0	0	0.001855	0	0
MUC17	140453	broad.mit.edu	37	7	100682112	100682112	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100682112A>G	uc003uxp.1	+	2	7468	c.7415A>G	c.(7414-7416)gAg>gGg	p.E2472G	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2472	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGTTCTGAGGCTGGCACC	0.522000														186			68		0	0	0.003610	0	0
PRDM16	63976	broad.mit.edu	37	1	3102925	3102925	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:3102925C>T	uc001akf.3	+	1	356	c.274C>T	c.(274-276)Cca>Tca	p.P92S	PRDM16_uc001ake.3_Missense_Mutation_p.P92S|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Missense_Mutation_p.P92S	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	92	SET.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GTCCTCCATCCCAGGGGCTGG	0.662000			T	EVI1	"""MDS, AML"""									49			20		0	0	0.001882	0	0
FBLIM1	54751	broad.mit.edu	37	1	16095027	16095027	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:16095027C>A	uc001axd.1	+	5	886	c.443C>A	c.(442-444)cCa>cAa	p.P148Q	FBLIM1_uc001axe.1_Missense_Mutation_p.P148Q|FBLIM1_uc001axg.1_Missense_Mutation_p.P148Q|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	148	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CCACAGGCCCCAGCGGAGGGA	0.632000														29			18		4.96729e-08	5.45441e-08	0.008871	1	0
GARS	2617	broad.mit.edu	37	7	30642717	30642717	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:30642717C>T	uc003tbm.3	+	4	994	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C		NM_002047	NP_002038	P41250	SYG_HUMAN	Homo sapiens glycyl-tRNA synthetase (GARS), mRNA.	213					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	AGAATGTTTTCGTGCTGACCA	0.353000														42			25		0	0	0.004656	0	0
MIIP	60672	broad.mit.edu	37	1	12082306	12082306	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:12082306C>T	uc001ato.2	+	2	662	c.269C>T	c.(268-270)tCg>tTg	p.S90L		NM_021933	NP_068752	Q5JXC2	MIIP_HUMAN	Homo sapiens migration and invasion inhibitory protein (MIIP), mRNA.	90										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GTGGCCAGATCGGGGGTGGCC	0.677000														60			31		0	0	0.005524	0	0
LMO7	4008	broad.mit.edu	37	13	76397934	76397934	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:76397934C>T	uc021rkq.1	+	14	3209	c.2874C>T	c.(2872-2874)tcC>tcT	p.S958S	LMO7_uc010thv.2_Silent_p.S676S|LMO7_uc001vjt.1_Silent_p.S624S|LMO7_uc001vjv.3_Silent_p.S725S|LMO7_uc010thw.2_Silent_p.S575S|LMO7_uc001vjw.1_Silent_p.S631S	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1010						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)		CATTGTCTTCCACATCTGGTC	0.463000														18			13		0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179401219	179401219	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179401219C>T	uc021vsy.1	-	305	92776	c.92551G>A	c.(92551-92553)Gat>Aat	p.D30851N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D24546N|TTN_uc021vta.1_Missense_Mutation_p.D24479N|TTN_uc021vtb.1_Missense_Mutation_p.D24354N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31778	Fibronectin type-III 124.						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)			GCACCTCCATCACTGGCAGGT	0.403000														57			22		0	0	0.002780	0	0
GRIK3	2899	broad.mit.edu	37	1	37270698	37270698	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:37270698G>A	uc001caz.2	-	14	2590	c.2455C>T	c.(2455-2457)Cag>Tag	p.Q819*	GRIK3_uc001cba.1_Nonsense_Mutation_p.Q819*	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	819					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCGATCTTCTGGATCCCCAGG	0.597000														78			18		0	0	0.001882	0	0
POU5F2	134187	broad.mit.edu	37	5	93077220	93077220	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:93077220C>T	uc003kkl.1	-	0	90	c.50G>A	c.(49-51)gGt>gAt	p.G17D	FAM172A_uc010jbd.3_Intron|FAM172A_uc011cuf.2_Intron|FAM172A_uc011cug.2_Intron|FAM172A_uc011cuh.2_Intron|FAM172A_uc011cui.2_Intron|FAM172A_uc011cuj.2_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	Homo sapiens POU domain class 5, transcription factor 2 (POU5F2), mRNA.	17						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GCCGCCCCCACCACTGCCTGG	0.687000														7			3		0	0	0.004672	0	0
CD2	914	broad.mit.edu	37	1	117311250	117311250	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:117311250G>A	uc001egu.4	+	4	930	c.901G>A	c.(901-903)Gga>Aga	p.G301R		NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	301	Pro-rich.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CCCGCCTCCTGGACACCGTGT	0.602000														54			18		0	0	0.004990	0	0
SPRED3	399473	broad.mit.edu	37	19	38881044	38881044	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:38881044C>T	uc002oim.3	+	0	106	c.102C>T	c.(100-102)gtC>gtT	p.V34V	GGN_uc002oij.1_5'Flank|GGN_uc002oik.1_5'Flank|GGN_uc010efy.1_5'Flank|SPRED3_uc002oil.1_Silent_p.V34V	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 3 (SPRED3), transcript variant 1, mRNA.	34	WH1.				multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGTGTCGGGTCCGAGGGGCCA	0.731000														12			9		0	0	0.004482	0	0
CDHR4	389118	broad.mit.edu	37	3	49836294	49836294	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:49836294G>A	uc010hkz.3	-	3	469	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L	CDHR4_uc003cxp.2_Missense_Mutation_p.S179F|CDHR4_uc011bcw.2_Silent_p.L154L	NM_001007540	NP_001007541	A6H8M9	CDHR4_HUMAN	Homo sapiens cadherin-related family member 4 (CDHR4), mRNA.	154					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						GGGAGGAGCAGAGTGTACAGC	0.592000														14			5		0	0	0.000602	0	0
OR4X2	119764	broad.mit.edu	37	11	48267329	48267329	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:48267329G>A	uc001ngs.1	+	0	674	c.674G>A	c.(673-675)tGg>tAg	p.W225*		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTGAAGGGTGGTGCAAAGCC	0.537000														48			18		0	0	0.010504	0	0
LHFPL4	375323	broad.mit.edu	37	3	9543896	9543896	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:9543896C>T	uc003bry.3	-	3	1029	c.743G>A	c.(742-744)tGa>tAa	p.*248*		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	0						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					CCTGGCCTTTCAGGGTCCCTG	0.587000														24			6		0	0	0.003080	0	0
SIM1	6492	broad.mit.edu	37	6	100897528	100897528	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:100897528G>A	uc003pqj.4	-	3	863	c.396C>T	c.(394-396)gaC>gaT	p.D132D	SIM1_uc021zdg.1_Silent_p.D132D|SIM1_uc010kcu.3_Silent_p.D132D	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	132	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TCTCGTCGTGGTCTGCCGGGT	0.592000														51			15		0	0	0.004007	0	0
CSMD3	114788	broad.mit.edu	37	8	113392632	113392632	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:113392632A>T	uc003ynu.3	-	37	6244	c.6085T>A	c.(6085-6087)Ttt>Att	p.F2029I	CSMD3_uc003yns.3_Missense_Mutation_p.F1231I|CSMD3_uc003ynt.3_Missense_Mutation_p.F1989I|CSMD3_uc011lhx.2_Missense_Mutation_p.F1925I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2029	CUB 11.					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						TCTGATTGAAAATTTAGATAC	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				64			30		0	0	0.002836	0	0
ZBED2	79413	broad.mit.edu	37	3	111313022	111313022	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:111313022C>T	uc003dxy.3	-	1	928	c.27G>A	c.(25-27)gaG>gaA	p.E9E	CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Silent_p.E9E	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA.	9							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						TTGTTCCCTCCTCTTCCTCGT	0.453000														39			15		0	0	0.004990	0	0
SH3RF2	153769	broad.mit.edu	37	5	145442197	145442197	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:145442197C>T	uc003lnt.3	+	9	2361	c.2123C>T	c.(2122-2124)gCt>gTt	p.A708V	SH3RF2_uc011dbl.1_Missense_Mutation_p.A708V|SH3RF2_uc003lnu.3_Missense_Mutation_p.A199V|SH3RF2_uc011dbn.1_Missense_Mutation_p.A199V|SH3RF2_uc011dbo.2_Missense_Mutation_p.A165V	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	708							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAAAGTCAGCTCTTGGCAAG	0.592000														35			9		0	0	0.004482	0	0
ACAN	176	broad.mit.edu	37	15	89386841	89386841	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:89386841C>T	uc010upo.1	+	5	1387	c.1013C>T	c.(1012-1014)cCc>cTc	p.P338L	ACAN_uc002bmx.3_Missense_Mutation_p.P338L|ACAN_uc010upp.1_Missense_Mutation_p.P338L|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	338					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			ACGGGCTACCCCGACCCCTCA	0.647000														29			11		0	0	0.000978	0	0
DNAH3	55567	broad.mit.edu	37	16	21073850	21073850	+	Nonsense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:21073850T>A	uc010vbe.2	-	24	3673	c.3673A>T	c.(3673-3675)Aaa>Taa	p.K1225*		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1225	Stem (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)		ACAGTTTCTTTTTCCGAGCTG	0.428000														50			24		0	0	0.003330	0	0
LTBP2	4053	broad.mit.edu	37	14	75017968	75017968	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:75017968C>T	uc001xqa.3	-	6	1872	c.1485G>A	c.(1483-1485)cgG>cgA	p.R495R		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	495					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)		CCACCCCGCCCCGCACCTGGG	0.682000														5			10		0	0	0.008291	0	0
SHFM1	7979	broad.mit.edu	37	7	96339008	96339008	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:96339008G>A	uc003uoi.3	-	0	196	c.68C>T	c.(67-69)cCt>cTt	p.P23L	SHFM1_uc010lfn.1_Missense_Mutation_p.P23L	NM_006304	NP_006295	P60896	DSS1_HUMAN	Homo sapiens split hand/foot malformation (ectrodactyly) type 1 (SHFM1), mRNA.	23					proteolysis	proteasome complex	peptidase activity|protein binding			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					ACCTTCGGCAGGGAACTCTTC	0.597000								Homologous recombination						93			56		0	0	0.003610	0	0
ZNF592	9640	broad.mit.edu	37	15	85326275	85326275	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:85326275C>T	uc002bld.3	+	3	705	c.369C>T	c.(367-369)ttC>ttT	p.F123F	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	123					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCAGGAGTTTCCCTGGCAAAC	0.502000														40			26		0	0	0.003954	0	0
REM1	28954	broad.mit.edu	37	20	30064427	30064427	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:30064427C>T	uc002wwa.3	+	1	463	c.179C>T	c.(178-180)tCa>tTa	p.S60L		NM_014012	NP_054731	O75628	REM1_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.	60					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity|calmodulin binding			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CAGAAACCTTCACCTGCCCCA	0.612000														35			16		0	0	0.004007	0	0
APOA1	335	broad.mit.edu	37	11	116707873	116707873	+	Splice_Site	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:116707873C>A	uc001ppv.1	-	3	82	c.44_splice	c.e3-1	p.G15_splice		NM_000039	NP_000030	P02647	APOA1_HUMAN	Homo sapiens apolipoprotein A-I (APOA1), mRNA.	15					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cholesterol efflux|cholesterol homeostasis|cholesterol import|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		AGCCTGGCTCCCTGAGGGTGG	0.622000														184			14		1.05317e-09	1.15884e-09	0.002450	1	0
VPS13C	54832	broad.mit.edu	37	15	62256067	62256067	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:62256067C>T	uc002agz.3	-	31	3389	c.3298G>A	c.(3298-3300)Gaa>Aaa	p.E1100K	VPS13C_uc002aha.3_Missense_Mutation_p.E1057K|VPS13C_uc002ahb.2_Missense_Mutation_p.E1100K|VPS13C_uc002ahc.2_Missense_Mutation_p.E1057K	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1100					protein localization			p.E1100K(2)|p.N1099N(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTGTTCTTTTCGTTGCAAACA	0.348000														17			12		0	0	0.000978	0	0
MLH3	27030	broad.mit.edu	37	14	75513753	75513753	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:75513753G>A	uc001xrd.1	-	1	2822	c.2606C>T	c.(2605-2607)tCa>tTa	p.S869L	MLH3_uc001xre.1_Missense_Mutation_p.S869L|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	869					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGATTCAGATGACTTCTCAAG	0.383000								Mismatch excision repair (MMR)						123			22		0	0	0.002780	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5235159	5235159	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:5235159C>T	uc003jdl.3	+	12	2021	c.1883C>T	c.(1882-1884)tCc>tTc	p.S628F	ADAMTS16_uc003jdk.1_Missense_Mutation_p.S628F|ADAMTS16_uc010itk.1_Non-coding_Transcript	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	628	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGTGAGGGCTCCACTCGCACT	0.453000														41			7		0	0	0.004482	0	0
BTLA	151888	broad.mit.edu	37	3	112190185	112190185	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:112190185C>T	uc003dza.4	-	2	624	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	BTLA_uc003dzb.4_Intron	NM_181780	NP_861445	Q7Z6A9	BTLA_HUMAN	Homo sapiens B and T lymphocyte associated (BTLA), transcript variant 1, mRNA.	141					T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				GAGGGTCGTTCTGAGGCACTT	0.468000														40			23		0	0	0.006320	0	0
LIN28B	389421	broad.mit.edu	37	6	105474336	105474336	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:105474336A>T	uc003pqv.1	+	2	565	c.362A>T	c.(361-363)aAa>aTa	p.K121I	LIN28B_uc010kda.1_Missense_Mutation_p.K81I	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	Homo sapiens lin-28 homolog B (C. elegans) (LIN28B), mRNA.	121					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|protein binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ACACTACAGAAAAGAAAACCA	0.373000														53			27		0	0	0.005443	0	0
FRMPD1	22844	broad.mit.edu	37	9	37692689	37692689	+	Silent	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:37692689A>C	uc004aag.1	+	1	95	c.51A>C	c.(49-51)atA>atC	p.I17I	FRMPD1_uc004aah.1_Silent_p.I17I	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	17						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CACATAGAATAGAACAAATGG	0.473000														59			26		0	0	0.004656	0	0
SPEM1	374768	broad.mit.edu	37	17	7324787	7324787	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:7324787C>T	uc002ggv.3	+	2	818	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	SPEM1_uc010vtw.1_5'UTR	NM_199339	NP_955371	Q8N4L4	SPEM1_HUMAN	Homo sapiens spermatid maturation 1 (SPEM1), mRNA.	265					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				GTATGATGCCCGGGACATGAG	0.652000														13			7		0	0	0.001984	0	0
MGAM	8972	broad.mit.edu	37	7	141760126	141760126	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:141760126C>T	uc003vwy.3	+	33	4129	c.4075C>T	c.(4075-4077)Cct>Tct	p.P1359S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1359	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)	GCCTGATTTTCCTGATGTTGT	0.438000														31			13		0	0	0.004007	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679405	160679405	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:160679405C>T	uc003qtf.3	-	0	559	c.385G>A	c.(385-387)Gag>Aag	p.E129K	SLC22A2_uc003qth.2_Missense_Mutation_p.E129K	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	129					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CCAGGCGTCTCGTACACCCAG	0.622000														87			9		0	0	0.001368	0	0
SYT17	51760	broad.mit.edu	37	16	19194956	19194956	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:19194956G>A	uc002dfw.3	+	4	769	c.438G>A	c.(436-438)cgG>cgA	p.R146R	SYT17_uc002dfx.3_Silent_p.R85R|SYT17_uc002dfy.3_Silent_p.R142R	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	146						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TGCTCAGACGGACCTATAACC	0.542000														48			10		0	0	0.006214	0	0
SLC35G2	80723	broad.mit.edu	37	3	136574470	136574470	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:136574470G>A	uc003erf.4	+	1	1382	c.1168G>A	c.(1168-1170)Ggc>Agc	p.G390S	SLC35G2_uc003erg.4_Missense_Mutation_p.G390S|SLC35G2_uc010hub.3_Missense_Mutation_p.G390S|SLC35G2_uc021xem.1_Missense_Mutation_p.G390S	NM_001097600	NP_079522	Q8TBE7	TMM22_HUMAN	Homo sapiens transmembrane protein 22 (TMEM22), transcript variant 3, mRNA.	390	DUF6 2.					Golgi apparatus|integral to membrane											TGTCCTTGCTGGCTATAAACT	0.373000														65			25		0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179497392	179497392	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179497392G>A	uc021vsy.1	-	183	35862	c.35637C>T	c.(35635-35637)atC>atT	p.I11879I	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.I5574I|TTN_uc021vta.1_Silent_p.I5507I|TTN_uc021vtb.1_Silent_p.I5382I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12806	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCACCTGTGATTTCCTGGG	0.408000														109			74		0	0	0.003610	0	0
ADAM28	10863	broad.mit.edu	37	8	24193068	24193068	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:24193068G>A	uc003xdy.3	+	13	1564	c.1481G>A	c.(1480-1482)gGc>gAc	p.G494D	ADAM28_uc003xdx.3_Missense_Mutation_p.G494D|ADAM28_uc011kzz.2_Missense_Mutation_p.G261D|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.G181D	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	494	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.G494V(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAAGTCAATGGCTTCCCTTGC	0.527000														16			8		0	0	0.003080	0	0
ECM1	1893	broad.mit.edu	37	1	150482192	150482192	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:150482192C>T	uc001euv.3	+	2	376	c.177C>T	c.(175-177)caC>caT	p.H59H	ECM1_uc010pcf.2_5'UTR|ECM1_uc010pce.2_5'UTR|ECM1_uc001eus.3_Silent_p.H59H|ECM1_uc001eut.3_Silent_p.H59H|ECM1_uc009wlu.3_5'UTR	NM_001202858	NP_001189787	Q16610	ECM1_HUMAN	Homo sapiens extracellular matrix protein 1 (ECM1), transcript variant 3, mRNA.	59					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCATGGATCACCCTGACTCCT	0.597000														51			31		0	0	0.002836	0	0
RABEP2	79874	broad.mit.edu	37	16	28925752	28925752	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:28925752G>A	uc002drq.3	-	4	747	c.699C>T	c.(697-699)tcC>tcT	p.S233S	NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_Silent_p.S162S|RABEP2_uc010byn.3_Silent_p.S233S|RABEP2_uc002drr.3_Silent_p.S233S	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA.	233					endocytosis|protein transport	early endosome	GTPase activator activity|growth factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						AGGAGGAGATGGAGGCGCTGT	0.687000														16			12		0	0	0.001368	0	0
IRS2	8660	broad.mit.edu	37	13	110436664	110436665	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:110436664_110436665GG>AA	uc001vqv.3	-	0	2250_2251	c.1736_1737CC>TT	c.(1735-1737)acc>aTT	p.T579I		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	Homo sapiens insulin receptor substrate 2 (IRS2), mRNA.	579					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGGCTGGCGTGGTCAGGGAGTA	0.728000														11			13		0	0	0.004672	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140735401	140735401	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140735401C>T	uc003ljq.2	+	0	634	c.634C>T	c.(634-636)Ctc>Ttc	p.L212F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.L212F	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	212	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTCGTTCTCACGGCCTT	0.567000														1			3		0	0	0.004672	0	0
PACSIN1	29993	broad.mit.edu	37	6	34499442	34499443	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:34499442_34499443CC>TT	uc003ojo.3	+	8	1361_1362	c.1103_1104CC>TT	c.(1102-1104)ccc>cTT	p.P368L	PACSIN1_uc003ojp.3_Missense_Mutation_p.P368L	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 1 (PACSIN1), transcript variant 1, mRNA.	368					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AGTGGGAACCCCTTTGGGGGCA	0.629000														140			17		0	0	0.004672	0	0
PCSK9	255738	broad.mit.edu	37	1	55521827	55521827	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:55521827G>A	uc001cyf.2	+	5	1323	c.961G>A	c.(961-963)Gat>Aat	p.D321N	PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	321	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CTTCCGGGACGATGCCTGCCT	0.746000														113			22		0	0	0.003330	0	0
DSG3	1830	broad.mit.edu	37	18	29054237	29054237	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:29054237C>T	uc002kws.3	+	14	2364	c.2255C>T	c.(2254-2256)gCc>gTc	p.A752V	DSG3_uc002kwt.3_Missense_Mutation_p.A34V	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	752					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)			TTCGGAGCAGCCACTGGAGTT	0.537000														13			12		0	0	0.000978	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059648	11059648	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:11059648C>T	uc010hdq.3	+	3	769	c.358C>T	c.(358-360)Cct>Tct	p.P120S		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	120					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P120P(2)		breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GAAGCTGGCTCCTATGTTCAA	0.602000														100			44		0	0	0.003610	0	0
OR4M1	441670	broad.mit.edu	37	14	20248730	20248730	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20248730A>G	uc010tku.2	+	0	249	c.249A>G	c.(247-249)atA>atG	p.I83M		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAATGCTCATAGACTTCTTTG	0.448000														371			49		0	0	0.003610	0	0
SALL1	6299	broad.mit.edu	37	16	51173548	51173548	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:51173548C>T	uc021tif.1	-	1	2616	c.2294G>A	c.(2293-2295)aGc>aAc	p.S765N	SALL1_uc021tid.1_Missense_Mutation_p.S765N|SALL1_uc021tie.1_Missense_Mutation_p.S862N|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	862					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGCAGCGATGCTCGACATCTC	0.547000														53			17		0	0	0.006122	0	0
WIF1	11197	broad.mit.edu	37	12	65514243	65514243	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:65514243G>A	uc001ssk.3	-	1	617	c.242C>T	c.(241-243)cCt>cTt	p.P81L		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA.	81	WIF.				Wnt receptor signaling pathway|multicellular organismal development	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GATATTGACAGGAATAGCTGG	0.408000			T	HMGA2	pleomorphic salivary gland adenoma									32			26		0	0	0.006320	0	0
TTN	7273	broad.mit.edu	37	2	179497712	179497712	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179497712C>T	uc021vsy.1	-	182	35667	c.35442G>A	c.(35440-35442)ctG>ctA	p.L11814L	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.L5509L|TTN_uc021vta.1_Silent_p.L5442L|TTN_uc021vtb.1_Silent_p.L5317L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12741	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTCATACCCAGCTGACAGT	0.423000														55			39		0	0	0.004878	0	0
CDH9	1007	broad.mit.edu	37	5	26988489	26988489	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:26988489C>T	uc003jgs.1	-	2	121	c.-48_splice	c.e2-1		CDH9_uc010iug.3_Splice_Site	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.						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						GTTTGTTTTTCCTAAAGAGTA	0.313000														11			6		0	0	0.001168	0	0
KIF2B	84643	broad.mit.edu	37	17	51901025	51901025	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:51901025G>A	uc002iua.2	+	0	787	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	211	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.Q210E(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCCCCCGCAAGAACATCGCAT	0.537000														17			15		0	0	0.003163	0	0
CXorf66	347487	broad.mit.edu	37	X	139038210	139038210	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:139038210G>A	uc004fbb.3	-	2	953	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA.	311						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TCTAACTTACGAAAGGACCTG	0.368000														30			26		0	0	0.006320	0	0
OTOGL	283310	broad.mit.edu	37	12	80752495	80752495	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:80752495G>A	uc001szd.3	+	49	6145	c.6139G>A	c.(6139-6141)Gaa>Aaa	p.E2047K	OTOGL_uc021rba.1_Missense_Mutation_p.E66K|OTOGL_uc009zsg.2_5'UTR	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CAACTGTGCAGAAGATATGAA	0.318000														13			14		0	0	0.006122	0	0
RFX5	5993	broad.mit.edu	37	1	151314724	151314724	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:151314724C>T	uc001exv.1	-	10	2003	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K	RFX5_uc001exw.1_Missense_Mutation_p.E597K|RFX5_uc010pcx.1_Missense_Mutation_p.E557K	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.	597						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGCACATGCTCCTTTAAGTCT	0.463000														60			44		0	0	0.002852	0	0
BMP4	652	broad.mit.edu	37	14	54417562	54417562	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:54417562G>A	uc001xal.4	-	2	602	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C	BMP4_uc010aoh.3_Missense_Mutation_p.R139C|BMP4_uc001xao.4_Missense_Mutation_p.R139C|BMP4_uc001xan.4_Missense_Mutation_p.R139C	NM_130851	NP_570912	P12644	BMP4_HUMAN	Homo sapiens bone morphogenetic protein 4 (BMP4), transcript variant 3, mRNA.	139					BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|SMAD protein signal transduction|activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of MAP kinase activity|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of SMAD protein import into nucleus|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						AAGAGGAAACGAAAAGCAGAG	0.498000														22			17		0	0	0.007413	0	0
CCNA1	8900	broad.mit.edu	37	13	37016772	37016772	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:37016772G>A	uc001uvr.4	+	8	1718	c.1368G>A	c.(1366-1368)atG>atA	p.M456I	CCNA1_uc010teo.2_Missense_Mutation_p.M412I|CCNA1_uc010abq.3_Missense_Mutation_p.M412I|CCNA1_uc010abp.3_Missense_Mutation_p.M412I|CCNA1_uc001uvs.4_Missense_Mutation_p.M455I|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	456					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TGTCCCTCATGGAGCCACCTG	0.443000														38			9		0	0	0.006214	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55360232	55360232	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:55360232G>A	uc003pcn.3	-	7	1029	c.870C>T	c.(868-870)atC>atT	p.I290I	HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Silent_p.I260I|HMGCLL1_uc010jzx.3_Silent_p.I161I|HMGCLL1_uc011dxc.2_Silent_p.I228I|HMGCLL1_uc011dxd.2_Silent_p.I157I	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	290							hydroxymethylglutaryl-CoA lyase activity|metal ion binding	p.I290F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGGCCGTAAGGATATTTGCTA	0.388000														30			10		0	0	0.000978	0	0
VGLL3	389136	broad.mit.edu	37	3	87018049	87018049	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:87018049G>A	uc003dqn.3	-	2	992	c.628C>T	c.(628-630)Cct>Tct	p.P210S		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GATGTCAAAGGATAAGGCCAG	0.602000														54			24		0	0	0.003330	0	0
ITIH3	3699	broad.mit.edu	37	3	52836469	52836469	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:52836469C>T	uc003dfv.2	+	11	1539	c.1503C>T	c.(1501-1503)atC>atT	p.I501I	ITIH3_uc011bek.1_Silent_p.I501I	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	501					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GCTCTGAGATCGTGGTGGCCG	0.602000														31			10		0	0	0.001855	0	0
SLC39A13	91252	broad.mit.edu	37	11	47435027	47435027	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:47435027C>T	uc009ylq.3	+	4	790	c.614C>T	c.(613-615)cCc>cTc	p.P205L	SLC39A13_uc001nfd.3_Missense_Mutation_p.P205L|SLC39A13_uc001nfe.1_Non-coding_Transcript|SLC39A13_uc001nff.4_Missense_Mutation_p.P205L	NM_001128225	NP_001121697	Q96H72	S39AD_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 13 (SLC39A13), transcript variant 1, mRNA.	205					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		GCTGCAGAGCCCGGCCTCGGT	0.692000														33			9		0	0	0.006214	0	0
PGM5	5239	broad.mit.edu	37	9	71002416	71002416	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:71002416C>T	uc004agr.3	+	3	838	c.609C>T	c.(607-609)ctC>ctT	p.L203L		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	203					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	Z disc|costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ATCTTAACCTCCTTCGGACCA	0.438000														55			40		0	0	0.009718	0	0
KCTD11	147040	broad.mit.edu	37	17	7256688	7256688	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:7256688G>A	uc002gge.4	+	0	1481	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 11 (KCTD11), mRNA.	143					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CCGATTTGGTGTGGCCAGTGG	0.617000														33			44		0	0	0.003610	0	0
OR2J2	26707	broad.mit.edu	37	6	29142195	29142195	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:29142195C>T	uc011dlm.2	+	0	885	c.783C>T	c.(781-783)ctC>ctT	p.L261L		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GCATGTATCTCCAGCCACCAT	0.433000														71			33		0	0	0.002445	0	0
OR4K13	390433	broad.mit.edu	37	14	20502813	20502813	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20502813G>A	uc010tkz.2	-	0	105	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CAATCCCCACGAAGACCACAG	0.413000														22			11		0	0	0.000978	0	0
OR2T6	254879	broad.mit.edu	37	1	248551788	248551788	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248551788G>A	uc001iei.1	+	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L292L(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGTCTGAGGAACAGGGATG	0.458000														38			16		0	0	0.008871	0	0
PRHOXNB	646625	broad.mit.edu	37	13	28562651	28562652	+	Nonsense_Mutation	DNP	CC	AT	AT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:28562651_28562652CC>AT	uc010aan.1	-	0	123_124	c.123_124GG>AT	c.(121-126)ttggaa>ttATaa	p.E42*		NM_001105577	NP_001099047	A6NGE7	URAD_HUMAN	Homo sapiens parahox cluster neighbor (PRHOXNB), mRNA.	42					allantoin biosynthetic process|purine base metabolic process	peroxisome	carboxy-lyase activity			large_intestine(1)|lung(1)|stomach(1)	3	all_cancers(110;0.12)|all_hematologic(3;0.0119)|Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		TCTAAATCTTCCAAATCAGAGA	0.460000														41			6		0	0	0.004672	0	0
SHROOM4	57477	broad.mit.edu	37	X	50376915	50376915	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:50376915C>T	uc004dpe.2	-	3	2184	c.2158G>A	c.(2158-2160)Gga>Aga	p.G720R	SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Missense_Mutation_p.G604R	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	720					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCACGGACTCCACAGTGAGCA	0.577000														11			8		0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179423307	179423307	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179423307G>A	uc021vsy.1	-	275	79400	c.79175C>T	c.(79174-79176)tCc>tTc	p.S26392F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S20087F|TTN_uc021vta.1_Missense_Mutation_p.S20020F|TTN_uc021vtb.1_Missense_Mutation_p.S19895F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27319	Ig-like 127.						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)			CCAGGTCAGGGAAACACTGTC	0.388000														23			7		0	0	0.001984	0	0
MMP24	10893	broad.mit.edu	37	20	33834757	33834757	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:33834757C>T	uc002xbu.2	+	1	364	c.361C>T	c.(361-363)Ccg>Tcg	p.P121S	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	121					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TTACGGGATCCCGGTCACCGG	0.502000														46			27		0	0	0.006320	0	0
MYO5B	4645	broad.mit.edu	37	18	47421509	47421510	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:47421509_47421510GG>AT	uc002leb.2	-	21	3134_3135	c.2846_2847CC>AT	c.(2845-2847)tcc>tAT	p.S949Y	MYO5B_uc002lea.2_Missense_Mutation_p.S90Y	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	949					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGGTGGTCACGGACAACTGCTC	0.515000														42			16		0	0	0.004672	0	0
DCC	1630	broad.mit.edu	37	18	50278677	50278677	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:50278677C>T	uc002lfe.2	+	1	961	c.345C>T	c.(343-345)taC>taT	p.Y115Y	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	115	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGGGACTTTACCAATGTGAGG	0.453000														69			30		0	0	0.003755	0	0
ROR2	4920	broad.mit.edu	37	9	94486579	94486579	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:94486579G>A	uc004arj.2	-	8	2396	c.2197C>T	c.(2197-2199)Ccc>Tcc	p.P733S	ROR2_uc004ari.1_Missense_Mutation_p.P593S	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	733	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGCCGGCTGGGGAACTCGTTC	0.647000														32			28		0	0	0.008361	0	0
GNA11	2767	broad.mit.edu	37	19	3119228	3119228	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:3119228C>T	uc002lxd.3	+	5	1002	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L	DKFZp434J194_uc010xhe.2_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class) (GNA11), mRNA.	254					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GAGCAAAGCCCTGTTCCGGAC	0.612000			Mis		uveal melanoma									63			7		0	0	0.004482	0	0
SYNE1	23345	broad.mit.edu	37	6	152738117	152738117	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:152738117C>T	uc021zhb.1	-	38	5678	c.5455G>A	c.(5455-5457)Gaa>Aaa	p.E1819K	SYNE1_uc003qot.4_Missense_Mutation_p.E1826K|SYNE1_uc003qou.4_Missense_Mutation_p.E1819K|SYNE1_uc010kjb.1_Missense_Mutation_p.E1802K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1819					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCTGCAATTCGCCCTTTTTG	0.517000										HNSCC(10;0.0054)				71			18		0	0	0.007413	0	0
TECTA	7007	broad.mit.edu	37	11	120984337	120984337	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:120984337C>T	uc010rzo.2	+	4	700	c.700C>T	c.(700-702)Cag>Tag	p.Q234*		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	234	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGTGAATATCCAGGAGACCAC	0.493000														31			4		0	0	0.009096	0	0
PRKG1	5592	broad.mit.edu	37	10	54040643	54040643	+	Missense_Mutation	SNP	C	T	T	rs78350819		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:54040643C>T	uc001jjm.3	+	12	1681	c.1453C>T	c.(1453-1455)Ctc>Ttc	p.L485F	PRKG1_uc001jjo.3_Missense_Mutation_p.L500F|PRKG1_uc009xow.2_Missense_Mutation_p.L203F|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	485	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TTACAGGGACCTCAAGCCAGA	0.413000														28			11		0	0	0.008291	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482399	152482399	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:152482399C>T	uc022chs.1	-	0	612	c.612G>A	c.(610-612)atG>atA	p.M204I	MAGEA1_uc004fhf.2_Missense_Mutation_p.M204I	NM_004988	NP_004979	P43355	MAGA1_HUMAN	Homo sapiens melanoma antigen family A, 1 (directs expression of antigen MZ2-E) (MAGEA1), mRNA.	204	MAGE.					cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCGCCCTCCATTGCAATCA	0.547000														17			34		0	0	0.004878	0	0
SCN5A	6331	broad.mit.edu	37	3	38647622	38647622	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38647622C>T	uc021wvo.1	-	8	1210	c.1158G>A	c.(1156-1158)ggG>ggA	p.G386G	SCN5A_uc021wvk.1_Silent_p.G386G|SCN5A_uc021wvl.1_Silent_p.G386G|SCN5A_uc021wvm.1_Silent_p.G386G|SCN5A_uc021wvn.1_Silent_p.G386G|SCN5A_uc021wvp.1_Silent_p.G386G|SCN5A_uc021wvq.1_Silent_p.G386G|SCN5A_uc021wvr.1_Silent_p.G386G|SCN5A_uc021wvs.1_Silent_p.G386G|SCN5A_uc021wvt.1_Silent_p.G386G|SCN5A_uc021wvu.1_Silent_p.G386G|SCN5A_uc021wvv.1_Silent_p.G386G|SCN5A_uc021wvj.1_Silent_p.G252G|SCN5A_uc021wvi.1_Silent_p.G252G|SCN5A_uc021wvw.1_5'UTR	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	386					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGTAGATCTTCCCTGCGGACC	0.557000														29			17		0	0	0.010504	0	0
DNAH8	1769	broad.mit.edu	37	6	38875751	38875751	+	Missense_Mutation	SNP	G	A	A	rs146541069		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:38875751G>A	uc021yzh.1	+	63	9477	c.9368G>A	c.(9367-9369)cGa>cAa	p.R3123Q	DNAH8_uc003ooe.2_Missense_Mutation_p.R2906Q|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTGTTTGCACGAGATGAGATG	0.413000														39			27		0	0	0.007291	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72191409	72191409	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:72191409G>A	uc001xms.3	+	16	4895	c.4534G>A	c.(4534-4536)Gaa>Aaa	p.E1512K	SIPA1L1_uc001xmt.3_Missense_Mutation_p.E1491K|SIPA1L1_uc001xmu.3_Missense_Mutation_p.E1491K|SIPA1L1_uc001xmv.3_Missense_Mutation_p.E1512K|SIPA1L1_uc010ttm.2_Missense_Mutation_p.E966K	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1512					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CGATGGCAATGAAATAGCCCA	0.493000														26			17		0	0	0.002299	0	0
SPTB	6710	broad.mit.edu	37	14	65249076	65249076	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:65249076C>T	uc001xht.3	-	18	4249	c.4198G>A	c.(4198-4200)Gac>Aac	p.D1400N	SPTB_uc001xhr.3_Missense_Mutation_p.D1400N|SPTB_uc001xhs.3_Missense_Mutation_p.D1400N|SPTB_uc001xhu.3_Missense_Mutation_p.D1400N|SPTB_uc010aqi.3_Missense_Mutation_p.D61N	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1400					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CGCAGCTGGTCCTCCATGGCG	0.587000														45			40		0	0	0.008740	0	0
BCAM	4059	broad.mit.edu	37	19	45315788	45315788	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:45315788G>A	uc002ozu.3	+	3	531	c.487G>A	c.(487-489)Gag>Aag	p.E163K	BCAM_uc002ozt.1_Missense_Mutation_p.E163K	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	163	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GTCTGTGATGGAGGACTCTGC	0.647000														213			86		0	0	0.003610	0	0
CDH23	64072	broad.mit.edu	37	10	73464754	73464754	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:73464754C>T	uc001jrx.4	+	23	3204	c.2814C>T	c.(2812-2814)atC>atT	p.I938I	CDH23_uc001jry.3_Silent_p.I938I|CDH23_uc001jrz.3_Silent_p.I938I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	940	Cadherin 9.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACTTCCTCATCAACAGCAGCA	0.672000														55			13		0	0	0.002450	0	0
MAP7	9053	broad.mit.edu	37	6	136742909	136742909	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:136742909C>T	uc011edg.2	-	1	411	c.162G>A	c.(160-162)aaG>aaA	p.K54K	MAP7_uc011edf.2_Silent_p.K17K|MAP7_uc010kgu.3_Silent_p.K54K|MAP7_uc011edh.2_Silent_p.K54K|MAP7_uc010kgv.3_Silent_p.K54K|MAP7_uc010kgs.3_5'UTR|MAP7_uc011edi.2_5'UTR|MAP7_uc010kgq.2_Silent_p.K32K|MAP7_uc003qgz.3_Silent_p.K32K|MAP7_uc003qha.2_Silent_p.K32K|MAP7_uc010kgr.2_Intron|MAP7_uc010kgt.2_Silent_p.K54K	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	32					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AGGCATTTTTCTTATCTTGCA	0.378000														86			10		0	0	0.000978	0	0
ANKRD55	79722	broad.mit.edu	37	5	55407155	55407155	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:55407155G>A	uc003jqu.3	-	9	1572	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	ANKRD55_uc003jqt.3_Nonsense_Mutation_p.R186*	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	Homo sapiens ankyrin repeat domain 55 (ANKRD55), mRNA.	473										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TGCTCACTTCGACTTTTCTGA	0.468000														48			16		0	0	0.004007	0	0
CAMK2D	817	broad.mit.edu	37	4	114378625	114378625	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:114378625C>T	uc003ibi.3	-	16	2158	c.1299G>A	c.(1297-1299)agG>agA	p.R433R	CAMK2D_uc003ibj.3_Silent_p.R433R|CAMK2D_uc003ibk.3_Silent_p.R433R|CAMK2D_uc003ibo.4_Silent_p.R467R|CAMK2D_uc003ibm.2_Silent_p.R447R|CAMK2D_uc003ibn.2_Silent_p.R444R|CAMK2D_uc003ibl.2_Silent_p.R433R	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II delta (CAMK2D), transcript variant 3, mRNA.	433					interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		ACTGTGTGAGCCTAATATATG	0.458000														35			34		0	0	0.002445	0	0
CFB	629	broad.mit.edu	37	6	31915126	31915126	+	Splice_Site	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:31915126G>T	uc003nyj.4	+	4	763	c.485_splice	c.e4-1	p.A162_splice	CFB_uc011dor.2_Splice_Site_p.A664_splice|CFB_uc003nyi.2_Splice_Site_p.A162_splice	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	162					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCTCTGCAGCGGGGTACTGCT	0.607000														190			67		9.65139e-37	1.06801e-36	0.003610	1	0
SYT10	341359	broad.mit.edu	37	12	33535419	33535420	+	Nonsense_Mutation	DNP	CG	TA	TA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:33535419_33535420CG>TA	uc001rll.1	-	4	1531_1532	c.1234_1235CG>TA	c.(1234-1236)cga>TAa	p.R412*	SYT10_uc009zju.1_Nonsense_Mutation_p.R222*	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	412	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTTAATCTTCGACCTTCACAC	0.347000														17			21		0	0	0.004672	0	0
CPT1C	126129	broad.mit.edu	37	19	50212046	50212046	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:50212046G>A	uc010eng.3	+	13	1832	c.1516G>A	c.(1516-1518)Gac>Aac	p.D506N	CPT1C_uc002ppl.4_Missense_Mutation_p.D472N|CPT1C_uc002ppi.3_Missense_Mutation_p.D423N|CPT1C_uc002ppk.3_Missense_Mutation_p.D495N|CPT1C_uc010enh.3_Missense_Mutation_p.D506N|CPT1C_uc002ppj.3_Missense_Mutation_p.D506N|CPT1C_uc010ybc.1_Missense_Mutation_p.D377N|CPT1C_uc010eni.1_Missense_Mutation_p.D163N	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	506					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.P505P(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGGGCACCCGGACCCCACACT	0.597000														74			31		0	0	0.003271	0	0
AADACL2	344752	broad.mit.edu	37	3	151475146	151475146	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:151475146G>A	uc003ezc.3	+	4	1090	c.970G>A	c.(970-972)Gat>Aat	p.D324N	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.D111N	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	324						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GTTGGCCAATGATTCTCAGTT	0.363000														69			21		0	0	0.003954	0	0
PAPPA2	60676	broad.mit.edu	37	1	176664920	176664920	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:176664920C>T	uc001gkz.3	+	6	3835	c.2671C>T	c.(2671-2673)Cgt>Tgt	p.R891C	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	891					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGGACCTTTCGTCAGTATGT	0.532000														55			19		0	0	0.002299	0	0
OR13F1	138805	broad.mit.edu	37	9	107267146	107267146	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:107267146G>A	uc011lvm.2	+	0	603	c.603G>A	c.(601-603)gtG>gtA	p.V201V		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCATGCTGGTGATCAGTGTAC	0.433000														113			37		0	0	0.007835	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610592	47610592	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:47610592G>A	uc001cqv.1	+	8	1223	c.1172G>A	c.(1171-1173)aGa>aAa	p.R391K	CYP4A22_uc009vyo.3_Missense_Mutation_p.R391K|CYP4A22_uc009vyp.3_Missense_Mutation_p.R293K	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	391						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						GGCATTGGAAGAGAGCTCAGC	0.577000														26			13		0	0	0.007413	0	0
FAM113A	64773	broad.mit.edu	37	20	2816919	2816920	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:2816919_2816920GG>AA	uc002wgz.1	-	6	1379_1380	c.882_883CC>TT	c.(880-885)ttccag>ttTTag	p.Q295*	FAM113A_uc010zqa.1_Nonsense_Mutation_p.Q142*|FAM113A_uc002whc.1_Nonsense_Mutation_p.Q244*	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	Homo sapiens family with sequence similarity 113, member A (FAM113A), mRNA.	295							hydrolase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(4)	17						TGGCTTCCCTGGAATGGATGAT	0.584000														69			29		0	0	0.004672	0	0
GPR148	344561	broad.mit.edu	37	2	131487355	131487355	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:131487355C>T	uc002trv.2	+	0	713	c.631C>T	c.(631-633)Ccg>Tcg	p.P211S		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	211						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					GGGCACCCAGCCGGGATGTGG	0.542000														59			18		0	0	0.006122	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045755	142045755	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142045755C>T	uc003vxp.4	+	1	392	c.283C>T	c.(283-285)Ctt>Ttt	p.L95F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		TCACTTATTCCTTCACCTACA	0.502000														168			41		0	0	0.003610	0	0
CLEC16A	23274	broad.mit.edu	37	16	11272318	11272318	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:11272318G>A	uc021tcy.1	+	23	3163	c.2933G>A	c.(2932-2934)aGc>aAc	p.S978N	CLEC16A_uc002dao.3_Missense_Mutation_p.S976N|CLEC16A_uc002dap.3_Missense_Mutation_p.S65N	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	978								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GAGACAGCCAGCCTGTCCCCC	0.627000														51			10		0	0	0.006214	0	0
EWSR1	2130	broad.mit.edu	37	22	29693828	29693828	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:29693828C>G	uc003aet.3	+	12	1634	c.1306C>G	c.(1306-1308)Caa>Gaa	p.Q436E	EWSR1_uc003aev.3_Missense_Mutation_p.Q441E|EWSR1_uc003aex.3_Missense_Mutation_p.Q435E|EWSR1_uc003aew.3_Missense_Mutation_p.Q380E|EWSR1_uc003aey.3_Missense_Mutation_p.Q231E|EWSR1_uc003aez.3_Missense_Mutation_p.Q97E	NM_005243	NP_005234	Q01844	EWS_HUMAN	Homo sapiens Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant 2, mRNA.	436	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	RNA binding|calmodulin binding|nucleotide binding|zinc ion binding	p.Q436*(2)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAAAGATTTTCAAGGGAGCAA	0.512000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""									56			8		0	0	0.003080	0	0
ITGB8	3696	broad.mit.edu	37	7	20441433	20441433	+	Silent	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:20441433A>G	uc003suu.3	+	9	2076	c.1371A>G	c.(1369-1371)gaA>gaG	p.E457E	ITGB8_uc011jyh.2_Silent_p.E322E	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	457					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GTTTTAATGAAACCGCTAAAA	0.343000														65			27		0	0	0.008361	0	0
KIAA1274	27143	broad.mit.edu	37	10	72298652	72298652	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:72298652A>C	uc001jrd.4	+	12	1738	c.1457A>C	c.(1456-1458)gAg>gCg	p.E486A	KIAA1274_uc001jre.4_5'Flank	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	486										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						CCACAGCGGGAGGACGATCTG	0.677000														25			6		0	0	0.001984	0	0
ASTN2	23245	broad.mit.edu	37	9	119739047	119739047	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:119739047C>T	uc004bjt.2	-	6	1557	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	ASTN2_uc022bml.1_Missense_Mutation_p.E186K|ASTN2_uc022bmm.1_Missense_Mutation_p.E186K	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	537						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCATAGCCTTCATGACAGCTG	0.483000														13			23		0	0	0.004656	0	0
CTNNA3	29119	broad.mit.edu	37	10	67862927	67862927	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:67862927C>T	uc009xpn.1	-	13	2088	c.1965G>A	c.(1963-1965)ggG>ggA	p.G655G	CTNNA3_uc001jmw.2_Silent_p.G655G	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	655					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TATCAGTTTTCCCTTCGGTCT	0.493000														21			14		0	0	0.003163	0	0
GDF2	2658	broad.mit.edu	37	10	48413840	48413840	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:48413840C>T	uc001jfa.1	-	1	1188	c.1028G>A	c.(1027-1029)aGc>aAc	p.S343N		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	343					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						AATGATCCAGCTGTCCCAGCC	0.597000														26			10		0	0	0.000978	0	0
CAPN13	92291	broad.mit.edu	37	2	30966371	30966371	+	Silent	SNP	G	A	A	rs140029412	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:30966371G>A	uc021vfn.1	-	11	1355	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Silent_p.F437F|CAPN13_uc002rno.3_5'UTR	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	441					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGTTGCGGCGGAATTTATTAT	0.458000														109			29		0	0	0.006320	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596669	11596669	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:11596669C>T	uc001ash.4	+	20	4243	c.4105C>T	c.(4105-4107)Ctg>Ttg	p.L1369L		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1369					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGCAGGGGCCCTGGGGCTGGG	0.682000														10			9		0	0	0.006214	0	0
PELI2	57161	broad.mit.edu	37	14	56763339	56763339	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:56763339C>T	uc001xch.3	+	5	1004	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA.	240					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GACCAACGTCCTGCAGGACGG	0.473000														27			24		0	0	0.003954	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274276	103274276	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:103274276C>T	uc002tca.3	+	1	685	c.543C>T	c.(541-543)tcC>tcT	p.S181S		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	181						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTTGGAATTCCATTGGCATTG	0.498000														115			82		0	0	0.003610	0	0
SFMBT2	57713	broad.mit.edu	37	10	7214518	7214518	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:7214518G>A	uc009xio.2	-	17	2181	c.2090C>T	c.(2089-2091)tCc>tTc	p.S697F	SFMBT2_uc001ijn.2_Missense_Mutation_p.S697F|SFMBT2_uc010qay.2_Missense_Mutation_p.S532F	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	697					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CACGAAAATGGATTTCCGTCG	0.602000														25			9		0	0	0.004482	0	0
NTRK1	4914	broad.mit.edu	37	1	156843675	156843675	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:156843675C>T	uc001fqh.1	+	7	1157	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	NTRK1_uc001fqf.1_Silent_p.F337F|NTRK1_uc009wsi.1_Silent_p.F72F|NTRK1_uc001fqi.1_Silent_p.F367F|NTRK1_uc009wsk.1_Silent_p.F367F	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	367					Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CCAACCCCTTCGGCCAGGCCT	0.647000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				8			3		0	0	0.004672	0	0
GPR31	2853	broad.mit.edu	37	6	167570663	167570663	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:167570663C>T	uc011egq.2	-	0	657	c.657G>A	c.(655-657)cgG>cgA	p.R219R		NM_005299	NP_005290	O00270	GPR31_HUMAN	Homo sapiens G protein-coupled receptor 31 (GPR31), mRNA.	219						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		GTGCCTGGGCCCGCTGAAGCT	0.572000														51			8		0	0	0.003080	0	0
LILRB2	10288	broad.mit.edu	37	19	54783313	54783313	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:54783313G>A	uc002qfb.3	-	4	811	c.545C>T	c.(544-546)tCc>tTc	p.S182F	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.S182F|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.S182F|LILRB2_uc010yet.2_Missense_Mutation_p.S66F|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	182	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGCCCACGGAGAAGATGGC	0.577000														42			25		0	0	0.005443	0	0
GK2	2712	broad.mit.edu	37	4	80329209	80329209	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:80329209T>C	uc003hlu.3	-	0	164	c.146A>G	c.(145-147)aAa>aGa	p.K49R		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	49					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CCATCCTTCTTTTGGGAACTC	0.418000														35			31		0	0	0.008361	0	0
ERC2	26059	broad.mit.edu	37	3	56044597	56044597	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:56044597C>T	uc021wzo.1	-	7	1940	c.1800G>A	c.(1798-1800)ttG>ttA	p.L600L	ERC2_uc003dhr.1_Silent_p.L600L|ERC2_uc003dht.1_Silent_p.L71L	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	600						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.R599C(1)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCTGTTCTTTCAAGCGCTCAA	0.388000														96			40		0	0	0.008740	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963763	88963763	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:88963763G>A	uc011khi.2	+	3	2005	c.1467G>A	c.(1465-1467)aaG>aaA	p.K489K		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	489						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GGAACACAAAGGAAGACCACA	0.408000										HNSCC(36;0.09)				19			10		0	0	0.000978	0	0
DSCAM	1826	broad.mit.edu	37	21	41725641	41725641	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:41725641C>T	uc002yyq.1	-	4	1137	c.685G>A	c.(685-687)Gat>Aat	p.D229N	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.	229	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCAAACCCATCCAGTATGGAT	0.517000														4			5		0	0	0.001168	0	0
TTLL10	254173	broad.mit.edu	37	1	1115497	1115497	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:1115497G>A	uc001acy.2	+	5	434	c.283G>A	c.(283-285)Gga>Aga	p.G95R	AK128833_uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Missense_Mutation_p.G95R|TTLL10_uc001acz.2_Missense_Mutation_p.G22R	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	95					protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGACGCAGATGGACACTGTGG	0.687000														19			5		0	0	0.001168	0	0
CNTN5	53942	broad.mit.edu	37	11	100126527	100126527	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:100126527G>A	uc001pga.3	+	16	2545	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	CNTN5_uc001pfz.3_Missense_Mutation_p.E681K|CNTN5_uc021qpb.1_Missense_Mutation_p.E681K|CNTN5_uc021qpc.1_Missense_Mutation_p.E607K|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	681	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AATTGTTGAGGAAATAACCGA	0.478000														45			20		0	0	0.008871	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047200	42047200	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:42047200G>A	uc001cgz.4	-	3	4482	c.3269C>T	c.(3268-3270)tCt>tTt	p.S1090F	HIVEP3_uc001cha.4_Missense_Mutation_p.S1090F|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1090					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGTGGCCGCAGAGGAAATCTG	0.607000														66			7		0	0	0.001984	0	0
HMG20B	10362	broad.mit.edu	37	19	3574473	3574473	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:3574473C>T	uc002lya.3	+	3	308	c.240C>T	c.(238-240)ttC>ttT	p.F80F	HMG20B_uc010dtm.1_3'UTR|HMG20B_uc002lyb.3_5'UTR|HMG20B_uc010xhn.1_Silent_p.F80F	NM_006339	NP_006330	Q9P0W2	HM20B_HUMAN	Homo sapiens high mobility group 20B (HMG20B), mRNA.	80					blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTGCGCTTCCTGAACGAGC	0.642000														10			6		0	0	0.003080	0	0
ST14	6768	broad.mit.edu	37	11	130066489	130066489	+	Silent	SNP	C	T	T	rs138855512		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:130066489C>T	uc001qfw.3	+	10	1441	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F	ST14_uc010sca.1_Silent_p.F226F	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	416	CUB 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GGTCCCAGTTCGTCGTCACCA	0.617000														17			17		0	0	0.006122	0	0
DNAAF1	123872	broad.mit.edu	37	16	84203719	84203719	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:84203719G>A	uc002fhl.4	+	7	1466	c.1285G>A	c.(1285-1287)Gtt>Att	p.V429I	DNAAF1_uc010vnw.2_Missense_Mutation_p.V193I	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.	429	Pro-rich.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						ACCTGTGGAGGTTAAAGGAGA	0.617000														57			12		0	0	0.001368	0	0
COL18A1	80781	broad.mit.edu	37	21	46893817	46893817	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:46893817C>T	uc002zhi.3	+	2	1221	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	COL18A1_uc002zhg.3_Silent_p.I220I	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	635	FZ.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		AGGGGGTGATCGCTGAGCTGA	0.637000														3			4		0	0	0.000602	0	0
CLDN2	9075	broad.mit.edu	37	X	106171926	106171926	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:106171926G>A	uc022ccd.1	+	0	468	c.468G>A	c.(466-468)atG>atA	p.M156I	MORC4_uc004emp.4_Intron|CLDN2_uc004emq.1_Missense_Mutation_p.M156I|CLDN2_uc022ccc.1_Missense_Mutation_p.M156I|CLDN2_uc004emt.2_Missense_Mutation_p.M156I	NM_020384	NP_065117	P57739	CLD2_HUMAN	Homo sapiens claudin 2 (CLDN2), transcript variant 1, mRNA.	156					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.M156I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CTGACAGCATGAAATTTGAGA	0.478000														25			51		0	0	0.003610	0	0
ATG7	10533	broad.mit.edu	37	3	11389500	11389500	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:11389500C>T	uc003bwc.3	+	11	1392	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	ATG7_uc003bwd.3_Silent_p.F425F|ATG7_uc011aum.2_Silent_p.F386F	NM_006395	NP_006386	O95352	ATG7_HUMAN	Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA.	425					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AGAAAATATTCCCCGGTGTGG	0.478000														133			21		0	0	0.002780	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12855945	12855945	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:12855945C>T	uc001auj.2	+	3	1328	c.1225C>T	c.(1225-1227)Ctg>Ttg	p.L409L		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	409										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGTTAAGCCTGGAGACGTA	0.537000														100			34		0	0	0.002852	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415615	210415616	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:210415615_210415616CC>TT	uc001hhy.3	+	3	1183_1184	c.1004_1005CC>TT	c.(1003-1005)tcc>tTT	p.S335F	SERTAD4_uc009xcw.3_Missense_Mutation_p.S335F	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA.	335							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TGGAAAAAGTCCTTACGGAAAA	0.391000														35			18		0	0	0.004672	0	0
AKAP9	10142	broad.mit.edu	37	7	91718797	91718797	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:91718797G>A	uc003ulg.3	+	37	9537	c.9312G>A	c.(9310-9312)agG>agA	p.R3104R	AKAP9_uc003ulf.3_Silent_p.R3096R|AKAP9_uc003uli.3_Silent_p.R2727R|AKAP9_uc003ulj.3_Silent_p.R874R|AKAP9_uc003ulk.3_Silent_p.R379R|AKAP9_uc003ull.3_5'Flank	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3108					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGAATGGTAGGAAAATTACTC	0.393000			T	BRAF	papillary thyroid									42			7		0	0	0.001984	0	0
MYO18B	84700	broad.mit.edu	37	22	26194048	26194048	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:26194048G>A	uc003abz.1	+	11	2755	c.2505G>A	c.(2503-2505)gcG>gcA	p.A835A	MYO18B_uc003aca.1_Silent_p.A716A|MYO18B_uc010guy.1_Silent_p.A716A|MYO18B_uc010guz.1_Silent_p.A716A|MYO18B_uc011aka.1_Intron|MYO18B_uc011akb.1_Silent_p.A348A	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	835	Myosin head-like.		A -> G (in a lung squamous cell carcinoma sample; somatic mutation).			nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.A835E(1)		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						ACCTGGGTGCGGCGGGGGCCT	0.662000														12			11		0	0	0.000978	0	0
MUC16	94025	broad.mit.edu	37	19	9063963	9063963	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9063963G>A	uc002mkp.3	-	2	23687	c.23483C>T	c.(23482-23484)tCc>tTc	p.S7828F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7830	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S7828Y(3)|p.S3461Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGGTCAGGGAGGAAGCTAG	0.542000														65			7		0	0	0.003080	0	0
MEFV	4210	broad.mit.edu	37	16	3298943	3298943	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:3298943C>T	uc002cun.1	-	3	1362	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q	MEFV_uc021tbw.1_Missense_Mutation_p.R230Q|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Intron|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	441					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCCATAGGATCGCTGCTCCTC	0.517000														89			46		0	0	0.003610	0	0
GCN1L1	10985	broad.mit.edu	37	12	120576637	120576637	+	Silent	SNP	G	A	A	rs61733796	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:120576637G>A	uc001txo.3	-	45	6031	c.6018C>T	c.(6016-6018)ctC>ctT	p.L2006L		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	2006					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGTGGGCACGAGGGATTCAG	0.557000														47			64		0	0	0.003610	0	0
NEB	4703	broad.mit.edu	37	2	152370118	152370118	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:152370118C>T	uc021vrb.1	-	130	18143	c.18114G>A	c.(18112-18114)agG>agA	p.R6038R	NEB_uc002txr.3_Silent_p.R2504R|NEB_uc002txu.3_Silent_p.R7739R|NEB_uc021vrc.1_Silent_p.R7739R|NEB_uc010fnx.3_Silent_p.R6026R|NEB_uc021vrd.1_Silent_p.R6038R|NEB_uc002txt.4_Silent_p.R543R	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	6038					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)		CAGTAGCATTCCTGGCCCTCA	0.428000														13			7		0	0	0.003080	0	0
FAM170A	340069	broad.mit.edu	37	5	118969875	118969875	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:118969875G>A	uc003ksm.2	+	2	642	c.432G>A	c.(430-432)gaG>gaA	p.E144E	FAM170A_uc003ksl.2_Silent_p.E144E|FAM170A_uc003ksn.3_Silent_p.E144E|FAM170A_uc003kso.3_Silent_p.E97E	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	144						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TCTCCTGGGAGACAGAGGAAA	0.473000														41			20		0	0	0.002299	0	0
LILRB1	10859	broad.mit.edu	37	19	55146120	55146120	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55146120C>T	uc002qgj.3	+	10	1729	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	LILRB1_uc010erp.1_Silent_p.I78I|LILRB1_uc002qgl.3_Silent_p.I463I|LILRB1_uc002qgk.3_Silent_p.I464I|LILRB1_uc002qgm.3_Silent_p.I464I|LILRB1_uc010erq.3_Silent_p.I447I|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	463					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.I463I(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGGTTGTGATCGGCATCTTGG	0.567000										HNSCC(37;0.09)				21			5		0	0	0.000602	0	0
ITGA4	3676	broad.mit.edu	37	2	182350645	182350645	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:182350645G>A	uc002unu.3	+	9	1842	c.1079G>A	c.(1078-1080)gGa>gAa	p.G360E	ITGA4_uc010zfl.1_Missense_Mutation_p.G360E	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	360					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AACCTCGTTGGAAGTGACAAA	0.368000														25			18		0	0	0.002299	0	0
CCDC169-SOHLH2	100526761	broad.mit.edu	37	13	36744763	36744763	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:36744763G>A	uc010tei.2	-	14	1708	c.1393C>T	c.(1393-1395)Cat>Tat	p.H465Y	CCDC169-SOHLH2_uc001uvj.3_Missense_Mutation_p.H388Y	NM_001198910	NP_001185839	B4DX90	B4DX90_HUMAN	Homo sapiens CCDC169-SOHLH2 readthrough (CCDC169-SOHLH2), mRNA.	465					regulation of transcription, DNA-dependent	nucleus		p.H388N(1)									GAAGGTAAATGAATTGAAATG	0.483000														38			25		0	0	0.003954	0	0
FGF5	2250	broad.mit.edu	37	4	81188190	81188190	+	Missense_Mutation	SNP	G	A	A	rs139356908		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:81188190G>A	uc003hmd.3	+	0	449	c.212G>A	c.(211-213)gGa>gAa	p.G71E	FGF5_uc003hme.3_Missense_Mutation_p.G71E	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	71					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	p.G71V(2)|p.G71*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GGCAGCCAAGGAAGTGGCTTG	0.612000														47			20		0	0	0.002299	0	0
NES	10763	broad.mit.edu	37	1	156642749	156642749	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:156642749G>A	uc001fpq.3	-	3	1364	c.1231C>T	c.(1231-1233)Cct>Tct	p.P411S	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	411	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGAGAGAGAGGAGCATCCTGG	0.657000														87			40		0	0	0.007835	0	0
DCHS2	54798	broad.mit.edu	37	4	155256162	155256162	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:155256162G>A	uc003inw.2	-	7	1074	c.1074C>T	c.(1072-1074)gtC>gtT	p.V358V	DCHS2_uc003inx.2_Silent_p.V857V	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	358	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CGGCATTAATGACAGCTGTGA	0.433000														10			15		0	0	0.002450	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137682	63137682	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:63137682C>T	uc001nww.3	+	0	422	c.154C>T	c.(154-156)Cac>Tac	p.H52Y	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	52					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGCTGGGTCCACATCCTGGA	0.488000														123			44		0	0	0.003610	0	0
PCSK9	255738	broad.mit.edu	37	1	55512300	55512300	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:55512300G>A	uc001cyf.2	+	2	866	c.504G>A	c.(502-504)gcG>gcA	p.A168A	PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_Intron	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	168	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.R167L(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GGTACCGGGCGGATGAATACC	0.617000														181			87		0	0	0.003610	0	0
PAPPA2	60676	broad.mit.edu	37	1	176671742	176671742	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:176671742G>A	uc001gkz.3	+	9	4401	c.3237_splice	c.e9-1	p.V1079_splice	PAPPA2_uc009www.3_Splice_Site	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1079					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGTTTCCACAGGGAGGTCACA	0.498000														24			10		0	0	0.006214	0	0
GSTA2	2939	broad.mit.edu	37	6	52619770	52619770	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:52619770G>A	uc003pay.3	-	3	393	c.243C>T	c.(241-243)ctC>ctT	p.L81L		NM_000846	NP_000837	P09210	GSTA2_HUMAN	Homo sapiens glutathione S-transferase alpha 2 (GSTA2), mRNA.	81	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	CTTTCCCATAGAGGTTGTATT	0.443000														171			27		0	0	0.004656	0	0
ESRRB	2103	broad.mit.edu	37	14	76964706	76964706	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:76964706G>A	uc001xsr.3	+	8	1578	c.1207G>A	c.(1207-1209)Gcc>Acc	p.A403T	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.A403T	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	403						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GCGGCAGACGGCCGCCAAGGC	0.632000														11			5		0	0	0.001168	0	0
FAM105A	54491	broad.mit.edu	37	5	14607445	14607445	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:14607445G>A	uc003jfj.3	+	5	618	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	Homo sapiens family with sequence similarity 105, member A (FAM105A), mRNA.	169										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					CAAGCTTCCTGAAAAACTGCT	0.368000														33			15		0	0	0.004990	0	0
BCL11B	64919	broad.mit.edu	37	14	99723868	99723868	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:99723868C>T	uc001yga.3	-	1	634	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	BCL11B_uc001ygb.3_Missense_Mutation_p.E123K	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	123						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGGTCATCTTCGTCGGGGGTG	0.607000			T	TLX3	T-ALL									51			43		0	0	0.009718	0	0
FCER1A	2205	broad.mit.edu	37	1	159272208	159272208	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:159272208C>T	uc001ftq.3	+	2	152	c.55_splice	c.e2+1	p.A19_splice		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	19						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TACTGTTCTTCGGTAAGTAGA	0.502000														88			39		0	0	0.007835	0	0
GABPB2	126626	broad.mit.edu	37	1	151090540	151090540	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:151090540C>T	uc001ewr.2	+	8	1486	c.1155C>T	c.(1153-1155)taC>taT	p.Y385Y	GABPB2_uc001ewt.2_3'UTR	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 2 (GABPB2), mRNA.	385					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		CAGAACAGTACCGTCTTAAGC	0.512000														48			25		0	0	0.007291	0	0
CASZ1	54897	broad.mit.edu	37	1	10720315	10720315	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:10720315C>T	uc001aro.3	-	5	1104	c.784G>A	c.(784-786)Gag>Aag	p.E262K	CASZ1_uc001arp.1_Missense_Mutation_p.E262K|CASZ1_uc009vmx.2_Missense_Mutation_p.E286K|CASZ1_uc001arq.1_Missense_Mutation_p.E121K	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		ACCCGCTCCTCGGTCTTGGTG	0.687000														31			23		0	0	0.001882	0	0
HRG	3273	broad.mit.edu	37	3	186394836	186394836	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:186394836G>A	uc003fqq.3	+	7	765	c.742_splice	c.e7-1	p.E248_splice		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	248	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CCTTTTCCAGGAACATGAGAA	0.453000														68			28		0	0	0.006320	0	0
MIR873	100126316	broad.mit.edu	37	9	28888890	28888890	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:28888890C>T	uc022bfe.1	-	0		c.64G>A								Homo sapiens microRNA 873 (MIR873), microRNA.																		TGGGTGTTCCCGGGAACTCAT	0.428000														24			5		0	0	0.000602	0	0
VAPB	9217	broad.mit.edu	37	20	56993269	56993269	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:56993269C>T	uc002xza.3	+	1	402	c.61C>T	c.(61-63)Ccc>Tcc	p.P21S	VAPB_uc010zzo.2_5'UTR|VAPB_uc002xzd.2_Missense_Mutation_p.P21S|VAPB_uc002xzb.3_Non-coding_Transcript	NM_004738	NP_004729	O95292	VAPB_HUMAN	Homo sapiens VAMP (vesicle-associated membrane protein)-associated protein B and C (VAPB), transcript variant 1, mRNA.	21	MSP.				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			TTCTACAGGTCCCTTCACCGA	0.448000														65			18		0	0	0.008871	0	0
KIAA1324	57535	broad.mit.edu	37	1	109743402	109743403	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:109743402_109743403GG>AA	uc021orb.1	+	20	3074_3075	c.2853_2854GG>AA	c.(2851-2856)aaggac>aaAAac	p.D952N	KIAA1324_uc009wex.2_Missense_Mutation_p.D902N|KIAA1324_uc010ovg.2_Missense_Mutation_p.D850N|KIAA1324_uc009wey.3_Missense_Mutation_p.D865N|KIAA1324_uc001dwr.3_Missense_Mutation_p.D602N	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	952					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CTACTCTCAAGGACTGTGACCT	0.485000											OREG0013630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		335			159		0	0	0.004672	0	0
MMP13	4322	broad.mit.edu	37	11	102819836	102819836	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:102819836C>T	uc001phl.3	-	6	998	c.969G>A	c.(967-969)acG>acA	p.T323T		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	323	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		AAAATGATTTCGTTAAAAACA	0.423000														29			13		0	0	0.001368	0	0
VIT	5212	broad.mit.edu	37	2	36982190	36982190	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:36982190C>T	uc002rpl.3	+	4	704	c.402C>T	c.(400-402)atC>atT	p.I134I	VIT_uc002rpk.3_Silent_p.I134I|VIT_uc010ynf.2_Silent_p.I127I|VIT_uc002rpm.3_Silent_p.I134I|VIT_uc010ezv.3_Silent_p.I134I|VIT_uc010ezw.3_Silent_p.I134I	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	134						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AATCCTTTATCGTCTTAGGTA	0.443000														32			7		0	0	0.001984	0	0
KCNU1	157855	broad.mit.edu	37	8	36641933	36641933	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:36641933T>A	uc010lvw.3	+	0	92	c.5T>A	c.(4-6)tTt>tAt	p.F2Y	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	2						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)		TCGAACATGTTTCAGACTAAG	0.458000														14			6		0	0	0.001984	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999750	46999750	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:46999750C>T	uc001jec.3	+	2	1005	c.870C>T	c.(868-870)tcC>tcT	p.S290S	GPRIN2_uc021ppt.1_Silent_p.S290S	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	290								p.H289Y(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CTGGGCATTCCCATTGCTGTG	0.597000														82			5		0	0	0.001168	0	0
OR2T6	254879	broad.mit.edu	37	1	248551306	248551306	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248551306C>T	uc001iei.1	+	0	397	c.397C>T	c.(397-399)Cct>Tct	p.P133S		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACTGCGCTATCCTGTCCTCAT	0.562000														50			17		0	0	0.004007	0	0
DHX16	8449	broad.mit.edu	37	6	30632922	30632922	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:30632922G>A	uc003nqz.3	-	5	1263	c.1051C>T	c.(1051-1053)Ccc>Tcc	p.P351S	DHX16_uc011dmo.2_Missense_Mutation_p.P291S	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	351					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						TGATACTTGGGCTCCTGAGAG	0.632000														20			4		0	0	0.000602	0	0
LAMB1	3912	broad.mit.edu	37	7	107616285	107616285	+	Silent	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:107616285A>G	uc003vev.2	-	7	1271	c.1110T>C	c.(1108-1110)ttT>ttC	p.F370F	LAMB1_uc003vew.2_Silent_p.F346F|LAMB1_uc003vex.3_Silent_p.F346F|LAMB1_uc010ljn.1_Silent_p.F432F	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	346	Laminin EGF-like 2.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGCCATGTCAAAGTGACAAG	0.507000														30			9		0	0	0.004482	0	0
USP24	23358	broad.mit.edu	37	1	55547002	55547003	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:55547002_55547003CC>TT	uc021onw.1	-	58	7323_7324	c.7070_7071GG>AA	c.(7069-7071)agg>aAA	p.R2357K	USP24_uc001cyg.4_Missense_Mutation_p.R2191K	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	2357					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TACCAACATTCCTTTGGGATGA	0.371000														261			42		0	0	0.004672	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100496634	100496634	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:100496634G>A	uc001tgq.3	-	4	476	c.247_splice	c.e4-1	p.S83_splice	UHRF1BP1L_uc001tgr.3_Splice_Site_p.S83_splice	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	83								p.S83C(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTTATCCAGGGACTAATAAAA	0.294000														10			26		0	0	0.003330	0	0
CORO2A	7464	broad.mit.edu	37	9	100888952	100888952	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:100888952G>A	uc004aym.3	-	10	1441	c.1325C>T	c.(1324-1326)tCc>tTc	p.S442F	CORO2A_uc004ayl.3_Missense_Mutation_p.S442F|CORO2A_uc004ayk.3_Missense_Mutation_p.S89F	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	442					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	p.S442F(2)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CAACAGGGAGGAAGACCTCCA	0.547000														72			52		0	0	0.003610	0	0
NINL	22981	broad.mit.edu	37	20	25460820	25460821	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:25460820_25460821GG>AA	uc002wux.1	-	14	1967_1968	c.1893_1894CC>TT	c.(1891-1896)gacctc>gaTTtc	p.L632F	NINL_uc010gdn.1_Missense_Mutation_p.L632F|NINL_uc010gdo.1_Missense_Mutation_p.L415F	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	632					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGGGTCCTGAGGTCTTGGTAAT	0.550000														43			11		0	0	0.004672	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563715	140563715	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140563715C>T	uc003liv.3	+	0	2736	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	527	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCGGGAGTTCGAGTTCCGCG	0.687000														54			23		0	0	0.003330	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428154	128428154	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:128428154C>T	uc003ysf.3	+	0	298	c.43C>T	c.(43-45)Cca>Tca	p.P15S	LOC727677_uc003ysc.1_Intron|LOC727677_uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron	NM_001159542	NP_001153014	Q06416	P5F1B_HUMAN	Homo sapiens POU class 5 homeobox 1B (POU5F1B), mRNA.	15						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						CTCGCCCCCTCCAGGCGGTGG	0.642000														10			6		0	0	0.001168	0	0
MYBPC2	4606	broad.mit.edu	37	19	50957356	50957356	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:50957356G>T	uc002psf.2	+	16	1880	c.1829G>T	c.(1828-1830)cGg>cTg	p.R610L		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	610	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGTGCGCAGCGGGAAGACGAG	0.607000														7			6		5.9392e-07	6.51306e-07	0.001168	1	0
TNR	7143	broad.mit.edu	37	1	175335252	175335252	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:175335252G>A	uc001gkp.1	-	8	2157	c.2076C>T	c.(2074-2076)ctC>ctT	p.L692L	TNR_uc009wwu.1_Silent_p.L692L	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	692	Fibronectin type-III 5.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.L692L(2)|p.D691N(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTGTCACCATGAGGTCTCGGG	0.517000														23			13		0	0	0.001855	0	0
MYH6	4624	broad.mit.edu	37	14	23854192	23854192	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:23854192G>A	uc001wjv.3	-	34	5293	c.5222C>T	c.(5221-5223)tCg>tTg	p.S1741L		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1741					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.S1741L(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCCACTTCCGACTGGAGCTG	0.517000														30			11		0	0	0.008291	0	0
PLCE1	51196	broad.mit.edu	37	10	95892155	95892155	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:95892155G>A	uc001kjk.3	+	2	2065	c.1431G>A	c.(1429-1431)ttG>ttA	p.L477L	PLCE1_uc010qnx.2_Silent_p.L477L|PLCE1_uc001kjm.3_Silent_p.L169L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	477					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity	p.S476F(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCACGTCTTTGGGAGCAAGAA	0.453000														47			9		0	0	0.006214	0	0
AMOTL2	51421	broad.mit.edu	37	3	134089733	134089734	+	Missense_Mutation	DNP	GG	AA	AA	rs139339298		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:134089733_134089734GG>AA	uc003eqf.2	-	1	833_834	c.716_717CC>TT	c.(715-717)tcc>tTT	p.S239F	AMOTL2_uc003eqg.1_Missense_Mutation_p.S181F|AMOTL2_uc003eqh.1_Missense_Mutation_p.S181F	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	181										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGAAGCTGTGGGAGGAGCTCAT	0.698000														22			11		0	0	0.004672	0	0
CDHR3	222256	broad.mit.edu	37	7	105636705	105636705	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:105636705C>T	uc003vdl.4	+	5	726	c.618C>T	c.(616-618)ctC>ctT	p.L206L	CDHR3_uc003vdk.3_Intron|CDHR3_uc011kls.1_Intron|CDHR3_uc003vdm.4_Silent_p.L193L|CDHR3_uc011klt.2_Silent_p.L118L	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	206	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GTTTCCATCTCATCGTGGAGG	0.527000														8			3		0	0	0.004672	0	0
CSMD2	114784	broad.mit.edu	37	1	34008417	34008417	+	Silent	SNP	G	A	A	rs138523089	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:34008417G>A	uc001bxm.1	-	57	9357	c.9180C>T	c.(9178-9180)atC>atT	p.I3060I	CSMD2_uc001bxn.1_Silent_p.I2916I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3034	Sushi 23.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACTCATAGACGATAGAGCTGG	0.542000														30			19		0	0	0.001882	0	0
SLC22A3	6581	broad.mit.edu	37	6	160831796	160831796	+	Missense_Mutation	SNP	G	A	A	rs151135411	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:160831796G>A	uc003qti.3	+	4	920	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	298						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		CTGATTACTCGGAAGAAAGGA	0.428000														55			18		0	0	0.006122	0	0
NLRP14	338323	broad.mit.edu	37	11	7092536	7092536	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:7092536C>T	uc001mfb.1	+	11	3602	c.3279C>T	c.(3277-3279)ttC>ttT	p.F1093F		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	1093					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GGTGGTGTTTCTGATTTGAAG	0.353000														20			10		0	0	0.006214	0	0
RBM46	166863	broad.mit.edu	37	4	155719258	155719258	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:155719258C>T	uc003ioo.3	+	2	620	c.447C>T	c.(445-447)ccC>ccT	p.P149P	RBM46_uc011cim.1_Silent_p.P149P|RBM46_uc003iop.1_Silent_p.P149P	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	149	RRM 2.						RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GAGCTATTCCCAAGGAAAAGA	0.328000														17			19		0	0	0.008871	0	0
CLCA2	9635	broad.mit.edu	37	1	86898095	86898095	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:86898095C>T	uc001dlr.4	+	4	790	c.628C>T	c.(628-630)Cct>Tct	p.P210S		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	210					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TGAAAAAGGTCCTTGCCCCCA	0.348000														78			33		0	0	0.002836	0	0
CCL21	6366	broad.mit.edu	37	9	34709522	34709522	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:34709522C>T	uc003zvo.3	-	2	430	c.346G>A	c.(346-348)Gga>Aga	p.G116R		NM_002989	NP_002980	O00585	CCL21_HUMAN	Homo sapiens chemokine (C-C motif) ligand 21 (CCL21), mRNA.	116	C-terminal basic extension.				T cell costimulation|activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of protein kinase activity|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization	extracellular space	CCR7 chemokine receptor binding|chemokine activity			large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GAGCCCTTTCCTTTCTTGCCA	0.597000														42			29		0	0	0.003755	0	0
COL5A2	1290	broad.mit.edu	37	2	189936776	189936776	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:189936776G>A	uc002uqk.3	-	17	1423	c.1148C>T	c.(1147-1149)cCt>cTt	p.P383L	COL5A2_uc010frx.3_Intron	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	383					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CTTCATTCCAGGATTTCCTGG	0.333000														12			10		0	0	0.001368	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179555543	179555543	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:179555543C>T	uc003mlq.3	-	3	803	c.506G>A	c.(505-507)gGg>gAg	p.G169E	RASGEF1C_uc003mlr.3_Missense_Mutation_p.G169E|RASGEF1C_uc003mlp.4_Missense_Mutation_p.G18E	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.	169					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	p.G169E(2)		breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCTTCTGGCCCCTGGCGCAG	0.627000														25			9		0	0	0.004482	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179318397	179318397	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:179318397G>A	uc003mlh.3	-	5	1061	c.1026C>T	c.(1024-1026)ctC>ctT	p.L342L	TBC1D9B_uc003mli.3_Silent_p.L342L|TBC1D9B_uc003mlj.3_Silent_p.L342L	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	342	GRAM 2.					integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGGTATGATGAGGTGGCAAG	0.597000														45			11		0	0	0.000978	0	0
ZBTB3	79842	broad.mit.edu	37	11	62520741	62520741	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:62520741C>T	uc001nuz.3	-	1	668	c.546G>A	c.(544-546)aaG>aaA	p.K182K		NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN	Homo sapiens zinc finger and BTB domain containing 3 (ZBTB3), mRNA.	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						TTTCCTCCTCCTTCTTGGTAC	0.547000														81			35		0	0	0.006230	0	0
OTUD7A	161725	broad.mit.edu	37	15	31862347	31862347	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:31862347C>T	uc001zfq.3	-	1	298	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	OTUD7A_uc001zfr.3_Missense_Mutation_p.V69M|OTUD7A_uc001zfs.1_Non-coding_Transcript|OTUD7A_uc010baa.1_Missense_Mutation_p.V69M	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	69						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)		GCTGTGTGCACCTGGCGGAGC	0.572000														45			9		0	0	0.001368	0	0
FCRL3	115352	broad.mit.edu	37	1	157667587	157667587	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:157667587G>A	uc001fqz.4	-	4	713	c.421C>T	c.(421-423)Cct>Tct	p.P141S	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_5'UTR|FCRL3_uc001frb.3_Missense_Mutation_p.P141S|FCRL3_uc001frc.1_Missense_Mutation_p.P141S	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	141	Ig-like C2-type 2.					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)					TAACTATTAGGAAGCTGTTTT	0.353000														85			25		0	0	0.006320	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41065475	41065475	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:41065475C>T	uc003jmj.4	-	3	809	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	HEATR7B2_uc021xxt.1_Missense_Mutation_p.E107K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	107							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						ACAACGAATTCATCTGGTAGC	0.418000														16			6		0	0	0.001168	0	0
OTOL1	131149	broad.mit.edu	37	3	161214915	161214915	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:161214915C>T	uc011bpb.2	+	0	320	c.320C>T	c.(319-321)cCt>cTt	p.P107L		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	107						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TGTTGTTCACCTGTACCCGGG	0.438000														78			26		0	0	0.004656	0	0
OR7D4	125958	broad.mit.edu	37	19	9324650	9324650	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9324650G>A	uc002mla.2	-	0	898	c.864C>T	c.(862-864)ttC>ttT	p.F288F		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GGCTGTAGATGAAGGGGTTCA	0.557000														45			16		0	0	0.006122	0	0
TNRC18	84629	broad.mit.edu	37	7	5410863	5410863	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:5410863G>A	uc003soi.4	-	10	3711	c.3362C>T	c.(3361-3363)cCc>cTc	p.P1121L		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	1121	Pro-rich.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CAGGCGCTCGGGCCCATCAGC	0.706000														28			9		0	0	0.006214	0	0
COL5A1	1289	broad.mit.edu	37	9	137619121	137619121	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:137619121C>T	uc004cfe.3	+	4	1046	c.664C>T	c.(664-666)Cag>Tag	p.Q222*		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	222	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGTGACATCCAGCAGCTGCT	0.567000														85			19		0	0	0.002299	0	0
OR7D2	162998	broad.mit.edu	37	19	9296697	9296697	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9296697G>A	uc002mkz.1	+	0	428	c.240G>A	c.(238-240)aaG>aaA	p.K80K		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	80					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TCGTCCCCAAGATGCTGGTGA	0.512000														79			40		0	0	0.008740	0	0
SORBS2	8470	broad.mit.edu	37	4	186583354	186583354	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:186583354G>A	uc003iyg.3	-	3	288	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	SORBS2_uc003iyh.3_Missense_Mutation_p.P179S|SORBS2_uc011ckw.2_Missense_Mutation_p.P69S|SORBS2_uc003iyi.3_Missense_Mutation_p.P86S|SORBS2_uc011ckx.2_Missense_Mutation_p.P46S|SORBS2_uc003iyk.3_Missense_Mutation_p.P86S|SORBS2_uc003iym.3_Missense_Mutation_p.P100S|SORBS2_uc003iyl.3_5'UTR|SORBS2_uc003iyn.1_Missense_Mutation_p.P46S|SORBS2_uc011cky.1_Missense_Mutation_p.P63S|SORBS2_uc003iyd.3_Missense_Mutation_p.P179S|SORBS2_uc003iye.3_5'UTR|SORBS2_uc003iya.3_5'UTR|SORBS2_uc003iyb.3_5'UTR|SORBS2_uc003iyc.3_5'UTR|SORBS2_uc003iyf.3_Missense_Mutation_p.P63S	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	0	SoHo.					Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TAACTCATGGGACTCACGGCA	0.493000														6			10		0	0	0.006214	0	0
GLI4	2738	broad.mit.edu	37	8	144358575	144358575	+	Nonsense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:144358575C>A	uc003yxx.3	+	3	817	c.732C>A	c.(730-732)tgC>tgA	p.C244*	ZFP41_uc003yxv.3_Non-coding_Transcript	NM_138465	NP_612474	P10075	GLI4_HUMAN	Homo sapiens GLI family zinc finger 4 (GLI4), mRNA.	244						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCGGCCAGTGCGGCCGCGCCT	0.687000														22			18		1.00905e-13	1.11323e-13	0.008871	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140753757	140753757	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140753757C>T	uc003ljy.2	+	0	107	c.107C>T	c.(106-108)cCc>cTc	p.P36L	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_uc011dau.2_Missense_Mutation_p.P36L	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	36	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTCTATTCCCGAGGAGCTG	0.657000														11			9		0	0	0.008291	0	0
XKR7	343702	broad.mit.edu	37	20	30584564	30584564	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:30584564G>A	uc002wxe.3	+	2	1218	c.1044G>A	c.(1042-1044)acG>acA	p.T348T		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	348						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AAGGGGAGACGGACTTCTGCA	0.562000														15			9		0	0	0.001368	0	0
KIF21B	23046	broad.mit.edu	37	1	200968483	200968483	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:200968483C>T	uc001gvs.2	-	12	2196	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	KIF21B_uc009wzl.2_Missense_Mutation_p.E627K|KIF21B_uc001gvr.2_Missense_Mutation_p.E627K|KIF21B_uc010ppn.2_Missense_Mutation_p.E627K	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	627					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCACCCTTCTCCTCGGGGTCT	0.627000														50			35		0	0	0.004878	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642985	1642985	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:1642985G>A	uc009ycy.1	-	1	321	c.234C>T	c.(232-234)tcC>tcT	p.S78S	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	173	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACCCCCACAGGAGCCACAGC	0.667000														98			6		0	0	0.001368	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18504852	18504852	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:18504852A>C	uc003zne.4	+	1	241	c.89A>C	c.(88-90)gAg>gCg	p.E30A	ADAMTSL1_uc003znb.3_Missense_Mutation_p.E30A|ADAMTSL1_uc003znc.4_Missense_Mutation_p.E30A	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	30						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGCTCCGAGGAGGACCGGGAC	0.587000														35			22		0	0	0.003330	0	0
C15orf2	23742	broad.mit.edu	37	15	24921258	24921258	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:24921258C>T	uc001ywo.3	+	0	718	c.244C>T	c.(244-246)Ctg>Ttg	p.L82L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	82					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GGCCGCCCCTCTGGGGGTCCT	0.692000														9			9		0	0	0.006214	0	0
ACSS1	84532	broad.mit.edu	37	20	24994251	24994251	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:24994251G>A	uc002wub.3	-	9	1580	c.1500C>T	c.(1498-1500)tcC>tcT	p.S500S	ACSS1_uc002wuc.3_Silent_p.S498S|ACSS1_uc021wbm.1_Silent_p.S500S|ACSS1_uc010gdc.3_Silent_p.S295S|ACSS1_uc002wua.3_Silent_p.S417S|ACSS1_uc021wbl.1_Silent_p.S379S|ACSS1_uc002wud.1_Non-coding_Transcript	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 1 (ACSS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	500					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	AMP binding|ATP binding|acetate-CoA ligase activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCCAGGCCTGGGAGATGCACA	0.642000														21			4		0	0	0.000602	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587195	15587195	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15587195C>T	uc002nbg.3	-	1	419	c.286G>A	c.(286-288)Gag>Aag	p.E96K	PGLYRP2_uc002nbf.4_Missense_Mutation_p.E96K	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	96					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CGGGCCACCTCCTTGGTCAGG	0.612000														53			25		0	0	0.003330	0	0
ZNF43	7594	broad.mit.edu	37	19	21992307	21992307	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:21992307C>T	uc002nqj.3	-	3	662	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	ZNF43_uc002nql.3_Missense_Mutation_p.E172K|ZNF43_uc002nqm.3_Missense_Mutation_p.E172K|ZNF43_uc010ecv.3_Missense_Mutation_p.E172K|ZNF43_uc002nqk.3_Missense_Mutation_p.E108K	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTGCCACATTCTTTGCATTTG	0.289000														18			12		0	0	0.000978	0	0
ZNF454	285676	broad.mit.edu	37	5	178392789	178392789	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:178392789C>T	uc003mjo.2	+	4	1685	c.1384C>T	c.(1384-1386)Cat>Tat	p.H462Y	ZNF454_uc010jkz.2_Missense_Mutation_p.H462Y|ZNF454_uc021yjc.1_Missense_Mutation_p.H462Y	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TAAGAGAATTCATACTAGGGA	0.398000														44			14		0	0	0.002450	0	0
SH3RF3	344558	broad.mit.edu	37	2	110065723	110065723	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:110065723C>T	uc010ywt.1	+	7	1926	c.1926C>T	c.(1924-1926)ctC>ctT	p.L642L		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.	642							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CCACCAGCCTCAGGCCCCACT	0.692000														7			7		0	0	0.003080	0	0
RASEF	158158	broad.mit.edu	37	9	85613319	85613319	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:85613319C>T	uc004amo.1	-	12	2027	c.1766G>A	c.(1765-1767)cGa>cAa	p.R589Q		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	589					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CAGAACTGTTCGTTCTCCATC	0.468000														105			29		0	0	0.002096	0	0
LPPR4	9890	broad.mit.edu	37	1	99762394	99762394	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:99762394C>T	uc001dse.3	+	2	667	c.509C>T	c.(508-510)tCc>tTc	p.S170F	LPPR4_uc010oue.2_Missense_Mutation_p.S170F	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 4 (LPPR4), transcript variant 1, mRNA.	170							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AACTTCAATTCCTTCCTCAGA	0.393000														43			16		0	0	0.007413	0	0
KCNH1	3756	broad.mit.edu	37	1	210857182	210857182	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:210857182G>A	uc001hib.2	-	10	2581	c.2411C>T	c.(2410-2412)tCc>tTc	p.S804F	KCNH1_uc001hic.2_Missense_Mutation_p.S777F	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	804					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCCGGAGGTGGAGGCTGCCTG	0.672000														56			24		0	0	0.002299	0	0
CD93	22918	broad.mit.edu	37	20	23065742	23065742	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:23065742C>T	uc002wsv.3	-	0	1236	c.1088G>A	c.(1087-1089)gGg>gAg	p.G363E		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	363	EGF-like 3; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCGGAAGCCCCCAGGGGTGTT	0.642000														19			10		0	0	0.008291	0	0
MLL3	58508	broad.mit.edu	37	7	151874081	151874081	+	Silent	SNP	G	A	A	rs141305805		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:151874081G>A	uc003wla.3	-	37	8676	c.8457C>T	c.(8455-8457)acC>acT	p.T2819T	MLL3_uc003wkz.3_Silent_p.T1880T|MLL3_uc003wky.3_Silent_p.T328T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2819					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTACCTCATTGGTAACAGTGG	0.333000			N		medulloblastoma									54			23		0	0	0.003954	0	0
TNXB	7148	broad.mit.edu	37	6	32017111	32017111	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:32017111C>T	uc003nzl.2	-	27	9889	c.9687G>A	c.(9685-9687)aaG>aaA	p.K3229K	TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3276	Fibronectin type-III 24.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACAGATGCATCTTGTATTTGC	0.682000														175			66		0	0	0.003610	0	0
SSTR3	6753	broad.mit.edu	37	22	37602955	37602955	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:37602955G>A	uc003ara.3	-	1	950	c.888C>T	c.(886-888)ttC>ttT	p.F296F	SSTR3_uc003arb.3_Silent_p.F296F|SSTR3_uc021wos.1_Silent_p.F296F	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	296					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						CCACCACCAGGAAGTAGAGCC	0.607000														60			12		0	0	0.001368	0	0
LOC649330	649330	broad.mit.edu	37	1	12907649	12907649	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:12907649C>T	uc010obf.2	-	1	720	c.494G>A	c.(493-495)gGa>gAa	p.G165E	LOC649330_uc009vno.2_Missense_Mutation_p.G165E	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	165							nucleic acid binding|nucleotide binding										TCCCCGCTTTCCACTCTTAGA	0.493000														174			88		0	0	0.003610	0	0
SLC22A3	6581	broad.mit.edu	37	6	160829918	160829918	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:160829918C>T	uc003qti.3	+	3	849	c.822C>T	c.(820-822)atC>atT	p.I274I	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	274						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		AGTTAGCCATCACGCTGCCCA	0.408000														28			11		0	0	0.001855	0	0
SLC17A1	6568	broad.mit.edu	37	6	25813407	25813407	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:25813407G>A	uc003nfh.4	-	6	767	c.651C>T	c.(649-651)ttC>ttT	p.F217F	SLC17A1_uc011djy.2_Intron|SLC17A1_uc010jqb.1_Silent_p.F217F|SLC17A1_uc010jqc.1_Silent_p.F215F	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	217					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.W216R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AAAACAGAACGAACCAGAGAA	0.458000														44			17		0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	9062601	9062601	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9062601G>A	uc002mkp.3	-	2	25049	c.24845C>T	c.(24844-24846)tCc>tTc	p.S8282F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8284	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAATGTAGAGGAAACAGGAGA	0.512000														54			5		0	0	0.001168	0	0
IGSF1	3547	broad.mit.edu	37	X	130415673	130415673	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:130415673G>A	uc004ewe.4	-	7	1775	c.1492C>T	c.(1492-1494)Cgc>Tgc	p.R498C	IGSF1_uc004ewd.3_Missense_Mutation_p.R498C|IGSF1_uc022cdv.1_Missense_Mutation_p.R489C|IGSF1_uc004ewf.2_Missense_Mutation_p.R478C	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	498	Ig-like C2-type 5.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGCTCACTGCGATGTGACCAG	0.527000														13			19		0	0	0.007413	0	0
KIF3C	3797	broad.mit.edu	37	2	26151896	26151896	+	Missense_Mutation	SNP	G	A	A	rs13030360		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:26151896G>A	uc002rgu.2	-	7	2990	c.2333C>T	c.(2332-2334)tCc>tTc	p.S778F	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Missense_Mutation_p.S776F	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	778	Globular (Potential).				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGGCCAGGGAGGCATGTGT	0.607000														61			31		0	0	0.005524	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33616128	33616128	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:33616128C>T	uc003jia.1	-	14	2356	c.2193G>A	c.(2191-2193)gtG>gtA	p.V731V	ADAMTS12_uc010iuq.1_Silent_p.V646V	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	731	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CAATTTCCATCACTCTTATGT	0.448000										HNSCC(64;0.19)				32			9		0	0	0.006214	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475301	140475301	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140475301G>A	uc003lil.3	+	0	1065	c.927G>A	c.(925-927)ctG>ctA	p.L309L	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	309	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACAGAAACTGGATTTCGAAT	0.408000														33			12		0	0	0.001855	0	0
KLK3	354	broad.mit.edu	37	19	51359505	51359505	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:51359505C>T	uc021uyi.1	+	1	97	c.56C>T	c.(55-57)cCc>cTc	p.P19L	KLK3_uc002ptp.1_Missense_Mutation_p.P19L|KLK3_uc002pts.1_Missense_Mutation_p.P19L|KLK3_uc002ptr.1_Missense_Mutation_p.P19L|KLK3_uc010eof.1_Non-coding_Transcript	NM_001648	NP_001639	P07288	KLK3_HUMAN	Homo sapiens kallikrein-related peptidase 3 (KLK3), transcript variant 1, mRNA.	19					negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GGTGCTGCACCCCTCATCCTG	0.597000														96			13		0	0	0.001855	0	0
UBR2	23304	broad.mit.edu	37	6	42643911	42643911	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:42643911T>C	uc011dur.2	+	38	4667	c.4369T>C	c.(4369-4371)Tta>Cta	p.L1457L	UBR2_uc011dus.2_Silent_p.L1102L|UBR2_uc003osh.3_Intron|UBR2_uc011dut.2_Silent_p.L45L	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	1457					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CATACAGATCTTACTTACCTC	0.388000														156			20		0	0	0.002780	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420357	55420357	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:55420357G>A	uc001sgp.4	+	1	512	c.134G>A	c.(133-135)aGc>aAc	p.S45N	NEUROD4_uc021qyr.1_Missense_Mutation_p.S45N	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	45					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L44F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GGGATGCTCAGCAGCTTAACT	0.478000														13			15		0	0	0.002450	0	0
DOCK3	1795	broad.mit.edu	37	3	51251631	51251631	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:51251631G>A	uc011bds.2	+	13	1228	c.1205G>A	c.(1204-1206)gGa>gAa	p.G402E		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	402						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTTAATAGGGGATTGGCAATT	0.423000														26			11		0	0	0.000978	0	0
PADI3	51702	broad.mit.edu	37	1	17603042	17603042	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:17603042G>A	uc001bai.3	+	11	1376	c.1336G>A	c.(1336-1338)Gtg>Atg	p.V446M		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	446					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CACCCAGGTGGTGCGGGACTT	0.532000														60			32		0	0	0.002445	0	0
PTPRF	5792	broad.mit.edu	37	1	44072119	44072119	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:44072119C>T	uc001cjr.3	+	19	4032	c.3692C>T	c.(3691-3693)cCc>cTc	p.P1231L	PTPRF_uc001cjs.3_Missense_Mutation_p.P1222L|PTPRF_uc001cju.3_Missense_Mutation_p.P609L|PTPRF_uc009vwt.3_Missense_Mutation_p.P791L|PTPRF_uc001cjv.3_Missense_Mutation_p.P691L|PTPRF_uc001cjw.3_Missense_Mutation_p.P457L	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1231					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTGAAGGAACCCATGGACCAG	0.587000														111			42		0	0	0.008740	0	0
FCER1A	2205	broad.mit.edu	37	1	159275788	159275788	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:159275788C>T	uc001ftq.3	+	4	439	c.342C>T	c.(340-342)ctC>ctT	p.L114L		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	114	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ACTGGCTGCTCCTTCAGGCCT	0.453000														22			14		0	0	0.002450	0	0
ECEL1	9427	broad.mit.edu	37	2	233346544	233346544	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:233346544C>T	uc002vsv.2	-	12	2017	c.1812G>A	c.(1810-1812)ggG>ggA	p.G604G	ECEL1_uc010fya.1_Silent_p.G602G|ECEL1_uc010fyb.1_Silent_p.G311G	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	604					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGCCGATGCCCCCGTAGTTGA	0.677000														41			11		0	0	0.000978	0	0
PCLO	27445	broad.mit.edu	37	7	82584822	82584822	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82584822G>A	uc003uhx.2	-	4	5736	c.5447C>T	c.(5446-5448)gCt>gTt	p.A1816V	PCLO_uc003uhv.2_Missense_Mutation_p.A1816V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1747					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						TCTTCTCTGAGCTCGAAGTTC	0.408000														109			36		0	0	0.004289	0	0
FCRL5	83416	broad.mit.edu	37	1	157514310	157514310	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:157514310C>T	uc009wsm.3	-	4	744	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	FCRL5_uc001fqu.3_Missense_Mutation_p.A196T|FCRL5_uc010phv.1_Missense_Mutation_p.A196T|FCRL5_uc010phw.1_Missense_Mutation_p.A111T|FCRL5_uc001fqv.1_Missense_Mutation_p.A196T|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	196	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AAGGAGCTGGCTCTCAGCACT	0.547000														80			31		0	0	0.009535	0	0
NOL4	8715	broad.mit.edu	37	18	31537457	31537457	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:31537457C>T	uc010dmi.3	-	7	1559	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	NOL4_uc010xbs.2_Missense_Mutation_p.E136K|NOL4_uc002kxr.4_Intron|NOL4_uc010xbt.2_Missense_Mutation_p.E347K|NOL4_uc010dmh.3_Intron|NOL4_uc010xbu.2_Intron|NOL4_uc002kxt.4_Intron|NOL4_uc010xbv.1_Intron	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	421						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCCAAGTTTTCATCTACAAAC	0.478000														13			9		0	0	0.004482	0	0
CCDC141	285025	broad.mit.edu	37	2	179702380	179702380	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179702380C>T	uc002une.2	-	22	3684	c.3566G>A	c.(3565-3567)gGt>gAt	p.G1189D	CCDC141_uc002unf.1_Missense_Mutation_p.G668D	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	614							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTGGACGCCACCCTCCTTGTC	0.547000														51			22		0	0	0.002299	0	0
OSBPL2	9885	broad.mit.edu	37	20	60854378	60854378	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:60854378C>T	uc002yck.1	+	6	859	c.657C>T	c.(655-657)atC>atT	p.I219I	OSBPL2_uc002ycl.1_Silent_p.I207I|OSBPL2_uc011aah.1_Silent_p.I127I|OSBPL2_uc002ycm.1_Missense_Mutation_p.S28L	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA.	219					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GAGGCACCATCACCCTGGAGC	0.572000														18			10		0	0	0.006214	0	0
CDH24	64403	broad.mit.edu	37	14	23523522	23523522	+	Missense_Mutation	SNP	G	A	A	rs61976366		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:23523522G>A	uc001wil.3	-	5	1060	c.800C>T	c.(799-801)tCc>tTc	p.S267F	CDH24_uc010akf.3_Missense_Mutation_p.S267F|CDH24_uc001win.3_Missense_Mutation_p.S267F	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	267	Cadherin 3.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CTCCACCACGGAGAACTGGTA	0.622000														61			28		0	0	0.009535	0	0
NRP1	8829	broad.mit.edu	37	10	33481252	33481252	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:33481252C>T	uc001iwx.4	-	12	2542	c.2019G>A	c.(2017-2019)tgG>tgA	p.W673*	NRP1_uc001iwv.4_Nonsense_Mutation_p.W673*|NRP1_uc001iwy.4_Nonsense_Mutation_p.W666*|NRP1_uc009xlz.3_Nonsense_Mutation_p.W666*|NRP1_uc001iww.4_Nonsense_Mutation_p.W485*	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	673	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TCAACACACTCCACTTGAGCT	0.493000														156			48		0	0	0.003610	0	0
LRP1B	53353	broad.mit.edu	37	2	140990791	140990791	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:140990791C>T	uc002tvj.1	-	90	14736	c.13764G>A	c.(13762-13764)aaG>aaA	p.K4588K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4588					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.P4587Q(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)		TTTCTATTTTCTTTGGAAGCA	0.318000										TSP Lung(27;0.18)				11			18		0	0	0.006122	0	0
GPR179	440435	broad.mit.edu	37	17	36482961	36482961	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:36482961C>T	uc002hpz.3	-	10	6512	c.6491G>A	c.(6490-6492)gGg>gAg	p.G2164E		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	2164						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTCTTCCGTCCCTCCAGGTCC	0.592000														31			60		0	0	0.003610	0	0
FAM47C	442444	broad.mit.edu	37	X	37027036	37027036	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:37027036G>A	uc004ddl.2	+	0	605	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	185										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCCTGTGGGGAATTCTCCCC	0.647000														2			6		0	0	0.001984	0	0
GLB1L3	112937	broad.mit.edu	37	11	134183908	134183908	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:134183908G>A	uc009zdf.3	+	16	2013	c.1653G>A	c.(1651-1653)atG>atA	p.M551I	GLB1L3_uc001qho.4_Non-coding_Transcript	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	551					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AGATGAAAATGAGCTTCTTTG	0.478000														9			8		0	0	0.003080	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22864607	22864607	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:22864607C>T	uc003xcp.2	+	6	1198	c.915C>T	c.(913-915)atC>atT	p.I305I	RHOBTB2_uc011kzp.1_Silent_p.I290I|RHOBTB2_uc003xcq.2_Silent_p.I283I|BC043400_uc003xcr.3_Non-coding_Transcript	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN	Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.	283	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCCACAAGATCTACCTCTCCA	0.662000														72			30		0	0	0.008361	0	0
LOC440040	440040	broad.mit.edu	37	11	49805603	49805603	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:49805603G>A	uc010rhy.2	+	2	1278	c.800G>A	c.(799-801)gGa>gAa	p.G267E	LOC440040_uc009ymb.3_Missense_Mutation_p.G267E					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		GGTCTAGTGGGAGAATTTCTG	0.512000														31			14		0	0	0.004007	0	0
VASP	7408	broad.mit.edu	37	19	46021280	46021280	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:46021280C>T	uc002pcg.3	+	2	613	c.271C>T	c.(271-273)Ctc>Ttc	p.L91F	VASP_uc002pci.3_Missense_Mutation_p.L78F	NM_003370	NP_003361	P50552	VASP_HUMAN	Homo sapiens vasodilator-stimulated phosphoprotein (VASP), mRNA.	91	WH1.				T cell receptor signaling pathway|axon guidance|cell junction assembly	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	SH3 domain binding|actin binding|profilin binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		GGTCTGGGGCCTCAACTTCGG	0.637000														47			15		0	0	0.006122	0	0
LRP1B	53353	broad.mit.edu	37	2	141819760	141819760	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:141819760C>T	uc002tvj.1	-	7	2068	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	366					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCTTTGAATCAATTATCCTT	0.423000										TSP Lung(27;0.18)				53			15		0	0	0.002450	0	0
SMU1	55234	broad.mit.edu	37	9	33062142	33062142	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:33062142G>A	uc003zsf.1	-	4	643	c.535C>T	c.(535-537)Cct>Tct	p.P179S	SMU1_uc011lnu.1_Missense_Mutation_p.P18S	NM_018225	NP_060695	Q2TAY7	SMU1_HUMAN	Homo sapiens smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) (SMU1), mRNA.	179						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		ATACCAGGAGGAAGCAATCCC	0.428000														37			20		0	0	0.008871	0	0
C1orf186	440712	broad.mit.edu	37	1	206241558	206241558	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:206241558G>A	uc001hdt.1	-	3	870	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	Homo sapiens chromosome 1 open reading frame 186 (C1orf186), mRNA.	77						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CAGACATTGGGATGTCTCTCT	0.547000														139			64		0	0	0.003610	0	0
ABCA12	26154	broad.mit.edu	37	2	215833510	215833510	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:215833510C>T	uc002vew.3	-	37	5932	c.5712G>A	c.(5710-5712)ggG>ggA	p.G1904G	ABCA12_uc002vev.3_Silent_p.G1586G|ABCA12_uc010zjn.2_Silent_p.G831G	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1904					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)		TCAAAGGCAGCCCAAAACTCC	0.343000														99			50		0	0	0.003610	0	0
BCORL1	63035	broad.mit.edu	37	X	129189886	129189886	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:129189886G>A	uc022cdu.1	+	11	4955	c.4911G>A	c.(4909-4911)agG>agA	p.R1637R	BCORL1_uc004evc.2_Silent_p.R473R	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1637					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TTTCCTCGAGGATCTTTCAGG	0.562000														37			69		0	0	0.003610	0	0
LRP1B	53353	broad.mit.edu	37	2	141294268	141294268	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:141294268G>A	uc002tvj.1	-	45	8496	c.7524C>T	c.(7522-7524)tcC>tcT	p.S2508S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2508					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGTTGCAGGAGGAATTTTTAG	0.333000										TSP Lung(27;0.18)				16			8		0	0	0.003080	0	0
CCDC90A	63933	broad.mit.edu	37	6	13801537	13801537	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:13801537G>A	uc003nbc.2	-	3	855	c.724C>T	c.(724-726)Ctc>Ttc	p.L242F	CCDC90A_uc010jpf.3_Non-coding_Transcript	NM_001031713	NP_001026883	Q96AQ8	CC90A_HUMAN	Homo sapiens coiled-coil domain containing 90A (CCDC90A), mRNA.	242						integral to membrane|mitochondrion				cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6	Breast(50;0.0027)|Ovarian(93;0.0964)	all_hematologic(90;0.117)				TCTGCTCTGAGGGCTGAAAAT	0.333000														103			36		0	0	0.002852	0	0
HOXC12	3228	broad.mit.edu	37	12	54348920	54348920	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:54348920C>T	uc010soq.2	+	0	207	c.207C>T	c.(205-207)ctC>ctT	p.L69L		NM_173860	NP_776272	P31275	HXC12_HUMAN	Homo sapiens homeobox C12 (HOXC12), mRNA.	69					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						AGCCCTACCTCGGCAGCCCAG	0.701000														6			10		0	0	0.000978	0	0
ERBB4	2066	broad.mit.edu	37	2	212652858	212652858	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:212652858C>T	uc002veg.1	-	3	546	c.448G>A	c.(448-450)Gac>Aac	p.D150N	ERBB4_uc002veh.1_Missense_Mutation_p.D150N|ERBB4_uc010zji.1_Missense_Mutation_p.D150N|ERBB4_uc010zjj.1_Missense_Mutation_p.D150N|ERBB4_uc010fut.1_Missense_Mutation_p.D150N	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	150					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTGTTCTGGTCTACATAGACT	0.348000										TSP Lung(8;0.080)				23			4		0	0	0.009096	0	0
FAT4	79633	broad.mit.edu	37	4	126411609	126411609	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:126411609G>A	uc003ifj.4	+	16	13632	c.13632G>A	c.(13630-13632)aaG>aaA	p.K4544K	FAT4_uc011cgp.2_Silent_p.K2785K|FAT4_uc003ifi.1_Silent_p.K2021K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4544					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGAAACCGAAGGAGAAGAAGA	0.517000														26			19		0	0	0.007413	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651420	84651420	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:84651420G>A	uc002bjz.4	+	20	3264	c.3040G>A	c.(3040-3042)Gaa>Aaa	p.E1014K	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.E1014K	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1014						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.R1013M(1)		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)			GCCTATGAGGGAATATCCTGG	0.507000														48			11		0	0	0.000978	0	0
LUZP2	338645	broad.mit.edu	37	11	24936033	24936033	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:24936033C>T	uc001mqs.3	+	6	745	c.471C>T	c.(469-471)atC>atT	p.I157I	LUZP2_uc009yif.3_Silent_p.I71I|LUZP2_uc009yig.3_Intron	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	157						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CAAAAAAAATCCAAGCCCAGC	0.343000														21			8		0	0	0.008291	0	0
NF1P2	440225	broad.mit.edu	37	15	21134583	21134583	+	RNA	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:21134583G>A	uc001ytv.1	-	0		c.43C>T								Homo sapiens neurofibromin 1 pseudogene 2 (NF1P2), non-coding RNA.																		GACATTGCAAGGACTGCACAG	0.468000														3			3		0	0	0.004672	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960453	51960453	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:51960453G>A	uc002pwt.3	-	2	833	c.766C>T	c.(766-768)Caa>Taa	p.Q256*	SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Nonsense_Mutation_p.Q163*	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	256	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCATCTCCTTGGAAGACAGTC	0.572000														87			18		0	0	0.008871	0	0
CDH16	1014	broad.mit.edu	37	16	66947106	66947106	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:66947106C>T	uc002eql.3	-	8	1176	c.982G>A	c.(982-984)Gat>Aat	p.D328N	CDH16_uc010cdy.3_Missense_Mutation_p.D328N|CDH16_uc021tjx.1_Missense_Mutation_p.D328N|CDH16_uc002eqm.3_Missense_Mutation_p.D231N	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	328	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TCATTCTCATCCATCACCAGC	0.617000											OREG0007817	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CDH16|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		63			26		0	0	0.005443	0	0
KAT6A	7994	broad.mit.edu	37	8	41801318	41801318	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:41801318C>T	uc010lxb.3	-	13	2720	c.2176G>A	c.(2176-2178)Gac>Aac	p.D726N	KAT6A_uc010lxc.3_Missense_Mutation_p.D726N|KAT6A_uc003xon.4_Missense_Mutation_p.D726N|KAT6A_uc010lxd.3_Missense_Mutation_p.D726N	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	726	Catalytic.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GAAGTGATGTCTTGAGGGCAG	0.403000														60			24		0	0	0.006320	0	0
CMYA5	202333	broad.mit.edu	37	5	79033450	79033450	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:79033450G>A	uc003kgc.3	+	1	8934	c.8862G>A	c.(8860-8862)ttG>ttA	p.L2954L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2954						perinuclear region of cytoplasm		p.L2954L(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTGAGATATTGAATATTCATG	0.368000														14			6		0	0	0.001168	0	0
RGL1	23179	broad.mit.edu	37	1	183885674	183885674	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:183885674C>T	uc001gqm.3	+	16	2409	c.1948C>T	c.(1948-1950)Ccg>Tcg	p.P650S	RGL1_uc010pog.2_Missense_Mutation_p.P613S|RGL1_uc010poh.2_Missense_Mutation_p.P613S|RGL1_uc001gqo.3_Missense_Mutation_p.P615S|RGL1_uc010poi.2_Missense_Mutation_p.P586S	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	615	Ras-associating.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding	p.P650P(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CTCCTCCCCTCCGTCCTGCAA	0.507000														122			27		0	0	0.007291	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555032	44555032	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:44555032C>T	uc010xdb.2	-	0	1418	c.1182G>A	c.(1180-1182)agG>agA	p.R394R	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	394	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGCAATGAATCCTCCATAATT	0.582000														514			9		0	0	0.001855	0	0
KMO	8564	broad.mit.edu	37	1	241714307	241714307	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:241714307G>A	uc009xgp.3	+	3	586	c.275G>A	c.(274-276)gGa>gAa	p.G92E	KMO_uc001hyy.3_Missense_Mutation_p.G132E|KMO_uc009xgo.2_Missense_Mutation_p.G132E	NM_003679	NP_003670	O15229	KMO_HUMAN	Homo sapiens kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) (KMO), mRNA.	92					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TCTCTTTCAGGAAAAAAGTCT	0.403000														130			25		0	0	0.007291	0	0
OR10H5	284433	broad.mit.edu	37	19	15905669	15905669	+	Nonsense_Mutation	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15905669G>T	uc010xos.2	+	0	811	c.811G>T	c.(811-813)Gga>Tga	p.G271*		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	271					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)|liver(1)|lung(9)|ovary(1)	20						GTCTCCGGAAGGAGACACCTT	0.567000														22			11		1.61879e-10	1.78391e-10	0.001368	1	0
PCDHB16	57717	broad.mit.edu	37	5	140563698	140563698	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140563698G>A	uc003liv.3	+	0	2719	c.1564G>A	c.(1564-1566)Gag>Aag	p.E522K		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	522	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGACTACGAGGCCCTGCG	0.701000														62			15		0	0	0.003163	0	0
CDC20B	166979	broad.mit.edu	37	5	54420698	54420698	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:54420698G>A	uc003jpo.2	-	8	1325	c.1148C>T	c.(1147-1149)cCc>cTc	p.P383L	CDC20B_uc003jpn.2_Missense_Mutation_p.P383L|CDC20B_uc010ivu.2_Missense_Mutation_p.P383L|CDC20B_uc010ivv.2_3'UTR	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	383								p.W382*(1)		kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TGGATCGTGGGGCCATATTGT	0.542000														34			15		0	0	0.002450	0	0
NLRP14	338323	broad.mit.edu	37	11	7070921	7070921	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:7070921C>T	uc001mfb.1	+	5	2466	c.2143C>T	c.(2143-2145)Cct>Tct	p.P715S		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	715					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TATCACTTTCCCTGATGGTTG	0.358000														55			14		0	0	0.004990	0	0
ZNF45	7596	broad.mit.edu	37	19	44418226	44418226	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:44418226G>A	uc002oxu.2	-	3	1461	c.1362C>T	c.(1360-1362)agC>agT	p.S454S	ZNF45_uc002oxw.2_Silent_p.S454S	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	Homo sapiens zinc finger protein 45 (ZNF45), mRNA.	454					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TTGAGGCCTGGCTGAAGCCCT	0.478000														35			12		0	0	0.002450	0	0
TRIM29	23650	broad.mit.edu	37	11	119998247	119998247	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:119998247C>T	uc001pwz.3	-	2	1055	c.931G>A	c.(931-933)Gag>Aag	p.E311K	TRIM29_uc010rzi.2_Missense_Mutation_p.E50K|TRIM29_uc010rzj.2_Missense_Mutation_p.E44K|TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	311					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		AAGTTCTGCTCCAGGATGGCC	0.567000														17			14		0	0	0.002450	0	0
DBC1	1620	broad.mit.edu	37	9	121971125	121971125	+	Silent	SNP	C	T	T	rs12378280		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:121971125C>T	uc004bkc.2	-	6	1473	c.1017G>A	c.(1015-1017)caG>caA	p.Q339Q		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	339					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TGTAGCGGTTCTGCAGGTCCC	0.547000														43			19		0	0	0.008871	0	0
PLG	5340	broad.mit.edu	37	6	161152165	161152165	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:161152165G>A	uc003qtm.4	+	10	1451	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	447	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CGTCAGGTGGGAGTACTGCAA	0.507000														43			26		0	0	0.003330	0	0
CNTN5	53942	broad.mit.edu	37	11	99690398	99690398	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:99690398G>A	uc001pga.3	+	3	683	c.179G>A	c.(178-180)gGa>gAa	p.G60E	CNTN5_uc009ywv.2_Missense_Mutation_p.G60E|CNTN5_uc001pfz.3_Missense_Mutation_p.G60E|CNTN5_uc021qpb.1_Missense_Mutation_p.G60E|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	60					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCTTCATTAGGAACACTGAGT	0.433000														31			18		0	0	0.004990	0	0
MIR557	693142	broad.mit.edu	37	1	168344851	168344851	+	RNA	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:168344851G>A	uc021pel.1	+	0		c.90G>A								Homo sapiens microRNA 557 (MIR557), microRNA.																		GTCTTTGAAAGGAGGTGGAGA	0.463000														106			46		0	0	0.003610	0	0
OR4D11	219986	broad.mit.edu	37	11	59271645	59271645	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:59271645G>A	uc001noa.1	+	0	597	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						AGTTCTTGATGATTTCCAACA	0.498000														106			14		0	0	0.002450	0	0
TMEM59	9528	broad.mit.edu	37	1	54509162	54509162	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:54509162G>A	uc001cwq.3	-	3	677	c.427C>T	c.(427-429)Cct>Tct	p.P143S	TMEM59_uc001cwn.3_Missense_Mutation_p.P6S|TMEM59_uc001cwo.3_Missense_Mutation_p.P6S|TMEM59_uc001cwp.3_Missense_Mutation_p.P143S	NM_004872	NP_004863	Q9BXS4	TMM59_HUMAN	Homo sapiens transmembrane protein 59 (TMEM59), mRNA.	143						Golgi membrane|integral to membrane				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						AGAGTTAGAGGAAAGAGTAGG	0.343000														53			26		0	0	0.009535	0	0
CRYGN	155051	broad.mit.edu	37	7	151135258	151135258	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:151135258C>T	uc003wke.3	-	1	190	c.94G>A	c.(94-96)Gac>Aac	p.D32N	CRYGN_uc003wkf.3_Missense_Mutation_p.D32N|CRYGN_uc003wkg.3_Non-coding_Transcript|CRYGN_uc010lqd.1_5'Flank	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	Homo sapiens crystallin, gamma N (CRYGN), mRNA.	32	Beta/gamma crystallin 'Greek key' 1.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGCCCCGGTCCTGGAAGTTG	0.562000														43			12		0	0	0.001855	0	0
CYP4X1	260293	broad.mit.edu	37	1	47501741	47501741	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:47501741C>T	uc001cqt.3	+	5	923	c.673C>T	c.(673-675)Cac>Tac	p.H225Y	CYP4X1_uc001cqr.3_Missense_Mutation_p.H224Y|CYP4X1_uc001cqs.3_Missense_Mutation_p.H160Y	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	225						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						AATCATATTTCACCGCTTGTA	0.388000														97			41		0	0	0.007835	0	0
PCLO	27445	broad.mit.edu	37	7	82583731	82583731	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82583731C>T	uc003uhx.2	-	4	6827	c.6538G>A	c.(6538-6540)Gac>Aac	p.D2180N	PCLO_uc003uhv.2_Missense_Mutation_p.D2180N|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2111					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						GAAGGTGTGTCAGAGGGTGGG	0.443000														27			16		0	0	0.004990	0	0
LILRA1	11024	broad.mit.edu	37	19	55106176	55106176	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55106176C>T	uc002qgh.1	+	3	299	c.117C>T	c.(115-117)atC>atT	p.I39I	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Silent_p.I39I	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	39	Ig-like C2-type 1.				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)		GCTCTGTGATCACCCAGGGGA	0.542000														64			17		0	0	0.004007	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480965	140480965	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140480965G>A	uc003lio.3	+	0	732	c.732G>A	c.(730-732)caG>caA	p.Q244Q	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	244					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATTTGCACAGCCGCTCTATG	0.507000														52			17		0	0	0.004990	0	0
SCAF1	58506	broad.mit.edu	37	19	50158109	50158109	+	Silent	SNP	C	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:50158109C>G	uc002poq.3	+	8	3724	c.3600C>G	c.(3598-3600)ggC>ggG	p.G1200G		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	1200	Necessary for interaction with the CTD domain of POLR2A.				RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GCTCTGAGGGCCGTGGGGACA	0.667000														5			8		0	0	0.003080	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36248875	36248875	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:36248875C>T	uc001mwk.1	+	4	732	c.695C>T	c.(694-696)aCc>aTc	p.T232I	LDLRAD3_uc010rey.1_Missense_Mutation_p.T183I|LDLRAD3_uc010rez.1_Missense_Mutation_p.T111I|LDLRAD3_uc010rfa.1_Intron	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN	Homo sapiens low density lipoprotein receptor class A domain containing 3 (LDLRAD3), mRNA.	232						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				TGCAACGTCACCTACAACGTC	0.627000														52			16		0	0	0.007413	0	0
SORCS3	22986	broad.mit.edu	37	10	106974266	106974266	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:106974266G>A	uc001kyi.1	+	17	2669	c.2442G>A	c.(2440-2442)caG>caA	p.Q814Q	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	814						integral to membrane	neuropeptide receptor activity	p.Q814H(4)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCAAGGCCCAGATGTGCCCTG	0.547000														32			14		0	0	0.001855	0	0
MKRN3	7681	broad.mit.edu	37	15	23811028	23811028	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:23811028C>T	uc001ywh.4	+	0	575	c.99C>T	c.(97-99)ccC>ccT	p.P33P	MKRN3_uc001ywi.3_Silent_p.P33P|MKRN3_uc010ayi.1_Silent_p.P33P	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	33						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.P33P(2)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CGGACCTTCCCGTCTGTGAGC	0.682000														23			9		0	0	0.004482	0	0
GPR111	222611	broad.mit.edu	37	6	47646785	47646785	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:47646785G>A	uc010jzj.1	+	3	387	c.386G>A	c.(385-387)gGa>gAa	p.G129E	GPR111_uc003oyy.3_Missense_Mutation_p.G61E	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	129					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GACACTCAGGGAAATATGGGG	0.458000														28			20		0	0	0.008871	0	0
MTUS2	23281	broad.mit.edu	37	13	29601010	29601010	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:29601010C>T	uc001usl.4	+	0	2263	c.2205C>T	c.(2203-2205)ttC>ttT	p.F735F		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	725	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GACATCCTTTCAGTCAAATGA	0.433000														36			6		0	0	0.004482	0	0
MARCH10	162333	broad.mit.edu	37	17	60879061	60879061	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:60879061G>A	uc010dds.3	-	1	321	c.36C>T	c.(34-36)ttC>ttT	p.F12F	MARCH10_uc010ddr.3_Silent_p.F12F|MARCH10_uc002jag.4_Silent_p.F12F|MARCH10_uc002jah.2_Silent_p.F12F	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	12							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GAACATCGCTGAAGAACTTCT	0.453000														30			81		0	0	0.003610	0	0
TSEN15	116461	broad.mit.edu	37	1	184041970	184041970	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:184041970C>T	uc001gqt.4	+	4	584	c.505C>T	c.(505-507)Ctt>Ttt	p.L169F	TSEN15_uc001gqu.4_Silent_p.L121L|TSEN15_uc009wyg.3_Non-coding_Transcript	NM_052965	NP_443197	Q8WW01	SEN15_HUMAN	Homo sapiens tRNA splicing endonuclease 15 homolog (S. cerevisiae) (TSEN15), transcript variant 1, mRNA.	169					mRNA processing|tRNA processing	nucleolus	protein binding	p.S168Y(1)		breast(1)|kidney(3)|large_intestine(2)|lung(2)	8						GAATATTTCTCTTAGAAGATG	0.313000														39			8		0	0	0.000978	0	0
SLC22A10	387775	broad.mit.edu	37	11	63067087	63067087	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:63067087C>T	uc009yor.3	+	5	1264	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Silent_p.I192I	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	352						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGATCTGTATCCTGGTATTTT	0.423000														17			13		0	0	0.001855	0	0
COL19A1	1310	broad.mit.edu	37	6	70866042	70866042	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:70866042C>T	uc003pfc.1	+	31	2220	c.2103C>T	c.(2101-2103)gcC>gcT	p.A701A	COL19A1_uc010kam.2_Silent_p.A597A	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	701	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ACTGCCAAGCCAGTGTCCCAG	0.468000														23			5		0	0	0.001168	0	0
CCNJL	79616	broad.mit.edu	37	5	159686609	159686609	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:159686609G>A	uc003lyb.1	-	4	846	c.594C>T	c.(592-594)ttC>ttT	p.F198F	CCNJL_uc011dee.1_Silent_p.F150F|CCNJL_uc003lyc.1_Non-coding_Transcript|CCNJL_uc011def.1_Silent_p.F150F	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Homo sapiens cyclin J-like (CCNJL), mRNA.	198						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTAGTCCAGGAAGTGGGCAG	0.622000														34			6		0	0	0.001984	0	0
SEMA3D	223117	broad.mit.edu	37	7	84697527	84697527	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:84697527G>A	uc003uic.3	-	4	609	c.569C>T	c.(568-570)cCt>cTt	p.P190L	SEMA3D_uc010led.3_Missense_Mutation_p.P190L|SEMA3D_uc010lee.1_Missense_Mutation_p.P190L	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	190	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGAAGCAAAAGGCTGCTGAGG	0.358000														20			19		0	0	0.002299	0	0
KCNG4	93107	broad.mit.edu	37	16	84270666	84270666	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:84270666G>A	uc010voc.2	-	1	547	c.426C>T	c.(424-426)tcC>tcT	p.S142S	KCNG4_uc002fhu.1_Silent_p.S142S	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	142						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CCTCCTGGAAGGACAGCGCGC	0.652000														23			4		0	0	0.009096	0	0
DNAH8	1769	broad.mit.edu	37	6	38690664	38690664	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:38690664C>T	uc021yzh.1	+	1	188	c.79C>T	c.(79-81)Cgt>Tgt	p.R27C	DNAH8_uc003ooe.2_5'UTR	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGCCCCTCCCCGTTCAGAAGA	0.612000														13			7		0	0	0.001984	0	0
MYLK2	85366	broad.mit.edu	37	20	30419644	30419644	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:30419644C>T	uc002wwq.2	+	10	1665	c.1563C>T	c.(1561-1563)atC>atT	p.I521I	MYLK2_uc002wws.2_Silent_p.I138I|MYLK2_uc010gdw.1_Non-coding_Transcript	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	521	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCAACCTCATCGTCAAGGACC	0.532000														33			21		0	0	0.002299	0	0
STAB1	23166	broad.mit.edu	37	3	52553332	52553332	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:52553332C>T	uc003dej.3	+	48	5161	c.5087C>T	c.(5086-5088)gCc>gTc	p.A1696V	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.3_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1696	FAS1 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GACCATGAGGCCGTGAACGGC	0.637000														107			51		0	0	0.003610	0	0
PDE1C	5137	broad.mit.edu	37	7	31855719	31855719	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:31855719C>T	uc003tcm.2	-	14	2093	c.1632G>A	c.(1630-1632)gaG>gaA	p.E544E	PDE1C_uc003tcn.1_Silent_p.E544E|PDE1C_uc003tco.2_Silent_p.E604E|PDE1C_uc003tcr.3_Silent_p.E544E|PDE1C_uc003tcs.3_Silent_p.E544E	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	544					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.A543S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTTGCTGCTCCTCTGCGGCCA	0.493000														98			67		0	0	0.003610	0	0
TRRAP	8295	broad.mit.edu	37	7	98565207	98565207	+	Silent	SNP	C	T	T	rs139721649		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:98565207C>T	uc003upp.3	+	49	7586	c.7377C>T	c.(7375-7377)ttC>ttT	p.F2459F	TRRAP_uc011kis.2_Silent_p.F2441F|TRRAP_uc003upr.3_Silent_p.F2158F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2459					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.F2441F(2)|p.F2459F(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CAAAGTTTTTCGAGGTTTTTG	0.552000														61			15		0	0	0.002450	0	0
FOXJ1	2302	broad.mit.edu	37	17	74136158	74136158	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:74136158G>A	uc002jqx.3	-	1	674	c.319C>T	c.(319-321)Cca>Tca	p.P107S	LOC100507218_uc002jqy.2_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	107					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			TCGGGGGGTGGGGCCTGCAGC	0.726000														18			7		0	0	0.004482	0	0
SERPINB6	5269	broad.mit.edu	37	6	2948624	2948624	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:2948624G>A	uc003muk.3	-	5	3034	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S	SERPINB6_uc003mui.3_Missense_Mutation_p.P230S|SERPINB6_uc003muj.3_Non-coding_Transcript|SERPINB6_uc003mul.3_Missense_Mutation_p.P347S|SERPINB6_uc003mum.3_Missense_Mutation_p.P347S|SERPINB6_uc003mun.3_Missense_Mutation_p.P347S|SERPINB6_uc003muo.3_Missense_Mutation_p.P347S	NM_004568	NP_004559	P35237	SPB6_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 6 (SERPINB6), transcript variant 1, mRNA.	347					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	CAGAAGCGGGGGACGAATCTG	0.587000														46			8		0	0	0.004482	0	0
LRFN5	145581	broad.mit.edu	37	14	42356279	42356279	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:42356279G>A	uc001wvm.3	+	2	1649	c.451G>A	c.(451-453)Gag>Aag	p.E151K	LRFN5_uc010ana.3_Missense_Mutation_p.E151K	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	151						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CGCCCTTGAGGAGCTGGATCT	0.393000										HNSCC(30;0.082)				45			13		0	0	0.003163	0	0
CLCA1	1179	broad.mit.edu	37	1	86957012	86957012	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:86957012C>T	uc001dlt.3	+	8	1682	c.1422C>T	c.(1420-1422)gcC>gcT	p.A474A	CLCA1_uc001dls.1_Silent_p.A413A	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	474	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CTTTTGGGGCCCTTTCATCAG	0.388000														47			22		0	0	0.002299	0	0
GHSR	2693	broad.mit.edu	37	3	172166133	172166133	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:172166133G>A	uc003fib.2	-	0	114	c.71C>T	c.(70-72)tCc>tTc	p.S24F	GHSR_uc011bpv.2_Missense_Mutation_p.S24F	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	24					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	p.S24S(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GTTGCCGGGGGAAGCATCCCA	0.687000														19			5		0	0	0.000602	0	0
WNT2	7472	broad.mit.edu	37	7	116937698	116937698	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:116937698G>A	uc003viz.3	-	3	1121	c.821C>T	c.(820-822)tCt>tTt	p.S274F	WNT2_uc003vja.3_Missense_Mutation_p.S178F	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	274					Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GTAGTCTGGAGAATTCTCAAA	0.413000														36			22		0	0	0.003954	0	0
COL17A1	1308	broad.mit.edu	37	10	105819949	105819949	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:105819949C>T	uc001kxr.3	-	13	1238	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	COL17A1_uc010qqv.1_Missense_Mutation_p.E341K	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	357	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGCTCCATCTCCTTCTTGGCA	0.542000														41			17		0	0	0.006122	0	0
C12orf50	160419	broad.mit.edu	37	12	88379725	88379725	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:88379725C>T	uc001tam.1	-	10	1196	c.1028G>A	c.(1027-1029)aGg>aAg	p.R343K	C12orf50_uc001tan.3_Missense_Mutation_p.R358K	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	343										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CGCGACAGTCCTGACAGCATC	0.488000														35			49		0	0	0.003610	0	0
LRP1B	53353	broad.mit.edu	37	2	141083357	141083357	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:141083357G>A	uc002tvj.1	-	79	13286	c.12314C>T	c.(12313-12315)tCa>tTa	p.S4105L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4105					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.S4105S(1)|p.N4104N(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)		AGAGACTACTGAATTAGAGCC	0.363000										TSP Lung(27;0.18)				19			7		0	0	0.001984	0	0
COL12A1	1303	broad.mit.edu	37	6	75899049	75899049	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:75899049C>T	uc021zbv.1	-	5	742	c.707G>A	c.(706-708)gGg>gAg	p.G236E	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.G236E|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_5'Flank	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	236	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AACTCTTGCCCCAGCAGATTC	0.378000														22			7		0	0	0.001984	0	0
KCNG1	3755	broad.mit.edu	37	20	49620806	49620806	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:49620806G>A	uc002xwa.4	-	2	1607	c.1312C>T	c.(1312-1314)Cag>Tag	p.Q438*		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	438						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCCACTACCTGGCCCGGGGTG	0.632000														49			19		0	0	0.002780	0	0
ODZ2	57451	broad.mit.edu	37	5	167517634	167517634	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:167517634C>T	uc010jjd.3	+	7	1571	c.1571C>T	c.(1570-1572)cCc>cTc	p.P524L	ODZ2_uc003lzq.2_Missense_Mutation_p.P403L|ODZ2_uc003lzr.4_Missense_Mutation_p.P292L	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GTTGAGTCTCCCAGGGAACGC	0.522000														57			7		0	0	0.003080	0	0
PLB1	151056	broad.mit.edu	37	2	28849349	28849349	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:28849349G>A	uc002rmb.2	+	50	3678	c.3634G>A	c.(3634-3636)Gac>Aac	p.D1212N	PLB1_uc010ezj.2_Missense_Mutation_p.D1201N|PLB1_uc002rme.2_Missense_Mutation_p.D177N	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1212	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGGGGTCAACGACTTGTGTCA	0.547000														32			6		0	0	0.001984	0	0
USH2A	7399	broad.mit.edu	37	1	216498891	216498891	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:216498891G>A	uc001hku.1	-	5	1286	c.899C>T	c.(898-900)tCa>tTa	p.S300L	USH2A_uc001hkv.3_Missense_Mutation_p.S300L	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	300	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACGGCAATGTGATTGGGCATG	0.502000										HNSCC(13;0.011)				32			6		0	0	0.001984	0	0
MRAP2	112609	broad.mit.edu	37	6	84765107	84765107	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:84765107G>A	uc003pkg.4	+	1	260	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	MRAP2_uc010kbo.3_5'UTR	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.	24					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						TTACACCTGGGAATATGAATA	0.393000														43			21		0	0	0.008871	0	0
ABCC4	10257	broad.mit.edu	37	13	95861831	95861831	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:95861831G>A	uc001vmd.4	-	5	761	c.642C>T	c.(640-642)ttC>ttT	p.F214F	ABCC4_uc010afk.3_Silent_p.F214F|ABCC4_uc001vme.2_Silent_p.F214F|ABCC4_uc010tih.1_Silent_p.F139F|ABCC4_uc001vmf.2_Silent_p.F171F|ABCC4_uc010afl.1_Silent_p.F171F|ABCC4_uc010afm.1_Silent_p.F227F	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	214	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CTGCCCACAGGAAGTGTAAGA	0.473000														21			4		0	0	0.000602	0	0
CCDC141	285025	broad.mit.edu	37	2	179702064	179702064	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179702064G>A	uc002une.2	-	22	4000	c.3882C>T	c.(3880-3882)ttC>ttT	p.F1294F	CCDC141_uc002unf.1_Silent_p.F773F	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	719							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCTCAGCTTTGAACTGGAGGT	0.473000														56			17		0	0	0.004990	0	0
HTR1A	3350	broad.mit.edu	37	5	63257112	63257112	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:63257112C>T	uc011cqt.2	-	0	435	c.435G>A	c.(433-435)gtG>gtA	p.V145V		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	145					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TCCTCTTGTTCACGTAGTCGA	0.642000														31			8		0	0	0.004482	0	0
PTPRF	5792	broad.mit.edu	37	1	44083235	44083235	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:44083235C>T	uc001cjr.3	+	23	4531	c.4191C>T	c.(4189-4191)atC>atT	p.I1397I	PTPRF_uc001cjs.3_Silent_p.I1388I|PTPRF_uc001cju.3_Silent_p.I786I|PTPRF_uc009vwt.3_Silent_p.I957I|PTPRF_uc001cjv.3_Silent_p.I868I|PTPRF_uc001cjw.3_Silent_p.I623I	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1397	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTACCTCTATCGATGGTGAGC	0.552000														109			50		0	0	0.003610	0	0
RYR3	6263	broad.mit.edu	37	15	34145783	34145783	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:34145783G>A	uc001zhi.3	+	95	13769	c.13699G>A	c.(13699-13701)Gga>Aga	p.G4567R	RYR3_uc010bar.3_Missense_Mutation_p.G4562R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4567					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGATCTCTACGGAGCAGAACG	0.488000														24			10		0	0	0.001368	0	0
CREB3L4	148327	broad.mit.edu	37	1	153946425	153946425	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:153946425G>A	uc001fdm.1	+	9	1340	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	CREB3L4_uc001fdn.3_Missense_Mutation_p.E358K|CREB3L4_uc010pef.1_Missense_Mutation_p.E211K|CREB3L4_uc001fdo.3_Missense_Mutation_p.E338K|CREB3L4_uc001fdr.2_Missense_Mutation_p.E358K|CREB3L4_uc001fdq.2_Missense_Mutation_p.E338K	NM_130898	NP_570968	Q8TEY5	CR3L4_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 4 (CREB3L4), transcript variant 1, mRNA.	358					response to unfolded protein	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGACTGAGGGAGCCACCTGG	0.552000														30			14		0	0	0.001855	0	0
IFNA14	3448	broad.mit.edu	37	9	21239548	21239548	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:21239548C>T	uc010mis.3	-	0	431	c.387G>A	c.(385-387)gtG>gtA	p.V129V	IFNA14_uc003zoo.1_Non-coding_Transcript	NM_002172	NP_002163	P01570	IFN14_HUMAN	Homo sapiens interferon, alpha 14 (IFNA14), mRNA.	129					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GAGTCTCTTCCACCCCAACCT	0.453000														144			43		0	0	0.003610	0	0
TOPORS	10210	broad.mit.edu	37	9	32541428	32541428	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:32541428G>A	uc003zrb.3	-	2	3287	c.3095C>T	c.(3094-3096)tCa>tTa	p.S1032L	TOPORS_uc003zrc.3_Missense_Mutation_p.S967L	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.	1032					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|DNA topoisomerase I binding|SUMO ligase activity|antigen binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TGACATTAATGATGTCCGTGG	0.388000														39			4		0	0	0.000602	0	0
OR52B2	255725	broad.mit.edu	37	11	6190735	6190735	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:6190735G>A	uc010qzy.2	-	0	822	c.822C>T	c.(820-822)gtC>gtT	p.V274V		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAAGATATGGACATGTTGAG	0.463000														27			15		0	0	0.003163	0	0
KSR2	283455	broad.mit.edu	37	12	117992998	117992998	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:117992998G>A	uc001two.2	-	8	1462	c.1407C>T	c.(1405-1407)ctC>ctT	p.L469L		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	498					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGTTTTGGGGAGCGTCTGAC	0.567000														9			11		0	0	0.000978	0	0
AXL	558	broad.mit.edu	37	19	41743986	41743986	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:41743986C>T	uc010ehj.3	+	6	1111	c.921C>T	c.(919-921)atC>atT	p.I307I	AXL_uc010ehi.1_Silent_p.I307I|AXL_uc010ehk.3_Silent_p.I307I	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	307	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.H306Y(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CTTATCACATCCGCGTGGCAT	0.652000														88			49		0	0	0.003610	0	0
CD1C	911	broad.mit.edu	37	1	158263016	158263016	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158263016A>G	uc001fru.3	+	4	1196	c.904A>G	c.(904-906)Atg>Gtg	p.M302V	CD1C_uc021pbl.1_Intron	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	302					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CCACTTTTCCATGAATTGGAT	0.378000														122			48		0	0	0.003610	0	0
SERPINA10	51156	broad.mit.edu	37	14	94752521	94752521	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:94752521C>T	uc001yct.3	-	3	1533	c.1067G>A	c.(1066-1068)gGa>gAa	p.G356E	SERPINA10_uc001ycu.4_Missense_Mutation_p.G356E	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	356					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCTTCTGATTCCCATCTGCCT	0.433000														45			14		0	0	0.002450	0	0
LHFPL4	375323	broad.mit.edu	37	3	9547816	9547816	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:9547816C>T	uc003bry.3	-	2	764	c.478G>A	c.(478-480)Ggg>Agg	p.G160R		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	160						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GTCTTGGCCCCACACATGTCC	0.627000														48			23		0	0	0.003330	0	0
XDH	7498	broad.mit.edu	37	2	31600069	31600069	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:31600069C>T	uc002rnv.1	-	13	1356	c.1277G>A	c.(1276-1278)cGg>cAg	p.R426Q		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	426					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	ATCTTCTCTCCGGGAGGCCTG	0.512000														51			17		0	0	0.008871	0	0
ACSM2A	123876	broad.mit.edu	37	16	20491904	20491904	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:20491904G>A	uc010bwe.3	+	11	1530	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N	ACSM2A_uc010vax.1_Missense_Mutation_p.D352N|ACSM2A_uc002dhf.4_Missense_Mutation_p.D431N|ACSM2A_uc002dhg.4_Missense_Mutation_p.D431N|ACSM2A_uc010vay.2_Missense_Mutation_p.D352N|ACSM2A_uc002dhh.4_Missense_Mutation_p.D61N	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	431					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.P430P(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGACAATCCCGACAAGACAGC	0.493000														59			42		0	0	0.003610	0	0
TRPC3	7222	broad.mit.edu	37	4	122854062	122854062	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:122854062G>A	uc003ieg.2	-	1	425	c.351C>T	c.(349-351)ctC>ctT	p.L117L	TRPC3_uc010inr.2_Silent_p.L44L|TRPC3_uc003ief.2_Silent_p.L44L|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	32					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CGGCGGCGTCGAGGAAGCGCT	0.657000														21			15		0	0	0.004007	0	0
USP22	23326	broad.mit.edu	37	17	20921375	20921375	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:20921375G>A	uc002gym.4	-	4	774	c.570C>T	c.(568-570)atC>atT	p.I190I	USP22_uc002gyn.4_Silent_p.I178I|USP22_uc002gyl.4_Silent_p.I85I	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	Homo sapiens ubiquitin specific peptidase 22 (USP22), mRNA.	190					cell cycle|embryo development|histone H4 acetylation|histone deubiquitination|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						GGGCCTGCACGATGCAGTTCA	0.572000														43			15		0	0	0.004990	0	0
FLG	2312	broad.mit.edu	37	1	152283599	152283599	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152283599C>T	uc001ezu.1	-	2	3799	c.3763G>A	c.(3763-3765)Gaa>Aaa	p.E1255K	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1255	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATGATTGTTCCTGTCCCACC	0.562000									Ichthyosis					112			60		0	0	0.003610	0	0
FAM131B	9715	broad.mit.edu	37	7	143053835	143053835	+	Silent	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:143053835T>A	uc010lpa.3	-	6	1035	c.891A>T	c.(889-891)gcA>gcT	p.A297A	FAM131B_uc010loz.3_Silent_p.A237A|FAM131B_uc003wct.3_Silent_p.A269A|FAM131B_uc003wcu.4_Silent_p.A269A	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	269										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CAGGGCCCCTTGCCAGGTCCA	0.632000														106			20		0	0	0.010504	0	0
EPSTI1	94240	broad.mit.edu	37	13	43566154	43566154	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:43566154C>T	uc001uyw.1	-	0	224	c.148G>A	c.(148-150)Ggc>Agc	p.G50S	EPSTI1_uc001uyx.1_Missense_Mutation_p.G50S	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN	Homo sapiens epithelial stromal interaction 1 (breast) (EPSTI1), transcript variant 1, mRNA.	50										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		CGCGAAGGGCCCTTAGGGGCT	0.672000														75			13		0	0	0.006122	0	0
SORCS3	22986	broad.mit.edu	37	10	107022213	107022213	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:107022213G>A	uc001kyi.1	+	25	3795	c.3568G>A	c.(3568-3570)Gag>Aag	p.E1190K		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1190						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGAGCCTGAGGAGCTGCTGGA	0.532000														26			8		0	0	0.006214	0	0
MST1P9	11223	broad.mit.edu	37	1	17086000	17086000	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:17086000C>T	uc010ock.2	-	6	897	c.897G>A	c.(895-897)ggG>ggA	p.G299G	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						CGCCCGCCCCCCCGCCCACCT	0.657000														5			8		0	0	0.004482	0	0
GPR171	29909	broad.mit.edu	37	3	150917163	150917163	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:150917163C>T	uc003eyq.4	-	2	251	c.11G>A	c.(10-12)aGt>aAt	p.S4N	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|GPR171_uc021xfy.1_Missense_Mutation_p.S4N	NM_013308	NP_037440	O14626	GP171_HUMAN	Homo sapiens G protein-coupled receptor 171 (GPR171), mRNA.	4						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAAGAACGAACTGTTTGTCAT	0.338000														32			14		0	0	0.003163	0	0
LARGE	9215	broad.mit.edu	37	22	33733769	33733769	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:33733769G>A	uc003and.4	-	10	1729	c.1150C>T	c.(1150-1152)Ccc>Tcc	p.P384S	LARGE_uc011amd.2_Missense_Mutation_p.P183S|LARGE_uc003ane.4_Missense_Mutation_p.P384S|LARGE_uc010gwp.3_Intron|LARGE_uc011ame.2_Missense_Mutation_p.P316S|LARGE_uc011amf.2_Missense_Mutation_p.P384S|LARGE_uc010gwq.1_Non-coding_Transcript	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	384					N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	p.P384S(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AGCTTCTTGGGGGAGTTCCAG	0.552000														30			8		0	0	0.004482	0	0
EPN1	29924	broad.mit.edu	37	19	56204341	56204342	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:56204341_56204342CC>TT	uc002qlw.3	+	8	1544_1545	c.1202_1203CC>TT	c.(1201-1203)ccc>cTT	p.P401L	EPN1_uc002qlv.3_Missense_Mutation_p.P375L|EPN1_uc010etd.3_Missense_Mutation_p.P400L|EPN1_uc002qlx.3_Missense_Mutation_p.P487L	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	Homo sapiens epsin 1 (EPN1), transcript variant 2, mRNA.	401	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GACACGGAGCCCGACGAGTTCT	0.703000														91			27		0	0	0.004672	0	0
GPR132	29933	broad.mit.edu	37	14	105518156	105518156	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:105518156G>C	uc001yqd.3	-	3	1217	c.318C>G	c.(316-318)caC>caG	p.H106Q	GPR132_uc001yqc.3_5'UTR|GPR132_uc001yqe.3_Missense_Mutation_p.H97Q	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.	106					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GGGTCCAGCGGTGCTGGTTGC	0.602000														90			51		0	0	0.003610	0	0
HAVCR1	26762	broad.mit.edu	37	5	156484965	156484965	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:156484965G>A	uc010jij.1	-	2	174	c.-11_splice	c.e2-1		HAVCR1_uc003lwi.2_5'UTR|HAVCR1_uc021ygj.1_Splice_Site|HAVCR1_uc011ddm.2_5'UTR	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.						interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TATGGGATCAGCCTGAAGGAA	0.488000														134			23		0	0	0.004656	0	0
GRIA1	2890	broad.mit.edu	37	5	152873489	152873489	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:152873489G>A	uc011dcy.2	+	2	140	c.113_splice	c.e2-1	p.W38_splice	GRIA1_uc003lva.4_Splice_Site_p.G28_splice|GRIA1_uc003luy.4_Splice_Site_p.G28_splice|GRIA1_uc003luz.4_Splice_Site|GRIA1_uc011dcv.2_Intron|GRIA1_uc011dcw.2_Splice_Site_p.G28_splice|GRIA1_uc011dcx.2_Splice_Site|GRIA1_uc011dcz.2_Splice_Site_p.W38_splice|GRIA1_uc010jia.1_Splice_Site_p.W8_splice	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	28					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTCTCATAGGGGGATTATTTC	0.463000														40			13		0	0	0.006122	0	0
UNC5A	90249	broad.mit.edu	37	5	176306320	176306320	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:176306320T>C	uc003mey.3	+	13	2386	c.2194T>C	c.(2194-2196)Ttt>Ctt	p.F732L		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	732					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACACAAGGTTTGCTGAGCT	0.622000														70			28		0	0	0.006320	0	0
ISL1	3670	broad.mit.edu	37	5	50687127	50687127	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:50687127G>A	uc003jor.3	+	4	1333	c.785G>A	c.(784-786)gGa>gAa	p.G262E		NM_002202	NP_002193	P61371	ISL1_HUMAN	Homo sapiens ISL LIM homeobox 1 (ISL1), mRNA.	262	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				GGGATGACAGGAACTCCCATG	0.517000														15			8		0	0	0.003080	0	0
ARHGAP19	84986	broad.mit.edu	37	10	99023382	99023382	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:99023382C>A	uc001knb.3	-	3	454	c.408G>T	c.(406-408)ttG>ttT	p.L136F	ARHGAP19_uc001kmy.3_Non-coding_Transcript|ARHGAP19_uc001kna.3_Missense_Mutation_p.L127F|ARHGAP19_uc009xvj.3_Missense_Mutation_p.L136F|ARHGAP19_uc009xvi.3_Non-coding_Transcript|ARHGAP19_uc009xvk.3_Intron	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Homo sapiens Rho GTPase activating protein 19 (ARHGAP19), transcript variant 1, mRNA.	136	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		CCTCTACTCGCAAGTCTGTTT	0.378000														26			8		0.000157383	0.000171913	0.003080	1	0
SEC14L5	9717	broad.mit.edu	37	16	5053504	5053504	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:5053504A>C	uc002cye.2	+	10	1412	c.1232A>C	c.(1231-1233)aAt>aCt	p.N411T		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	411	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GTTGAGGACAATTACCCAGAG	0.642000														62			15		0	0	0.002450	0	0
FLG2	388698	broad.mit.edu	37	1	152326848	152326848	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152326848G>A	uc001ezw.4	-	2	3487	c.3414C>T	c.(3412-3414)tcC>tcT	p.S1138S	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1138	Ser-rich.						calcium ion binding|structural molecule activity	p.S1138S(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)			CAAAGCCAGAGGATTTACCTG	0.532000														105			63		0	0	0.003610	0	0
WIPF1	7456	broad.mit.edu	37	2	175436886	175436887	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:175436886_175436887CC>TT	uc002uiz.3	-	4	746_747	c.646_647GG>AA	c.(646-648)ggg>AAg	p.G216K	BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Missense_Mutation_p.G216K|WIPF1_uc010fqt.1_Missense_Mutation_p.G216K|WIPF1_uc002ujc.1_Missense_Mutation_p.G216K|WIPF1_uc002ujb.2_Missense_Mutation_p.G216K|WIPF1_uc010zep.1_Missense_Mutation_p.G216K	NM_003387	NP_003378	O43516	WIPF1_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA.	216					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	p.P215P(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						AGGAGTGGGCCCGGGGCTGGGC	0.644000														85			17		0	0	0.004672	0	0
LMOD1	25802	broad.mit.edu	37	1	201869306	201869306	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:201869306C>T	uc021phl.1	-	1	1083	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	LMOD1_uc021phm.1_Missense_Mutation_p.E279K|LMOD1_uc010ppu.2_Missense_Mutation_p.E228K	NM_012134	NP_036266	P29536	LMOD1_HUMAN	Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA.	279	8 X approximate tandem repeats.				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GCTTCCTTTTCATGTAAGGGT	0.493000														23			12		0	0	0.002450	0	0
IQCK	124152	broad.mit.edu	37	16	19745082	19745082	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:19745082C>T	uc002dgr.3	+	3	1008	c.309C>T	c.(307-309)tcC>tcT	p.S103S	IQCK_uc002dgs.3_Non-coding_Transcript|IQCK_uc010vat.2_Silent_p.S103S|IQCK_uc010bwc.3_Non-coding_Transcript|IQCK_uc010vau.2_Silent_p.S15S	NM_153208	NP_694940	Q8N0W5	IQCK_HUMAN	Homo sapiens IQ motif containing K (IQCK), mRNA.	103										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						TTCCGGTTTCCCATTTCACCA	0.438000														48			25		0	0	0.003330	0	0
NCEH1	57552	broad.mit.edu	37	3	172351691	172351691	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:172351691G>A	uc011bpx.2	-	4	1059	c.921C>T	c.(919-921)atC>atT	p.I307I	NCEH1_uc003fig.3_Silent_p.I299I|NCEH1_uc011bpw.2_Silent_p.I134I|NCEH1_uc011bpy.2_Silent_p.I134I	NM_001146276	NP_001139750	Q6PIU2	NCEH1_HUMAN	Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1), transcript variant 1, mRNA.	267					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						GATTGTTAACGATCATTGCCT	0.478000														39			11		0	0	0.001855	0	0
DTX2	113878	broad.mit.edu	37	7	76111856	76111856	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:76111856C>T	uc011kgk.1	+	2	379	c.27C>T	c.(25-27)ttC>ttT	p.F9F	DTX2_uc003uff.4_Silent_p.F100F|DTX2_uc003ufg.4_Silent_p.F100F|DTX2_uc003ufh.4_Silent_p.F100F|DTX2_uc003ufj.4_Silent_p.F100F	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.	100	WWE 1.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GACACCTGTTCCCCCAGCACT	0.552000														54			25		0	0	0.004656	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414692	105414692	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:105414692G>A	uc010axc.1	-	6	7216	c.7096C>T	c.(7096-7098)Ctc>Ttc	p.L2366F	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.L2266F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2366						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGAACGCTGAGGTCAGTGGTC	0.652000														116			31		0	0	0.002096	0	0
RYR3	6263	broad.mit.edu	37	15	33954891	33954891	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:33954891C>T	uc001zhi.3	+	34	5230	c.5160C>T	c.(5158-5160)ttC>ttT	p.F1720F	RYR3_uc010bar.3_Silent_p.F1720F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1720	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGTGGAGTTCCAGTTTGTGC	0.562000														35			10		0	0	0.008291	0	0
SDPR	8436	broad.mit.edu	37	2	192700913	192700913	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:192700913G>A	uc002utb.3	-	1	1369	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	338						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GGGACGCTTCGGAATGACCCT	0.562000														62			32		0	0	0.002836	0	0
IQCF1	132141	broad.mit.edu	37	3	51929158	51929158	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:51929158G>A	uc003dbv.3	-	3	464	c.366C>T	c.(364-366)tcC>tcT	p.S122S	IQCF1_uc003dbq.4_Intron	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	Homo sapiens IQ motif containing F1 (IQCF1), mRNA.	122										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACTCCTTCCGGGAGAAGGCCT	0.607000														74			9		0	0	0.006214	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185276156	185276156	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:185276156A>G	uc001grl.3	-	6	1270	c.647T>C	c.(646-648)cTg>cCg	p.L216P	IVNS1ABP_uc001grj.3_5'Flank|IVNS1ABP_uc009wyj.3_5'UTR|IVNS1ABP_uc009wyk.3_Non-coding_Transcript	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	Homo sapiens influenza virus NS1A binding protein (IVNS1ABP), mRNA.	216	BACK.|Sufficient for AHR interaction and signaling.				RNA splicing|interspecies interaction between organisms|response to virus|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						CTCTTCCATCAGCTCTTCCAG	0.358000														29			14		0	0	0.001855	0	0
MARK1	4139	broad.mit.edu	37	1	220824045	220824045	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:220824045G>A	uc009xdw.3	+	13	2151	c.1554G>A	c.(1552-1554)caG>caA	p.Q518Q	MARK1_uc001hmn.4_Silent_p.Q518Q|MARK1_uc010pun.2_Silent_p.Q518Q|MARK1_uc001hmm.4_Silent_p.Q496Q	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	518					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TAGCATTGCAGAATGGAAAAG	0.428000														72			36		0	0	0.006999	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161022294	161022294	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:161022294G>A	uc001fxl.3	-	7	1222	c.876C>T	c.(874-876)atC>atT	p.I292I	ARHGAP30_uc001fxk.3_Silent_p.I292I|ARHGAP30_uc001fxm.3_Silent_p.I138I|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Silent_p.I138I	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	292					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)			CTAAATTGAAGATAGACCTCC	0.547000														174			30		0	0	0.007291	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254126	39254126	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:39254126C>T	uc010wfo.2	-	0	250	c.211G>A	c.(211-213)Gtg>Atg	p.V71M		NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN	Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA.	71	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						CAGCTGGACACACAGCAGCTG	0.667000														21			5		0	0	0.001984	0	0
BEND3	57673	broad.mit.edu	37	6	107390735	107390735	+	Silent	SNP	G	A	A	rs146650207		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:107390735G>A	uc003prs.2	-	4	2310	c.1660C>T	c.(1660-1662)Ctg>Ttg	p.L554L		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	554	BEN 3.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						TTGCTGAGCAGGCAGTCGGCA	0.637000														32			18		0	0	0.006122	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119938929	119938929	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:119938929G>A	uc003yon.4	-	3	944	c.621C>T	c.(619-621)ttC>ttT	p.F207F	TNFRSF11B_uc010mdc.1_Non-coding_Transcript	NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	207	Death 1.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CAGCAAACCTGAAGAATGCCT	0.403000														17			9		0	0	0.004482	0	0
ARID1B	57492	broad.mit.edu	37	6	157521850	157521850	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:157521850C>T	uc003qqp.3	+	16	4083	c.4083C>T	c.(4081-4083)cgC>cgT	p.R1361R	ARID1B_uc003qqo.3_Silent_p.R1374R|ARID1B_uc003qqn.3_Silent_p.R1414R	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1361					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.G1360S(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ATTACAAACGCCATATGGACG	0.463000														57			24		0	0	0.004656	0	0
OR1A1	8383	broad.mit.edu	37	17	3119431	3119431	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:3119431G>A	uc010vrc.2	+	0	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TGGCAACCAGGAAGTGGCCAA	0.488000														28			26		0	0	0.003954	0	0
RP1	6101	broad.mit.edu	37	8	55539665	55539665	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:55539665G>A	uc003xsd.1	+	3	3371	c.3223G>A	c.(3223-3225)Gaa>Aaa	p.E1075K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1075					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)			AGATCCTATAGAAGAGGAAAC	0.403000														32			16		0	0	0.003163	0	0
CUBN	8029	broad.mit.edu	37	10	17061853	17061853	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:17061853G>A	uc001ioo.3	-	27	4199	c.4147C>T	c.(4147-4149)Cag>Tag	p.Q1383*		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1383	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CACTGCATCTGAAATCCTTTC	0.473000														23			8		0	0	0.006214	0	0
BRD7	29117	broad.mit.edu	37	16	50402112	50402112	+	Silent	SNP	G	A	A	rs145220538	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:50402112G>A	uc021thx.1	-	1	307	c.147C>T	c.(145-147)ttC>ttT	p.F49F	BRD7_uc002ege.2_Silent_p.F49F	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	Homo sapiens bromodomain containing 7 (BRD7), transcript variant 2, mRNA.	49	Lys-rich.				Wnt receptor signaling pathway|cell cycle|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TTTTGTCTTCGAAGAGGCTGG	0.498000														84			21		0	0	0.002299	0	0
ALDH1B1	219	broad.mit.edu	37	9	38395964	38395964	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:38395964G>A	uc022bgy.1	+	0	219	c.219G>A	c.(217-219)cgG>cgA	p.R73R	ALDH1B1_uc004aay.3_Silent_p.R73R	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	73					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	AAGGTGACCGGGCTGATGTGG	0.632000														50			25		0	0	0.003330	0	0
SPINK5	11005	broad.mit.edu	37	5	147506638	147506639	+	Missense_Mutation	DNP	CT	TG	TG			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:147506638_147506639CT>TG	uc003lox.2	+	29	3033_3034	c.2960_2961CT>TG	c.(2959-2961)tct>tTG	p.S987L	SPINK5_uc003loy.2_Missense_Mutation_p.S1017L	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	987	Kazal-like 15.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTTCAGTTCTCTGGTAAGGA	0.386000														19			6		0	0	0.004672	0	0
NAPSB	256236	broad.mit.edu	37	19	50838438	50838438	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:50838438C>T	uc002prw.3	-	6	662	c.-114_splice	c.e6-1		NR1H2_uc002prv.4_Intron					Homo sapiens napsin B aspartic peptidase pseudogene (NAPSB), non-coding RNA.											central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						CTTCAGGGTCCCTGCAGGGGC	0.632000														22			8		0	0	0.003080	0	0
HSD17B13	345275	broad.mit.edu	37	4	88243985	88243985	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:88243985G>A	uc003hqo.2	-	0	72	c.9C>T	c.(7-9)atC>atT	p.I3I	HSD17B13_uc010ikk.2_Silent_p.I3I	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 13 (HSD17B13), transcript variant A, mRNA.	3						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TTTCTAGGATGATGTTCATGG	0.488000														4			9		0	0	0.008291	0	0
C7orf63	79846	broad.mit.edu	37	7	89938629	89938629	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:89938629G>A	uc010lep.3	+	21	2854	c.2603G>A	c.(2602-2604)cGa>cAa	p.R868Q	C7orf63_uc011khj.2_Missense_Mutation_p.R850Q|C7orf63_uc011khk.2_Missense_Mutation_p.R384Q	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA.	868							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TACCATAAACGACCACAAAAT	0.294000														70			35		0	0	0.006999	0	0
PRKCQ	5588	broad.mit.edu	37	10	6540414	6540414	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:6540414G>A	uc001iji.1	-	3	669	c.585C>T	c.(583-585)ttC>ttT	p.F195F	PRKCQ_uc001ijj.2_Silent_p.F162F|PRKCQ_uc009xim.2_Silent_p.F162F|PRKCQ_uc009xin.2_Silent_p.F126F|PRKCQ_uc010qax.2_Silent_p.F37F	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	162					T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						AGGTGGCAGTGAACTCGTGGC	0.522000														58			14		0	0	0.004990	0	0
OR4D5	219875	broad.mit.edu	37	11	123810525	123810525	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:123810525T>G	uc001pzk.1	+	0	202	c.202T>G	c.(202-204)Ttc>Gtc	p.F68V		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F68F(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CAATCTTTCTTTCCTGGACTT	0.463000														53			6		0	0	0.001984	0	0
GRIN3A	116443	broad.mit.edu	37	9	104390670	104390670	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:104390670G>A	uc004bbp.2	-	3	2967	c.2366C>T	c.(2365-2367)tCc>tTc	p.S789F	GRIN3A_uc004bbq.1_Missense_Mutation_p.S789F	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	789					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GAATCCTTGGGAAGGATGATG	0.328000														16			16		0	0	0.004990	0	0
DNAH7	56171	broad.mit.edu	37	2	196659083	196659083	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:196659083G>A	uc002utj.4	-	56	10796	c.10695C>T	c.(10693-10695)ttC>ttT	p.F3565F	DNAH7_uc002uti.4_Silent_p.F48F	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3565	AAA 6 (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						AGCTGCCAAAGAACTCCGGAT	0.463000														46			40		0	0	0.003610	0	0
CLCN6	1185	broad.mit.edu	37	1	11889376	11889376	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:11889376C>T	uc001ate.4	+	12	1358	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	CLCN6_uc009vnh.1_3'UTR|CLCN6_uc010oat.2_Silent_p.L131L|CLCN6_uc010oau.2_Silent_p.L393L	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	415					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CATTCCAGCTCCAGGTAACCC	0.483000														42			23		0	0	0.002299	0	0
THEG	51298	broad.mit.edu	37	19	375932	375932	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:375932G>A	uc002lol.3	-	0	82	c.39C>T	c.(37-39)ccC>ccT	p.P13P	THEG_uc002lom.3_Silent_p.P13P	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	13					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-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)		CCTCAGAGCTGGGCTGGTTCC	0.682000														27			4		0	0	0.000602	0	0
LY6G6F	259215	broad.mit.edu	37	6	31675540	31675540	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:31675540G>A	uc003nwb.1	+	1	358	c.358G>A	c.(358-360)Gtg>Atg	p.V120M	ABHD16A_uc011dnz.2_Intron|LY6G6F_uc003nwa.1_Missense_Mutation_p.V120M	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA.	120	Ig-like V-type.					integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						GAACTGGAGGGTGTACGACGT	0.572000														187			101		0	0	0.003610	0	0
YLPM1	56252	broad.mit.edu	37	14	75264365	75264365	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:75264365C>T	uc001xqj.4	+	4	2489	c.2365C>T	c.(2365-2367)Cgc>Tgc	p.R789C	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TGAAGGAAATCGCCCCGATGG	0.488000														6			5		0	0	0.000602	0	0
TFAP2C	7022	broad.mit.edu	37	20	55206395	55206395	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:55206395C>T	uc002xya.3	+	1	426	c.183C>T	c.(181-183)ccC>ccT	p.P61P	TFAP2C_uc010zzi.2_5'UTR	NM_003222	NP_003213	Q92754	AP2C_HUMAN	Homo sapiens transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) (TFAP2C), mRNA.	61	Gln/Pro-rich (transactivation domain).				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			CCTACTTTCCCCCTCCCTACC	0.701000														25			5		0	0	0.001168	0	0
MLL3	58508	broad.mit.edu	37	7	151849883	151849883	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:151849883G>A	uc003wla.3	-	48	12652	c.12433C>T	c.(12433-12435)Cgt>Tgt	p.R4145C	MLL3_uc003wkz.3_Missense_Mutation_p.R3263C|MLL3_uc003wkx.3_Missense_Mutation_p.R303C|MLL3_uc003wky.3_Missense_Mutation_p.R1709C	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4145					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGAGGCCCACGGAGAAGTAAA	0.522000			N		medulloblastoma									59			23		0	0	0.002780	0	0
CDC40	51362	broad.mit.edu	37	6	110533353	110533353	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:110533353T>C	uc003pua.3	+	6	806	c.745T>C	c.(745-747)Tat>Cat	p.Y249H		NM_015891	NP_056975	O60508	PRP17_HUMAN	Homo sapiens cell division cycle 40 homolog (S. cerevisiae) (CDC40), mRNA.	249					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		AATGTATGACTATCAAGGCAG	0.328000														38			16		0	0	0.004990	0	0
COL4A3	1285	broad.mit.edu	37	2	228157935	228157935	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:228157935G>A	uc002vom.2	+	37	3401	c.3239G>A	c.(3238-3240)gGa>gAa	p.G1080E	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1080	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGTGATATGGGAAAGAAAGGA	0.498000														18			8		0	0	0.003080	0	0
PSKH2	85481	broad.mit.edu	37	8	87076500	87076500	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:87076500C>T	uc011lfy.2	-	1	546	c.546G>A	c.(544-546)agG>agA	p.R182R		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	182	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GCTTTAGATTCCTATGAGTTA	0.433000														42			14		0	0	0.002450	0	0
CLDN14	23562	broad.mit.edu	37	21	37833570	37833570	+	Missense_Mutation	SNP	C	T	T	rs146755542	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:37833570C>T	uc021wja.1	-	0	424	c.424G>A	c.(424-426)Gac>Aac	p.D142N	CLDN14_uc002yvn.1_Missense_Mutation_p.D142N|CLDN14_uc002yvo.1_Missense_Mutation_p.D142N|CLDN14_uc002yvk.1_Missense_Mutation_p.D142N|CLDN14_uc002yvl.1_Missense_Mutation_p.D142N|CLDN14_uc002yvm.1_Missense_Mutation_p.D142N	NM_144492	NP_652763	O95500	CLD14_HUMAN	Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.	142					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						TGCACCACGTCGTTGGTGGTC	0.627000														52			11		0	0	0.008291	0	0
NOTCH3	4854	broad.mit.edu	37	19	15276216	15276216	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15276216G>A	uc002nan.3	-	30	5854	c.5778C>T	c.(5776-5778)atC>atT	p.I1926I		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1926					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CATGGCTGGCGATGAGCTCTT	0.582000														47			12		0	0	0.001368	0	0
TTC7B	145567	broad.mit.edu	37	14	91123621	91123621	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:91123621G>A	uc001xyp.3	-	11	1359	c.1237_splice	c.e11-1	p.S413_splice	TTC7B_uc010ats.3_Splice_Site	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	Homo sapiens tetratricopeptide repeat domain 7B (TTC7B), mRNA.	413							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GGCACGGGCAGACTTGGCAAG	0.542000														27			11		0	0	0.000978	0	0
DNAH2	146754	broad.mit.edu	37	17	7695363	7695363	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:7695363G>A	uc002giu.1	+	43	7043	c.7029G>A	c.(7027-7029)gaG>gaA	p.E2343E		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2343					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACCTCCGAGAGATCGAGGGCT	0.557000														20			15		0	0	0.004007	0	0
CNTN2	6900	broad.mit.edu	37	1	205042356	205042356	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:205042356G>A	uc001hbr.3	+	21	3274	c.3005G>A	c.(3004-3006)aGg>aAg	p.R1002K	CNTN2_uc001hbs.3_Missense_Mutation_p.R790K	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	1002	Fibronectin type-III 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACATCGTGAGGAATGGAGGT	0.562000														58			21		0	0	0.002299	0	0
PRODH2	58510	broad.mit.edu	37	19	36290948	36290948	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:36290948G>A	uc002obx.1	-	10	1621	c.1603C>T	c.(1603-1605)Ccc>Tcc	p.P535S	AK055260_uc002obw.1_5'Flank	NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	535					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCTAGTGGGGTATCCTTCGG	0.632000														16			7		0	0	0.004482	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033237	82033237	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:82033237C>T	uc002fgu.3	-	2	789	c.661G>A	c.(661-663)Gag>Aag	p.E221K		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	221					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						TGGACAAACTCAACCAGGCTC	0.537000														58			42		0	0	0.008740	0	0
IL36B	27177	broad.mit.edu	37	2	113789344	113789344	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:113789344C>T	uc002tiq.1	-	2	48	c.-56_splice	c.e2-1		IL36B_uc002tir.1_Splice_Site	NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.						immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						GGTGAGGAGGCTGTTAACAGT	0.408000														23			5		0	0	0.000602	0	0
RLBP1	6017	broad.mit.edu	37	15	89760465	89760465	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:89760465C>T	uc002bnl.3	-	4	612	c.232G>A	c.(232-234)Gag>Aag	p.E78K		NM_000326	NP_000317	P12271	RLBP1_HUMAN	Homo sapiens retinaldehyde binding protein 1 (RLBP1), mRNA.	78					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity	p.G77E(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	GCCAGCTCCTCCCCCGAGGCC	0.657000														49			10		0	0	0.000978	0	0
CST11	140880	broad.mit.edu	37	20	23433381	23433381	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:23433381G>A	uc002wtf.1	-	0	102	c.68C>T	c.(67-69)cCc>cTc	p.P23L	CST11_uc002wtg.1_Missense_Mutation_p.P23L	NM_130794	NP_570612	Q9H112	CST11_HUMAN	Homo sapiens cystatin 11 (CST11), transcript variant 1, mRNA.	23					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TGCTTGGTAGGGGAGGGCCAT	0.512000														29			17		0	0	0.004007	0	0
CHD5	26038	broad.mit.edu	37	1	6209413	6209413	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:6209413C>T	uc001amb.2	-	7	1165	c.1054G>A	c.(1054-1056)Ggt>Agt	p.G352S	CHD5_uc001amc.1_5'Flank	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	352					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ATCTCCCCACCCTGCTGGCAC	0.597000														26			20		0	0	0.010504	0	0
TTN	7273	broad.mit.edu	37	2	179642434	179642434	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179642434C>T	uc021vsy.1	-	24	4702	c.4477G>A	c.(4477-4479)Gat>Aat	p.D1493N	TTN_uc021vsz.1_Missense_Mutation_p.D1447N|TTN_uc021vta.1_Missense_Mutation_p.D1447N|TTN_uc021vtb.1_Missense_Mutation_p.D1447N|TTN_uc002unb.2_Missense_Mutation_p.D1493N|AK123298_uc002unc.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1493	Ig-like 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGCTTACCATCATGAAACCAG	0.323000														54			17		0	0	0.006122	0	0
OR2T2	401992	broad.mit.edu	37	1	248616751	248616751	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248616751C>T	uc001iek.1	+	0	653	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCTCTGTCTCCTACACGCAC	0.532000														44			19		0	0	0.008871	0	0
CSMD1	64478	broad.mit.edu	37	8	3141814	3141814	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:3141814C>T	uc022aqr.1	-	25	4395	c.4005G>A	c.(4003-4005)tgG>tgA	p.W1335*	CSMD1_uc011kwj.2_Nonsense_Mutation_p.W728*|CSMD1_uc003wqe.3_Nonsense_Mutation_p.W492*	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1336	CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCGGCCCGTCCCAGACCTTGA	0.572000											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			10		0	0	0.003163	0	0
KCNQ2	3785	broad.mit.edu	37	20	62046258	62046258	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:62046258T>C	uc002yey.1	-	12	1700	c.1523A>G	c.(1522-1524)gAa>gGa	p.E508G	KCNQ2_uc002yez.1_Missense_Mutation_p.E478G|KCNQ2_uc002yfa.1_Missense_Mutation_p.E490G|KCNQ2_uc002yfb.1_Missense_Mutation_p.E480G	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	508					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	ACACCCACCTTCTGAGTTCTG	0.662000														91			18		0	0	0.006122	0	0
ABCC8	6833	broad.mit.edu	37	11	17436059	17436059	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:17436059C>T	uc001mnc.3	-	19	2516	c.2390_splice	c.e19+1	p.R797_splice		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	797	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	p.R797L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGGCTTTTACCGTTGTTTGTT	0.582000														260			48		0	0	0.003610	0	0
SULF1	23213	broad.mit.edu	37	8	70517057	70517057	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:70517057G>A	uc003xyg.2	+	11	1828	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	SULF1_uc010lza.1_Missense_Mutation_p.E423K|SULF1_uc003xyd.2_Missense_Mutation_p.E423K|SULF1_uc003xye.2_Missense_Mutation_p.E423K|SULF1_uc003xyf.2_Missense_Mutation_p.E423K|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	423					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ACGTAAGAAGGAAGAATCCAG	0.433000														38			18		0	0	0.007413	0	0
SPARC	6678	broad.mit.edu	37	5	151045993	151045993	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:151045993C>G	uc003lui.3	-	7	768	c.663G>C	c.(661-663)gaG>gaC	p.E221D	SPARC_uc003lug.3_Missense_Mutation_p.E55D	NM_003118	NP_003109	P09486	SPRC_HUMAN	Homo sapiens secreted protein, acidic, cysteine-rich (osteonectin) (SPARC), mRNA.	221					ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding	p.E221K(1)		central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	TATAGTTCTTCTCGAAGTCCC	0.557000														47			21		0	0	0.002299	0	0
TG	7038	broad.mit.edu	37	8	133899330	133899330	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:133899330C>T	uc003ytw.3	+	8	1754	c.1713C>T	c.(1711-1713)ctC>ctT	p.L571L		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	571					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTGCTTCTCTCCTGGAGCTTC	0.438000														35			23		0	0	0.002780	0	0
ABCC4	10257	broad.mit.edu	37	13	95830019	95830019	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:95830019G>A	uc001vmd.4	-	12	1788	c.1669C>T	c.(1669-1671)Ctc>Ttc	p.L557F	ABCC4_uc010afk.3_Missense_Mutation_p.L557F|ABCC4_uc001vme.2_Missense_Mutation_p.L557F|ABCC4_uc010tih.1_Missense_Mutation_p.L482F|ABCC4_uc001vmf.2_Missense_Mutation_p.L514F|ABCC4_uc010afl.1_Missense_Mutation_p.L514F|ABCC4_uc010afm.1_Missense_Mutation_p.L570F	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	557	ABC transporter 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TCGTCCAGGAGATAGATGTCA	0.433000														15			16		0	0	0.007413	0	0
FARSB	10056	broad.mit.edu	37	2	223499232	223499232	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:223499232G>A	uc010zlq.1	-	6	579	c.544C>T	c.(544-546)Cat>Tat	p.H182Y	FARSB_uc002vne.1_Missense_Mutation_p.H162Y|FARSB_uc002vnf.1_Missense_Mutation_p.H63Y	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, beta subunit (FARSB), mRNA.	162					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|RNA binding|magnesium ion binding|phenylalanine-tRNA ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TCCAAATCATGGGTACCAATG	0.433000														30			7		0	0	0.003080	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102478443	102478443	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:102478443C>T	uc001yks.2	+	32	7014	c.6850C>T	c.(6850-6852)Ctg>Ttg	p.L2284L	DYNC1H1_uc001ykt.1_5'Flank	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2284	AAA 2 (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						CACACACGTGCTGAGAAAGTA	0.498000														61			13		0	0	0.004990	0	0
PRR23B	389151	broad.mit.edu	37	3	138739116	138739116	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:138739116C>T	uc003esy.1	-	0	653	c.388G>A	c.(388-390)Gct>Act	p.A130T		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	130										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCCTGACAGCGCCCAGGAAA	0.642000														32			13		0	0	0.001855	0	0
DOCK2	1794	broad.mit.edu	37	5	169477382	169477382	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:169477382G>A	uc003maf.3	+	40	4274	c.4194G>A	c.(4192-4194)gtG>gtA	p.V1398V	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.V890V	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1398	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGATGATGTGAAGAATGCCC	0.562000														47			12		0	0	0.001855	0	0
EPHA10	284656	broad.mit.edu	37	1	38185154	38185154	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:38185154G>A	uc009vvi.3	-	14	2774	c.2688C>T	c.(2686-2688)atC>atT	p.I896I	EPHA10_uc001cbt.3_Intron|EPHA10_uc009vvh.2_Intron|EPHA10_uc001cbu.3_Intron|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	896	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGATGCTGTGGATCTGGGAGA	0.617000														43			29		0	0	0.003271	0	0
CFH	3075	broad.mit.edu	37	1	196715117	196715117	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196715117C>T	uc001gtj.4	+	20	3721	c.3481C>T	c.(3481-3483)Cca>Tca	p.P1161S	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1161	Sushi 19.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTCAGAACCACCAAAATGCTT	0.368000														23			8		0	0	0.001855	0	0
CD163L1	283316	broad.mit.edu	37	12	7585176	7585176	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:7585176G>A	uc010sge.2	-	3	658	c.632C>T	c.(631-633)tCt>tTt	p.S211F	CD163L1_uc001qsy.3_Missense_Mutation_p.S201F	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	201	SRCR 2.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGAAATAAAAGAAGATGGACA	0.468000														14			24		0	0	0.002780	0	0
DNAH7	56171	broad.mit.edu	37	2	196681402	196681402	+	Silent	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:196681402A>G	uc002utj.4	-	50	9812	c.9711T>C	c.(9709-9711)ctT>ctC	p.L3237L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3237					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						ACAGGATGAAAAGGTTAATAA	0.328000														30			4		0	0	0.000602	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42375522	42375522	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:42375522C>T	uc001zox.3	-	7	641	c.546G>A	c.(544-546)aaG>aaA	p.K182K		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	182					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)		CCAGCTCCAGCTTGTCCTGAT	0.592000														31			16		0	0	0.006122	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215258	140215259	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140215258_140215259GG>AA	uc003lhq.2	+	0	1290_1291	c.1290_1291GG>AA	c.(1288-1293)gggggc>ggAAgc	p.G431S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.G431S	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	445	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGGACGGGGGCTCGCCTTC	0.624000														70			22		0	0	0.004672	0	0
SERPINA4	5267	broad.mit.edu	37	14	95033528	95033528	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:95033528G>A	uc010avd.3	+	2	1256	c.982G>A	c.(982-984)Gag>Aag	p.E328K	SERPINA4_uc001ydk.3_Missense_Mutation_p.E291K|SERPINA4_uc001ydl.3_Missense_Mutation_p.E291K	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	291					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GGAGATTGAAGAGGTTCTGAC	0.463000														22			7		0	0	0.001984	0	0
SCNN1G	6340	broad.mit.edu	37	16	23197607	23197607	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:23197607G>A	uc002dlm.1	+	1	154	c.15G>A	c.(13-15)gaG>gaA	p.E5E		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	5					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CACCCGGAGAGAAGATCAAAG	0.587000														25			8		0	0	0.003080	0	0
FFAR3	2865	broad.mit.edu	37	19	35862963	35862963	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:35862963C>T	uc021usn.1	+	0	707	c.702C>T	c.(700-702)ttC>ttT	p.F234F		NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	234						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGCTCAACTTCCTTGTCTGCT	0.642000														17			17		0	0	0.004990	0	0
NLRP13	126204	broad.mit.edu	37	19	56423744	56423744	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:56423744C>T	uc010ygg.2	-	4	1464	c.1439G>A	c.(1438-1440)tGg>tAg	p.W480*		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	480	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GAGGGCCCTCCATTGTCCTGG	0.488000														39			27		0	0	0.006320	0	0
COL5A1	1289	broad.mit.edu	37	9	137697046	137697046	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:137697046C>T	uc004cfe.3	+	40	3626	c.3244C>T	c.(3244-3246)Cca>Tca	p.P1082S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1082	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCCCCTGGCCCACCAGGCCC	0.597000														55			11		0	0	0.001855	0	0
ACADL	33	broad.mit.edu	37	2	211070512	211070512	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:211070512G>A	uc002vdz.4	-	5	840	c.612C>T	c.(610-612)atC>atT	p.I204I		NM_001608	NP_001599	P28330	ACADL_HUMAN	Homo sapiens acyl-CoA dehydrogenase, long chain (ACADL), nuclear gene encoding mitochondrial protein, mRNA.	204					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		ACCCATTACTGATGAACACCT	0.383000														48			25		0	0	0.007291	0	0
RASGRF2	5924	broad.mit.edu	37	5	80382676	80382676	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:80382676G>A	uc003kha.2	+	8	1344	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N	RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Missense_Mutation_p.D260N	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	432					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGAAGTCAGCGACACTGAAAA	0.468000														23			5		0	0	0.000602	0	0
KDM5B	10765	broad.mit.edu	37	1	202698951	202698951	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:202698951G>A	uc009xag.3	-	26	4605	c.4489C>T	c.(4489-4491)Cgt>Tgt	p.R1497C	KDM5B_uc001gyf.3_Missense_Mutation_p.R1461C|KDM5B_uc001gyg.1_Missense_Mutation_p.R1303C	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1461					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TCAGCAGAACGAACTAATTCA	0.468000														90			48		0	0	0.003610	0	0
LIN28B	389421	broad.mit.edu	37	6	105406086	105406086	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:105406086G>A	uc003pqv.1	+	1	326	c.123G>A	c.(121-123)atG>atA	p.M41I	LIN28B_uc010kda.1_Missense_Mutation_p.M1I	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	Homo sapiens lin-28 homolog B (C. elegans) (LIN28B), mRNA.	41	CSD.				RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|protein binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ATGTGCGCATGGGATTTGGAT	0.522000														71			44		0	0	0.009718	0	0
NDUFV1	4723	broad.mit.edu	37	11	67379641	67379641	+	Silent	SNP	C	A	A	rs145602077		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:67379641C>A	uc001omj.2	+	8	1366	c.1213C>A	c.(1213-1215)Cgg>Agg	p.R405R	NDUFV1_uc010rpv.1_Silent_p.R304R|NDUFV1_uc001omk.4_Silent_p.R396R|NDUFV1_uc001oml.2_Silent_p.R398R|NDUFV1_uc010rpw.1_Silent_p.R114R	NM_007103	NP_009034	P49821	NDUV1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa (NDUFV1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	405					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	GGGGGATGCCCGGCCGGCCGA	0.607000														93			12		1.5842e-08	1.74152e-08	0.001855	1	0
CTAGE5	4253	broad.mit.edu	37	14	39790138	39790138	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:39790138C>T	uc001wvi.4	+	18	1901	c.1565C>T	c.(1564-1566)tCc>tTc	p.S522F	CTAGE5_uc010tqe.1_Missense_Mutation_p.S479F|CTAGE5_uc001wuy.4_Missense_Mutation_p.S437F|CTAGE5_uc001wuz.4_Missense_Mutation_p.S505F|CTAGE5_uc001wva.4_Missense_Mutation_p.S488F|CTAGE5_uc001wvb.4_Intron|CTAGE5_uc001wvc.4_Intron|CTAGE5_uc001wvf.4_Missense_Mutation_p.S442F|CTAGE5_uc001wvg.4_Missense_Mutation_p.S517F|CTAGE5_uc001wvh.4_Intron|CTAGE5_uc010amz.3_Missense_Mutation_p.S133F|CTAGE5_uc001wvj.4_Missense_Mutation_p.S488F	NM_001247989	NP_001234918	O15320	CTGE5_HUMAN	Homo sapiens CTAGE family, member 5 (CTAGE5), transcript variant 6, mRNA.	517	Pro-rich.						enzyme activator activity|protein binding		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		CCAGAGCATTCCCCATATGGT	0.418000														57			34		0	0	0.006999	0	0
LMO7	4008	broad.mit.edu	37	13	76407271	76407271	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:76407271C>T	uc021rkq.1	+	15	3369	c.3034C>T	c.(3034-3036)Cct>Tct	p.P1012S	LMO7_uc010thv.2_Missense_Mutation_p.P730S|LMO7_uc001vjt.1_Missense_Mutation_p.P678S|LMO7_uc001vjv.3_Missense_Mutation_p.P779S|LMO7_uc010thw.2_Missense_Mutation_p.P629S|LMO7_uc001vjw.1_Missense_Mutation_p.P685S	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1064						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)		ATGGGATATTCCTGGGATCTT	0.403000														25			4		0	0	0.001168	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39421083	39421083	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:39421083C>T	uc003awt.4	+	2	626	c.219C>T	c.(217-219)ttC>ttT	p.F73F	APOBEC3D_uc021wpq.1_Silent_p.F73F|APOBEC3D_uc010gxu.3_Intron|APOBEC3D_uc003awu.4_Intron	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (APOBEC3D), mRNA.	73					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					AGGTGTATTTCCGGTTTGAGA	0.602000														15			6		0	0	0.001168	0	0
LYNX1	66004	broad.mit.edu	37	8	143846075	143846075	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:143846075C>T	uc003yxb.3	-	4	972	c.344G>A	c.(343-345)gGc>gAc	p.G115D	LYNX1_uc003yxa.3_Missense_Mutation_p.G81D	NM_023946	NP_076435	Q86SR0	SLUR2_HUMAN	Homo sapiens Ly6/neurotoxin 1 (LYNX1), transcript variant 1, mRNA.	81						extracellular region				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TACGTAGGGGCCCAGGCCCAG	0.652000														49			28		0	0	0.006320	0	0
C1orf129	80133	broad.mit.edu	37	1	170967413	170967413	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:170967413G>A	uc010plz.2	+	14	1748	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	C1orf129_uc001ghg.3_Missense_Mutation_p.E532K|C1orf129_uc009wvy.3_Missense_Mutation_p.E339K	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	532							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTCCTCACTGAAGTGAGTTT	0.398000														49			26		0	0	0.006320	0	0
IMPDH2	3615	broad.mit.edu	37	3	49065936	49065936	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:49065936G>A	uc003cvt.3	-	2	269	c.177C>T	c.(175-177)atC>atT	p.I59I		NM_000884	NP_000875	P12268	IMDH2_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2), mRNA.	59					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	TCTTAAGAGTGATTTTCTTGG	0.547000														56			8		0	0	0.004482	0	0
CREB3L3	84699	broad.mit.edu	37	19	4157233	4157233	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:4157233C>T	uc002lzl.3	+	2	514	c.398C>T	c.(397-399)tCc>tTc	p.S133F	CREB3L3_uc002lzm.3_Missense_Mutation_p.S123F|CREB3L3_uc010xib.2_Missense_Mutation_p.S124F|CREB3L3_uc010xic.2_Missense_Mutation_p.S124F	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	133					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AACTCTTGCTCCACCACAACC	0.642000														64			23		0	0	0.003954	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37462263	37462263	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:37462263G>A	uc003aqt.1	-	18	2394	c.2332C>T	c.(2332-2334)Ccg>Tcg	p.P778S	TMPRSS6_uc003aqs.1_Missense_Mutation_p.P765S	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	765	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CACACCAGCGGACCACCTGAG	0.617000														12			8		0	0	0.003080	0	0
MYH2	4620	broad.mit.edu	37	17	10440619	10440619	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10440619C>T	uc010coi.3	-	15	1956	c.1828G>A	c.(1828-1830)Gga>Aga	p.G610R	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.G610R|MYH2_uc010coj.3_Missense_Mutation_p.G610R	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	610	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.V609F(1)		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						TGGTACAGTCCAACCACGGTC	0.483000														59			55		0	0	0.003610	0	0
CGB8	94115	broad.mit.edu	37	19	49557627	49557627	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:49557627G>A	uc002pmd.3	-	2	1639	c.419C>T	c.(418-420)tCc>tTc	p.S140F	CGB8_uc002pmc.3_Intron|CGB8_uc002pme.3_Missense_Mutation_p.S140F	NM_033142	NP_149133	P01233	CGHB_HUMAN	Homo sapiens chorionic gonadotropin, beta polypeptide 7 (CGB7), mRNA.	140					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			pancreas(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	GGCCTTTGAGGAAGAGGAGGC	0.632000														80			19		0	0	0.003954	0	0
LYN	4067	broad.mit.edu	37	8	56912099	56912099	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:56912099C>T	uc003xsk.4	+	11	1609	c.1327C>T	c.(1327-1329)Ccc>Tcc	p.P443S	LYN_uc003xsl.4_Missense_Mutation_p.P422S	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	443	Protein kinase.				T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus	Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TGGGAAAATTCCCTACCCAGG	0.373000														49			9		0	0	0.001368	0	0
FOXJ2	55810	broad.mit.edu	37	12	8196551	8196551	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:8196551C>T	uc001qtu.3	+	4	1567	c.482C>T	c.(481-483)tCc>tTc	p.S161F	FOXJ2_uc001qtt.1_Missense_Mutation_p.S161F	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	161					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CCTCAGCTGTCCCAAGACTCA	0.542000														15			44		0	0	0.002852	0	0
NUP210	23225	broad.mit.edu	37	3	13381426	13381426	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:13381426G>A	uc003bxv.1	-	24	3482	c.3399C>T	c.(3397-3399)atC>atT	p.I1133I		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1133					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGCCGTTCCCGATGGCGAGGC	0.622000														134			29		0	0	0.002096	0	0
SULF2	55959	broad.mit.edu	37	20	46365584	46365584	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:46365584G>A	uc002xto.3	-	2	608	c.278C>T	c.(277-279)tCc>tTc	p.S93F	SULF2_uc002xtr.3_Missense_Mutation_p.S93F|SULF2_uc002xtq.3_Missense_Mutation_p.S93F|SULF2_uc010ghv.1_Missense_Mutation_p.S93F	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	93					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GAGGATGGAGGAGCGTGAGGG	0.607000														27			13		0	0	0.001855	0	0
RELN	5649	broad.mit.edu	37	7	103290744	103290744	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:103290744C>T	uc022ajr.1	-	15	2139	c.1979G>A	c.(1978-1980)gGa>gAa	p.G660E	RELN_uc022ajq.1_Missense_Mutation_p.G660E|RELN_uc010liz.3_Missense_Mutation_p.G660E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	660					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCACATGTTTCCAAGGATTGG	0.443000														57			27		0	0	0.008361	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43895992	43895992	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:43895992G>A	uc010skx.2	-	3	830	c.830C>T	c.(829-831)tCg>tTg	p.S277L		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	277	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTGCAAATTCGATCCATGAGC	0.289000														8			13		0	0	0.001855	0	0
XRRA1	143570	broad.mit.edu	37	11	74563124	74563124	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:74563124C>T	uc009yub.3	-	12	1482	c.1150G>A	c.(1150-1152)Gca>Aca	p.A384T	XRRA1_uc001ovm.2_Non-coding_Transcript|XRRA1_uc001ovn.3_Missense_Mutation_p.A7T|XRRA1_uc001ovo.3_Missense_Mutation_p.A7T|XRRA1_uc001ovp.4_Missense_Mutation_p.A109T|XRRA1_uc001ovq.4_Intron|XRRA1_uc001ovr.2_Missense_Mutation_p.A7T|XRRA1_uc001ovs.1_Intron	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	Homo sapiens X-ray radiation resistance associated 1 (XRRA1), mRNA.	384					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TCCTCTTTTGCGATCTGTAAT	0.527000														62			10		0	0	0.006214	0	0
SLC22A14	9389	broad.mit.edu	37	3	38348031	38348031	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38348031G>A	uc003cib.2	+	0	587	c.514G>A	c.(514-516)Gag>Aag	p.E172K	SLC22A14_uc010hhc.1_Missense_Mutation_p.E172K|SLC22A14_uc003cia.2_Missense_Mutation_p.E172K|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	172						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GCTGATCAATGAGGTATGTCT	0.498000														53			30		0	0	0.002445	0	0
ACTL6B	51412	broad.mit.edu	37	7	100240948	100240948	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100240948C>T	uc003uvy.3	-	14	1308	c.1201_splice	c.e14-1	p.G401_splice	TFR2_uc003uvv.1_5'Flank|TFR2_uc003uvw.1_5'Flank|ACTL6B_uc003uvz.3_Splice_Site	NM_016188	NP_057272	O94805	ACL6B_HUMAN	Homo sapiens actin-like 6B (ACTL6B), mRNA.	401					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	SWI/SNF complex|nBAF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTGGAAAGTGCCCTGGGTGGA	0.622000														31			18		0	0	0.008871	0	0
LRP4	4038	broad.mit.edu	37	11	46897410	46897410	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:46897410C>T	uc001ndn.4	-	25	3887	c.3644G>A	c.(3643-3645)gGa>gAa	p.G1215E		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1215					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CACAGTCAGTCCATTGGGCCA	0.602000														27			11		0	0	0.000978	0	0
FAM73B	84895	broad.mit.edu	37	9	131802941	131802941	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:131802941C>T	uc004bxa.3	+	1	254	c.68C>T	c.(67-69)cCc>cTc	p.P23L	FAM73B_uc004bwy.3_Non-coding_Transcript|FAM73B_uc004bwz.3_Non-coding_Transcript|FAM73B_uc011mbn.1_Missense_Mutation_p.P23L	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	Homo sapiens family with sequence similarity 73, member B (FAM73B), mRNA.	23						integral to membrane		p.I22I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						GCCGAGATCCCCGTGTTCCTG	0.612000														55			8		0	0	0.001368	0	0
MLL3	58508	broad.mit.edu	37	7	151884809	151884809	+	Missense_Mutation	SNP	G	A	A	rs149660967		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:151884809G>A	uc003wla.3	-	31	5003	c.4784C>T	c.(4783-4785)cCt>cTt	p.P1595L	MLL3_uc003wkz.3_Missense_Mutation_p.P656L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1595					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CCTGGCATCAGGATAAGAGGA	0.373000			N		medulloblastoma									30			13		0	0	0.001855	0	0
PLCG2	5336	broad.mit.edu	37	16	81819622	81819622	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:81819622C>T	uc002fgt.3	+	1	206	c.28C>T	c.(28-30)Ctt>Ttt	p.L10F	PLCG2_uc010chg.1_Missense_Mutation_p.L10F	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	10					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.L10I(3)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGTAGATTCCCTTGCGGAATA	0.542000														64			19		0	0	0.001882	0	0
COL4A4	1286	broad.mit.edu	37	2	227907822	227907822	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:227907822G>A	uc021vxr.1	-	34	3469	c.3368C>T	c.(3367-3369)cCt>cTt	p.P1123L	COL4A4_uc021vxs.1_Missense_Mutation_p.P1123L	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1123	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)		AGAGGAGCCAGGTGGCCCTGG	0.542000														23			13		0	0	0.003163	0	0
TMEM39A	55254	broad.mit.edu	37	3	119156934	119156934	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:119156934G>A	uc003eck.1	-	5	955	c.592C>T	c.(592-594)Cct>Tct	p.P198S	TMEM39A_uc003ecl.1_Missense_Mutation_p.P46S	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	Homo sapiens transmembrane protein 39A (TMEM39A), mRNA.	198						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		CAGCAAAGAGGAACATAAACA	0.383000														22			5		0	0	0.000602	0	0
EXOC4	60412	broad.mit.edu	37	7	132959761	132959761	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:132959761C>T	uc003vrk.3	+	1	146	c.111C>T	c.(109-111)gtC>gtT	p.V37V	EXOC4_uc011kpo.2_5'UTR|EXOC4_uc003vri.3_Silent_p.V37V|EXOC4_uc003vrj.3_Silent_p.V37V	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	37					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTGACGATGTCGAAGACAGGG	0.418000														30			20		0	0	0.002780	0	0
SLC25A2	83884	broad.mit.edu	37	5	140682711	140682711	+	Missense_Mutation	SNP	G	A	A	rs146929069	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140682711G>A	uc003ljf.3	-	0	902	c.722C>T	c.(721-723)tCc>tTc	p.S241F		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	241					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CCCATACATGGAAAGAACTTG	0.413000														40			7		0	0	0.001984	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110461427	110461427	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:110461427C>T	uc001pkz.1	-	11	1535	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	ARHGAP20_uc001pky.1_Missense_Mutation_p.G394E|ARHGAP20_uc009yyb.1_Missense_Mutation_p.G381E|ARHGAP20_uc001pla.1_Missense_Mutation_p.G381E|ARHGAP20_uc001plb.2_5'Flank	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	417	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TACTTCGACTCCAGAATTCAA	0.393000														19			11		0	0	0.001368	0	0
PCSK5	5125	broad.mit.edu	37	9	78936388	78936388	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:78936388G>A	uc004akc.2	+	29	4392	c.3854G>A	c.(3853-3855)aGa>aAa	p.R1285K		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	694					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCTCCTTGCAGAACATGTGAA	0.557000														44			22		0	0	0.002780	0	0
GRAMD2	196996	broad.mit.edu	37	15	72455780	72455780	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:72455780C>T	uc002atq.3	-	9	807	c.783G>A	c.(781-783)ggG>ggA	p.G261G	GRAMD2_uc010bis.2_Silent_p.G261G|GRAMD2_uc010ukh.2_Silent_p.G55G	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA.	261						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						ATGCCCACCTCCCACCATTTT	0.527000														104			10		0	0	0.001855	0	0
GGT1	2678	broad.mit.edu	37	22	25010854	25010854	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:25010854C>T	uc003aan.1	+	5	763	c.276C>T	c.(274-276)acC>acT	p.T92T	GGT1_uc003aas.1_Silent_p.T92T|GGT1_uc003aat.1_Silent_p.T92T|GGT1_uc003aau.2_Silent_p.T92T|GGT1_uc003aav.2_Silent_p.T92T|GGT1_uc003aaw.2_Silent_p.T92T|GGT1_uc003aax.2_Silent_p.T92T	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	92					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TCTTCCTCACCATCTACAACA	0.657000														43			12		0	0	0.002450	0	0
STC1	6781	broad.mit.edu	37	8	23702352	23702352	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:23702352G>A	uc003xdw.1	-	3	959	c.675C>T	c.(673-675)ctC>ctT	p.L225L		NM_003155	NP_003146	P52823	STC1_HUMAN	Homo sapiens stanniocalcin 1 (STC1), mRNA.	225					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GGTTCCTGAGGAGGACTTTCA	0.547000														39			17		0	0	0.007413	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145773399	145773399	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:145773399G>A	uc003zds.1	-	5	1626	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	ARHGAP39_uc011llk.1_Silent_p.L357L|ARHGAP39_uc003zdt.1_Silent_p.L357L	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	357	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TGTTGGGCTGGAGGAACGGCC	0.697000														18			8		0	0	0.003080	0	0
ZNF214	7761	broad.mit.edu	37	11	7022616	7022616	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:7022616G>A	uc009yfh.1	-	2	597	c.298C>T	c.(298-300)Cgt>Tgt	p.R100C	ZNF214_uc001mfa.2_Missense_Mutation_p.R100C|ZNF214_uc010ray.1_Missense_Mutation_p.R100C	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	Homo sapiens zinc finger protein 214 (ZNF214), mRNA.	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		CACTGGGAACGATCTTGCTGT	0.453000														252			144		0	0	0.003610	0	0
STAB2	55576	broad.mit.edu	37	12	104031985	104031985	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:104031985G>A	uc001tjw.3	+	7	1087	c.901G>A	c.(901-903)Gga>Aga	p.G301R		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	301					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGATGGGCCTGGACAGGTGAG	0.473000														9			14		0	0	0.004007	0	0
C1orf173	127254	broad.mit.edu	37	1	75072435	75072435	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:75072435C>T	uc001dgg.3	-	9	1558	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.E241K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	447	Glu-rich.									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						GTTTTGTTCTCCTTGATCTCA	0.403000														88			47		0	0	0.003610	0	0
FAT2	2196	broad.mit.edu	37	5	150889622	150889622	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:150889622C>T	uc003lue.4	-	20	12032	c.12019G>A	c.(12019-12021)Gga>Aga	p.G4007R	FAT2_uc003lud.4_Missense_Mutation_p.G614R	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	4007	EGF-like 2.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGAAGCTCCTTTGGGGGAG	0.542000														101			18		0	0	0.006122	0	0
GAB4	128954	broad.mit.edu	37	22	17445659	17445659	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:17445659G>A	uc002zlw.3	-	7	1581	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F		NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	491										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GACTCACCGGGAAAAGATACC	0.562000														25			12		0	0	0.000978	0	0
HTR7	3363	broad.mit.edu	37	10	92509065	92509065	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:92509065G>A	uc001kha.3	-	1	1069	c.826C>T	c.(826-828)Cct>Tct	p.P276S	HTR7_uc001kgz.3_Missense_Mutation_p.P276S|HTR7_uc001khb.3_Missense_Mutation_p.P276S	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	276					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GGGAAGCCAGGAAACTTGTGT	0.512000														25			7		0	0	0.003080	0	0
EDEM1	9695	broad.mit.edu	37	3	5241372	5241372	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:5241372C>T	uc003bqi.3	+	2	810	c.678C>T	c.(676-678)gcC>gcT	p.A226A	EDEM1_uc011asz.1_Intron|EDEM1_uc021wsl.1_Silent_p.A31A	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 1 (EDEM1), mRNA.	226					ER-associated protein catabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCTTTGAGGCCACGATAAGGT	0.343000														22			10		0	0	0.006214	0	0
ZNF334	55713	broad.mit.edu	37	20	45131444	45131444	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:45131444C>T	uc002xsa.3	-	3	1065	c.603G>A	c.(601-603)atG>atA	p.M201I	ZNF334_uc002xsb.3_Missense_Mutation_p.M140I|ZNF334_uc002xsd.3_Missense_Mutation_p.M140I|ZNF334_uc002xsc.3_Missense_Mutation_p.M178I|ZNF334_uc010ghl.3_Missense_Mutation_p.M177I			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGTATTTTTTCATTCCCAAAT	0.343000														40			24		0	0	0.002780	0	0
CASR	846	broad.mit.edu	37	3	122003444	122003444	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:122003444C>T	uc003eew.4	+	6	3111	c.2673C>T	c.(2671-2673)ttC>ttT	p.F891F	CASR_uc003eev.4_Silent_p.F881F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	881	Interaction with RNF19A.				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.R891P(1)|p.R890R(1)|p.R891L(1)|p.R891G(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTCACGCTTTCAAGGTGGCTG	0.617000														10			9		0	0	0.008291	0	0
ASXL2	55252	broad.mit.edu	37	2	25965600	25965600	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:25965600G>A	uc002rgs.2	-	11	3827	c.3606C>T	c.(3604-3606)tcC>tcT	p.S1202S	ASXL2_uc002rgt.1_Silent_p.S685S	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	1202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCACTCTGGGAAACCTGGG	0.493000														53			22		0	0	0.001882	0	0
DNAH5	1767	broad.mit.edu	37	5	13817700	13817700	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:13817700C>T	uc003jfd.2	-	41	6987	c.6945G>A	c.(6943-6945)ggG>ggA	p.G2315G		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2315	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TAGAAAATATCCCATCAGTCC	0.403000									Kartagener syndrome					29			14		0	0	0.001855	0	0
CDH5	1003	broad.mit.edu	37	16	66423412	66423412	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:66423412C>T	uc002eom.4	+	4	924	c.768C>T	c.(766-768)ccC>ccT	p.P256P	CDH5_uc002eon.1_Silent_p.P256P	NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	256	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		ACAACTTCCCCTTCTTCACCC	0.607000														35			12		0	0	0.002450	0	0
OR5K2	402135	broad.mit.edu	37	3	98217208	98217208	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:98217208G>A	uc011bgx.2	+	0	684	c.684G>A	c.(682-684)atG>atA	p.M228I		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 2 (OR5K2), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTTTCAGAATGAAATCCAAGG	0.343000														32			19		0	0	0.007413	0	0
ELAVL2	1993	broad.mit.edu	37	9	23704986	23704986	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:23704986C>T	uc003zpu.3	-	3	692	c.417G>A	c.(415-417)aaG>aaA	p.K139K	ELAVL2_uc003zps.3_Silent_p.K139K|ELAVL2_uc003zpt.3_Silent_p.K139K|ELAVL2_uc003zpv.3_Silent_p.K139K|ELAVL2_uc003zpw.3_Silent_p.K139K	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.	139	RRM 2.				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)		GTTCCAACTCCTTCTGGGTCA	0.423000														55			31		0	0	0.008361	0	0
ABCG4	64137	broad.mit.edu	37	11	119020882	119020882	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:119020882C>T	uc001pvs.3	+	1	543	c.207C>T	c.(205-207)tcC>tcT	p.S69S	ABCG4_uc009zar.3_Silent_p.S69S	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	69	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)		TGTCCTATTCCGTGCGGGAGG	0.617000														69			52		0	0	0.003610	0	0
OTX2	5015	broad.mit.edu	37	14	57268766	57268766	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:57268766C>T	uc001xcq.3	-	4	855	c.581G>A	c.(580-582)aGt>aAt	p.S194N	OTX2_uc001xcp.3_Missense_Mutation_p.S186N|OTX2_uc021rtm.1_Missense_Mutation_p.S16N|OTX2_uc010aou.3_Missense_Mutation_p.S186N	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	186					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ATATCCTTGACTATAACCTGA	0.537000														30			28		0	0	0.005443	0	0
INTS4	92105	broad.mit.edu	37	11	77594888	77594889	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:77594888_77594889GG>AA	uc001oys.3	-	21	2730_2731	c.2702_2703CC>TT	c.(2701-2703)acc>aTT	p.T901I	C11orf67_uc001oyp.3_Intron|C11orf67_uc001oyr.1_Intron|INTS4_uc001oyt.3_Non-coding_Transcript	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Homo sapiens integrator complex subunit 4 (INTS4), mRNA.	901				HT -> PP (in Ref. 1; AAQ13616).	snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CTGTCCAAGCGGTGTGGGAGAG	0.530000														8			8		0	0	0.004672	0	0
AKAP8L	26993	broad.mit.edu	37	19	15512189	15512189	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15512189G>A	uc002naw.1	-	4	687	c.588C>T	c.(586-588)ggC>ggT	p.G196G	AKAP8L_uc002nax.1_Non-coding_Transcript|AKAP8L_uc010xoh.1_Silent_p.G135G|AKAP8L_uc002nay.1_Silent_p.G196G|AKAP8L_uc002naz.3_Silent_p.G44G	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8-like (AKAP8L), mRNA.	196						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCGCCCATAGCCTGAGGCCA	0.687000														36			20		0	0	0.008871	0	0
TBCK	93627	broad.mit.edu	37	4	107092295	107092295	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:107092295G>A	uc010ilv.2	-	22	2557	c.2192C>T	c.(2191-2193)cCt>cTt	p.P731L	TBCK_uc003hyb.2_Missense_Mutation_p.P474L|TBCK_uc003hye.2_Missense_Mutation_p.P692L|TBCK_uc003hyc.2_Missense_Mutation_p.P668L|TBCK_uc003hyd.2_Missense_Mutation_p.P559L|TBCK_uc003hyf.2_Missense_Mutation_p.P731L	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	731						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						AGAGAAATAAGGTGCCGAACT	0.418000														27			23		0	0	0.003330	0	0
ICA1L	130026	broad.mit.edu	37	2	203680719	203680719	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:203680719C>T	uc002uzh.1	-	7	862	c.698G>A	c.(697-699)gGa>gAa	p.G233E	ICA1L_uc002uzi.1_Missense_Mutation_p.G233E|ICA1L_uc021vvi.1_Non-coding_Transcript	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA.	233	AH.									breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTCCAGAATCCAAGCAGTGT	0.388000														178			55		0	0	0.003610	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798242	148798242	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:148798242G>A	uc004fdq.3	+	4	1251	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	MAGEA11_uc004fdr.3_Missense_Mutation_p.E337K	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	366	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TTGGGTGCAGGAAAAGTACCT	0.557000														42			70		0	0	0.003610	0	0
PRPF8	10594	broad.mit.edu	37	17	1579318	1579318	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:1579318C>T	uc002fte.3	-	17	2697	c.2583G>A	c.(2581-2583)agG>agA	p.R861R		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	861						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CTAGCTCCTCCCTCTGAGACT	0.537000														15			7		0	0	0.001984	0	0
MLC1	23209	broad.mit.edu	37	22	50500075	50500075	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:50500075G>A	uc003bjg.1	-	11	1344	c.1071C>T	c.(1069-1071)agC>agT	p.S357S	MLC1_uc011arl.1_Silent_p.S305S|MLC1_uc003bjh.1_Silent_p.S357S|MLC1_uc011arm.1_Silent_p.S327S|MLC1_uc011arn.1_Silent_p.S278S|MLC1_uc011aro.1_Silent_p.S323S	NM_139202	NP_631941	Q15049	MLC1_HUMAN	Homo sapiens megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1), transcript variant 2, mRNA.	357						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CCTTCAGGGGGCTCCTGGCCA	0.652000														31			21		0	0	0.001882	0	0
CALB2	794	broad.mit.edu	37	16	71423714	71423714	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:71423714G>A	uc002faa.4	+	10	842	c.762G>A	c.(760-762)ggG>ggA	p.G254G	CALB2_uc010vme.2_Non-coding_Transcript|CALB2_uc002fac.4_3'UTR	NM_001740	NP_001731	P22676	CALB2_HUMAN	Homo sapiens calbindin 2 (CALB2), transcript variant CALB2, mRNA.	254	EF-hand 6.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				CAGAGGCAGGGAAGCTCTACC	0.552000														105			20		0	0	0.010504	0	0
OSBPL3	26031	broad.mit.edu	37	7	24854706	24854706	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:24854706G>A	uc003sxf.3	-	18	2549	c.2144C>T	c.(2143-2145)tCc>tTc	p.S715F	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Missense_Mutation_p.S679F|OSBPL3_uc003sxh.3_Missense_Mutation_p.S684F|OSBPL3_uc003sxi.3_Missense_Mutation_p.S648F	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	715					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GCAGTAGCAGGAATCATCATG	0.502000														142			73		0	0	0.003610	0	0
OR7G3	390883	broad.mit.edu	37	19	9236968	9236968	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9236968C>T	uc010xkl.2	-	0	659	c.659G>A	c.(658-660)cGa>cAa	p.R220Q		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GGAGACAATTCGTGTGTAAGA	0.423000														85			34		0	0	0.002445	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716900	142716900	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:142716900G>A	uc022cfm.1	-	0	2025	c.2025C>T	c.(2023-2025)acC>acT	p.T675T	SLITRK4_uc022cfl.1_Silent_p.T675T|SLITRK4_uc004fbx.3_Silent_p.T675T|SLITRK4_uc004fby.3_Silent_p.T675T	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	675						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTTTTATTGGTTTTGTGGT	0.483000														23			52		0	0	0.003610	0	0
CLK2	1196	broad.mit.edu	37	1	155233748	155233748	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:155233748G>A	uc001fjy.3	-	11	1600	c.1310C>T	c.(1309-1311)cCg>cTg	p.P437L	SCAMP3_uc001fjs.3_5'Flank|SCAMP3_uc001fjt.3_5'Flank|CLK2_uc001fjw.3_Missense_Mutation_p.P436L|CLK2_uc001fjx.3_Missense_Mutation_p.P209L|CLK2_uc009wqm.3_Missense_Mutation_p.P437L	NM_003993	NP_003984	P49760	CLK2_HUMAN	Homo sapiens CDC-like kinase 2 (CLK2), mRNA.	437	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CACCCGCAGCGGTTTGCAGTT	0.542000								Other conserved DNA damage response genes						67			46		0	0	0.003610	0	0
ERVFRD-1	405754	broad.mit.edu	37	6	11104936	11104936	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:11104936C>T	uc003mzt.3	-	1	1090	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	C6orf228_uc011dio.2_Intron|ERVFRD-1_uc021ylp.1_Missense_Mutation_p.R203Q	NM_207582	NP_997465	P60508	EFRD1_HUMAN	Homo sapiens endogenous retrovirus group FRD, member 1 (ERVFRD-1), mRNA.	203						integral to membrane|plasma membrane|virion		p.R203Q(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						CCAGAAGTTTCGAGTACTGCA	0.463000														77			35		0	0	0.003755	0	0
SYNE1	23345	broad.mit.edu	37	6	152823854	152823854	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:152823854C>T	uc021zhb.1	-	7	1025	c.802G>A	c.(802-804)Gag>Aag	p.E268K	SYNE1_uc003qot.4_Missense_Mutation_p.E275K|SYNE1_uc003qou.4_Missense_Mutation_p.E268K|SYNE1_uc010kjb.1_Missense_Mutation_p.E268K|SYNE1_uc003qpa.1_Missense_Mutation_p.E268K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	268	Actin-binding.|CH 2.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.E268D(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATAGATTTCTCATCTGGTTTA	0.348000										HNSCC(10;0.0054)				23			16		0	0	0.006122	0	0
MAGEB6	158809	broad.mit.edu	37	X	26213001	26213001	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:26213001G>A	uc022buc.1	+	0	1038	c.1038G>A	c.(1036-1038)caG>caA	p.Q346Q	MAGEB6_uc004dbr.3_Silent_p.Q346Q	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	346	MAGE.							p.R345W(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TTTACCGGCAGGTGTGCAACA	0.493000														17			42		0	0	0.003610	0	0
LRRC7	57554	broad.mit.edu	37	1	70493873	70493873	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	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														50			23		0	0	0.003330	0	0
TCF23	150921	broad.mit.edu	37	2	27373152	27373152	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:27373152C>T	uc010ylg.2	+	1	441	c.384C>T	c.(382-384)ctC>ctT	p.L128L		NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN	Homo sapiens transcription factor 23 (TCF23), mRNA.	128	Helix-loop-helix motif.				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGCCCACCTCACCCGCACAC	0.657000														138			29		0	0	0.008361	0	0
C14orf37	145407	broad.mit.edu	37	14	58598337	58598337	+	Missense_Mutation	SNP	G	A	A	rs145807752		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:58598337G>A	uc010tro.2	-	4	2036	c.1838C>T	c.(1837-1839)cCt>cTt	p.P613L	C14orf37_uc001xdc.3_Missense_Mutation_p.P575L|C14orf37_uc001xdd.3_Missense_Mutation_p.P575L|C14orf37_uc001xde.3_Missense_Mutation_p.P575L	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	575	Glu-rich.		Q -> E (in dbSNP:rs2273442).			integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						AGGAAGTGCAGGGGAAATGCT	0.498000														34			31		0	0	0.008361	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43862502	43862502	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:43862502G>A	uc010skx.2	-	7	1124	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	375	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding	p.S375L(3)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACCTAAATATGATAAACCTGA	0.308000														18			30		0	0	0.003271	0	0
HTR7	3363	broad.mit.edu	37	10	92508859	92508859	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:92508859G>A	uc001kha.3	-	1	1275	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	HTR7_uc001kgz.3_Silent_p.F344F|HTR7_uc001khb.3_Silent_p.F344F	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	344					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TCGAGAGGAGGAAAAATGGCA	0.532000														19			8		0	0	0.003080	0	0
SLC1A1	6505	broad.mit.edu	37	9	4566058	4566058	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:4566058C>T	uc003zij.2	+	4	705	c.452C>T	c.(451-453)cCt>cTt	p.P151L	SPATA6L_uc003zik.3_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	Homo sapiens solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 (SLC1A1), mRNA.	151					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	AATATGTTCCCTGAGAATCTT	0.328000														69			11		0	0	0.001855	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73315857	73315857	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:73315857G>A	uc002siu.4	-	2	1130	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S	RAB11FIP5_uc002sit.4_Missense_Mutation_p.P219S	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	297					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						AACAGCTTGGGGGACTGTGCA	0.612000														5			10		0	0	0.006214	0	0
NNMT	4837	broad.mit.edu	37	11	114168875	114168875	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:114168875G>A	uc001por.1	+	3	621	c.357G>A	c.(355-357)ggG>ggA	p.G119G	NNMT_uc001pos.1_Silent_p.G119G	NM_006169	NP_006160	P40261	NNMT_HUMAN	Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	119					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)	ATCTTGAAGGGAACAGGTAGA	0.488000														35			8		0	0	0.003080	0	0
ZNF622	90441	broad.mit.edu	37	5	16453243	16453243	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:16453243G>A	uc003jfq.3	-	4	1305	c.1185C>T	c.(1183-1185)tcC>tcT	p.S395S		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	Homo sapiens zinc finger protein 622 (ZNF622), mRNA.	395						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ATCTCATCAAGGAGCGATGAC	0.478000														48			12		0	0	0.000978	0	0
GRM3	2913	broad.mit.edu	37	7	86468417	86468417	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:86468417G>A	uc003uid.3	+	3	2686	c.1587G>A	c.(1585-1587)tgG>tgA	p.W529*	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Nonsense_Mutation_p.W401*|GRM3_uc010leh.3_Nonsense_Mutation_p.W121*	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	529					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCTGCTGCTGGATTTGCATCC	0.542000														60			21		0	0	0.001882	0	0
P2RY2	5029	broad.mit.edu	37	11	72945458	72945458	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:72945458C>T	uc021qna.1	+	0	254	c.254C>T	c.(253-255)tCc>tTc	p.S85F	P2RY2_uc001otk.3_Missense_Mutation_p.S85F|P2RY2_uc001otj.3_Missense_Mutation_p.S85F|P2RY2_uc001otl.3_Missense_Mutation_p.S85F	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	85					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TATGCGGCCTCCCTGCCGCTG	0.587000														47			5		0	0	0.000602	0	0
TRIM54	57159	broad.mit.edu	37	2	27528634	27528634	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:27528634G>A	uc002rjo.3	+	4	1095	c.792G>A	c.(790-792)gtG>gtA	p.V264V	TRIM54_uc002rjn.3_Silent_p.V306V	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	Homo sapiens tripartite motif containing 54 (TRIM54), transcript variant 2, mRNA.	264					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTAAGCTGGTGGAGTCTGCCA	0.647000														7			3		0	0	0.000602	0	0
MAP1B	4131	broad.mit.edu	37	5	71411610	71411610	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:71411610C>G	uc003kbw.4	+	1	511	c.270C>G	c.(268-270)ttC>ttG	p.F90L	MAP1B_uc010iyw.1_Missense_Mutation_p.F90L|MAP1B_uc010iyx.1_5'UTR	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	90						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTGCAAGATTCTCTCCTGAAG	0.468000														28			14		0	0	0.001855	0	0
MYOT	9499	broad.mit.edu	37	5	137217680	137217680	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:137217680G>A	uc011cye.2	+	5	719	c.702G>A	c.(700-702)agG>agA	p.R234R	MYOT_uc003lbv.3_Silent_p.R234R|MYOT_uc011cyg.2_Silent_p.R50R|MYOT_uc011cyh.2_Silent_p.R119R	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	Homo sapiens myotilin (MYOT), transcript variant 2, mRNA.	234	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAACCTCAAGGGGAGATGTGA	0.363000														20			11		0	0	0.001368	0	0
GLB1L2	89944	broad.mit.edu	37	11	134214955	134214955	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:134214955C>T	uc001qhp.3	+	3	569	c.381C>T	c.(379-381)atC>atT	p.I127I	GLB1L2_uc009zdg.1_5'Flank	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	127					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CCGCAGAGATCGGGCTGTGGG	0.662000														25			7		0	0	0.003080	0	0
NEB	4703	broad.mit.edu	37	2	152553214	152553214	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:152553214G>A	uc021vrb.1	-	14	1535	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	NEB_uc002txu.3_Silent_p.F502F|NEB_uc021vrc.1_Silent_p.F502F|NEB_uc010fnx.3_Silent_p.F502F|NEB_uc021vrd.1_Silent_p.F502F|NEB_uc010fny.2_Silent_p.F56F	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	502					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)		TAACTTGGGTGAATTTTGTCT	0.458000														36			5		0	0	0.000602	0	0
HDC	3067	broad.mit.edu	37	15	50545818	50545818	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:50545818G>A	uc001zxz.3	-	6	1108	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	HDC_uc001zxy.3_5'Flank|HDC_uc010uff.2_Silent_p.L256L|HDC_uc010bet.2_Silent_p.L177L	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	256					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.L256L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AGCTCTGACAGGCAGTCAAAT	0.488000														46			6		0	0	0.003080	0	0
GRIA3	2892	broad.mit.edu	37	X	122551295	122551295	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:122551295C>T	uc004etq.4	+	10	1835	c.1543C>T	c.(1543-1545)Cgt>Tgt	p.R515C	GRIA3_uc004etr.4_Missense_Mutation_p.R515C|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.R499C	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	515					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AACATTGGTCCGTGAAGAAGT	0.363000														38			51		0	0	0.003610	0	0
RCN1	5954	broad.mit.edu	37	11	32119928	32119928	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:32119928C>T	uc010reb.2	+	2	747	c.481C>T	c.(481-483)Cat>Tat	p.H161Y	RCN1_uc021qfp.1_5'UTR|RCN1_uc001mtk.3_5'UTR	NM_002901	NP_002892	Q15293	RCN1_HUMAN	Homo sapiens reticulocalbin 1, EF-hand calcium binding domain (RCN1), mRNA.	161						endoplasmic reticulum lumen	calcium ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					TTCTTCAGATCATCACACCTT	0.468000														47			9		0	0	0.001368	0	0
SLC35A4	113829	broad.mit.edu	37	5	139946813	139946813	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:139946813C>T	uc003lgg.1	+	2	787	c.59C>T	c.(58-60)aCc>aTc	p.T20I	APBB3_uc003lgc.1_5'Flank|APBB3_uc003lgd.1_5'Flank|APBB3_uc010jfp.1_5'Flank|APBB3_uc011czi.1_5'Flank|APBB3_uc003lge.1_5'Flank|APBB3_uc021yeg.1_5'Flank|APBB3_uc021yeh.1_5'Flank|APBB3_uc003lgf.1_5'Flank|APBB3_uc010jfr.1_5'Flank|SLC35A4_uc003lgh.1_Missense_Mutation_p.T20I|SLC35A4_uc021yei.1_Missense_Mutation_p.T20I	NM_080670	NP_542401	Q96G79	S35A4_HUMAN	Homo sapiens solute carrier family 35, member A4 (SLC35A4), mRNA.	20						Golgi membrane|integral to membrane	sugar:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCGCTGGACCCTGATGCTA	0.647000														59			17		0	0	0.006122	0	0
SLC45A1	50651	broad.mit.edu	37	1	8384558	8384558	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:8384558C>T	uc001apb.3	+	0	169	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C		NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	57					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGTGCATTCGTCCCTCCCC	0.647000														30			10		0	0	0.000978	0	0
NLRP9	338321	broad.mit.edu	37	19	56226547	56226547	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:56226547G>A	uc002qly.3	-	5	2403	c.2375C>T	c.(2374-2376)tCc>tTc	p.S792F		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	792						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GAGGACTTCGGAAATGGAGTC	0.527000														23			15		0	0	0.004007	0	0
SH3GLB1	51100	broad.mit.edu	37	1	87190087	87190087	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:87190087C>T	uc001dly.3	+	5	900	c.570_splice	c.e5+1	p.S190_splice	SH3GLB1_uc001dlw.3_Splice_Site_p.S190_splice|SH3GLB1_uc001dlz.3_Splice_Site_p.S90_splice|SH3GLB1_uc001dlx.3_Splice_Site_p.S190_splice	NM_001206651	NP_001193580	Q9Y371	SHLB1_HUMAN	Homo sapiens SH3-domain GRB2-like endophilin B1 (SH3GLB1), transcript variant 2, mRNA.	190	BAR.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	SH3 domain binding|cytoskeletal adaptor activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		ACTAGAAATTCAGTAAGTAAA	0.264000														13			5		0	0	0.001168	0	0
NPLOC4	55666	broad.mit.edu	37	17	79580495	79580495	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:79580495G>A	uc002kau.3	-	3	417	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S	NPLOC4_uc002kat.4_Missense_Mutation_p.P79S|NPLOC4_uc010wur.1_5'UTR	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	Homo sapiens nuclear protein localization 4 homolog (S. cerevisiae) (NPLOC4), mRNA.	79					ER-associated protein catabolic process|Golgi organization|cellular membrane fusion	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AGGCTCGAGGGAAACAGGAAC	0.512000														9			12		0	0	0.000978	0	0
EPHA8	2046	broad.mit.edu	37	1	22902951	22902951	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:22902951G>A	uc001bfx.1	+	2	526	c.401G>A	c.(400-402)gGg>gAg	p.G134E	EPHA8_uc001bfw.3_Missense_Mutation_p.G134E	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	134						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGCGACCTGGGGGCCAGCACA	0.587000														42			20		0	0	0.008871	0	0
OR1S2	219958	broad.mit.edu	37	11	57971493	57971493	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:57971493C>T	uc010rkb.2	-	0	161	c.161G>A	c.(160-162)gGg>gAg	p.G54E		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GAGCCCGTTCCCAACCACAGT	0.458000														48			23		0	0	0.002780	0	0
KRT3	3850	broad.mit.edu	37	12	53186500	53186500	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:53186500C>T	uc001say.3	-	3	1084	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	340	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CTTACAGCGTCGTAGAGGGTC	0.473000														73			99		0	0	0.003610	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999697	112999697	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:112999697C>T	uc001ebx.3	+	5	1811	c.1583C>T	c.(1582-1584)cCc>cTc	p.P528L	CTTNBP2NL_uc001ebz.3_Non-coding_Transcript	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA.	528						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACAGCTCTCCCTTTGGCACA	0.552000														43			28		0	0	0.009535	0	0
CPEB3	22849	broad.mit.edu	37	10	93841190	93841190	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:93841190C>T	uc001khw.2	-	8	1960	c.1756G>A	c.(1756-1758)Gag>Aag	p.E586K	CPEB3_uc001khu.2_Missense_Mutation_p.E595K|CPEB3_uc001khv.2_Missense_Mutation_p.E572K|CPEB3_uc010qnn.2_Missense_Mutation_p.E572K	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 3 (CPEB3), transcript variant 1, mRNA.	586	RRM 2.						RNA binding|nucleotide binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				TACTTCAGCTCTGGGTCCGTA	0.478000														29			6		0	0	0.001984	0	0
PHLDB2	90102	broad.mit.edu	37	3	111632319	111632319	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:111632319G>A	uc010hqa.3	+	2	1900	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K	PHLDB2_uc003dyc.3_Missense_Mutation_p.E524K|PHLDB2_uc003dyd.3_Missense_Mutation_p.E497K|PHLDB2_uc003dyg.3_Missense_Mutation_p.E497K|PHLDB2_uc003dyh.3_Missense_Mutation_p.E497K|PHLDB2_uc003dyi.3_Missense_Mutation_p.E83K|PHLDB2_uc003dyf.4_Missense_Mutation_p.E497K	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	497						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						TGTGTTTGAGGAAGCCCTCAT	0.532000														59			25		0	0	0.005443	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140228407	140228407	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140228407C>T	uc003lhu.2	+	0	1051	c.327C>T	c.(325-327)atC>atT	p.I109I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.I109I	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	124	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGATCGTAGACAGGC	0.542000														55			37		0	0	0.006999	0	0
TRANK1	9881	broad.mit.edu	37	3	36874009	36874009	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:36874009C>T	uc003cgj.3	-	20	7181	c.6933G>A	c.(6931-6933)gaG>gaA	p.E2311E		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2311					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGTAGTTGTCCTCCTCCTGGT	0.517000														72			35		0	0	0.003755	0	0
SYT10	341359	broad.mit.edu	37	12	33529798	33529798	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:33529798G>A	uc001rll.1	-	6	1836	c.1539C>T	c.(1537-1539)tcC>tcT	p.S513S	SYT10_uc009zju.1_Silent_p.S323S	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	513						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.G512E(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GAGAAGGGCAGGATCCTTGAC	0.403000														49			76		0	0	0.003610	0	0
MPP6	51678	broad.mit.edu	37	7	24663366	24663366	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:24663366G>A	uc003swx.3	+	2	379	c.80G>A	c.(79-81)gGa>gAa	p.G27E	MPP6_uc003swy.3_Missense_Mutation_p.G27E	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	27	L27 1.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TTCCTCAAGGGAATTATGGAG	0.348000														51			15		0	0	0.006122	0	0
GPR63	81491	broad.mit.edu	37	6	97246843	97246843	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:97246843G>A	uc010kcl.3	-	2	1243	c.765C>T	c.(763-765)ttC>ttT	p.F255F	GPR63_uc003pou.3_Silent_p.F255F|GPR63_uc021zcy.1_Silent_p.F255F	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA.	255						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GTATTACCAGGAAGGGTATGA	0.473000														45			34		0	0	0.003755	0	0
STEAP4	79689	broad.mit.edu	37	7	87912132	87912132	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:87912132G>A	uc022agz.1	-	3	1031	c.808C>T	c.(808-810)Ctg>Ttg	p.L270L	STEAP4_uc003ujs.3_Silent_p.L270L|STEAP4_uc010lek.3_Intron	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	270	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CCTCGGTACAGTTGTAGAATG	0.473000														40			7		0	0	0.003080	0	0
EPS8L1	54869	broad.mit.edu	37	19	55591120	55591120	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55591120G>A	uc002qis.4	+	4	284	c.180G>A	c.(178-180)agG>agA	p.R60R	EPS8L1_uc010ess.1_Silent_p.R42R|EPS8L1_uc010est.1_Silent_p.R60R|EPS8L1_uc010yfr.2_5'UTR|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_5'Flank|EPS8L1_uc002qiv.3_5'Flank|EPS8L1_uc002qiw.3_5'Flank	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	60						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ATGCCTCCAGGAAGTTGGCCG	0.622000														33			14		0	0	0.002450	0	0
C16orf62	57020	broad.mit.edu	37	16	19641139	19641139	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:19641139C>T	uc002dgn.2	+	17	1866	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F	C16orf62_uc002dgo.2_Silent_p.F539F|C16orf62_uc002dgp.2_Silent_p.F266F	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	517						integral to membrane		p.H516D(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GCAAGCATTTCACGGTATGTG	0.348000														32			15		0	0	0.003163	0	0
C20orf85	128602	broad.mit.edu	37	20	56728623	56728623	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:56728623C>T	uc002xyv.3	+	1	130	c.92C>T	c.(91-93)tCg>tTg	p.S31L		NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	Homo sapiens chromosome 20 open reading frame 85 (C20orf85), mRNA.	31										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			AAGGCTGAATCGGAAGCACGG	0.473000														53			29		0	0	0.002836	0	0
RPP25L	138716	broad.mit.edu	37	9	34611258	34611258	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:34611258G>A	uc022bgh.1	-	0	36	c.36C>T	c.(34-36)ctC>ctT	p.L12L	RPP25L_uc003zuu.3_Silent_p.L12L|RPP25L_uc003zuv.3_Silent_p.L12L	NM_148179	NP_680545	Q8N5L8	CI023_HUMAN	Homo sapiens chromosome 9 open reading frame 23 (C9orf23), transcript variant 2, mRNA.	12							nucleic acid binding										AAGGCGCTGGGAGCTCTACAG	0.582000														22			7		0	0	0.004482	0	0
SMC4	10051	broad.mit.edu	37	3	160119868	160119868	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:160119868G>A	uc003fdh.3	+	2	418	c.305G>A	c.(304-306)gGa>gAa	p.G102E	IFT80_uc003fda.3_Intron|IFT80_uc021xgq.1_5'Flank|IFT80_uc003fde.2_5'Flank|IFT80_uc003fdd.2_5'Flank|SMC4_uc003fdf.1_Non-coding_Transcript|SMC4_uc003fdg.1_Missense_Mutation_p.G102E|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.3_Missense_Mutation_p.G77E|SMC4_uc003fdj.3_Missense_Mutation_p.G102E|SMC4_uc010hwd.3_Missense_Mutation_p.G102E|MIR15B_uc011boz.1_5'Flank|MIR16-2_uc003fdk.3_5'Flank	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	102					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAAATTCTGGGACCTTTCCAT	0.353000														30			6		0	0	0.001168	0	0
ATRN	8455	broad.mit.edu	37	20	3577041	3577041	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:3577041G>A	uc002wim.2	+	20	3524	c.3434G>A	c.(3433-3435)cGa>cAa	p.R1145Q	ATRN_uc002wil.2_Missense_Mutation_p.R1145Q|ATRN_uc021vzz.1_Missense_Mutation_p.R1029Q	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	1145	Laminin EGF-like 2.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GTAGAAAATCGATACCAAGGA	0.318000														38			21		0	0	0.003330	0	0
CASC4	113201	broad.mit.edu	37	15	44705554	44705554	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:44705554C>T	uc001ztp.3	+	9	1580	c.1261C>T	c.(1261-1263)Caa>Taa	p.Q421*	CASC4_uc001ztq.3_Nonsense_Mutation_p.Q365*	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN	Homo sapiens cancer susceptibility candidate 4 (CASC4), transcript variant 1, mRNA.	196						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		ACGAGAGCTTCAAATGGATCC	0.308000														12			5		0	0	0.001168	0	0
SRRM2	23524	broad.mit.edu	37	16	2813042	2813042	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:2813042C>T	uc002crk.3	+	10	3062	c.2513C>T	c.(2512-2514)tCa>tTa	p.S838L	SRRM2_uc002crj.1_Missense_Mutation_p.S742L|SRRM2_uc002crl.1_Missense_Mutation_p.S838L|SRRM2_uc010bsu.1_Missense_Mutation_p.S742L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	838	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CATTCCAGTTCATCTCCTCAT	0.493000														136			55		0	0	0.003610	0	0
PREX1	57580	broad.mit.edu	37	20	47271867	47271867	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:47271867G>A	uc002xtw.1	-	18	2193	c.2170C>T	c.(2170-2172)Cgt>Tgt	p.R724C	PREX1_uc002xtv.1_Missense_Mutation_p.R21C	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	724					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding	p.R724C(3)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCAGCTCCACGAATCTGGAAG	0.562000														16			4		0	0	0.001168	0	0
CKM	1158	broad.mit.edu	37	19	45822867	45822867	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:45822867G>A	uc002pbd.3	-	1	278	c.105C>T	c.(103-105)acC>acT	p.T35T		NM_001824	NP_001815	P06732	KCRM_HUMAN	Homo sapiens creatine kinase, muscle (CKM), mRNA.	35	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	AGAGTTCAAGGGTCAGTACCT	0.522000														71			37		0	0	0.005524	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38146187	38146187	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:38146187G>A	uc003xli.3	-	18	3837	c.3319C>T	c.(3319-3321)Cct>Tct	p.P1107S	WHSC1L1_uc011lbm.2_Missense_Mutation_p.P1107S|WHSC1L1_uc010lwe.3_Missense_Mutation_p.P1058S	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	1107	AWS.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AAGCCACAAGGGTTTTCATCA	0.493000			T	NUP98	AML									58			22		0	0	0.002299	0	0
ZNF512	84450	broad.mit.edu	37	2	27844028	27844028	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:27844028C>T	uc002rla.3	+	13	1491	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	ZNF512_uc010ylw.2_Silent_p.F439F|ZNF512_uc002rlb.3_Silent_p.F389F|ZNF512_uc010ylx.2_Silent_p.F389F|ZNF512_uc002rlc.3_Silent_p.F389F|ZNF512_uc010ylv.2_Silent_p.F389F|ZNF512_uc010yly.1_Non-coding_Transcript|ZNF512_uc010ylz.2_Silent_p.F361F	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	Homo sapiens zinc finger protein 512 (ZNF512), mRNA.	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F468F(4)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AGGACTGGTTCGTTGTAAACC	0.418000														30			22		0	0	0.003954	0	0
PPYR1	5540	broad.mit.edu	37	10	47087788	47087788	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:47087788C>T	uc001jee.3	+	2	1424	c.1005C>T	c.(1003-1005)gcC>gcT	p.A335A	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.A335A|PPYR1_uc021ppu.1_Silent_p.A335A	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	335					blood circulation|digestion|feeding behavior	integral to plasma membrane		p.A335A(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGATCAAGGCCCTGGTGCTGA	0.552000														82			10		0	0	0.000978	0	0
CSMD1	64478	broad.mit.edu	37	8	3081268	3081268	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:3081268G>A	uc022aqr.1	-	27	4857	c.4467C>T	c.(4465-4467)atC>atT	p.I1489I	CSMD1_uc011kwj.2_Silent_p.I882I|CSMD1_uc003wqe.3_Silent_p.I646I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1490	CUB 9.					integral to membrane		p.I1489I(1)|p.I1218I(1)		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)		ATATCAAGGCGATGACAAAGT	0.428000														55			14		0	0	0.004007	0	0
CACNA1E	777	broad.mit.edu	37	1	181754494	181754494	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:181754494G>A	uc009wxt.3	+	41	5814	c.5619G>A	c.(5617-5619)atG>atA	p.M1873I	CACNA1E_uc001gow.3_Missense_Mutation_p.M1873I|CACNA1E_uc009wxs.3_Missense_Mutation_p.M1854I	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1873					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						CAGCAATGATGATCATGGACT	0.483000														20			5		0	0	0.001168	0	0
PSD	5662	broad.mit.edu	37	10	104176737	104176737	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:104176737C>T	uc001kvg.1	-	1	586	c.59G>A	c.(58-60)cGa>cAa	p.R20Q	PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Missense_Mutation_p.R20Q|PSD_uc001kvi.1_Missense_Mutation_p.R20Q|FBXL15_uc001kvj.1_5'Flank|FBXL15_uc001kvk.2_5'Flank	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	20	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCGTGGGCATCGTGGTGGGGA	0.711000														8			5		0	0	0.000602	0	0
THSD7B	80731	broad.mit.edu	37	2	138413174	138413174	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:138413174G>A	uc002tva.1	+	20	3959	c.3959G>A	c.(3958-3960)gGa>gAa	p.G1320E	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCACTGTGTGGAGAAATGCCC	0.537000														18			9		0	0	0.004482	0	0
SLC9A2	6549	broad.mit.edu	37	2	103317563	103317564	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:103317563_103317564CT>TC	uc002tca.3	+	7	1763_1764	c.1621_1622CT>TC	c.(1621-1623)ctt>TCt	p.L541S		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	541						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCTGCGGAAGCTTTTGATTCGG	0.302000														41			12		0	0	0.004672	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212379	26212379	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:26212379C>T	uc022buc.1	+	0	416	c.416C>T	c.(415-417)tCc>tTc	p.S139F	MAGEB6_uc004dbr.3_Missense_Mutation_p.S139F	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	139	Ser-rich.							p.T138T(1)|p.S139S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCAAGCACTTCCCATGATGTC	0.537000														20			6		0	0	0.001168	0	0
NEB	4703	broad.mit.edu	37	2	152410392	152410392	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:152410392C>T	uc021vrb.1	-	96	14502	c.14473G>A	c.(14473-14475)Gac>Aac	p.D4825N	NEB_uc002txr.3_Missense_Mutation_p.D1291N|NEB_uc002txu.3_Missense_Mutation_p.D6526N|NEB_uc021vrc.1_Missense_Mutation_p.D6526N|NEB_uc010fnx.3_Missense_Mutation_p.D4813N|NEB_uc021vrd.1_Missense_Mutation_p.D4825N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4825					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	p.P4824P(1)		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)		ACTTGCAAGTCGGGGTGGCAA	0.547000														36			26		0	0	0.003954	0	0
FANCM	57697	broad.mit.edu	37	14	45633685	45633685	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:45633685C>T	uc001wwd.4	+	9	1804	c.1705C>T	c.(1705-1707)Cgt>Tgt	p.R569C	FANCM_uc001wwc.2_Missense_Mutation_p.R569C|FANCM_uc010anf.3_Missense_Mutation_p.R543C|FANCM_uc001wwe.4_Intron	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	569	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding	p.R569C(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAGCCCAATTCGTCTTGTACA	0.433000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					41			12		0	0	0.001368	0	0
LRRC8D	55144	broad.mit.edu	37	1	90399360	90399360	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:90399360G>A	uc021opq.1	+	0	733	c.733G>A	c.(733-735)Ggg>Agg	p.G245R	LRRC8D_uc001dnm.3_Missense_Mutation_p.G245R|LRRC8D_uc001dnn.3_Missense_Mutation_p.G245R	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	245						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CAGTGATGAAGGGAGCCCCAG	0.458000														34			17		0	0	0.007413	0	0
RGS22	26166	broad.mit.edu	37	8	101016271	101016271	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:101016271C>T	uc003yjb.1	-	16	2705	c.2510G>A	c.(2509-2511)cGa>cAa	p.R837Q	RGS22_uc003yja.1_Missense_Mutation_p.R656Q|RGS22_uc003yjc.1_Missense_Mutation_p.R825Q|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.R226Q|SNORD77_uc022azg.1_5'Flank	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	837					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.R837Q(3)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATATTCTGTTCGTTTAGAGAC	0.353000														33			18		0	0	0.010504	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98376449	98376449	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:98376449C>T	uc001kmq.3	-	12	2089	c.1961G>A	c.(1960-1962)aGa>aAa	p.R654K	PIK3AP1_uc001kmo.3_Missense_Mutation_p.R253K|PIK3AP1_uc001kmp.3_Missense_Mutation_p.R476K|5S_rRNA_uc021pwo.1_5'Flank	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	654						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GATGCTGTCTCTTAGCCGTTT	0.413000														40			10		0	0	0.001368	0	0
FAM73A	374986	broad.mit.edu	37	1	78272765	78272765	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:78272765C>T	uc010ork.2	+	4	648	c.616C>T	c.(616-618)Cca>Tca	p.P206S	FAM73A_uc001dhx.3_Missense_Mutation_p.P206S|FAM73A_uc010orl.2_Missense_Mutation_p.P168S|FAM73A_uc001dhy.1_5'UTR	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA.	206						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TGTGACTACTCCAGAGAACTT	0.333000														50			23		0	0	0.004656	0	0
REG1A	5967	broad.mit.edu	37	2	79349191	79349191	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:79349191G>A	uc010ysd.2	+	2	328	c.261G>A	c.(259-261)ctG>ctA	p.L87L	REG1A_uc010ffx.1_3'UTR|REG1A_uc002snz.3_Silent_p.L87L	NM_002909	NP_002900	P05451	REG1A_HUMAN	Homo sapiens regenerating islet-derived 1 alpha (REG1A), mRNA.	87	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TGGCCTCACTGATTAAGGAGA	0.502000														54			19		0	0	0.008871	0	0
SLC16A6	9120	broad.mit.edu	37	17	66267746	66267746	+	Silent	SNP	G	A	A	rs141718604		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:66267746G>A	uc002jha.2	-	5	868	c.555C>T	c.(553-555)ttC>ttT	p.F185F	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jgz.2_Silent_p.F185F	NM_001174166	NP_004685	O15403	MOT7_HUMAN	Homo sapiens solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), transcript variant 1, mRNA.	185						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GTAGGCCCACGAAGAGGAGGC	0.458000														28			16		0	0	0.006122	0	0
CEP85L	387119	broad.mit.edu	37	6	118791736	118791736	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:118791736T>C	uc003pya.2	-	11	2062	c.1995A>G	c.(1993-1995)gaA>gaG	p.E665E	CEP85L_uc003pxz.2_Silent_p.E662E	NM_001178035	NP_001171506	Q5SZL2	CF204_HUMAN	Homo sapiens centrosomal protein 85kDa-like (CEP85L), transcript variant 3, mRNA.	662						centrosome											GTACATTTCTTTCTTTCTTTT	0.303000														72			11		0	0	0.002450	0	0
OR14J1	442191	broad.mit.edu	37	6	29275110	29275110	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:29275110C>T	uc011dln.2	+	0	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						ATTGTGCTCTCCTACATTCGC	0.468000														118			9		0	0	0.004482	0	0
PDE7B	27115	broad.mit.edu	37	6	136495007	136495007	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:136495007C>T	uc003qgp.3	+	8	1087	c.784C>T	c.(784-786)Cat>Tat	p.H262Y	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Missense_Mutation_p.H314Y	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	262	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	GCTTCTTGCTCATTTGCCAAA	0.418000														45			14		0	0	0.003163	0	0
GABRD	2563	broad.mit.edu	37	1	1956779	1956779	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:1956779C>T	uc001aip.2	+	2	283	c.188C>T	c.(187-189)cCc>cTc	p.P63L		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	63						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GCAGGCCCCCCCGTGAATGTG	0.652000														91			24		0	0	0.007291	0	0
CMYA5	202333	broad.mit.edu	37	5	79026948	79026948	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:79026948G>A	uc003kgc.3	+	1	2432	c.2360G>A	c.(2359-2361)gGa>gAa	p.G787E		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	787						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGGACCTAGGAAGTGAACGT	0.468000														27			13		0	0	0.001855	0	0
EPPK1	83481	broad.mit.edu	37	8	144940440	144940440	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:144940440C>T	uc003zaa.1	-	0	6995	c.6982G>A	c.(6982-6984)Gac>Aac	p.D2328N		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2328						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACGATGAGGTCCTTCTGCATG	0.692000														248			14		0	0	0.001882	0	0
SDK1	221935	broad.mit.edu	37	7	3861081	3861081	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:3861081G>A	uc003smx.3	+	5	853	c.714_splice	c.e5-1	p.I238_splice		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	238	Ig-like C2-type 2.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TTCTGAAACAGAGCCATCACA	0.453000														43			20		0	0	0.001882	0	0
CCT5	22948	broad.mit.edu	37	5	10256136	10256136	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:10256136C>T	uc003jeq.3	+	3	572	c.401C>T	c.(400-402)gCc>gTc	p.A134V	CCT5_uc011cmq.2_Intron|CCT5_uc011cmr.2_Missense_Mutation_p.A79V|CCT5_uc011cms.2_Missense_Mutation_p.A96V|CCT5_uc011cmt.2_Missense_Mutation_p.A41V	NM_012073	NP_036205	P48643	TCPE_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 5 (epsilon) (CCT5), mRNA.	134					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						ATCAGAATAGCCGATGGCTAT	0.502000														14			9		0	0	0.000978	0	0
SEC16A	9919	broad.mit.edu	37	9	139345853	139345853	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:139345853G>A	uc004chx.3	-	22	6476	c.6167C>T	c.(6166-6168)tCg>tTg	p.S2056L	SEC16A_uc004chr.3_5'Flank|SEC16A_uc004chs.3_5'UTR|SEC16A_uc004cht.3_Missense_Mutation_p.S87L|SEC16A_uc004chu.3_Missense_Mutation_p.S241L|SEC16A_uc004chv.4_Missense_Mutation_p.S1446L|SEC16A_uc004chw.3_Missense_Mutation_p.S2056L|SEC16A_uc010nbn.3_Missense_Mutation_p.S2056L	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	1878	Pro-rich.|Required for interaction with SEC23A.				protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CACCGTCCTCGAGGGGGTCTG	0.627000														38			6		0	0	0.001168	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674741	71674741	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:71674741G>A	uc002fau.3	+	2	1107	c.1044G>A	c.(1042-1044)tgG>tgA	p.W348*	PHLPP2_uc002fav.3_Non-coding_Transcript|MARVELD3_uc010cge.3_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	Homo sapiens MARVEL domain containing 3 (MARVELD3), transcript variant 1, mRNA.	351	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GTCTCACCTGGATGGACTGCC	0.587000														34			14		0	0	0.004990	0	0
OR5H6	79295	broad.mit.edu	37	3	97983425	97983425	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:97983425C>T	uc003dsi.1	+	0	297	c.297C>T	c.(295-297)atC>atT	p.I99I		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGATGCTGATCAACTTCTTAG	0.408000														62			28		0	0	0.002096	0	0
PHACTR3	116154	broad.mit.edu	37	20	58342337	58342337	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:58342337C>T	uc002yau.3	+	4	1105	c.638C>T	c.(637-639)tCc>tTc	p.S213F	PHACTR3_uc002yat.3_Missense_Mutation_p.S210F|PHACTR3_uc010zzw.2_Missense_Mutation_p.S172F|PHACTR3_uc002yav.3_Missense_Mutation_p.S172F|PHACTR3_uc002yaw.3_Missense_Mutation_p.S172F|PHACTR3_uc002yax.3_Intron	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	213						nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.S213F(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GGGGCTGACTCCCTGGACAGT	0.632000														25			11		0	0	0.008291	0	0
COL1A2	1278	broad.mit.edu	37	7	94052311	94052311	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:94052311G>A	uc003ung.1	+	39	2917	c.2446G>A	c.(2446-2448)Gaa>Aaa	p.E816K	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	816			Missing (in OI2A).		Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGCTGGGAAAGAAGGGCTTCG	0.562000										HNSCC(75;0.22)				95			31		0	0	0.009535	0	0
KRT9	3857	broad.mit.edu	37	17	39727770	39727770	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:39727770C>T	uc002hxe.4	-	0	541	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	159	Coil 1A.|Rod.			MQELNSRLASYLDK -> HLGAGSTPITASQP (in Ref. 6; AAI21171).	intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	p.E159K(2)		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)				GAATTGAGTTCCTGCATGGTG	0.527000														9			19		0	0	0.008871	0	0
KCNT2	343450	broad.mit.edu	37	1	196451491	196451491	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196451491C>T	uc001gtd.1	-	3	354	c.294G>A	c.(292-294)gtG>gtA	p.V98V	KCNT2_uc001gte.1_Silent_p.V98V|KCNT2_uc001gtf.1_Silent_p.V98V|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Silent_p.V98V|KCNT2_uc009wyv.1_Silent_p.V98V	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	98						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GACTTCTGTTCACCCAAAAGA	0.284000														15			8		0	0	0.004482	0	0
SNRK	54861	broad.mit.edu	37	3	43388867	43388868	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:43388867_43388868CC>TT	uc003cms.4	+	6	1448_1449	c.1116_1117CC>TT	c.(1114-1119)gacctt>gaTTtt	p.L373F	SNRK_uc003cmt.4_Missense_Mutation_p.L373F|SNRK_uc010hik.3_Missense_Mutation_p.L373F|SNRK_uc011azr.2_Missense_Mutation_p.L167F	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.	373					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TACCCCAGGACCTTGAGGATGA	0.500000														130			31		0	0	0.004672	0	0
KRTAP10-6	386674	broad.mit.edu	37	21	46012258	46012258	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:46012258G>A	uc002zfm.3	-	0	129	c.108C>T	c.(106-108)gaC>gaT	p.D36D	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	36						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						TCTCTGGGCAGTCGTCCACCT	0.687000														9			6		0	0	0.001984	0	0
PRICKLE4	29964	broad.mit.edu	37	6	41752781	41752781	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:41752781C>T	uc011duf.1	+	4	597	c.349C>T	c.(349-351)Ccc>Tcc	p.P117S	PRICKLE4_uc003ord.2_Non-coding_Transcript|TOMM6_uc003org.3_5'Flank|TOMM6_uc011dug.1_5'Flank	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	Homo sapiens prickle homolog 4 (Drosophila) (PRICKLE4), mRNA.	77	LIM zinc-binding 1.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTGGTACTTCCCAAGCTTGA	0.612000														77			11		0	0	0.000978	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43474338	43474338	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:43474338G>A	uc002iix.3	-	10	1321	c.872C>T	c.(871-873)tCg>tTg	p.S291L	ARHGAP27_uc010dak.3_Missense_Mutation_p.S264L	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Homo sapiens Rho GTPase activating protein 27 (ARHGAP27), transcript variant 1, mRNA.	632					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GCGCTCGCTCGACCCGAAGTC	0.667000														23			45		0	0	0.003610	0	0
POP4	10775	broad.mit.edu	37	19	30104821	30104821	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:30104821C>T	uc002nsf.2	+	5	524	c.468C>T	c.(466-468)atC>atT	p.I156I	POP4_uc002nsg.2_Silent_p.I75I	NM_006627	NP_006618	O95707	RPP29_HUMAN	Homo sapiens processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae) (POP4), transcript variant 1, mRNA.	156					mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	RNA binding|identical protein binding|ribonuclease P activity			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			TTACAGGAATCCTTCTACAGG	0.473000														40			13		0	0	0.003163	0	0
CLSTN2	64084	broad.mit.edu	37	3	139894845	139894845	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:139894845G>A	uc003etn.3	+	1	352	c.162G>A	c.(160-162)gaG>gaA	p.E54E	CLSTN2_uc003etm.2_Silent_p.E54E	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	54	Cadherin 1.				homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCATAACTGAGAACAATGACA	0.423000										HNSCC(16;0.037)				30			21		0	0	0.002780	0	0
DSC1	1823	broad.mit.edu	37	18	28737393	28737393	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:28737393C>T	uc002kwn.3	-	2	554	c.292G>A	c.(292-294)Gat>Aat	p.D98N	DSC1_uc002kwm.3_Missense_Mutation_p.D98N	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	98					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)			CTCTGACCATCTGAAAGGAAA	0.408000														21			13		0	0	0.001368	0	0
ATP2C2	9914	broad.mit.edu	37	16	84456112	84456112	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:84456112C>T	uc010chj.3	+	7	830	c.741C>T	c.(739-741)ttC>ttT	p.F247F	ATP2C2_uc002fhx.3_Silent_p.F247F|ATP2C2_uc002fhy.3_Silent_p.F264F|ATP2C2_uc002fhz.3_Silent_p.F96F	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	247					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						ACATCGTCTTCATGGGGACCC	0.592000														33			22		0	0	0.002299	0	0
FAT4	79633	broad.mit.edu	37	4	126241317	126241317	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:126241317A>G	uc003ifj.4	+	0	3751	c.3751A>G	c.(3751-3753)Aaa>Gaa	p.K1251E		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1251	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTCTATAATAAAAGGAAATGA	0.368000														12			12		0	0	0.002450	0	0
MYPN	84665	broad.mit.edu	37	10	69934371	69934371	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:69934371C>T	uc001jnm.4	+	11	2707	c.2522C>T	c.(2521-2523)cCa>cTa	p.P841L	MYPN_uc001jnn.4_Missense_Mutation_p.P566L|MYPN_uc001jno.4_Missense_Mutation_p.P841L|MYPN_uc009xpt.3_Missense_Mutation_p.P841L|MYPN_uc010qit.2_Missense_Mutation_p.P547L|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	841	Pro-rich.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CCTGCCATCCCACCCACAAAT	0.522000														26			13		0	0	0.003163	0	0
TMEM132A	54972	broad.mit.edu	37	11	60699489	60699489	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:60699489G>A	uc001nqi.3	+	6	1442	c.1249G>A	c.(1249-1251)Gga>Aga	p.G417R	TMEM132A_uc001nqj.3_Missense_Mutation_p.G416R|TMEM132A_uc001nqk.3_Missense_Mutation_p.G429R|TMEM132A_uc001nql.1_3'UTR	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	416						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						ACCACTGACTGGAGTGCCCCA	0.662000														33			25		0	0	0.003330	0	0
NCOA2	10499	broad.mit.edu	37	8	71069324	71069324	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:71069324G>A	uc003xyn.1	-	10	1438	c.1276C>T	c.(1276-1278)Ccc>Tcc	p.P426S		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	426					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)			CCATTTATGGGAAAATTTATA	0.517000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""									27			7		0	0	0.003080	0	0
CACNA1G	8913	broad.mit.edu	37	17	48697080	48697080	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:48697080C>T	uc002irk.1	+	33	6190	c.5818C>T	c.(5818-5820)Cag>Tag	p.Q1940*	CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Intron|CACNA1G_uc002irm.1_Nonsense_Mutation_p.Q1906*|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Nonsense_Mutation_p.Q1940*|CACNA1G_uc002irq.1_Nonsense_Mutation_p.Q1917*|CACNA1G_uc002irr.1_Intron|CACNA1G_uc002irs.1_Nonsense_Mutation_p.Q1929*|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002iru.1_Nonsense_Mutation_p.Q1906*|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Intron|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Intron|CACNA1G_uc002irz.1_Intron|CACNA1G_uc002isa.1_Intron|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002isb.1_Intron|CACNA1G_uc002isc.1_Nonsense_Mutation_p.Q1842*|CACNA1G_uc002ise.1_Nonsense_Mutation_p.Q1808*|CACNA1G_uc002isf.1_Nonsense_Mutation_p.Q1835*	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1940					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTGCTGATCCAGGGCTCCCT	0.672000														7			12		0	0	0.001368	0	0
SCIN	85477	broad.mit.edu	37	7	12666397	12666397	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:12666397G>A	uc003ssn.4	+	7	1380	c.1170G>A	c.(1168-1170)atG>atA	p.M390I	SCIN_uc010ktt.3_Non-coding_Transcript|SCIN_uc003sso.4_Missense_Mutation_p.M143I	NM_001112706	NP_149119	Q9Y6U3	ADSV_HUMAN	Homo sapiens scinderin (SCIN), transcript variant 1, mRNA.	390	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		AGCACAATATGGTGGATGATG	0.438000														9			3		0	0	0.004672	0	0
FCGBP	8857	broad.mit.edu	37	19	40411743	40411743	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:40411743C>T	uc002omp.4	-	6	3893	c.3885G>A	c.(3883-3885)caG>caA	p.Q1295Q		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1295	VWFD 3.					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)			CCACGTTCTCCTGCAGGACGG	0.637000														42			22		0	0	0.004878	0	0
LAMP3	27074	broad.mit.edu	37	3	182858380	182858380	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:182858380C>T	uc003flh.4	-	3	1116	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	298					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TATGATTCTTCATCCTGTAAA	0.373000														31			29		0	0	0.002445	0	0
EIF3F	8665	broad.mit.edu	37	11	8016539	8016539	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:8016539C>T	uc001mfw.3	+	5	1211	c.756C>T	c.(754-756)atC>atT	p.I252I	EIF3F_uc010rbj.2_Silent_p.I103I	NM_003754	NP_003745	O00303	EIF3F_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit F (EIF3F), mRNA.	252						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTGACCTGATCATGAAGACCT	0.522000														40			19		0	0	0.003330	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6528454	6528454	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:6528454G>A	uc001anp.1	-	20	3171	c.2673C>T	c.(2671-2673)tcC>tcT	p.S891S	PLEKHG5_uc001ann.1_Silent_p.S851S|PLEKHG5_uc001ano.1_Silent_p.S870S|PLEKHG5_uc001anq.1_Intron|TNFRSF25_uc001ana.3_5'Flank|TNFRSF25_uc001anb.3_5'Flank|TNFRSF25_uc001anc.3_5'Flank|TNFRSF25_uc001and.3_5'Flank|TNFRSF25_uc009vlz.3_5'Flank|TNFRSF25_uc001ane.3_5'Flank|TNFRSF25_uc001anf.3_5'Flank|TNFRSF25_uc001ang.3_5'Flank|TNFRSF25_uc001anh.3_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Silent_p.S375S|PLEKHG5_uc009vma.1_Silent_p.S654S|PLEKHG5_uc010nzr.1_Silent_p.S883S|PLEKHG5_uc001ank.1_Silent_p.S814S|PLEKHG5_uc009vmb.1_Silent_p.S814S|PLEKHG5_uc001anl.1_Silent_p.S814S|PLEKHG5_uc001anm.1_Silent_p.S814S	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	870					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CAGAGTCCATGGAGCAGGAGC	0.652000														8			5		0	0	0.001168	0	0
PRKD1	5587	broad.mit.edu	37	14	30102112	30102112	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:30102112G>A	uc001wqh.3	-	8	1536	c.1355C>T	c.(1354-1356)aCc>aTc	p.T452I	MIR548AI_uc021rrv.1_Intron	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	Homo sapiens protein kinase D1 (PRKD1), mRNA.	452	PH.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CTGAAAGAGGGTAATACATTT	0.368000														88			25		0	0	0.006320	0	0
ADCY5	111	broad.mit.edu	37	3	123022947	123022947	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:123022947G>A	uc003egh.2	-	12	2526	c.2526C>T	c.(2524-2526)atC>atT	p.I842I	ADCY5_uc021xdd.1_Silent_p.I492I|ADCY5_uc003egg.2_Silent_p.I475I|ADCY5_uc003egi.1_Silent_p.I401I	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	842					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		ACACCAGGGTGATGGTGAACA	0.607000														20			9		0	0	0.000978	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945450	16945450	+	RNA	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:16945450G>A	uc010ocf.2	-	3		c.707C>T			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		GCCTCCCTACGACGGCAGGCC	0.642000														96			9		0	0	0.006214	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820805	35820805	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:35820805G>A	uc010ngt.1	+	1	771	c.492G>A	c.(490-492)atG>atA	p.M164I	MAGEB16_uc022bus.1_Missense_Mutation_p.M164I	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	164	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ACCTAGAGATGATATTTGGCC	0.468000														40			23		0	0	0.003330	0	0
CAMK1D	57118	broad.mit.edu	37	10	12803023	12803023	+	Missense_Mutation	SNP	C	T	T	rs143417427	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:12803023C>T	uc001ilo.3	+	3	611	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	CAMK1D_uc001iln.3_Missense_Mutation_p.R126C	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	126	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.R126S(3)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CACTCTGATCCGCCAAGTCTT	0.527000														118			38		0	0	0.002852	0	0
OSBPL5	114879	broad.mit.edu	37	11	3115047	3115047	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:3115047T>C	uc001lxk.2	-	15	1896	c.1738A>G	c.(1738-1740)Acc>Gcc	p.T580A	OSBPL5_uc010qxq.1_Missense_Mutation_p.T491A|OSBPL5_uc009ydw.2_Missense_Mutation_p.T512A|OSBPL5_uc001lxl.2_Missense_Mutation_p.T512A|OSBPL5_uc009ydx.3_Missense_Mutation_p.T604A|OSBPL5_uc001lxj.2_Missense_Mutation_p.T34A	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA.	580					Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TTGATGCTGGTGCTACCCCCG	0.652000														15			8		0	0	0.003080	0	0
TNN	63923	broad.mit.edu	37	1	175054614	175054614	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:175054614C>T	uc001gkl.1	+	5	1421	c.1308C>T	c.(1306-1308)ctC>ctT	p.L436L	TNN_uc010pmx.1_Silent_p.L436L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	436	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGCCGATCCTCCTGAATGGCA	0.522000														9			3		0	0	0.009096	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204228696	204228696	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:204228696G>A	uc001hau.3	-	7	1014	c.697C>T	c.(697-699)Ccg>Tcg	p.P233S	PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	233	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCTTTCACCGGAGGCTCTTTC	0.647000														45			19		0	0	0.002299	0	0
MALL	7851	broad.mit.edu	37	2	110849256	110849256	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:110849256G>A	uc002tfk.3	-	1	971	c.197C>T	c.(196-198)tCg>tTg	p.S66L	MALL_uc010fju.3_Intron	NM_005434	NP_005425	Q13021	MALL_HUMAN	Homo sapiens mal, T-cell differentiation protein-like (MALL), mRNA.	66	MARVEL.				cholesterol homeostasis	Golgi membrane|clathrin-coated vesicle|integral to membrane|membrane raft|plasma membrane	protein binding			kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		GATGAGAAACGAGGTGAGCGA	0.458000														63			17		0	0	0.004990	0	0
CHRNA1	1134	broad.mit.edu	37	2	175622373	175622373	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:175622373G>A	uc002ujd.2	-	4	418	c.340C>T	c.(340-342)Cca>Tca	p.P114S	BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.P89S|CHRNA1_uc002ujf.4_Missense_Mutation_p.P89S	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA.	114					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						TAGTCATCTGGATTCCATTTT	0.393000														36			17		0	0	0.008871	0	0
CCDC150	284992	broad.mit.edu	37	2	197540974	197540974	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:197540974C>T	uc002utp.1	+	10	1380	c.1245C>T	c.(1243-1245)acC>acT	p.T415T	CCDC150_uc010zgq.1_Non-coding_Transcript|CCDC150_uc010zgr.1_Non-coding_Transcript|CCDC150_uc010zgs.1_Silent_p.T83T	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	415										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						ATGAGAAAACCCAACTCCAGG	0.393000														114			39		0	0	0.002522	0	0
NEURL	9148	broad.mit.edu	37	10	105349906	105349906	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:105349906C>T	uc001kxh.3	+	5	1912	c.1502C>T	c.(1501-1503)tCg>tTg	p.S501L	SH3PXD2A_uc010qqr.2_Intron|NEURL_uc021pxn.1_Missense_Mutation_p.S484L	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	501					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)		GCCCCCAATTCGCCAGTGAGC	0.632000														63			18		0	0	0.004990	0	0
CCDC108	255101	broad.mit.edu	37	2	219868948	219868948	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:219868948C>T	uc002vjl.1	-	32	5365	c.5281G>A	c.(5281-5283)Gaa>Aaa	p.E1761K	MIR375_uc010fvz.1_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1761	Glu-rich.					integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		tccccctcttccttctTTCCC	0.557000														55			18		0	0	0.010504	0	0
NLRP13	126204	broad.mit.edu	37	19	56413423	56413423	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:56413423C>T	uc010ygg.2	-	8	2792	c.2767G>A	c.(2767-2769)Gat>Aat	p.D923N		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	923							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGGTTACCATCTGGGCGACCC	0.547000														46			9		0	0	0.008291	0	0
VWA2	340706	broad.mit.edu	37	10	116045715	116045715	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:116045715G>A	uc001lbl.1	+	10	1336	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	VWA2_uc001lbk.1_Missense_Mutation_p.E339K|VWA2_uc009xyf.1_Missense_Mutation_p.E35K	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	339						extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		GCTGAGCCTGGAATGCAGGGT	0.627000														21			10		0	0	0.006214	0	0
GBP1	2633	broad.mit.edu	37	1	89520832	89520832	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:89520832C>T	uc001dmx.2	-	8	1655	c.1435G>A	c.(1435-1437)Gac>Aac	p.D479N		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	479					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		AGAGTCTGGTCTGTCTGGAGA	0.423000														18			7		0	0	0.001855	0	0
SLC38A4	55089	broad.mit.edu	37	12	47172511	47172511	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:47172511G>A	uc001rpi.2	-	10	1165	c.766C>T	c.(766-768)Cac>Tac	p.H256Y	SLC38A4_uc001rpj.2_Missense_Mutation_p.H256Y	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	256					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CCAACACTGTGATCCAAAACA	0.363000														17			32		0	0	0.003755	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87151710	87151710	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:87151710G>A	uc003ydp.1	+	2	396	c.327G>A	c.(325-327)gtG>gtA	p.V109V		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 (ATP6V0D2), mRNA.	109					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	p.N108I(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TAGACAATGTGATTCTGCTGA	0.423000														49			14		0	0	0.003163	0	0
KSR2	283455	broad.mit.edu	37	12	117962898	117962898	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:117962898C>T	uc001two.2	-	13	1946	c.1891G>A	c.(1891-1893)Gac>Aac	p.D631N		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	660					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGGGGATGTCCCACTCCTGA	0.617000														28			32		0	0	0.004289	0	0
MYO7A	4647	broad.mit.edu	37	11	76909548	76909548	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:76909548C>T	uc001oyb.2	+	33	4722	c.4450C>T	c.(4450-4452)Ctc>Ttc	p.L1484F	MYO7A_uc010rsm.1_Missense_Mutation_p.L1473F|MYO7A_uc001oyc.2_Missense_Mutation_p.L1484F|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.L695F	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1484	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGGCCCCAGTCTCCCCAAGAA	0.592000														41			5		0	0	0.000602	0	0
GALNT6	11226	broad.mit.edu	37	12	51757921	51757921	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:51757921C>T	uc001ryk.2	-	4	1258	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.E345K	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	345					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGGTAGGTTTCATCCTTGCGC	0.572000														37			30		0	0	0.002836	0	0
IGSF21	84966	broad.mit.edu	37	1	18618479	18618479	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:18618479G>A	uc001bau.2	+	2	686	c.303G>A	c.(301-303)gtG>gtA	p.V101V		NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	101	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		AGTCCACTGTGAGGTGAGTGC	0.597000														81			39		0	0	0.003610	0	0
MYH1	4619	broad.mit.edu	37	17	10412965	10412965	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10412965C>T	uc002gmo.3	-	14	1518	c.1424G>A	c.(1423-1425)aGc>aAc	p.S475N	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	475	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGCTCCAGGCTGTTGAACTA	0.398000														28			30		0	0	0.002096	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297758	139297758	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:139297758C>T	uc003etj.3	-	1	289	c.249G>A	c.(247-249)tgG>tgA	p.W83*	NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Nonsense_Mutation_p.W46*|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	83					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						GCTCACTCTCCCAAGGGTCCA	0.592000														22			17		0	0	0.006122	0	0
SLC25A16	8034	broad.mit.edu	37	10	70248224	70248224	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:70248224G>A	uc001joi.3	-	7	921	c.773_splice	c.e7+1	p.S258_splice	SLC25A16_uc010qiy.2_Splice_Site_p.S160_splice|SLC25A16_uc001joj.3_Splice_Site_p.S160_splice	NM_152707	NP_689920	P16260	GDC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16 (SLC25A16), nuclear gene encoding mitochondrial protein, mRNA.	258					coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						AGAAACTTACGATATTGTCTG	0.318000														12			4		0	0	0.009096	0	0
GUCA1A	2978	broad.mit.edu	37	6	42147103	42147103	+	Missense_Mutation	SNP	G	A	A	rs137984482		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:42147103G>A	uc003orx.3	+	5	1213	c.568G>A	c.(568-570)Gag>Aag	p.E190K	GUCA1A_uc011duo.2_Non-coding_Transcript|GUCA1A_uc010jxt.3_Missense_Mutation_p.E190K	NM_000409	NP_000400	P43080	GUC1A_HUMAN	Homo sapiens guanylate cyclase activator 1A (retina) (GUCA1A), mRNA.	190					signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGAGCAAGACGAGGAGGGGGC	0.642000														9			5		0	0	0.000602	0	0
DIAPH1	1729	broad.mit.edu	37	5	140954622	140954623	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140954622_140954623CC>TT	uc003llb.4	-	14	1693_1694	c.1552_1553GG>AA	c.(1552-1554)gga>AAa	p.G518K	DIAPH1_uc003llc.4_Missense_Mutation_p.G509K|DIAPH1_uc021yep.1_Missense_Mutation_p.G518K|DIAPH1_uc021yeq.1_Missense_Mutation_p.G509K|DIAPH1_uc010jgc.1_5'Flank	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	518					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTTTTTCTCCCTGAAGATCT	0.460000														35			10		0	0	0.004672	0	0
PHKG2	5261	broad.mit.edu	37	16	30762575	30762575	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:30762575C>T	uc002dzk.2	+	2	454	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	PHKG2_uc021tgo.1_Missense_Mutation_p.R82C|PHKG2_uc002dzl.1_Missense_Mutation_p.R82C	NM_000294	NP_000285	P15735	PHKG2_HUMAN	Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA.	82	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)|skin(1)	2			Colorectal(24;0.198)			ACACATCCTTCGCCAGGTCGC	0.622000														24			20		0	0	0.002299	0	0
PCLO	27445	broad.mit.edu	37	7	82763974	82763974	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82763974C>T	uc003uhx.2	-	2	3181	c.2892G>A	c.(2890-2892)atG>atA	p.M964I	PCLO_uc003uhv.2_Missense_Mutation_p.M964I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	910	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						GGGCTTGTTTCATTGGGGCCC	0.507000														20			12		0	0	0.006122	0	0
OR5T1	390155	broad.mit.edu	37	11	56043514	56043514	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56043514C>T	uc001nio.1	+	0	400	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R134S(2)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GGCTTATGATCGCTATGTAGC	0.413000														113			40		0	0	0.002522	0	0
ACOXL	55289	broad.mit.edu	37	2	111691088	111691088	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:111691088G>A	uc010yxk.1	+	11	1152	c.928G>A	c.(928-930)Gag>Aag	p.E310K	ACOXL_uc021vmm.1_Missense_Mutation_p.E133K|ACOXL_uc021vmn.1_Missense_Mutation_p.E133K	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	310					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CCTCCTGGATGAGGATGTCTT	0.577000														43			14		0	0	0.001855	0	0
PDE11A	50940	broad.mit.edu	37	2	178936771	178936771	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:178936771G>A	uc002ulq.3	-	0	712	c.394C>T	c.(394-396)Cac>Tac	p.H132Y	PDE11A_uc002ulr.3_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	132					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CTGTTCACGTGGATGGCCTTG	0.617000									Primary Pigmented Nodular Adrenocortical Disease, Familial					66			20		0	0	0.002299	0	0
PDE11A	50940	broad.mit.edu	37	2	178936631	178936631	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:178936631C>T	uc002ulq.3	-	0	852	c.534G>A	c.(532-534)tcG>tcA	p.S178S	PDE11A_uc002ulr.3_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	178					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GATTCACTCTCGATTCCAGCA	0.532000									Primary Pigmented Nodular Adrenocortical Disease, Familial					42			18		0	0	0.007413	0	0
DCDC1	341019	broad.mit.edu	37	11	31312362	31312362	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:31312362C>T	uc001msv.3	-	6	1030	c.792G>A	c.(790-792)atG>atA	p.M264I	DCDC5_uc001msu.2_Intron	NM_181807	NP_861523	P59894	DCDC1_HUMAN	Homo sapiens doublecortin domain containing 1 (DCDC1), mRNA.	264					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TCAACCCATTCATTGTCCAAG	0.338000														29			15		0	0	0.007413	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998043	27998043	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:27998043G>A	uc004dbx.1	-	0	1524	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	470										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						GATGATCTGGGAGGATGATTT	0.493000														4			5		0	0	0.000602	0	0
ELFN2	114794	broad.mit.edu	37	22	37770345	37770345	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:37770345G>A	uc003asq.4	-	2	2016	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	ELFN2_uc021wph.1_Silent_p.I410I	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	410						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CTCCCAGCACGATAACCATGC	0.612000														60			15		0	0	0.006122	0	0
IRF6	3664	broad.mit.edu	37	1	209961934	209961934	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:209961934C>T	uc001hhq.2	-	8	1539	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	IRF6_uc010psm.2_Missense_Mutation_p.R317Q	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	412					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		ATCAAAGGATCGTGTGAAATC	0.488000										HNSCC(57;0.16)				50			9		0	0	0.008291	0	0
NLRP2	55655	broad.mit.edu	37	19	55492998	55492998	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55492998G>A	uc021vbq.1	+	4	522	c.411G>A	c.(409-411)acG>acA	p.T137T	NLRP2_uc010yfp.2_Silent_p.T114T|NLRP2_uc002qij.3_Silent_p.T137T|NLRP2_uc010esp.3_Intron|NLRP2_uc010esn.3_Silent_p.T113T|NLRP2_uc010eso.3_Silent_p.T134T	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	137					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TTACAGAAACGAAAGGAAATG	0.413000														49			24		0	0	0.003954	0	0
OR6K6	128371	broad.mit.edu	37	1	158725001	158725001	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158725001C>T	uc001fsw.1	+	0	396	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TGTACTTTTTCCACTCACTTG	0.493000														56			14		0	0	0.002450	0	0
NLRP12	91662	broad.mit.edu	37	19	54307219	54307219	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:54307219G>A	uc002qcj.4	-	5	2795	c.2575C>T	c.(2575-2577)Cta>Tta	p.L859L	NLRP12_uc010eqw.3_Silent_p.L141L|NLRP12_uc002qch.4_Silent_p.L858L|NLRP12_uc002qci.4_Silent_p.L858L|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.L859L	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	858					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AAAGTCCGTAGTCTGCAGACT	0.483000														44			8		0	0	0.004482	0	0
UBE4A	9354	broad.mit.edu	37	11	118243308	118243308	+	Silent	SNP	C	T	T	rs149631434	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:118243308C>T	uc001psw.3	+	5	783	c.648C>T	c.(646-648)acC>acT	p.T216T	UBE4A_uc001psv.3_Silent_p.T216T	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.	216					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTCTTCTCACCCCAGAGATCT	0.468000														47			5		0	0	0.000602	0	0
RECK	8434	broad.mit.edu	37	9	36108051	36108051	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:36108051T>C	uc003zyv.3	+	13	1741	c.1655T>C	c.(1654-1656)gTt>gCt	p.V552A	RECK_uc003zyw.3_Missense_Mutation_p.V424A|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	552						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GCAGGGGAAGTTGGTTGTTAT	0.423000														48			10		0	0	0.000978	0	0
KIF15	56992	broad.mit.edu	37	3	44852408	44852408	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:44852408G>A	uc003cnx.4	+	16	2191	c.2042G>A	c.(2041-2043)gGa>gAa	p.G681E	KIF15_uc010hiq.3_Missense_Mutation_p.G584E|KIF15_uc003cny.1_Missense_Mutation_p.G316E	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	681					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)		CCTGAAATGGGAAGCTTTGGC	0.383000														39			28		0	0	0.005443	0	0
P2RY12	64805	broad.mit.edu	37	3	151056296	151056296	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:151056296G>A	uc003eyw.1	-	1	554	c.338C>T	c.(337-339)tCa>tTa	p.S113L	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Missense_Mutation_p.S113L|P2RY12_uc021xga.1_Missense_Mutation_p.S113L	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 12 (P2RY12), transcript variant 2, mRNA.	113					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	TCCCAGGAATGAAATACTGAT	0.403000														62			15		0	0	0.003163	0	0
ADH1B	125	broad.mit.edu	37	4	100239334	100239334	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:100239334G>A	uc003hus.4	-	2	212	c.128C>T	c.(127-129)gCt>gTt	p.A43V	ADH1B_uc003hut.4_Missense_Mutation_p.A3V|ADH1B_uc011ceh.2_5'UTR|ADH1B_uc011cei.1_Missense_Mutation_p.A3V	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	43					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)	GATTCCTACAGCCACCATCTA	0.438000														39			32		0	0	0.003271	0	0
COPA	1314	broad.mit.edu	37	1	160263246	160263246	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:160263246G>A	uc001fvv.4	-	25	3105	c.2711C>T	c.(2710-2712)tCc>tTc	p.S904F	COPA_uc009wti.3_Missense_Mutation_p.S895F	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	895					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCCCCAGGGGATATATCCTA	0.473000														10			7		0	0	0.001984	0	0
DEPDC5	9681	broad.mit.edu	37	22	32215147	32215147	+	Silent	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:32215147T>A	uc011alu.2	+	21	2008	c.1806T>A	c.(1804-1806)gcT>gcA	p.A602A	DEPDC5_uc011als.2_Silent_p.A602A|DEPDC5_uc003als.3_Silent_p.A602A|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.A602A|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Silent_p.A42A|DEPDC5_uc011alt.2_Silent_p.A574A	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	602					intracellular signal transduction			p.F601F(2)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACCCCTTCGCTCCCTCTCGGA	0.547000														38			37		0	0	0.007835	0	0
C17orf57	124989	broad.mit.edu	37	17	45422425	45422425	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:45422425G>A	uc002iln.3	+	7	909	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	C17orf57_uc002ilm.3_Missense_Mutation_p.E160K|C17orf57_uc002ill.1_Missense_Mutation_p.E12K|C17orf57_uc010daz.1_Missense_Mutation_p.E160K	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	160							calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						ATTATATGATGAAGTAACCCA	0.318000														49			71		0	0	0.003610	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110471922	110471922	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:110471922G>A	uc003yne.3	+	46	7207	c.7103G>A	c.(7102-7104)gGa>gAa	p.G2368E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2368					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACACACTTAGGAATTACGGTC	0.373000										HNSCC(38;0.096)				12			3		0	0	0.004672	0	0
CADPS	8618	broad.mit.edu	37	3	62464011	62464011	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:62464011T>C	uc003dll.2	-	22	3614	c.3254A>G	c.(3253-3255)gAa>gGa	p.E1085G	CADPS_uc003dlj.1_Missense_Mutation_p.E35G|CADPS_uc003dlk.1_Missense_Mutation_p.E533G|CADPS_uc003dlm.2_Missense_Mutation_p.E1046G|CADPS_uc003dln.2_Missense_Mutation_p.E1006G|CADPS_uc021wzv.1_Missense_Mutation_p.E1076G	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1085	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AAACTCTTCTTCAGGCCAGTG	0.473000														68			10		0	0	0.008291	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117400742	117400742	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:117400742C>T	uc003vjf.3	-	9	3011	c.2919G>A	c.(2917-2919)agG>agA	p.R973R		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	973										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCACTGAAATCCTTAAGGGTA	0.328000														52			12		0	0	0.001368	0	0
VCAN	1462	broad.mit.edu	37	5	82850796	82850796	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:82850796G>A	uc003kii.3	+	11	10030	c.9674G>A	c.(9673-9675)tGg>tAg	p.W3225*	VCAN_uc003kij.3_Nonsense_Mutation_p.W2238*|VCAN_uc010jau.2_Nonsense_Mutation_p.W1471*|VCAN_uc003kik.3_Nonsense_Mutation_p.W484*|VCAN_uc003kil.3_Nonsense_Mutation_p.W1889*	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	3225	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GATTATCAGTGGATAGGCCTC	0.388000														30			8		0	0	0.008291	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291223	141291223	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:141291223C>T	uc022cfj.1	-	0	551	c.551G>A	c.(550-552)aGa>aAa	p.R184K	MAGEC2_uc004fbu.2_Missense_Mutation_p.R184K	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	184	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CTCACGGGCTCTCTTGAGTAT	0.483000										HNSCC(46;0.14)				40			71		0	0	0.003610	0	0
EHD3	30845	broad.mit.edu	37	2	31483545	31483545	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:31483545C>T	uc002rnu.3	+	3	1280	c.672C>T	c.(670-672)atC>atT	p.I224I	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	224					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CTGACCAGATCGAGACGCAGC	0.552000														19			11		0	0	0.000978	0	0
NLRP12	91662	broad.mit.edu	37	19	54312891	54312891	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:54312891C>T	uc002qcj.4	-	2	2242	c.2022G>A	c.(2020-2022)ggG>ggA	p.G674G	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.G674G|NLRP12_uc002qci.4_Silent_p.G674G|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.G674G	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	674					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.G674W(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CGCGGTCTTCCCCGTCCGCGC	0.612000														27			13		0	0	0.001368	0	0
SMC5	23137	broad.mit.edu	37	9	72930412	72930412	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:72930412C>T	uc004ahr.2	+	12	1841	c.1724C>T	c.(1723-1725)cCt>cTt	p.P575L		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA.	575	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GCACCTGATCCTGTAATGAGT	0.323000														21			6		0	0	0.001168	0	0
DAOA	267012	broad.mit.edu	37	13	106142276	106142276	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:106142276G>A	uc001vqb.3	+	3	582	c.308G>A	c.(307-309)gGa>gAa	p.G103E	DAOA-AS1_uc021rmh.1_Non-coding_Transcript|DAOA_uc010tjf.2_Missense_Mutation_p.G32E|DAOA_uc001vpz.3_Non-coding_Transcript|DAOA_uc010agd.3_Non-coding_Transcript|DAOA_uc010tjg.2_Missense_Mutation_p.G75E|DAOA_uc001vqc.3_Non-coding_Transcript|DAOA_uc001vqe.3_Non-coding_Transcript	NM_172370	NP_001155286	P59103	DAOA_HUMAN	Homo sapiens D-amino acid oxidase activator (DAOA), transcript variant 1, mRNA.	103						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)					agccatgttggaaaagtcttc	0.498000														25			4		0	0	0.009096	0	0
PKP1	5317	broad.mit.edu	37	1	201297943	201297943	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:201297943G>A	uc001gwd.3	+	13	2474	c.2223G>A	c.(2221-2223)agG>agA	p.R741R	PKP1_uc001gwe.3_Silent_p.R720R|PKP1_uc009wzm.3_Silent_p.R328R	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	741					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						ACAGCCTCAGGAACTTCACCT	0.522000														126			59		0	0	0.003610	0	0
PRKACG	5568	broad.mit.edu	37	9	71628844	71628844	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:71628844G>A	uc004agy.3	-	0	196	c.165C>T	c.(163-165)ttC>ttT	p.F55F		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	55	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TCACCCGCCCGAAGGAGCCCA	0.592000														52			10		0	0	0.008291	0	0
VLDLR	7436	broad.mit.edu	37	9	2648285	2648285	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:2648285C>T	uc003zhk.1	+	12	2297	c.1900C>T	c.(1900-1902)Cgt>Tgt	p.R634C	VLDLR_uc003zhl.1_Missense_Mutation_p.R634C|VLDLR_uc003zhm.1_Non-coding_Transcript	NM_003383	NP_003374	P98155	VLDLR_HUMAN	Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.	634					cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TGGCCAAGATCGTAGGATAGT	0.408000														39			40		0	0	0.007835	0	0
HYDIN	54768	broad.mit.edu	37	16	70908764	70908764	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:70908764G>A	uc002ezr.3	-	62	10764	c.10613C>T	c.(10612-10614)aCc>aTc	p.T3538I		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3539										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)				GATATACGCGGTGGTGGGCCT	0.502000														11			7		0	0	0.003080	0	0
TSHR	7253	broad.mit.edu	37	14	81609650	81609650	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:81609650C>T	uc001xvd.1	+	9	1404	c.1248C>T	c.(1246-1248)ttC>ttT	p.F416F		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	416					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GCTACAAGTTCCTGAGAATTG	0.502000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							113			18		0	0	0.001882	0	0
BC034929	0	broad.mit.edu	37	19	55703169	55703169	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55703169C>T	uc002qjr.3	+	1	271	c.253C>T	c.(253-255)Caa>Taa	p.Q85*	PTPRH_uc010esv.3_Intron|PTPRH_uc002qjq.3_Intron					Homo sapiens, clone IMAGE:4553293, mRNA.																		CATCTGTCTCCAACCCTGCCC	0.587000														32			4		0	0	0.009096	0	0
DNAH5	1767	broad.mit.edu	37	5	13793772	13793772	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:13793772C>T	uc003jfd.2	-	48	8118	c.8076G>A	c.(8074-8076)ggG>ggA	p.G2692G		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2692	AAA 3 (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)					TGGTGAACTCCCCAGGCTTCT	0.443000									Kartagener syndrome					71			14		0	0	0.001855	0	0
THEG	51298	broad.mit.edu	37	19	375875	375875	+	Silent	SNP	G	A	A	rs143456454		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:375875G>A	uc002lol.3	-	0	139	c.96C>T	c.(94-96)ctC>ctT	p.L32L	THEG_uc002lom.3_Silent_p.L32L	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	32					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-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)		CAGAGCTCTGGAGGCCACGGG	0.662000														31			12		0	0	0.001368	0	0
PLCB4	5332	broad.mit.edu	37	20	9318655	9318655	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:9318655G>A	uc021wam.1	+	3	181	c.166_splice	c.e3-1	p.E56_splice	PLCB4_uc010gbw.1_Splice_Site_p.E56_splice|PLCB4_uc010gbx.3_Splice_Site_p.E56_splice|PLCB4_uc021wal.1_Splice_Site_p.E56_splice	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	56					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CTCTCTTCAGGAAGGACAGGT	0.428000														19			17		0	0	0.004007	0	0
PLEC	5339	broad.mit.edu	37	8	144996879	144996879	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:144996879G>A	uc003zaf.1	-	30	7799	c.7629C>T	c.(7627-7629)ttC>ttT	p.F2543F	PLEC_uc003zab.1_Silent_p.F2406F|PLEC_uc003zac.1_Silent_p.F2410F|PLEC_uc003zad.2_Silent_p.F2406F|PLEC_uc003zae.1_Silent_p.F2374F|PLEC_uc003zag.1_Silent_p.F2384F|PLEC_uc003zah.2_Silent_p.F2392F|PLEC_uc003zaj.2_Silent_p.F2433F	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2543	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTGCTTCCGGAAGCGCTGGG	0.677000														12			8		0	0	0.003080	0	0
PTPRB	5787	broad.mit.edu	37	12	70954499	70954499	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:70954499T>C	uc001swb.4	-	14	3760	c.3730A>G	c.(3730-3732)Act>Gct	p.T1244A	PTPRB_uc010sto.2_Missense_Mutation_p.T1154A|PTPRB_uc010stp.2_Missense_Mutation_p.T1154A|PTPRB_uc001swc.4_Missense_Mutation_p.T1462A|PTPRB_uc001swa.4_Missense_Mutation_p.T1374A|PTPRB_uc001swd.4_Missense_Mutation_p.T1461A|PTPRB_uc009zrr.2_Missense_Mutation_p.T1341A	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1244	Fibronectin type-III 14.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCACTGTGAGTTACCACCCAC	0.527000														9			29		0	0	0.002445	0	0
DOCK2	1794	broad.mit.edu	37	5	169474608	169474608	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:169474608C>T	uc003maf.3	+	39	4141	c.4061C>T	c.(4060-4062)tCc>tTc	p.S1354F	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.S846F	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1354	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGATTCCCCTCCTTCCTGCGG	0.532000														21			11		0	0	0.000978	0	0
MUC6	4588	broad.mit.edu	37	11	1016871	1016872	+	Missense_Mutation	DNP	GG	AA	AA	rs71472140		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:1016871_1016872GG>AA	uc001lsw.2	-	30	5980_5981	c.5929_5930CC>TT	c.(5929-5931)ccc>TTc	p.P1977F		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1977	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.S1976I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAAGAGAAGGGACTGCTCCCT	0.589000														635			41		0	0	0.004672	0	0
CLTCL1	8218	broad.mit.edu	37	22	19203732	19203732	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:19203732G>A	uc021wle.1	-	18	3029	c.2954C>T	c.(2953-2955)cCt>cTt	p.P985L	CLTCL1_uc021wld.1_Missense_Mutation_p.P985L|CLTCL1_uc021wlc.1_Missense_Mutation_p.P985L|CLTCL1_uc021wlf.1_Missense_Mutation_p.P985L|CLTCL1_uc011agw.1_Missense_Mutation_p.P985L|CLTCL1_uc002zpd.1_5'Flank|CLTCL1_uc002zpe.2_5'Flank	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	985	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AATCTCTTCAGGATCCCGTGT	0.403000			T	?	ALCL									30			19		0	0	0.008871	0	0
FOXR2	139628	broad.mit.edu	37	X	55650865	55650865	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:55650865C>T	uc004duo.3	+	0	1033	c.721C>T	c.(721-723)Cat>Tat	p.H241Y		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	241					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						GAGCACCATTCATTACAACCT	0.507000														9			30		0	0	0.002836	0	0
NEB	4703	broad.mit.edu	37	2	152527697	152527697	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:152527697C>T	uc021vrb.1	-	35	4375	c.4346G>A	c.(4345-4347)tGg>tAg	p.W1449*	NEB_uc002txu.3_Nonsense_Mutation_p.W1449*|NEB_uc021vrc.1_Nonsense_Mutation_p.W1449*|NEB_uc010fnx.3_Nonsense_Mutation_p.W1449*|NEB_uc021vrd.1_Nonsense_Mutation_p.W1449*	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1449					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	p.G1448R(1)		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)		AATAGGGATCCATCCGATGCC	0.443000														18			9		0	0	0.008291	0	0
PVRL4	81607	broad.mit.edu	37	1	161044424	161044424	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:161044424G>A	uc001fxo.2	-	4	1276	c.977C>T	c.(976-978)tCt>tTt	p.S326F	PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_Missense_Mutation_p.S60F	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	326	Ig-like C2-type 2.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGTGACCTGAGAATCCCTTGA	0.557000														43			35		0	0	0.007835	0	0
HEATR8	374977	broad.mit.edu	37	1	55174728	55174728	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:55174728C>T	uc010ooe.1	+	22	4033	c.3709C>T	c.(3709-3711)Cgt>Tgt	p.R1237C	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ood.1_Missense_Mutation_p.R755C|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.R438C	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1237						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GACAGAAGATCGTCTGAATGA	0.517000														76			30		0	0	0.002445	0	0
CPPED1	55313	broad.mit.edu	37	16	12758832	12758832	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:12758832C>T	uc002dca.4	-	3	967	c.856G>A	c.(856-858)Gag>Aag	p.E286K	CPPED1_uc002dcb.4_Missense_Mutation_p.E144K	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA.	286							hydrolase activity|metal ion binding	p.A285T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						ACAATTTTCTCGGCGGTGACC	0.527000														62			7		0	0	0.001984	0	0
LRIT3	345193	broad.mit.edu	37	4	110791074	110791074	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:110791074C>T	uc003hzx.4	+	2	1227	c.1034C>T	c.(1033-1035)tCc>tTc	p.S345F	LRIT3_uc003hzw.4_Missense_Mutation_p.S207F	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	345	Ser-rich.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TGGtcctcttccttctccccc	0.463000														58			18		0	0	0.006122	0	0
CDCP1	64866	broad.mit.edu	37	3	45127460	45127460	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:45127460C>T	uc003com.3	-	8	2316	c.2181G>A	c.(2179-2181)aaG>aaA	p.K727K		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	727						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AGTCATTGTCCTTTCGCCCTT	0.502000														198			32		0	0	0.004878	0	0
SATB1	6304	broad.mit.edu	37	3	18393507	18393508	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:18393507_18393508GG>AA	uc003cbh.3	-	9	3490_3491	c.1755_1756CC>TT	c.(1753-1758)atccat>atTTat	p.H586Y	SATB1_uc003cbi.3_Missense_Mutation_p.H586Y|SATB1_uc003cbj.3_Missense_Mutation_p.H586Y	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	586					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCTGGAACATGGATAATGTGGG	0.465000														87			37		0	0	0.004672	0	0
OR8U8	504189	broad.mit.edu	37	11	56143975	56143975	+	Silent	SNP	C	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56143975C>G	uc001nit.2	+	0	876	c.876C>G	c.(874-876)ctC>ctG	p.L292L		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										TCTATAGCCTCCAGAATAAGG	0.373000														93			30		0	0	0.006230	0	0
DSG4	147409	broad.mit.edu	37	18	28991347	28991347	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:28991347G>A	uc002kwr.2	+	13	2483	c.2348G>A	c.(2347-2349)gGa>gAa	p.G783E	DSG4_uc002kwq.2_Missense_Mutation_p.G764E	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	764					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCTACCATGGGAACCCTGCGG	0.582000														28			14		0	0	0.001855	0	0
SORCS3	22986	broad.mit.edu	37	10	106865209	106865209	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:106865209G>A	uc001kyi.1	+	6	1375	c.1148G>A	c.(1147-1149)gGg>gAg	p.G383E		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	383						integral to membrane	neuropeptide receptor activity	p.G383W(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ACTAGAAGTGGGCCTTTTGCC	0.473000														42			21		0	0	0.001882	0	0
SCGN	10590	broad.mit.edu	37	6	25701508	25701508	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:25701508G>A	uc003nfb.3	+	10	979	c.776G>A	c.(775-777)gGa>gAa	p.G259E	SCGN_uc010jpz.3_Missense_Mutation_p.G150E	NM_006998	NP_008929	O76038	SEGN_HUMAN	Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA.	259	EF-hand 6.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AACAAGGATGGAAAAATTCAG	0.473000														41			22		0	0	0.001882	0	0
C12orf53	196500	broad.mit.edu	37	12	6804782	6804782	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:6804782C>T	uc021quc.1	-	4	980	c.641G>A	c.(640-642)gGg>gAg	p.G214E	C12orf53_uc001qqf.2_Missense_Mutation_p.G214E|C12orf53_uc001qqg.2_Missense_Mutation_p.G214E	NM_001244015	NP_001230944	Q8IYJ0	CL053_HUMAN	Homo sapiens chromosome 12 open reading frame 53 (C12orf53), transcript variant 3, mRNA.	214						integral to membrane				kidney(2)|large_intestine(1)|lung(3)	6						ACCTTGCTGCCCTGAGGGTCT	0.647000														46			55		0	0	0.003610	0	0
RGS22	26166	broad.mit.edu	37	8	101083607	101083607	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:101083607G>A	uc003yjb.1	-	5	779	c.584C>T	c.(583-585)tCa>tTa	p.S195L	RGS22_uc003yja.1_Intron|RGS22_uc003yjc.1_Intron|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.S99L	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	195					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.V194A(1)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTCACCAAGTGATACATAGAA	0.338000														39			12		0	0	0.001368	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879862	3879862	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:3879862G>A	uc002kmf.3	-	3	734	c.207C>T	c.(205-207)acC>acT	p.T69T	DLGAP1_uc010wyz.2_Silent_p.T69T|DLGAP1_uc002kmk.2_Silent_p.T69T|LOC201477_uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	69					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				TGCGGGGGAAGGTGCTGCTGG	0.677000														53			11		0	0	0.008291	0	0
DCC	1630	broad.mit.edu	37	18	50592432	50592432	+	Missense_Mutation	SNP	G	A	A	rs140711456	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:50592432G>A	uc002lfe.2	+	6	1773	c.1157G>A	c.(1156-1158)cGg>cAg	p.R386Q	DCC_uc010xdr.1_Missense_Mutation_p.R234Q|DCC_uc010dpf.2_Missense_Mutation_p.R41Q	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	386	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R386Q(2)		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)		AGCAACTTACGGATACTTGGG	0.418000														70			27		0	0	0.006320	0	0
KEL	3792	broad.mit.edu	37	7	142650976	142650977	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142650976_142650977GG>AA	uc003wcb.3	-	8	1201_1202	c.991_992CC>TT	c.(991-993)cct>TTt	p.P331F		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	331					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGACTGAGAAGGGCTCAGGGAC	0.540000														91			45		0	0	0.004672	0	0
OR6C68	403284	broad.mit.edu	37	12	55886866	55886866	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:55886866C>T	uc010spo.2	+	0	720	c.720C>T	c.(718-720)gcC>gcT	p.A240A		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						AGAAAAAAGCCTTTTCTACCT	0.333000														14			13		0	0	0.001368	0	0
RXFP2	122042	broad.mit.edu	37	13	32367143	32367143	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:32367143G>A	uc001utt.3	+	15	1775	c.1704G>A	c.(1702-1704)ggG>ggA	p.G568G	RXFP2_uc010aba.3_Silent_p.G544G	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	568						integral to membrane|plasma membrane		p.G568W(1)|p.Y567Y(1)		cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ACTTTTATGGGAAAAATGGAG	0.343000														22			12		0	0	0.001855	0	0
RBMXL1	494115	broad.mit.edu	37	1	89449212	89449212	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:89449212G>A	uc021opo.1	-	0	298	c.298C>T	c.(298-300)Cca>Tca	p.P100S	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.P100S|RBMXL1_uc001dms.3_Missense_Mutation_p.P100S	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	100							RNA binding|nucleotide binding										CTACTTCTTGGAGGTGGGGGC	0.512000														64			33		0	0	0.002445	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519874	113519874	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:113519874C>T	uc010ljy.1	-	3	1304	c.1273G>A	c.(1273-1275)Gat>Aat	p.D425N		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	425					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACTAGTTCATCACTACTAGTA	0.423000														53			38		0	0	0.005524	0	0
HPS1	3257	broad.mit.edu	37	10	100183637	100183637	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:100183637G>A	uc021pwv.1	-	14	1651	c.1405C>T	c.(1405-1407)Cag>Tag	p.Q469*	HPS1_uc010qpg.2_Nonsense_Mutation_p.Q89*|HPS1_uc009xwb.3_Non-coding_Transcript	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA.	469					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CCACATGCCTGGAGCAGCCTG	0.642000									Hermansky-Pudlak syndrome					24			5		0	0	0.001168	0	0
WFDC10B	280664	broad.mit.edu	37	20	44333195	44333195	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:44333195G>A	uc002xpc.3	-	1	108	c.80C>T	c.(79-81)tCc>tTc	p.S27F	WFDC10B_uc002xpb.3_5'UTR|WFDC13_uc002xpd.3_Silent_p.G67G	NM_172131	NP_742143	Q8IUB3	WF10B_HUMAN	Homo sapiens WAP four-disulfide core domain 10B (WFDC10B), transcript variant 2, mRNA.	0						extracellular region	peptidase inhibitor activity			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				CCTTCTGTGGGATAGTCTGTT	0.473000														49			26		0	0	0.004656	0	0
CADPS2	93664	broad.mit.edu	37	7	122033545	122033545	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:122033545G>A	uc022akp.1	-	19	3260	c.2838C>T	c.(2836-2838)atC>atT	p.I946I	CADPS2_uc003vkg.4_Silent_p.I640I|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Silent_p.I940I|CADPS2_uc022akr.1_Silent_p.I946I	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	946	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TTGACTGGGCGATGGAAGACT	0.458000														61			31		0	0	0.009535	0	0
KCNB2	9312	broad.mit.edu	37	8	73849256	73849256	+	Missense_Mutation	SNP	C	T	T	rs144823279		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:73849256C>T	uc003xzb.3	+	2	2254	c.1666C>T	c.(1666-1668)Cca>Tca	p.P556S		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	556					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCATTCTCACCCAAACCCAGA	0.512000														44			15		0	0	0.004990	0	0
MED12L	116931	broad.mit.edu	37	3	151073805	151073805	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:151073805G>A	uc003eyp.3	+	16	2663	c.2534G>A	c.(2533-2535)gGa>gAa	p.G845E	MED12L_uc011bnz.2_Missense_Mutation_p.G705E|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.G9E	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	845					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)			AACATCAACGGACTAATTGAC	0.428000														27			12		0	0	0.001368	0	0
CABYR	26256	broad.mit.edu	37	18	21736228	21736228	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:21736228G>A	uc002kux.3	+	3	915	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	CABYR_uc021uig.1_Intron|CABYR_uc010xbb.1_Missense_Mutation_p.E157K|CABYR_uc002kuy.3_Intron|CABYR_uc002kuz.3_Intron|CABYR_uc002kva.3_Missense_Mutation_p.E237K|CABYR_uc002kvb.3_Intron|CABYR_uc002kvc.3_Intron|CABYR_uc010dlw.3_Non-coding_Transcript	NM_012189	NP_036321	O75952	CABYR_HUMAN	Homo sapiens calcium binding tyrosine-(Y)-phosphorylation regulated (CABYR), transcript variant 1, mRNA.	255					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	SH3 domain binding|cAMP-dependent protein kinase regulator activity|calcium ion binding|enzyme binding|protein heterodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					AAATGAGGCTGAACCATCAAC	0.463000														16			8		0	0	0.003080	0	0
ASB11	140456	broad.mit.edu	37	X	15311353	15311353	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:15311353G>A	uc004cwp.2	-	3	478	c.459C>T	c.(457-459)ttC>ttT	p.F153F	ASB11_uc004cwo.2_Silent_p.F132F|ASB11_uc010net.2_Silent_p.F136F|ASB11_uc010nes.2_Non-coding_Transcript	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 11 (ASB11), transcript variant 1, mRNA.	153					intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					CCTTGGCTCCGAACTCCAGCA	0.552000														68			49		0	0	0.003610	0	0
ACE	1636	broad.mit.edu	37	17	61564035	61564035	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:61564035G>A	uc002jau.2	+	13	2210	c.2176G>A	c.(2176-2178)Gac>Aac	p.D726N	ACE_uc010wpj.2_Missense_Mutation_p.D152N|ACE_uc010ddv.2_5'UTR|ACE_uc002jav.2_Missense_Mutation_p.D152N|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.D36N	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	726	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GAAGGTTCAGGACCTAGAACG	0.567000														11			23		0	0	0.004656	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171359	207171359	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:207171359C>T	uc002vbp.2	+	4	2357	c.2107C>T	c.(2107-2109)Cgt>Tgt	p.R703C		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	703							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						TCAGTCTAGCCGTTCTTCTCT	0.408000														21			15		0	0	0.002450	0	0
POPDC3	64208	broad.mit.edu	37	6	105606598	105606598	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:105606598C>T	uc003prb.3	-	3	1025	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	BVES-AS1_uc003pqz.3_Intron|POPDC3_uc003pra.3_Non-coding_Transcript	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	Homo sapiens popeye domain containing 3 (POPDC3), transcript variant 1, mRNA.	208						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				AGACACATATCGACAATCAGT	0.413000														172			20		0	0	0.008871	0	0
IVL	3713	broad.mit.edu	37	1	152883792	152883792	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152883792G>A	uc021ozl.1	+	0	1519	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	IVL_uc001fau.3_Missense_Mutation_p.E507K	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	507	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ggaacagcaggaaaagcacct	0.597000														3			3		0	0	0.004672	0	0
PZP	5858	broad.mit.edu	37	12	9303255	9303255	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:9303255C>T	uc001qvl.3	-	33	4398	c.4369G>A	c.(4369-4371)Gat>Aat	p.D1457N	PZP_uc009zgl.3_Missense_Mutation_p.D1243N	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCATAGTAATCATAGACTTTA	0.403000														20			20		0	0	0.001882	0	0
C14orf21	161424	broad.mit.edu	37	14	24771528	24771528	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:24771528C>T	uc001wol.1	+	4	1104	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L	C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.2_5'Flank|DHRS1_uc001wok.3_5'Flank	NM_174913	NP_777573	Q86U38	CN021_HUMAN	Homo sapiens chromosome 14 open reading frame 21 (C14orf21), mRNA.	347							RNA binding			breast(3)|central_nervous_system(2)|large_intestine(3)|liver(1)|lung(3)|prostate(2)|skin(3)	17				GBM - Glioblastoma multiforme(265;0.0185)		TCCAGAGCCTCTTTGAGGAGC	0.577000														86			27		0	0	0.004656	0	0
MYO1A	4640	broad.mit.edu	37	12	57423348	57423348	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:57423348C>T	uc001smw.4	-	25	2988	c.2748G>A	c.(2746-2748)ctG>ctA	p.L916L	MYO1A_uc010sqz.2_Silent_p.L754L|MYO1A_uc009zpd.3_Silent_p.L916L	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	916					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGCCCTTGGTCAGGAGGAGAA	0.552000														18			33		0	0	0.002445	0	0
WASL	8976	broad.mit.edu	37	7	123334784	123334784	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:123334784C>T	uc003vkz.3	-	7	1139	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K		NM_003941	NP_003932	O00401	WASL_HUMAN	Homo sapiens Wiskott-Aldrich syndrome-like (WASL), mRNA.	271					actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCCGCAGTTCATTTTTAACA	0.343000														65			14		0	0	0.001855	0	0
CSMD3	114788	broad.mit.edu	37	8	113871494	113871494	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:113871494C>T	uc003ynu.3	-	11	1793	c.1634_splice	c.e11-1	p.V545_splice	CSMD3_uc003ynt.3_Splice_Site_p.V505_splice|CSMD3_uc011lhx.2_Splice_Site_p.V441_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	545	Sushi 2.					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						CACACGTTTTCACTAAAAGAG	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				27			14		0	0	0.003163	0	0
NBPF22P	285622	broad.mit.edu	37	5	85578703	85578703	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:85578703G>A	uc003kiq.2	+	0	442	c.180G>A	c.(178-180)gaG>gaA	p.E60E						Homo sapiens neuroblastoma breakpoint family, member 22, pseudogene (NBPF22P), non-coding RNA.																		ACCTCAAAGAGAAATTCCTTA	0.453000														17			11		0	0	0.008291	0	0
CD1B	910	broad.mit.edu	37	1	158300776	158300776	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158300776G>A	uc001frx.3	-	1	246	c.138C>T	c.(136-138)ggC>ggT	p.G46G	CD1B_uc001frw.3_Silent_p.G46G|CD1B_uc010pic.1_Silent_p.G46G	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	46					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ACCAGCCTGAGCCTTGAGTTT	0.488000														164			96		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	22	22786696	22786696	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:22786696C>T	uc021wml.1	+	76		c.7727C>T			abParts_uc021wmm.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CTGACCGATTCTCTGGCTCCA	0.532000														71			32		0	0	0.009535	0	0
CASQ2	845	broad.mit.edu	37	1	116311110	116311110	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:116311110C>T	uc001efx.4	-	0	317	c.53G>A	c.(52-54)aGg>aAg	p.R18K	CASQ2_uc010owu.2_Missense_Mutation_p.R18K	NM_001232	NP_001223	O14958	CASQ2_HUMAN	Homo sapiens calsequestrin 2 (cardiac muscle) (CASQ2), nuclear gene encoding mitochondrial protein, mRNA.	18					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CTCTTCTGCCCTGCAAGAGGA	0.408000														27			20		0	0	0.007413	0	0
APOB	338	broad.mit.edu	37	2	21230801	21230801	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:21230801G>A	uc002red.3	-	25	9067	c.8939C>T	c.(8938-8940)tCc>tTc	p.S2980F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2980					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)	AAAGTTGAGGGAGCCAGATTC	0.428000														356			95		0	0	0.003610	0	0
TIAM1	7074	broad.mit.edu	37	21	32496913	32496913	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:32496913G>A	uc002yow.1	-	27	4705	c.4233C>T	c.(4231-4233)tcC>tcT	p.S1411S	TIAM1_uc011adk.1_Silent_p.S1411S|TIAM1_uc011adl.1_Silent_p.S1351S	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1411					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CATATTGCTGGGATGAGGGAA	0.542000														20			18		0	0	0.007413	0	0
OR10C1	442194	broad.mit.edu	37	6	29408591	29408592	+	Missense_Mutation	DNP	CC	TT	TT	rs150247833	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:29408591_29408592CC>TT	uc011dlp.2	+	0	876_877	c.799_800CC>TT	c.(799-801)ccg>TTg	p.P267L	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D266N(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CAGCTACGATCCGGCCACTGAC	0.569000														109			64		0	0	0.004672	0	0
C17orf28	283987	broad.mit.edu	37	17	72954523	72954523	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:72954523C>T	uc002jmj.4	-	10	1440	c.1291G>A	c.(1291-1293)Ggg>Agg	p.G431R	C17orf28_uc010wrs.2_Missense_Mutation_p.G230R	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	431						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					TTCCGCTCCCCGCTCAGAAGC	0.632000											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		6			3		0	0	0.004672	0	0
SRGAP3	9901	broad.mit.edu	37	3	9055023	9055023	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:9055023C>T	uc003brf.1	-	16	2792	c.2116G>A	c.(2116-2118)Gaa>Aaa	p.E706K	SRGAP3_uc003brg.1_Missense_Mutation_p.E682K	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	706					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		ATGCATTTTTCATACACAGGT	0.433000			T	RAF1	pilocytic astrocytoma									31			21		0	0	0.002299	0	0
KPRP	448834	broad.mit.edu	37	1	152732846	152732846	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152732846G>A	uc001fal.1	+	1	840	c.782G>A	c.(781-783)cGg>cAg	p.R261Q	KPRP_uc021ozf.1_Missense_Mutation_p.R261Q	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	261	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCTCGGCGGCTGCAGCTT	0.607000														49			9		0	0	0.004482	0	0
C15orf48	84419	broad.mit.edu	37	15	45723275	45723275	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:45723275C>T	uc001zvg.3	+	2	231	c.113C>T	c.(112-114)aCc>aTc	p.T38I	C15orf48_uc001zvh.3_Missense_Mutation_p.T38I|C15orf48_uc021skp.1_5'Flank	NM_197955	NP_922946	Q9C002	NMES1_HUMAN	Homo sapiens chromosome 15 open reading frame 48 (C15orf48), transcript variant 1, mRNA.	38						nucleus				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		CTTTGGAAAACCGATGTGATG	0.403000														80			33		0	0	0.002836	0	0
PREX1	57580	broad.mit.edu	37	20	47253040	47253040	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:47253040G>A	uc002xtw.1	-	31	4151	c.4128C>T	c.(4126-4128)gtC>gtT	p.V1376V	PREX1_uc002xtv.1_Silent_p.V673V	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	1376					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGTGCAGCAGGACGCCCGTGG	0.721000														10			6		0	0	0.004482	0	0
NMUR2	56923	broad.mit.edu	37	5	151784264	151784264	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:151784264G>A	uc003luv.2	-	0	577	c.411C>T	c.(409-411)atC>atT	p.I137I		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	137					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			TGACGGTGGTGATGCTGAGGA	0.627000														44			15		0	0	0.002450	0	0
TAL2	6887	broad.mit.edu	37	9	108424936	108424936	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:108424936C>T	uc004bct.3	+	0	199	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_005421	NP_005412	Q16559	TAL2_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 2 (TAL2), mRNA.	53	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										ATATCAACTTCTTGGTCAAGG	0.557000			T	TRB@	T-ALL									31			13		0	0	0.004007	0	0
AKR1D1	6718	broad.mit.edu	37	7	137790062	137790062	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:137790062G>A	uc003vtz.3	+	4	553	c.466G>A	c.(466-468)Gct>Act	p.A156T	AKR1D1_uc011kqd.1_Non-coding_Transcript|AKR1D1_uc011kqb.1_Missense_Mutation_p.A156T|AKR1D1_uc011kqc.1_Non-coding_Transcript|AKR1D1_uc011kqf.2_Intron|AKR1D1_uc011kqe.1_Missense_Mutation_p.A156T|AKR1D1_uc010lmy.1_Non-coding_Transcript	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	156					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						GGCGATGGAAGCTTGCAAAGA	0.463000														77			55		0	0	0.003610	0	0
PTPRT	11122	broad.mit.edu	37	20	40877449	40877449	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:40877449C>T	uc002xkg.3	-	13	2374	c.2190G>A	c.(2188-2190)caG>caA	p.Q730Q	PTPRT_uc010ggj.3_Silent_p.Q749Q	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	730					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGTTAGAATTCTGGGTGGAGG	0.502000														18			10		0	0	0.000978	0	0
IL18R1	8809	broad.mit.edu	37	2	102984491	102984491	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:102984491G>A	uc002tbw.4	+	2	415	c.265G>A	c.(265-267)Gag>Aag	p.E89K	IL18R1_uc010ywb.1_Missense_Mutation_p.E89K|IL18R1_uc010ywd.2_Intron|IL18R1_uc010fiy.3_Missense_Mutation_p.E89K|IL18R1_uc010ywc.2_Missense_Mutation_p.E89K	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	89	Ig-like C2-type 1.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTGGCCAGTTGAGTTGAATGA	0.418000														72			20		0	0	0.007413	0	0
SLC9A2	6549	broad.mit.edu	37	2	103236460	103236460	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:103236460C>T	uc002tca.3	+	0	295	c.153C>T	c.(151-153)agC>agT	p.S51S		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	51						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GCCCGCCTAGCCCTGCGAGCG	0.677000														7			9		0	0	0.006214	0	0
CSF1R	1436	broad.mit.edu	37	5	149449566	149449566	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:149449566C>T	uc003lrl.3	-	8	1575	c.1380G>A	c.(1378-1380)caG>caA	p.Q460Q	CSF1R_uc011dcd.2_Silent_p.Q312Q|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Silent_p.Q460Q	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	460	Ig-like C2-type 5.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.S459S(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGAAGGGCTCCTGGCTCAGGA	0.587000														27			11		0	0	0.000978	0	0
SLC46A3	283537	broad.mit.edu	37	13	29278211	29278211	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:29278211G>A	uc001usj.3	-	4	1712	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	SLC46A3_uc001usg.3_Silent_p.F315F|SLC46A3_uc001usi.3_Silent_p.F390F|SLC46A3_uc001ush.3_Silent_p.F390F	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	390					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		GTGTTTCTAAGAAAGCAATAC	0.413000														36			26		0	0	0.009535	0	0
FIBIN	387758	broad.mit.edu	37	11	27016391	27016391	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:27016391C>T	uc001mrd.3	+	0	764	c.318C>T	c.(316-318)tcC>tcT	p.S106S		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA.	106						Golgi apparatus|extracellular region				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						AAAGCATCTCCTACGACCTAG	0.632000														37			5		0	0	0.000602	0	0
NKAP	79576	broad.mit.edu	37	X	119068457	119068457	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:119068457G>A	uc004esh.3	-	5	904	c.737_splice	c.e5+1	p.S246_splice	NKAP_uc004esg.3_Splice_Site_p.S133_splice	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	Homo sapiens NFKB activating protein (NKAP), mRNA.	246	Lys-rich.|Necessary for interaction with CIR1.				Notch signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						AAAAACTGACGATCTGTGTTT	0.289000														4			15		0	0	0.002450	0	0
EPHA7	2045	broad.mit.edu	37	6	93967835	93967835	+	Missense_Mutation	SNP	C	T	T	rs138518092		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:93967835C>T	uc003poe.3	-	10	2333	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K	EPHA7_uc003pof.3_Missense_Mutation_p.E693K|EPHA7_uc011eac.2_Missense_Mutation_p.E694K	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	698	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ACAACCCCTTCCAAATGGACA	0.343000														32			12		0	0	0.000978	0	0
AK8	158067	broad.mit.edu	37	9	135704092	135704092	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:135704092G>A	uc004cbu.1	-	5	980	c.424C>T	c.(424-426)Cct>Tct	p.P142S	AK8_uc010mzx.1_Non-coding_Transcript|AK8_uc004cbv.1_5'UTR	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	Homo sapiens adenylate kinase 8 (AK8), mRNA.	142						cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						CGCGTCTCAGGGATGCCATCC	0.493000														17			3		0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9072251	9072251	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9072251G>A	uc002mkp.3	-	2	15399	c.15195C>T	c.(15193-15195)tcC>tcT	p.S5065S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5067	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S5065Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATAGGAGAGGAGAGCTTAT	0.478000														73			34		0	0	0.003755	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48511930	48511930	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:48511930C>T	uc002pht.3	+	1	184	c.6C>T	c.(4-6)acC>acT	p.T2T		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.	2				T -> N (in Ref. 1; CAC14267).	single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CCAAGATGACCCGATGGTCCA	0.468000														17			7		0	0	0.001984	0	0
CFHR5	81494	broad.mit.edu	37	1	196953159	196953159	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196953159G>A	uc001gts.4	+	2	450	c.322G>A	c.(322-324)Gat>Aat	p.D108N		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	108	Sushi 2.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCTGGAAGGTGATACTGTACA	0.378000														30			14		0	0	0.001855	0	0
PLXNC1	10154	broad.mit.edu	37	12	94642108	94642108	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:94642108C>T	uc001tdc.3	+	13	2947	c.2698C>T	c.(2698-2700)Caa>Taa	p.Q900*		NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	900					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						TACTAGAAATCAAGATCTTAC	0.373000														14			21		0	0	0.001882	0	0
HMCN1	83872	broad.mit.edu	37	1	186114634	186114634	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:186114634C>T	uc001grq.1	+	91	14595	c.14366C>T	c.(14365-14367)cCc>cTc	p.P4789L	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.P358L	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4789	TSP type-1 5.				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						AACCCTCCTCCCTCCAATGGG	0.577000														25			10		0	0	0.006214	0	0
CYP2F1	1572	broad.mit.edu	37	19	41627997	41627997	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:41627997C>T	uc002opu.1	+	5	837	c.781C>T	c.(781-783)Ccc>Tcc	p.P261S	CYP2F1_uc021uuv.1_Missense_Mutation_p.P47S|CYP2F1_uc010xvv.1_Missense_Mutation_p.P261S|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	261					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCCCAGATCTCCCCGGGACTT	0.587000														40			5		0	0	0.000602	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090671	91090671	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:91090671C>T	uc004efk.2	+	0	1013	c.168C>T	c.(166-168)tcC>tcT	p.S56S	PCDH11X_uc004efl.2_Silent_p.S56S|PCDH11X_uc010nmv.2_Silent_p.S56S|PCDH11X_uc004efm.2_Silent_p.S56S|PCDH11X_uc004efn.2_Silent_p.S56S|PCDH11X_uc004efo.2_Silent_p.S56S|PCDH11X_uc004efh.2_Silent_p.S56S|PCDH11X_uc004efj.1_Silent_p.S56S	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	56	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAAACAAGTCCTTGACAACTG	0.463000														27			12		0	0	0.000978	0	0
NYAP2	57624	broad.mit.edu	37	2	226447249	226447249	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:226447249G>A	uc002voe.2	+	3	1291	c.1116G>A	c.(1114-1116)atG>atA	p.M372I	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.M142I	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	372	Pro-rich.																TGTCTTACATGAAACAGCCAG	0.667000														3			7		0	0	0.004482	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964781	88964781	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:88964781G>A	uc011khi.2	+	3	3023	c.2485G>A	c.(2485-2487)Gat>Aat	p.D829N		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	829						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CATCTATTGTGATTCTAACTC	0.373000										HNSCC(36;0.09)				30			11		0	0	0.000978	0	0
SRPX2	27286	broad.mit.edu	37	X	99917354	99917354	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:99917354C>T	uc004egb.3	+	3	825	c.345C>T	c.(343-345)gcC>gcT	p.A115A		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	115	Sushi 1.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CTGGAACTGCCTACTGCAGGC	0.562000														26			54		0	0	0.003610	0	0
SLC14A2	8170	broad.mit.edu	37	18	43247946	43247946	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:43247946C>T	uc002lbe.3	+	13	2682	c.1866C>T	c.(1864-1866)acC>acT	p.T622T	SLC14A2_uc010dnj.3_Silent_p.T622T	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	622						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCTGGGTACCATCATGTCCA	0.562000														64			38		0	0	0.005524	0	0
PRLR	5618	broad.mit.edu	37	5	35066042	35066042	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:35066042G>A	uc003jjm.3	-	9	1577	c.1018C>T	c.(1018-1020)Ccc>Tcc	p.P340S	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.P239S|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	340					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGGTATGTGGGTTTCATACCT	0.498000														32			17		0	0	0.008871	0	0
FBXL12	54850	broad.mit.edu	37	19	9922366	9922366	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9922366G>A	uc002mme.3	-	2	429	c.187C>T	c.(187-189)Ctt>Ttt	p.L63F	FBXL12_uc002mmd.3_Missense_Mutation_p.L10F|FBXL12_uc002mmf.3_Missense_Mutation_p.L10F|FBXL12_uc002mmg.3_Missense_Mutation_p.L10F	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.	63			L -> H (found in a renal cell carcinoma case; somatic mutation).				protein binding	p.L63H(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						TACCTTCGAAGGAGGTGCCAC	0.592000														25			15		0	0	0.002450	0	0
PDCD11	22984	broad.mit.edu	37	10	105162877	105162877	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:105162877C>T	uc001kwy.1	+	3	324	c.237C>T	c.(235-237)tcC>tcT	p.S79S		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	79					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TCTTCTAGTCCCTGTGTGAGG	0.443000														91			34		0	0	0.003755	0	0
C11orf45	219833	broad.mit.edu	37	11	128774390	128774390	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:128774390G>A	uc001qeu.3	-	1	266	c.72C>T	c.(70-72)atC>atT	p.I24I	KCNJ5_uc001qet.3_Intron|KCNJ5_uc009zck.3_Intron|C11orf45_uc009zcl.3_Silent_p.I24I|C11orf45_uc001qev.3_Silent_p.I24I	NM_145013	NP_659450	Q8TAV5	CK045_HUMAN	Homo sapiens chromosome 11 open reading frame 45 (C11orf45), transcript variant 2, mRNA.	24						extracellular region				endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		gctcccagctgatggcagcgt	0.587000														65			7		0	0	0.003080	0	0
AMPD1	270	broad.mit.edu	37	1	115220031	115220031	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:115220031G>A	uc001efe.2	-	9	1476	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	AMPD1_uc001eff.2_Silent_p.F472F	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	443					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.F476L(1)|p.F443L(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GATTGCAGACGAACCAGGAGG	0.562000														72			12		0	0	0.000978	0	0
LCT	3938	broad.mit.edu	37	2	136548425	136548425	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:136548425G>A	uc002tuu.1	-	14	5149	c.5138C>T	c.(5137-5139)tCg>tTg	p.S1713L		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1713	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTCTGGCCACGAGCGATCTGC	0.448000														54			9		0	0	0.008291	0	0
MRPL44	65080	broad.mit.edu	37	2	224822312	224822312	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:224822312C>T	uc002vnr.4	+	0	192	c.123C>T	c.(121-123)ttC>ttT	p.F41F		NM_022915	NP_075066	Q9H9J2	RM44_HUMAN	Homo sapiens mitochondrial ribosomal protein L44 (MRPL44), nuclear gene encoding mitochondrial protein, mRNA.	41					RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCTTCCGCTTCCAGAAGGAGT	0.692000														16			4		0	0	0.000602	0	0
GRHL1	29841	broad.mit.edu	37	2	10105479	10105479	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:10105479C>T	uc002raa.3	+	7	1250	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_Missense_Mutation_p.S171F|GRHL1_uc010yjb.2_Missense_Mutation_p.S209F	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.	360					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		AACGCCATTTCCTTCACATGG	0.443000														39			23		0	0	0.002780	0	0
GTF2F1	2962	broad.mit.edu	37	19	6387513	6387513	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:6387513G>A	uc002meq.2	-	4	669	c.384C>T	c.(382-384)acC>acT	p.T128T	GTF2F1_uc010xjb.1_5'UTR|GTF2F1_uc010xjc.1_Intron	NM_002096	NP_002087	P35269	T2FA_HUMAN	Homo sapiens general transcription factor IIF, polypeptide 1, 74kDa (GTF2F1), mRNA.	128					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	DNA binding|catalytic activity|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CGGGGCACTGGGTGAAGATGT	0.632000														40			25		0	0	0.003954	0	0
CASP14	23581	broad.mit.edu	37	19	15166036	15166036	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15166036A>C	uc010dzv.2	+	4	683	c.471A>C	c.(469-471)caA>caC	p.Q157H		NM_012114	NP_036246	P31944	CASPE_HUMAN	Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA.	157					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						ACAGCCCACAAACCATCCCAA	0.522000														50			15		0	0	0.002450	0	0
BTNL2	56244	broad.mit.edu	37	6	32372984	32372984	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:32372984G>A	uc003obg.1	-	1	159	c.159C>T	c.(157-159)ctC>ctT	p.L53L	BTNL2_uc010jty.1_5'UTR|BTNL2_uc010jtz.1_Non-coding_Transcript|BTNL2_uc010jua.1_Intron	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	53	Ig-like V-type 1.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TCCTCTTGGGGAGTAGCTGGC	0.532000														59			34		0	0	0.002836	0	0
C10orf118	55088	broad.mit.edu	37	10	115922739	115922739	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:115922739G>A	uc001lbb.1	-	1	941	c.289C>T	c.(289-291)Cct>Tct	p.P97S	C10orf118_uc009xye.1_Non-coding_Transcript|C10orf118_uc001lbc.1_Missense_Mutation_p.P97S|C10orf118_uc001lbd.3_Missense_Mutation_p.P97S|C10orf118_uc001lbe.3_Missense_Mutation_p.P97S	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	Homo sapiens chromosome 10 open reading frame 118 (C10orf118), mRNA.	97										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TTTCCACTAGGAAAATTAGCT	0.348000														31			11		0	0	0.008291	0	0
EPO	2056	broad.mit.edu	37	7	100320615	100320615	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100320615C>T	uc003uwi.3	+	4	622	c.441C>T	c.(439-441)tcC>tcT	p.S147S	EPO_uc011kkc.1_Silent_p.S146S	NM_000799	NP_000790	P01588	EPO_HUMAN	Homo sapiens erythropoietin (EPO), mRNA.	147					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	AAGCCATCTCCCCTCCAGATG	0.537000														97			26		0	0	0.002445	0	0
SOGA2	23255	broad.mit.edu	37	18	8798221	8798221	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:8798221T>C	uc002knr.2	+	9	2510	c.2368T>C	c.(2368-2370)Tcc>Ccc	p.S790P	SOGA2_uc002knq.2_Missense_Mutation_p.S749P|SOGA2_uc002kns.2_Missense_Mutation_p.S120P	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	1100																	CTCCCCACACTCCCGGGTGCA	0.672000														25			13		0	0	0.003163	0	0
PAPPA2	60676	broad.mit.edu	37	1	176740190	176740190	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:176740190T>A	uc001gkz.3	+	16	5753	c.4589T>A	c.(4588-4590)aTt>aAt	p.I1530N	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1530	Sushi 3.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTCCCCCTATTATTCTGAAT	0.517000														49			30		0	0	0.002096	0	0
ACSL5	51703	broad.mit.edu	37	10	114176735	114176735	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:114176735C>T	uc001kzu.3	+	12	1453	c.1341C>T	c.(1339-1341)atC>atT	p.I447I	ACSL5_uc001kzs.3_Silent_p.I391I|ACSL5_uc001kzt.3_Silent_p.I391I|ACSL5_uc009xxz.3_Silent_p.I391I|ACSL5_uc010qrj.2_Silent_p.I173I	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	391					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		AGGGTATCATCAGGCATGATA	0.473000														27			9		0	0	0.006214	0	0
RAC1	5879	broad.mit.edu	37	7	6426907	6426907	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:6426907C>T	uc003spx.3	+	1	341	c.100C>T	c.(100-102)Cct>Tct	p.P34S	RAC1_uc003spw.3_Missense_Mutation_p.P34S|RAC1_uc021zzg.1_5'UTR	NM_006908	NP_008839	P63000	RAC1_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA.	34					T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	AGAATATATCCCTACTGTGTA	0.363000														74			22		0	0	0.004656	0	0
VWA3B	200403	broad.mit.edu	37	2	98737762	98737762	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:98737762G>A	uc002syo.3	+	5	807	c.543_splice	c.e5-1	p.R181_splice	VWA3B_uc010yvh.2_Splice_Site_p.M31_splice|VWA3B_uc002syj.3_Splice_Site|VWA3B_uc002syk.1_Splice_Site|VWA3B_uc002syl.1_Splice_Site|VWA3B_uc002sym.3_Splice_Site_p.R181_splice|VWA3B_uc002syn.1_Splice_Site	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	181			R -> W (in dbSNP:rs2305355).							NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCCTTTTCAGGGTTTCTCAAG	0.522000														18			11		0	0	0.001368	0	0
ACER2	340485	broad.mit.edu	37	9	19423880	19423880	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:19423880C>T	uc003zny.1	+	1	287	c.129C>T	c.(127-129)ttC>ttT	p.F43F	ACER2_uc003znx.1_Non-coding_Transcript|ACER2_uc003znz.1_5'UTR	NM_001010887	NP_001010887	Q5QJU3	ACER2_HUMAN	Homo sapiens alkaline ceramidase 2 (ACER2), mRNA.	43					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						TCTTATTTTTCATTTTACCGC	0.373000														36			28		0	0	0.006320	0	0
CHRDL1	91851	broad.mit.edu	37	X	109922606	109922606	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:109922606C>T	uc004eou.4	-	10	1553	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	CHRDL1_uc004eov.3_Missense_Mutation_p.E391K|CHRDL1_uc004eow.3_Missense_Mutation_p.E400K|CHRDL1_uc010nps.3_Missense_Mutation_p.E401K|CHRDL1_uc011mss.2_Missense_Mutation_p.E322K	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA.	394					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GGAAGCTCCTCAAACATCCTC	0.448000														34			12		0	0	0.001855	0	0
OR8D2	283160	broad.mit.edu	37	11	124189535	124189535	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:124189535G>A	uc010sah.2	-	0	559	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GAGCAAGACAGAGTCAATAAG	0.438000														19			16		0	0	0.004990	0	0
SLC6A5	9152	broad.mit.edu	37	11	20636293	20636293	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:20636293C>T	uc001mqd.3	+	5	1327	c.1054C>T	c.(1054-1056)Ccc>Tcc	p.P352S	SLC6A5_uc009yic.3_Missense_Mutation_p.P117S	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	352					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GACCGCTTATCCCAACGTGAC	0.398000														77			37		0	0	0.006230	0	0
MYO6	4646	broad.mit.edu	37	6	76576731	76576731	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:76576731G>A	uc003pih.1	+	17	2132	c.1853G>A	c.(1852-1854)cGg>cAg	p.R618Q	MYO6_uc003pig.1_Missense_Mutation_p.R618Q|MYO6_uc003pii.1_Missense_Mutation_p.R618Q	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	618	Myosin head-like.				DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AAGTTTATACGGGAATTATTT	0.318000														35			6		0	0	0.001168	0	0
IMPG1	3617	broad.mit.edu	37	6	76751789	76751789	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:76751789C>T	uc003pik.1	-	1	252	c.122G>A	c.(121-123)aGa>aAa	p.R41K		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	41					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGTTTCATTTCTTGGGGGATT	0.318000														57			27		0	0	0.009535	0	0
SGCZ	137868	broad.mit.edu	37	8	14412247	14412247	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:14412247G>A	uc003wwq.3	-	1	888	c.228C>T	c.(226-228)ttC>ttT	p.F76F	SGCZ_uc010lss.3_Silent_p.F63F	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	63					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TTACCACAGTGAAATTCATAA	0.333000														35			4		0	0	0.000602	0	0
RCBTB1	55213	broad.mit.edu	37	13	50140794	50140794	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:50140794G>A	uc001vde.1	-	3	498	c.237C>T	c.(235-237)ctC>ctT	p.L79L		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 (RCBTB1), mRNA.	79					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		TCCCGTAACTGAGGCTTTTAA	0.418000														36			9		0	0	0.008291	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37547012	37547012	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:37547012G>A	uc002xje.3	+	10	1596	c.1407G>A	c.(1405-1407)tgG>tgA	p.W469*	PPP1R16B_uc010ggc.3_Nonsense_Mutation_p.W427*	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	469					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CCCCGCCCTGGAGCAGCTACA	0.637000														52			27		0	0	0.003954	0	0
KIAA1958	158405	broad.mit.edu	37	9	115337393	115337393	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:115337393C>T	uc011lwx.1	+	1	1208	c.1033C>T	c.(1033-1035)Cat>Tat	p.H345Y	KIAA1958_uc004bgf.1_Missense_Mutation_p.H345Y	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	345								p.H345N(2)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GTTCCTGTCCCATCTGCCCAG	0.567000														105			25		0	0	0.002780	0	0
C10orf71	118461	broad.mit.edu	37	10	50531678	50531678	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:50531678G>A	uc021pqb.1	+	0	1088	c.1088G>A	c.(1087-1089)gGa>gAa	p.G363E	C10orf71_uc021pqa.1_Missense_Mutation_p.G362E|C10orf71_uc021pqc.1_Missense_Mutation_p.G363E	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	363										endometrium(1)	1						GCTGTGGAAGGAAAAGCTCCC	0.532000														38			10		0	0	0.008291	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8436279	8436279	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:8436279C>T	uc002mjq.1	+	5	1107	c.912C>T	c.(910-912)ctC>ctT	p.L304L	ANGPTL4_uc002mjr.1_Silent_p.L266L|ANGPTL4_uc010xkc.1_Silent_p.L137L	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN	Homo sapiens angiopoietin-like 4 (ANGPTL4), transcript variant 1, mRNA.	304	Fibrinogen C-terminal.			L -> F (in Ref. 1; AAF62868).	angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						GCCTGCAGCTCACTGCACCCG	0.697000														32			12		0	0	0.001368	0	0
RP1	6101	broad.mit.edu	37	8	55541954	55541954	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:55541954C>T	uc003xsd.1	+	3	5660	c.5512C>T	c.(5512-5514)Cgc>Tgc	p.R1838C	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1838					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.R1838H(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCTGGATGTTCGCAATGAAAC	0.423000														14			7		0	0	0.001984	0	0
SDK1	221935	broad.mit.edu	37	7	4188998	4188998	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:4188998C>T	uc003smx.3	+	29	4667	c.4528C>T	c.(4528-4530)Cgg>Tgg	p.R1510W	SDK1_uc010kso.3_Missense_Mutation_p.R786W|SDK1_uc003smy.3_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1510	Fibronectin type-III 9.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTCCCCCATCCGGTACTTCAC	0.677000														10			5		0	0	0.000602	0	0
ZNF558	148156	broad.mit.edu	37	19	8931947	8931947	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:8931947G>A	uc002mkn.1	-	2	386	c.156C>T	c.(154-156)ttC>ttT	p.F52F	ZNF558_uc010xkh.1_5'UTR|ZNF558_uc010dwg.1_Silent_p.F52F	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	Homo sapiens zinc finger protein 558 (ZNF558), mRNA.	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CCTCCTGGGTGAACTCCACGG	0.572000														37			21		0	0	0.010504	0	0
PAGE4	9506	broad.mit.edu	37	X	49598451	49598451	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:49598451G>A	uc004don.1	+	4	374	c.295G>A	c.(295-297)Gat>Aat	p.D99N		NM_007003	NP_008934	O60829	GAGC1_HUMAN	Homo sapiens P antigen family, member 4 (prostate associated) (PAGE4), mRNA.	99												Ovarian(276;0.236)					TATTTTAGGAGATGGGCAGCC	0.333000														3			6		0	0	0.003080	0	0
CYP4F22	126410	broad.mit.edu	37	19	15648746	15648746	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15648746C>T	uc002nbh.4	+	6	780	c.613C>T	c.(613-615)Ctc>Ttc	p.L205F		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	205						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GCATATCAGCCTCATGACCCT	0.512000														42			26		0	0	0.006320	0	0
HYDIN	54768	broad.mit.edu	37	16	70897082	70897082	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:70897082G>A	uc002ezr.3	-	67	11623	c.11472C>T	c.(11470-11472)ttC>ttT	p.F3824F	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.	3825								p.F3776F(1)|p.F3824F(1)		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)				TAATCACATCGAACCTGCAAA	0.448000														24			6		0	0	0.001168	0	0
MMP24	10893	broad.mit.edu	37	20	33851659	33851659	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:33851659G>A	uc002xbu.2	+	4	886	c.883G>A	c.(883-885)Gac>Aac	p.D295N	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	295					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCACTCCAGCGACCCCAGCGC	0.622000														13			5		0	0	0.001168	0	0
MORC2	22880	broad.mit.edu	37	22	31331295	31331295	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:31331295G>A	uc003aje.1	-	18	2930	c.1566C>T	c.(1564-1566)atC>atT	p.I522I		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	584							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CTTGGGAGCGGATGGGTGTGG	0.483000														26			5		0	0	0.001984	0	0
COL6A3	1293	broad.mit.edu	37	2	238303252	238303252	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:238303252C>T	uc002vwl.2	-	2	972	c.687G>A	c.(685-687)acG>acA	p.T229T	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Intron|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Silent_p.T229T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	229	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TAAGGGTTTCCGTGTCCCCAG	0.488000														24			13		0	0	0.003163	0	0
BTN3A1	11119	broad.mit.edu	37	6	26408109	26408109	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:26408109G>A	uc003nhv.3	+	3	1012	c.644G>A	c.(643-645)gGg>gAg	p.G215E	BTN3A1_uc011dkj.2_Missense_Mutation_p.G215E|BTN3A1_uc010jqj.3_Missense_Mutation_p.G215E|BTN3A1_uc011dkk.2_Missense_Mutation_p.G163E	NM_007048	NP_008979	O00481	BT3A1_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A1 (BTN3A1), transcript variant 1, mRNA.	215	Ig-like V-type 2.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGCAGCTCTGGGGAGGGTGTA	0.547000														87			33		0	0	0.003271	0	0
SLC26A3	1811	broad.mit.edu	37	7	107431616	107431616	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:107431616G>A	uc003ver.2	-	4	658	c.447C>T	c.(445-447)gtC>gtT	p.V149V	SLC26A3_uc003ves.2_Silent_p.V114V	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	149					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TGCGATCTGGGACTGCTTTTG	0.488000														49			34		0	0	0.003271	0	0
MSH3	4437	broad.mit.edu	37	5	80064787	80064787	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:80064787C>T	uc003kgz.3	+	14	2471	c.2218C>T	c.(2218-2220)Cct>Tct	p.P740S		NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	740					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ACTAAAAAATCCTTCTGCACA	0.313000								Mismatch excision repair (MMR)						32			5		0	0	0.001168	0	0
SRPX2	27286	broad.mit.edu	37	X	99924355	99924355	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:99924355C>T	uc004egb.3	+	9	1686	c.1206C>T	c.(1204-1206)atC>atT	p.I402I		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	402					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CCAACATCATCGAGGAGCTCA	0.627000														7			4		0	0	0.000602	0	0
FGL2	10875	broad.mit.edu	37	7	76825644	76825644	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:76825644G>A	uc003ugb.3	-	1	1312	c.1272C>T	c.(1270-1272)tcC>tcT	p.S424S	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	424	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CCTCTTTGAAGGAGGACTTGT	0.438000														35			4		0	0	0.009096	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64521939	64521939	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:64521939C>T	uc003jtp.3	-	15	2855	c.2041G>A	c.(2041-2043)Gat>Aat	p.D681N	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.D302N	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	681					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		ATGCAGATATCCAGTGAATCC	0.403000														13			3		0	0	0.009096	0	0
B3GAT1	27087	broad.mit.edu	37	11	134252840	134252840	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:134252840C>T	uc001qhq.3	-	4	943	c.682G>A	c.(682-684)Gag>Aag	p.E228K	B3GAT1_uc001qhr.3_Missense_Mutation_p.E228K|B3GAT1_uc010scv.1_Missense_Mutation_p.E241K	NM_018644	NP_473366	Q9P2W7	B3GA1_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA.	228					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CGTGGGGCCTCGTACCGCAGG	0.657000														5			3		0	0	0.004672	0	0
FMO1	2326	broad.mit.edu	37	1	171227251	171227251	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:171227251G>A	uc009wvz.3	+	1	161	c.25G>A	c.(25-27)Gga>Aga	p.G9R	FMO1_uc010pme.2_Missense_Mutation_p.G9R|FMO1_uc001ghl.3_Missense_Mutation_p.G9R|FMO1_uc001ghm.3_Missense_Mutation_p.G9R	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	9					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCCATTGTGGGAGCTGGGGT	0.577000														43			33		0	0	0.009535	0	0
ADAM22	53616	broad.mit.edu	37	7	87792331	87792332	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:87792331_87792332GG>AA	uc003ujn.3	+	22	2127_2128	c.1912_1913GG>AA	c.(1912-1914)ggg>AAg	p.G638K	ADAM22_uc003ujk.2_Missense_Mutation_p.G638K|ADAM22_uc003ujl.2_Missense_Mutation_p.G638K|ADAM22_uc003ujm.3_Missense_Mutation_p.G638K|ADAM22_uc003ujo.3_Missense_Mutation_p.G638K|ADAM22_uc003ujp.1_Missense_Mutation_p.G690K	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	638	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TTTTAGTGGTGGGCATGTTAAG	0.381000														71			16		0	0	0.004672	0	0
CDHR1	92211	broad.mit.edu	37	10	85973023	85973023	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:85973023C>T	uc001kcv.3	+	15	2064	c.1959C>T	c.(1957-1959)tcC>tcT	p.S653S	CDHR1_uc001kcw.3_Silent_p.S653S|CDHR1_uc009xst.3_Silent_p.S357S|CDHR1_uc001kcx.3_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	653	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GCCTATGGTCCCTAGAGGTGC	0.557000														85			20		0	0	0.003330	0	0
CBFA2T3	863	broad.mit.edu	37	16	88951529	88951529	+	Missense_Mutation	SNP	C	A	A	rs140507946	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:88951529C>A	uc002fmm.2	-	6	1331	c.1042G>T	c.(1042-1044)Gcc>Tcc	p.A348S	CBFA2T3_uc002fml.2_Missense_Mutation_p.A262S|CBFA2T3_uc010cif.1_Missense_Mutation_p.A287S|CBFA2T3_uc002fmn.2_Missense_Mutation_p.A323S	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.	348	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)		TGGGCCATGGCTATGTCCTCC	0.706000			T	RUNX1	AML									31			12		1.49906e-05	1.64052e-05	0.002450	1	0
OR13F1	138805	broad.mit.edu	37	9	107267348	107267348	+	Missense_Mutation	SNP	G	A	A	rs140352060		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:107267348G>A	uc011lvm.2	+	0	805	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGATTCACAGGAAATAGACAA	0.468000														34			16		0	0	0.003163	0	0
LYST	1130	broad.mit.edu	37	1	235972605	235972605	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:235972605C>T	uc001hxj.2	-	4	1688	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.E505K	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	505					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGAGAATATTCACATCGTCTG	0.373000														55			22		0	0	0.003330	0	0
TMPPE	643853	broad.mit.edu	37	3	33135527	33135527	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:33135527G>A	uc003cfk.2	-	1	373	c.161C>T	c.(160-162)tCg>tTg	p.S54L	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Intron|TMPPE_uc021wux.1_Missense_Mutation_p.S54L	NM_001039770	NP_001129710	Q6ZT21	TMPPE_HUMAN	Homo sapiens transmembrane protein with metallophosphoesterase domain (TMPPE), transcript variant 1, mRNA.	54						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GAGCAAGAGCGAGTTGACAAA	0.572000														18			6		0	0	0.003080	0	0
LMO7	4008	broad.mit.edu	37	13	76381956	76381956	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:76381956G>A	uc021rkq.1	+	9	1872	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	LMO7_uc010thv.2_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc001vjv.3_Missense_Mutation_p.E280K|LMO7_uc010thw.2_Intron|LMO7_uc001vjw.1_Missense_Mutation_p.E186K	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	565						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)		TCCGGATTTGGAAAAAGATGA	0.438000														71			9		0	0	0.006214	0	0
ZNF558	148156	broad.mit.edu	37	19	8922501	8922501	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:8922501G>A	uc002mkn.1	-	5	895	c.665C>T	c.(664-666)tCc>tTc	p.S222F	ZNF558_uc010xkh.1_Missense_Mutation_p.S151F|ZNF558_uc010dwg.1_Missense_Mutation_p.S222F	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	Homo sapiens zinc finger protein 558 (ZNF558), mRNA.	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.S222F(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CAGTCTAAGGGATGAGGGATC	0.408000														24			7		0	0	0.001984	0	0
SI	6476	broad.mit.edu	37	3	164716441	164716441	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:164716441C>T	uc003fei.3	-	37	4490	c.4427G>A	c.(4426-4428)gGa>gAa	p.G1476E		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1476	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)	CCCTCTTTTTCCAGTTGTCTT	0.388000										HNSCC(35;0.089)				27			5		0	0	0.001984	0	0
ANK1	286	broad.mit.edu	37	8	41566470	41566470	+	Silent	SNP	G	A	A	rs144904116	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:41566470G>A	uc003xok.3	-	16	1908	c.1824C>T	c.(1822-1824)atC>atT	p.I608I	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_5'Flank|ANK1_uc003xoi.3_Silent_p.I608I|ANK1_uc003xoj.3_Silent_p.I608I|ANK1_uc003xol.3_Silent_p.I608I|ANK1_uc003xom.3_Silent_p.I641I	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	608	89 kDa 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)			GCTTGGCAGCGATGTGCAAAG	0.577000														28			13		0	0	0.001855	0	0
HECW2	57520	broad.mit.edu	37	2	197184551	197184551	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:197184551C>T	uc002utm.1	-	8	1246	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	HECW2_uc002utl.1_5'UTR	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	355					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.D354D(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGCATGTCCTCGTCATCGGAA	0.512000														37			12		0	0	0.001368	0	0
SLC12A8	84561	broad.mit.edu	37	3	124802800	124802800	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:124802800G>A	uc003ehw.4	-	13	2236	c.2166C>T	c.(2164-2166)ttC>ttT	p.F722F	SLC12A8_uc003ehv.4_Silent_p.F693F|SLC12A8_uc003eht.4_Silent_p.F494F|SLC12A8_uc010hry.3_3'UTR	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	693					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						CCCGAGTGGCGAAGTCTGCAT	0.587000														8			5		0	0	0.000602	0	0
SOS1	6654	broad.mit.edu	37	2	39222477	39222477	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:39222477G>A	uc002rrk.4	-	19	3174	c.3133C>T	c.(3133-3135)Cca>Tca	p.P1045S	SOS1_uc002rrj.4_Missense_Mutation_p.P659S	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	1045					Ras protein signal transduction|apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	cytosol	DNA binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CCTGGTCTTGGGTTTGATGGA	0.408000									Noonan syndrome					55			29		0	0	0.002096	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41447371	41447372	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:41447371_41447372GG>AA	uc010ehh.1	+	4	824_825	c.816_817GG>AA	c.(814-819)atggaa>atAAaa	p.272_273ME>IK	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						TGCTCCACATGGAAAAAGTGGG	0.564000														32			23		0	0	0.004672	0	0
PIGR	5284	broad.mit.edu	37	1	207108075	207108075	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:207108075C>T	uc001hez.3	-	5	1579	c.1395G>A	c.(1393-1395)aaG>aaA	p.K465K	PIGR_uc009xbz.3_Silent_p.K465K	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	465	Ig-like V-type 5.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCCCTGGTACCTTGAGGTTTG	0.507000														17			8		0	0	0.006214	0	0
DOCK7	85440	broad.mit.edu	37	1	63024829	63024829	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:63024829G>A	uc001daq.3	-	19	2296	c.2262C>T	c.(2260-2262)gtC>gtT	p.V754V	DOCK7_uc001dan.3_Silent_p.V646V|DOCK7_uc001dao.3_Silent_p.V646V|DOCK7_uc001dap.3_Silent_p.V754V	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	754	DHR-1.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CCCCAATTCGGACTGGGAACA	0.393000														22			10		0	0	0.001368	0	0
NRXN3	9369	broad.mit.edu	37	14	79175599	79175599	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:79175599C>T	uc001xun.3	+	3	633	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.R182C	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGAGCTGTCTCGCCTGGCCCG	0.458000														34			23		0	0	0.002096	0	0
RYR1	6261	broad.mit.edu	37	19	38991630	38991630	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:38991630G>A	uc002oit.3	+	47	7744	c.7614_splice	c.e47+1	p.T2538_splice	RYR1_uc002oiu.3_Splice_Site_p.T2538_splice|RYR1_uc002oiv.1_Splice_Site	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2538	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGCTGGACACGGTGAGCAACC	0.617000														19			6		0	0	0.001168	0	0
HERC3	8916	broad.mit.edu	37	4	89608440	89608440	+	Nonsense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:89608440A>T	uc003hrw.1	+	22	2813	c.2647A>T	c.(2647-2649)Aag>Tag	p.K883*	HERC3_uc011cdn.1_Nonsense_Mutation_p.K765*|HERC3_uc011cdo.1_Nonsense_Mutation_p.K327*	NM_014606	NP_055421	Q15034	HERC3_HUMAN	Homo sapiens hect domain and RLD 3 (HERC3), mRNA.	883					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		AACTGTGTGCAAGGATAACAG	0.353000														6			9		0	0	0.006214	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140779038	140779038	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140779038C>T	uc003lkf.2	+	0	1344	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Silent_p.F448F	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	454	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGGTTTTCCACCAGGCGT	0.582000														33			17		0	0	0.007413	0	0
PTPN7	5778	broad.mit.edu	37	1	202123389	202123389	+	Silent	SNP	C	T	T	rs147405290		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:202123389C>T	uc001gxn.2	-	5	1627	c.531G>A	c.(529-531)tcG>tcA	p.S177S	PTPN7_uc001gxl.2_Silent_p.S216S|PTPN7_uc001gxm.2_Silent_p.S282S|PTPN7_uc010ppx.2_Silent_p.S251S|PTPN7_uc010ppw.2_Silent_p.S125S|PTPN7_uc010ppy.2_Intron|PTPN7_uc001gxo.1_Silent_p.S129S	NM_002832	NP_002823	P35236	PTN7_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 7 (PTPN7), transcript variant 1, mRNA.	177	Tyrosine-protein phosphatase.					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CCCAGAAGTCCGACACAGTGT	0.592000														33			15		0	0	0.004007	0	0
BAI3	577	broad.mit.edu	37	6	70048811	70048811	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:70048811G>A	uc010kak.3	+	23	3468	c.3192G>A	c.(3190-3192)caG>caA	p.Q1064Q	BAI3_uc003pev.4_Silent_p.Q1064Q|BAI3_uc011dxx.2_Silent_p.Q270Q	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1064					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTTGCAGTCAGATGAGTGAGC	0.408000														147			63		0	0	0.003610	0	0
TBX18	9096	broad.mit.edu	37	6	85446756	85446756	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:85446756C>T	uc003pkl.1	-	7	1471	c.1471G>A	c.(1471-1473)Gga>Aga	p.G491R	TBX18_uc010kbq.2_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	491					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S490S(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGGGACATTCCCGAAATCTGC	0.532000														114			49		0	0	0.003610	0	0
SLC7A9	11136	broad.mit.edu	37	19	33353099	33353099	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:33353099G>T	uc002ntv.4	-	5	746	c.629C>A	c.(628-630)tCt>tAt	p.S210Y	SLC7A9_uc002ntt.4_Intron|SLC7A9_uc002ntu.4_Missense_Mutation_p.S210Y|SLC7A9_uc021usa.1_Missense_Mutation_p.S210Y|SLC7A9_uc002ntw.4_Intron|JA660679_uc021usb.1_5'Flank	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	210					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GCCCTCGAAAGAATTATCAAA	0.527000														47			22		6.21321e-17	6.86377e-17	0.002780	1	0
FAM47B	170062	broad.mit.edu	37	X	34962818	34962818	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:34962818C>T	uc004ddi.2	+	0	1906	c.1870C>T	c.(1870-1872)Cct>Tct	p.P624S		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	624								p.P624A(2)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGTTAAGACTCCTATTCAACG	0.398000														46			24		0	0	0.005443	0	0
MAEL	84944	broad.mit.edu	37	1	166958650	166958650	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:166958650G>A	uc001gdy.1	+	0	132	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	MAEL_uc021peh.1_5'UTR|MAEL_uc001gdz.1_Missense_Mutation_p.E21K|MAEL_uc009wvf.1_5'Flank	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	21					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GAAGATCCCCGAACTACGGCG	0.597000														10			4		0	0	0.009096	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3428392	3428392	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:3428392C>T	uc002qxm.1	+	4	1581	c.1375C>T	c.(1375-1377)Ctt>Ttt	p.L459F	TRAPPC12_uc002qxn.1_Missense_Mutation_p.L459F|TRAPPC12_uc010ewm.1_Missense_Mutation_p.L459F	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	Homo sapiens trafficking protein particle complex 12 (TRAPPC12), mRNA.	459							binding	p.L459I(1)									TCAGCCAGATCTTTATTACGA	0.463000														137			34		0	0	0.004878	0	0
ATRX	546	broad.mit.edu	37	X	76952146	76952146	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:76952146G>A	uc004ecp.4	-	4	521	c.289C>T	c.(289-291)Cct>Tct	p.P97S	ATRX_uc004ecq.4_Missense_Mutation_p.P97S|ATRX_uc004eco.4_5'UTR|ATRX_uc004ecr.2_Missense_Mutation_p.P97S|ATRX_uc010nlx.1_Missense_Mutation_p.P97S|ATRX_uc010nly.1_Missense_Mutation_p.P42S	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	97					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCATCCAAAGGTTTTTCATCA	0.299000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							19			37		0	0	0.004289	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648653	41648653	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:41648653C>T	uc003gvz.4	+	16	2980	c.2563C>T	c.(2563-2565)Cat>Tat	p.H855Y	LIMCH1_uc003gwe.4_Missense_Mutation_p.H470Y|LIMCH1_uc003gvu.4_Missense_Mutation_p.H470Y|LIMCH1_uc003gvv.4_Missense_Mutation_p.H470Y|LIMCH1_uc003gvw.4_Missense_Mutation_p.H470Y|LIMCH1_uc003gvx.4_Missense_Mutation_p.H458Y|LIMCH1_uc003gvy.4_Missense_Mutation_p.H299Y|LIMCH1_uc003gwa.4_Missense_Mutation_p.H311Y|LIMCH1_uc011byu.2_Missense_Mutation_p.H304Y|LIMCH1_uc003gwc.4_Missense_Mutation_p.H316Y|LIMCH1_uc003gwd.4_Missense_Mutation_p.H304Y|LIMCH1_uc011byv.2_Missense_Mutation_p.H221Y	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	470					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GGAAAGAAGCCATTCAACAGA	0.493000														77			74		0	0	0.003610	0	0
MYH13	8735	broad.mit.edu	37	17	10267715	10267715	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10267715C>T	uc002gmk.1	-	2	223	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	45	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACATACATTTCCTTATTATCC	0.448000														9			4		0	0	0.009096	0	0
DAB2	1601	broad.mit.edu	37	5	39376948	39376948	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:39376948C>T	uc003jlx.3	-	11	2472	c.1941G>A	c.(1939-1941)gaG>gaA	p.E647E	DAB2_uc003jlw.3_Silent_p.E626E	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	647					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CATCCTTGATCTCTTTATCCC	0.552000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			11		0	0	0.008291	0	0
RERG	85004	broad.mit.edu	37	12	15262321	15262321	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:15262321G>A	uc001rcs.3	-	3	463	c.323C>T	c.(322-324)cCc>cTc	p.P108L	RERG_uc001rct.3_Missense_Mutation_p.P108L|RERG_uc010shu.2_Missense_Mutation_p.P89L	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	108					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	GDP binding|GTP binding|GTPase activity|estrogen receptor binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CACATTCTTGGGCTTTTTGAT	0.488000														183			29		0	0	0.005443	0	0
MARK1	4139	broad.mit.edu	37	1	220808746	220808746	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:220808746G>A	uc009xdw.3	+	11	1748	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E	MARK1_uc001hmn.4_Missense_Mutation_p.G384E|MARK1_uc010pun.2_Missense_Mutation_p.G384E|MARK1_uc001hmm.4_Missense_Mutation_p.G362E	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	384					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTATCCAGTGGAAACTTGTGT	0.418000														25			4		0	0	0.009096	0	0
PCLO	27445	broad.mit.edu	37	7	82578833	82578833	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82578833C>T	uc003uhx.2	-	5	11360	c.11071G>A	c.(11071-11073)Gaa>Aaa	p.E3691K	PCLO_uc003uhv.2_Missense_Mutation_p.E3691K|PCLO_uc010lec.3_Missense_Mutation_p.E656K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3622					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.E3691K(1)|p.E3622K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGGAACTTTCGTCTGCTGTT	0.463000														151			55		0	0	0.003610	0	0
C8orf80	389643	broad.mit.edu	37	8	27880884	27880884	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:27880884G>T	uc003xgm.4	-	18	2484	c.2341C>A	c.(2341-2343)Ctc>Atc	p.L781I		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	781						nucleus	GTP binding|GTPase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		GCCCTTAGGAGGAATTCTTGC	0.562000														28			5		0.000602214	0.000657442	0.000602	1	0
CEL	1056	broad.mit.edu	37	9	135946024	135946024	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:135946024G>A	uc010naa.1	+	9	1488	c.1472G>A	c.(1471-1473)tGg>tAg	p.W491*		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	488					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		ATCGCCTACTGGACCAACTTT	0.592000														220			144		0	0	0.003610	0	0
OR2T10	127069	broad.mit.edu	37	1	248756344	248756344	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248756344G>A	uc010pzn.2	-	0	726	c.726C>T	c.(724-726)tcC>tcT	p.S242S		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			TAATGTGGGAGGAGCAGGTGG	0.463000														22			5		0	0	0.001168	0	0
RXRG	6258	broad.mit.edu	37	1	165398114	165398114	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:165398114C>T	uc001gda.3	-	1	601	c.139G>A	c.(139-141)Gat>Aat	p.D47N	RXRG_uc021pea.1_5'UTR	NM_006917	NP_008848	P48443	RXRG_HUMAN	Homo sapiens retinoid X receptor, gamma (RXRG), transcript variant 1, mRNA.	47	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	ACTGGGGTATCTGTGTAGCTG	0.607000														34			12		0	0	0.000978	0	0
NLRP10	338322	broad.mit.edu	37	11	7981506	7981506	+	Silent	SNP	C	T	T	rs144039243		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:7981506C>T	uc001mfv.1	-	1	1670	c.1653G>A	c.(1651-1653)caG>caA	p.Q551Q		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	551							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAGATTCCATCTGTTCTTTAA	0.393000														35			13		0	0	0.001368	0	0
FNDC3B	64778	broad.mit.edu	37	3	171965461	171965461	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:171965461C>T	uc003fhy.3	+	4	575	c.403C>T	c.(403-405)Cat>Tat	p.H135Y	FNDC3B_uc003fhz.4_Missense_Mutation_p.H135Y|FNDC3B_uc003fia.3_Missense_Mutation_p.H66Y	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	135						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACATTTTATTCATAACTCACA	0.507000														89			25		0	0	0.003954	0	0
ZNF648	127665	broad.mit.edu	37	1	182025748	182025748	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:182025748G>A	uc001goz.3	-	1	1606	c.1398C>T	c.(1396-1398)caC>caT	p.H466H	ZNF648_uc021pfu.1_Silent_p.H466H	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GGATGCGCTGGTGGCGCACGA	0.667000														8			7		0	0	0.001984	0	0
MAP3K15	389840	broad.mit.edu	37	X	19482366	19482366	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:19482366G>A	uc022btq.1	-	3	684	c.684C>T	c.(682-684)ttC>ttT	p.F228F	MAP3K15_uc004czk.2_5'UTR	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	228							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GGAGGCTAATGAACCTGTCCA	0.547000														11			31		0	0	0.003271	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12812265	12812265	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:12812265A>T	uc002gnr.4	+	3	577	c.250A>T	c.(250-252)Atc>Ttc	p.I84F	ARHGAP44_uc010vvk.2_Missense_Mutation_p.I84F|ARHGAP44_uc010vvl.2_Missense_Mutation_p.I84F|ARHGAP44_uc002gns.4_5'UTR|ARHGAP44_uc010vvm.2_Missense_Mutation_p.I84F|ARHGAP44_uc010vvn.2_Non-coding_Transcript	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	84	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GGGGTCAGCTATCCTGGGAGA	0.458000														64			71		0	0	0.003610	0	0
GPR112	139378	broad.mit.edu	37	X	135428876	135428876	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:135428876C>T	uc004ezu.1	+	5	3302	c.3011C>T	c.(3010-3012)tCc>tTc	p.S1004F	GPR112_uc010nsb.1_Missense_Mutation_p.S799F|GPR112_uc010nsc.1_Missense_Mutation_p.S771F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1004					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCTGCTCATTCCTCAGCAACC	0.493000														26			58		0	0	0.003610	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916031	42916031	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:42916031G>A	uc003cmh.3	-	0	1603	c.1278C>T	c.(1276-1278)atC>atT	p.I426I	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	426					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TGTAGTGGTGGATCTTCTTGC	0.542000														95			25		0	0	0.002780	0	0
VIP	7432	broad.mit.edu	37	6	153076443	153076443	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:153076443C>T	uc003qpe.3	+	3	442	c.270C>T	c.(268-270)ttC>ttT	p.F90F	VIP_uc003qpf.3_Silent_p.F90F|VIP_uc010kjd.3_Silent_p.F90F	NM_003381	NP_003372	P01282	VIP_HUMAN	Homo sapiens vasoactive intestinal peptide (VIP), transcript variant 1, mRNA.	90					G-protein coupled receptor protein signaling pathway|body fluid secretion|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		CCAGTGACTTCAGTAAACTCT	0.308000														32			18		0	0	0.001882	0	0
RBMX2	51634	broad.mit.edu	37	X	129543258	129543258	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:129543258C>T	uc004evt.3	+	3	265	c.201C>T	c.(199-201)ctC>ctT	p.L67L		NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN	Homo sapiens RNA binding motif protein, X-linked 2 (RBMX2), mRNA.	67	RRM.						RNA binding|nucleotide binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						ACATTAATCTCGTGCGGGACA	0.368000														25			9		0	0	0.008291	0	0
SLC16A11	162515	broad.mit.edu	37	17	6945846	6945846	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:6945846G>T	uc002gei.1	-	2	993	c.655C>A	c.(655-657)Ctt>Att	p.L219I		NM_153357	NP_699188	Q8NCK7	MOT11_HUMAN	Homo sapiens solute carrier family 16, member 11 (monocarboxylic acid transporter 11) (SLC16A11), mRNA.	219						integral to membrane|plasma membrane	symporter activity			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						TCTCCAGGAAGGACCAGGGGT	0.662000														2			3		0.004672	0.00509285	0.004672	1	0
DEF6	50619	broad.mit.edu	37	6	35277517	35277517	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:35277517G>A	uc003okk.3	+	1	206	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	DEF6_uc010jvs.3_Missense_Mutation_p.R56Q|DEF6_uc010jvt.3_5'UTR	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.	56						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GAACACTTCCGAGATGATGAT	0.572000														38			16		0	0	0.004007	0	0
SORL1	6653	broad.mit.edu	37	11	121489489	121489489	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:121489489G>A	uc001pxx.3	+	41	5740	c.5611G>A	c.(5611-5613)Ggt>Agt	p.G1871S	SORL1_uc010rzp.1_Missense_Mutation_p.G717S|SORL1_uc010rzq.1_Missense_Mutation_p.G486S	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1871	Fibronectin type-III 4.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCAGGTTTATGGTATTTTCTA	0.453000														66			9		0	0	0.000978	0	0
TP53	7157	broad.mit.edu	37	17	7578453	7578454	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:7578453_7578454GG>AA	uc002gim.2	-	4	670_671	c.476_477CC>TT	c.(475-477)gcc>gTT	p.A159V	TP53_uc002gig.1_Missense_Mutation_p.A159V|TP53_uc002gih.3_Missense_Mutation_p.A159V|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.A27V|TP53_uc010cnf.1_Missense_Mutation_p.A27V|TP53_uc002gii.1_Missense_Mutation_p.A27V|TP53_uc010cni.1_Missense_Mutation_p.A159V|TP53_uc010cnh.1_Missense_Mutation_p.A159V|TP53_uc002gij.2_Missense_Mutation_p.A159V|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.A66V|TP53_uc002gio.2_Missense_Mutation_p.A27V|TP53_uc010vug.2_Missense_Mutation_p.A120V	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	159	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R158H(66)|p.A159V(65)|p.R158L(61)|p.R158C(17)|p.A159A(16)|p.A159P(15)|p.A159D(14)|p.R158G(12)|p.R158P(9)|p.R158fs(8)|p.0?(8)|p.A159T(7)|p.R158R(6)|p.R158fs*12(6)|p.A159fs*11(5)|p.R158_A159delRA(4)|p.A159S(4)|p.R156_I162delRVRAMAI(4)|p.R158fs*11(4)|p.R158_A159insX(4)|p.A159fs*21(3)|p.V157_C176del20(2)|p.R65fs(2)|p.R156_A161delRVRAMA(2)|p.P151_V173del23(2)|p.R156_A161del(2)|p.V157fs*9(2)|p.V157_M160delVRAM(2)|p.T155_A161delTRVRAMA(2)|p.R26fs(2)|p.V157_I162delVRAMAI(2)|p.A159_Q167delAMAIYKQSQ(2)|p.R158fs*8(2)|p.V157_R158delVR(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R158_A159insXX(1)|p.A66V(1)|p.S149fs*72(1)|p.R158_A161del(1)|p.A27V(1)|p.R156fs*20(1)|p.R158F(1)|p.V157fs*21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGATGGCCATGGCGCGGACGCG	0.629000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				27			19		0	0	0.004672	0	0
ZNF135	7694	broad.mit.edu	37	19	58578377	58578377	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:58578377C>T	uc002qrg.3	+	3	600	c.597C>T	c.(595-597)ctC>ctT	p.L199L	ZNF135_uc002qre.3_Silent_p.L175L|ZNF135_uc002qrf.3_Silent_p.L133L|ZNF135_uc010yhq.2_Silent_p.L187L|ZNF135_uc010yhr.2_5'UTR|ZNF135_uc002qrd.2_Silent_p.L187L|ZNF135_uc021vcu.1_Intron	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	187					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ACCCTGATCTCCCACATCAAC	0.522000														31			6		0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179583544	179583544	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179583544A>T	uc021vsy.1	-	80	20876	c.20651T>A	c.(20650-20652)cTg>cAg	p.L6884Q	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L3545Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7811	Ig-like 50.						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)			AAAATCTTCCAGAGAGATGTT	0.488000														24			13		0	0	0.004007	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488839	20488839	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:20488839C>T	uc001ytf.1	+	1		c.322C>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TCCTGAAGTTCTTGTTTCTGT	0.423000														38			9		0	0	0.006214	0	0
ZZEF1	23140	broad.mit.edu	37	17	3977637	3977637	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:3977637G>A	uc002fxe.3	-	23	3556	c.3492C>T	c.(3490-3492)acC>acT	p.T1164T		NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	1164							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CGGCCTTGAAGGTCACTTTCT	0.488000											OREG0024096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			31		0	0	0.002096	0	0
GJB5	2709	broad.mit.edu	37	1	35223146	35223146	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:35223146C>T	uc001bxu.3	+	1	315	c.215C>T	c.(214-216)tCc>tTc	p.S72F	GJB5_uc021okz.1_Missense_Mutation_p.S72F|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	72					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TTCCCTGTGTCCCATGTGCGC	0.602000														60			7		0	0	0.004482	0	0
IL1B	3553	broad.mit.edu	37	2	113588928	113588928	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:113588928C>T	uc002tii.1	-	5	625	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	IL1B_uc002tih.1_Missense_Mutation_p.E149K	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	180					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	p.E180K(2)		breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	AGATTCTTTTCCTTGAGGCCC	0.468000														78			41		0	0	0.002852	0	0
ANAPC2	29882	broad.mit.edu	37	9	140074659	140074659	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:140074659A>G	uc004clr.1	-	9	1937	c.1864T>C	c.(1864-1866)Tac>Cac	p.Y622H	ANAPC2_uc004clq.1_Missense_Mutation_p.Y478H	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	622					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TTCTTGCAGTAAGCCTCCAGG	0.622000														39			5		0	0	0.003080	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12856020	12856020	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:12856020C>T	uc001auj.2	+	3	1403	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	434										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCCACTTCGGGCTGAGCT	0.562000														253			9		0	0	0.004990	0	0
GSTM3	2947	broad.mit.edu	37	1	110280150	110280150	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:110280150G>A	uc001dyo.2	-	7	818	c.508C>T	c.(508-510)Cag>Tag	p.Q170*	GSTM3_uc001dyp.2_Nonsense_Mutation_p.Q167*|GSTM3_uc010ovv.2_Nonsense_Mutation_p.Q170*	NM_000849	NP_000840	P21266	GSTM3_HUMAN	Homo sapiens glutathione S-transferase mu 3 (brain) (GSTM3), transcript variant 1, mRNA.	170	GST C-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	ATACGGTTCTGATCCAAGATA	0.438000														78			5		0	0	0.001984	0	0
EDN1	1906	broad.mit.edu	37	6	12294190	12294190	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:12294190G>A	uc003nae.4	+	2	584	c.250G>A	c.(250-252)Gga>Aga	p.G84R	EDN1_uc003nad.3_Missense_Mutation_p.G84R|EDN1_uc003naf.4_Missense_Mutation_p.G83R	NM_001955	NP_001946	P05305	EDN1_HUMAN	Homo sapiens endothelin 1 (EDN1), transcript variant 1, mRNA.	84					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of JUN kinase activity|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				TGTTCCGTATGGACTTGGAAG	0.413000														16			11		0	0	0.000978	0	0
TGM6	343641	broad.mit.edu	37	20	2381057	2381057	+	Missense_Mutation	SNP	G	A	A	rs148376598	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:2381057G>A	uc002wfy.1	+	6	1017	c.956G>A	c.(955-957)cGg>cAg	p.R319Q	TGM6_uc010gal.1_Missense_Mutation_p.R319Q	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	319					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TCCTTCGGGCGGACCCTGGAG	0.612000														34			26		0	0	0.006320	0	0
GLI1	2735	broad.mit.edu	37	12	57865069	57865069	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:57865069C>T	uc001snx.3	+	11	2640	c.2546C>T	c.(2545-2547)tCc>tTc	p.S849F	GLI1_uc021qzi.1_Missense_Mutation_p.S808F|GLI1_uc009zpq.3_Missense_Mutation_p.S721F	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	849					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCTCTCTTTTCCCATTACCCC	0.617000														34			5		0	0	0.001168	0	0
SALL1	6299	broad.mit.edu	37	16	51175015	51175015	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:51175015G>A	uc021tif.1	-	1	1149	c.827C>T	c.(826-828)tCg>tTg	p.S276L	SALL1_uc021tid.1_Missense_Mutation_p.S276L|SALL1_uc021tie.1_Missense_Mutation_p.S373L|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	373					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R276Q(1)|p.R276*(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGTGAGGACGATGATGAGAC	0.512000														40			19		0	0	0.007413	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475257	140475257	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140475257C>T	uc003lil.3	+	0	1021	c.883C>T	c.(883-885)Cga>Tga	p.R295*	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	295	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAAACGTTTCGATTAAGTGC	0.428000														27			5		0	0	0.001168	0	0
ZNF536	9745	broad.mit.edu	37	19	31039022	31039022	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:31039022C>T	uc002nsu.1	+	3	2634	c.2496C>T	c.(2494-2496)ttC>ttT	p.F832F	ZNF536_uc010edd.1_Silent_p.F832F	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	832					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)					CTTCTCTGTTCATCAGGCCAG	0.587000														62			30		0	0	0.008361	0	0
FCGR3A	2214	broad.mit.edu	37	1	161518461	161518461	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:161518461G>A	uc001gar.3	-	2	361	c.177C>T	c.(175-177)ctC>ctT	p.L59L	FCGR3A_uc001gas.3_Silent_p.L58L|FCGR3A_uc001gat.4_Silent_p.L23L|FCGR3A_uc009wuh.3_Silent_p.L22L|FCGR3A_uc009wui.3_Silent_p.L23L	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	23	Ig-like C2-type 1.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGCCTTTGGGAGATCTTCTG	0.552000														66			13		0	0	0.004007	0	0
C21orf62	56245	broad.mit.edu	37	21	34166294	34166294	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:34166294C>T	uc021wik.1	-	0	439	c.439G>A	c.(439-441)Gac>Aac	p.D147N	C21orf49_uc002yqs.3_Intron|C21orf49_uc002yqu.4_Intron|C21orf49_uc002yqt.3_Intron|C21orf62_uc010glz.3_Missense_Mutation_p.D147N|C21orf62_uc011adt.2_Missense_Mutation_p.D147N|C21orf62_uc011adu.2_Missense_Mutation_p.D147N	NM_019596	NP_062542	Q9NYP8	CU062_HUMAN	Homo sapiens chromosome 21 open reading frame 62 (C21orf62), transcript variant 2, mRNA.	147										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				GAGTCACTGTCCCCACCGCTA	0.502000														16			14		0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9045613	9045613	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9045613G>A	uc002mkp.3	-	4	36222	c.36018C>T	c.(36016-36018)acC>acT	p.T12006T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12008	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						TCCCAGGTGTGGTCAGAGGAG	0.428000														12			9		0	0	0.008291	0	0
HEPH	9843	broad.mit.edu	37	X	65390523	65390523	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:65390523G>A	uc011moz.2	+	1	410	c.273G>A	c.(271-273)tgG>tgA	p.W91*	HEPH_uc004dwn.3_Nonsense_Mutation_p.W40*|HEPH_uc004dwo.3_Intron|HEPH_uc010nkr.3_Nonsense_Mutation_p.W40*|HEPH_uc011mpa.2_Nonsense_Mutation_p.W40*	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	37	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATGTGCAGTGGAACTATGCTC	0.522000														6			11		0	0	0.008291	0	0
LONRF2	164832	broad.mit.edu	37	2	100911913	100911913	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:100911913C>T	uc002tal.4	-	7	2219	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	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.	527					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						TCTGACATTTCTTCATCATAA	0.358000														48			26		0	0	0.007291	0	0
EMR1	2015	broad.mit.edu	37	19	6904114	6904114	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:6904114C>T	uc002mfw.3	+	7	908	c.870C>T	c.(868-870)ggC>ggT	p.G290G	EMR1_uc010dvc.3_Silent_p.G290G|EMR1_uc010dvb.3_Silent_p.G238G|EMR1_uc010xji.2_Silent_p.G149G|EMR1_uc010xjj.2_Intron	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	290	EGF-like 6; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ATGCCCTGGGCTCCTACAGCT	0.473000														38			14		0	0	0.004990	0	0
OR52A1	23538	broad.mit.edu	37	11	5173510	5173510	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5173510C>T	uc010qyy.2	-	0	90	c.90G>A	c.(88-90)ggG>ggA	p.G30G		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	30					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAATGGAATCCCAATCCAGC	0.458000														30			15		0	0	0.002450	0	0
CXorf59	286464	broad.mit.edu	37	X	36090074	36090074	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:36090074G>A	uc004ddk.1	+	2	362	c.176G>A	c.(175-177)gGa>gAa	p.G59E		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	59						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						CCTGCAAAGGGAAACTTATTT	0.358000														10			11		0	0	0.008291	0	0
OSBPL3	26031	broad.mit.edu	37	7	24901383	24901383	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:24901383C>T	uc003sxf.3	-	9	1281	c.876G>A	c.(874-876)ccG>ccA	p.P292P	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Silent_p.P292P|OSBPL3_uc003sxh.3_Silent_p.P261P|OSBPL3_uc003sxi.3_Silent_p.P261P|OSBPL3_uc003sxj.1_Silent_p.P57P|OSBPL3_uc003sxk.1_Silent_p.P26P	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	292					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AAAAAGGTTTCGGGACCTGAA	0.358000														31			23		0	0	0.005443	0	0
CERKL	375298	broad.mit.edu	37	2	182412563	182412563	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:182412563C>T	uc002unx.3	-	9	1324	c.1223G>A	c.(1222-1224)gGa>gAa	p.G408E	CERKL_uc010frk.3_Intron|CERKL_uc002uny.3_Missense_Mutation_p.G382E|CERKL_uc010zfm.2_Missense_Mutation_p.G364E|CERKL_uc002unz.3_Missense_Mutation_p.G130E|CERKL_uc002uoa.3_Missense_Mutation_p.G313E|CERKL_uc002uob.3_Missense_Mutation_p.G130E|CERKL_uc002uoc.3_Missense_Mutation_p.G269E|CERKL_uc021vth.1_Missense_Mutation_p.G177E|CERKL_uc021vti.1_Missense_Mutation_p.G130E|CERKL_uc021vtj.1_Missense_Mutation_p.G85E|CERKL_uc021vtk.1_Missense_Mutation_p.G130E|CERKL_uc021vtl.1_Missense_Mutation_p.G85E|CERKL_uc021vtm.1_Missense_Mutation_p.G177E|CERKL_uc002uod.2_Missense_Mutation_p.G177E|CERKL_uc002uoe.3_3'UTR|CERKL_uc002unw.3_5'UTR	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	408					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity	p.P408L(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTTGGGAGATCCCTGTGCCCT	0.393000														99			33		0	0	0.004878	0	0
IL33	90865	broad.mit.edu	37	9	6252872	6252872	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:6252872C>T	uc003zjt.3	+	4	428	c.350C>T	c.(349-351)tCa>tTa	p.S117L	IL33_uc011lmg.2_Intron|IL33_uc011lmh.2_Intron|IL33_uc022bdf.1_Missense_Mutation_p.S75L	NM_033439	NP_254274	O95760	IL33_HUMAN	Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA.	117					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		ACAGGAATTTCACCTATTACA	0.318000														47			14		0	0	0.007413	0	0
ARMC4	55130	broad.mit.edu	37	10	28224012	28224012	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:28224012C>T	uc009xky.3	-	15	2520	c.2422G>A	c.(2422-2424)Gga>Aga	p.G808R	ARMC4_uc010qds.2_Missense_Mutation_p.G333R|ARMC4_uc010qdt.2_Missense_Mutation_p.G500R|ARMC4_uc001itz.3_Missense_Mutation_p.G808R	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	808							binding	p.G808R(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGGTTTATTCCAACAAGGAGG	0.458000														59			20		0	0	0.008871	0	0
GBP5	115362	broad.mit.edu	37	1	89729432	89729432	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:89729432C>T	uc001dnc.3	-	8	1886	c.1349G>A	c.(1348-1350)cGg>cAg	p.R450Q	GBP5_uc001dnd.3_Missense_Mutation_p.R450Q|GBP5_uc001dne.1_Missense_Mutation_p.R450Q	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	450						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TATTCCTTTCCGAGGCTCCCG	0.433000														64			35		0	0	0.006230	0	0
COL5A1	1289	broad.mit.edu	37	9	137645726	137645726	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:137645726G>A	uc004cfe.3	+	14	2132	c.1750G>A	c.(1750-1752)Gag>Aag	p.E584K		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	584	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTTGAAGGGCGAGCCGGGAGA	0.652000														56			9		0	0	0.008291	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214098	3214098	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:3214098C>T	uc002fvi.2	+	0	560	c.494C>T	c.(493-495)gCc>gTc	p.A165V						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		CAAACTGTTGCCCTGTCTCCT	0.532000														77			65		0	0	0.003610	0	0
RNF133	168433	broad.mit.edu	37	7	122338482	122338482	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:122338482A>G	uc003vkj.1	-	0	727	c.491T>C	c.(490-492)tTc>tCc	p.F164S	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	Homo sapiens ring finger protein 133 (RNF133), mRNA.	164	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						AATTAAATGGAAAATTTCCGT	0.423000														39			15		0	0	0.004007	0	0
PPM1F	9647	broad.mit.edu	37	22	22285612	22285612	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:22285612G>A	uc002zvp.2	-	5	946	c.799C>T	c.(799-801)Ctg>Ttg	p.L267L	PPM1F_uc011aik.2_Silent_p.L163L|PPM1F_uc002zvq.3_Silent_p.L267L	NM_014634	NP_055449	P49593	PPM1F_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1F (PPM1F), mRNA.	267					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GCGACGTGCAGGGTCGCTCCT	0.622000														43			24		0	0	0.005443	0	0
WWP2	11060	broad.mit.edu	37	16	69922004	69922004	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:69922004C>T	uc002exu.1	+	8	855	c.766C>T	c.(766-768)Cca>Tca	p.P256S	WWP2_uc002ext.3_Missense_Mutation_p.P256S|WWP2_uc002exv.1_Missense_Mutation_p.P256S|WWP2_uc010vlm.1_Missense_Mutation_p.P140S	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	256					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGTGACGTCCCCACCTGCTGC	0.532000														62			36		0	0	0.007835	0	0
STRA8	346673	broad.mit.edu	37	7	134943183	134943183	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:134943183C>T	uc011kpx.2	+	8	932	c.932C>T	c.(931-933)cCc>cTc	p.P311L		NM_182489	NP_872295	Q7Z7C7	STRA8_HUMAN	Homo sapiens stimulated by retinoic acid gene 8 homolog (mouse) (STRA8), mRNA.	311					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						GCATCCTTTCCCGTTGATGAA	0.517000														4			3		0	0	0.004672	0	0
DNAH5	1767	broad.mit.edu	37	5	13692125	13692125	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:13692125G>A	uc003jfd.2	-	78	13885	c.13843C>T	c.(13843-13845)Cgt>Tgt	p.R4615C	DNAH5_uc003jfc.2_Missense_Mutation_p.R783C	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4615					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R4615H(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)					GCAACCCCACGGAGCACCCAG	0.483000									Kartagener syndrome					38			12		0	0	0.000978	0	0
CELSR3	1951	broad.mit.edu	37	3	48685752	48685752	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:48685752C>T	uc003cuf.1	-	20	7130	c.7130G>A	c.(7129-7131)aGg>aAg	p.R2377K	CELSR3_uc010hkg.3_Missense_Mutation_p.R290K|CELSR3_uc003cul.3_Missense_Mutation_p.R2307K	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2307					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTCCATATTCCTTGCGAGTGT	0.657000														27			6		0	0	0.006214	0	0
WDR49	151790	broad.mit.edu	37	3	167277998	167277998	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:167277998C>T	uc003fev.1	-	4	809	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	WDR49_uc003feu.1_5'UTR|WDR49_uc011bpd.1_Missense_Mutation_p.G222R|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	169										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ACAGTAGACCCTGTATCAGAG	0.378000														21			19		0	0	0.007413	0	0
PHC3	80012	broad.mit.edu	37	3	169896716	169896716	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:169896716G>A	uc003fgl.2	-	1	59	c.25C>T	c.(25-27)Cat>Tat	p.H9Y	PHC3_uc010hws.1_5'UTR|PHC3_uc011bpq.1_Missense_Mutation_p.H9Y|PHC3_uc011bpr.1_Missense_Mutation_p.H9Y|PHC3_uc003fgm.2_Missense_Mutation_p.H9Y|PHC3_uc003fgo.1_5'UTR|PHC3_uc003fgp.3_Missense_Mutation_p.H9Y|PHC3_uc003fgq.3_Missense_Mutation_p.H9Y|PHC3_uc003fgr.1_Non-coding_Transcript	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	0					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GCTGTACTATGGTCCTTAAAT	0.413000														151			47		0	0	0.003610	0	0
ZPLD1	131368	broad.mit.edu	37	3	102153992	102153992	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:102153992G>A	uc003dvt.1	+	0	134	c.34G>A	c.(34-36)Gat>Aat	p.D12N	ZPLD1_uc003dvs.1_Intron|ZPLD1_uc011bhg.1_5'UTR	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	0			I -> F (in dbSNP:rs6784362).			integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CAGGGGAAATGATGAAGGTAA	0.368000														23			9		0	0	0.000978	0	0
KRTAP19-7	337974	broad.mit.edu	37	21	31933513	31933513	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:31933513G>A	uc011adb.2	-	0	96	c.96C>T	c.(94-96)ttC>ttT	p.F32F		NM_181614	NP_853645	Q3SYF9	KR197_HUMAN	Homo sapiens keratin associated protein 19-7 (KRTAP19-7), mRNA.	32						intermediate filament				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						CCAGTCTGCGGAAGCTGCCAC	0.542000														64			4		0	0	0.000602	0	0
DDX60	55601	broad.mit.edu	37	4	169167643	169167643	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:169167643G>A	uc003irp.3	-	29	4382	c.4090C>T	c.(4090-4092)Ctc>Ttc	p.L1364F		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1364	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTTATGCTGAGAGGGAAGTGT	0.488000														15			24		0	0	0.003330	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157816	26157816	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:26157816G>A	uc022bub.1	+	0	714	c.714G>A	c.(712-714)ggG>ggA	p.G238G	MAGEB18_uc004dbq.2_Silent_p.G238G	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	238	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TCCTCTATGGGGATCCCAGGA	0.493000														3			5		0	0	0.001168	0	0
ZNF425	155054	broad.mit.edu	37	7	148801242	148801242	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:148801242C>T	uc003wfj.3	-	3	1854	c.1721G>A	c.(1720-1722)cGg>cAg	p.R574Q		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	574					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCTGTGCATCCGCTGGTGGAA	0.602000														29			8		0	0	0.006214	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64137230	64137230	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:64137230C>T	uc001oae.3	+	13	1745	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	RPS6KA4_uc001oad.3_Silent_p.F548F|RPS6KA4_uc010rnl.2_Silent_p.F491F|RPS6KA4_uc001oaf.3_Silent_p.F547F|RPS6KA4_uc009ypp.3_Intron	NM_003942	NP_003933	O75676	KS6A4_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 1, mRNA.	554	Protein kinase 2.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						ACTTCGGGTTCGCGCGGTTGC	0.706000														13			9		0	0	0.008291	0	0
FMN1	342184	broad.mit.edu	37	15	33359009	33359009	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:33359009C>T	uc001zhf.4	-	0	1077	c.1077G>A	c.(1075-1077)aaG>aaA	p.K359K	FMN1_uc001zhg.2_Silent_p.K359K	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	453	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GGTCTGCTCCCTTCGGTTCAG	0.567000														59			32		0	0	0.003755	0	0
FLRT2	23768	broad.mit.edu	37	14	86089609	86089609	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:86089609G>A	uc021rxf.1	+	0	1751	c.1751G>A	c.(1750-1752)cGg>cAg	p.R584Q	FLRT2_uc001xvr.3_Missense_Mutation_p.R584Q|FLRT2_uc010atd.3_Missense_Mutation_p.R584Q	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	584					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.R583W(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CGGGGCCGGCGGAAAGATGAT	0.493000														55			38		0	0	0.005524	0	0
OR5F1	338674	broad.mit.edu	37	11	55761292	55761292	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55761292C>T	uc010riv.2	-	0	810	c.810G>A	c.(808-810)caG>caA	p.Q270Q		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N269N(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CCACTTTGTCCTGATTCAGGG	0.468000														57			26		0	0	0.004656	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	22995424	22995424	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:22995424A>G	uc003xcz.1	-	8	1212	c.1120T>C	c.(1120-1122)Tat>Cat	p.Y374H		NM_003840	NP_003831	Q9UBN6	TR10D_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain (TNFRSF10D), mRNA.	374					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TCTTCTTCATAAAAGAGCTTT	0.488000														34			3		0	0	0.004672	0	0
EMB	133418	broad.mit.edu	37	5	49701599	49701599	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:49701599G>A	uc003jom.3	-	4	809	c.560C>T	c.(559-561)cCt>cTt	p.P187L	EMB_uc010ivq.3_5'Flank|EMB_uc003jol.3_Missense_Mutation_p.P118L|EMB_uc011cpy.2_Missense_Mutation_p.P137L	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	187	Ig-like V-type 2.					integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				CCAATTTAAAGGAAAACAATT	0.328000														23			14		0	0	0.004007	0	0
UNC79	57578	broad.mit.edu	37	14	94071282	94071282	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:94071282C>T	uc001ybv.1	+	23	3347	c.3264C>T	c.(3262-3264)ctC>ctT	p.L1088L	UNC79_uc001ybs.1_Intron	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1252						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTCCAGCTCTCGGTGGGACAC	0.473000														6			5		0	0	0.001168	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130286860	130286860	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:130286860C>T	uc001qgg.4	-	2	1429	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	357	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGGTGTGGGCCGCCTGGAGCC	0.582000														115			8		0	0	0.006214	0	0
ZNF480	147657	broad.mit.edu	37	19	52803732	52803732	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:52803732C>T	uc010ydl.2	+	1	137	c.67C>T	c.(67-69)Cct>Tct	p.P23S	ZNF480_uc002pyv.3_5'UTR|ZNF480_uc010ydm.2_Missense_Mutation_p.P23S|ZNF480_uc010epn.3_5'UTR	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GATGGCTCTTCCTCAGGTGAG	0.453000														60			28		0	0	0.007291	0	0
OR52A1	23538	broad.mit.edu	37	11	5172912	5172912	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5172912G>A	uc010qyy.2	-	0	688	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	230					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.R230H(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGCAAACGAAAAACTGTG	0.423000														40			9		0	0	0.004482	0	0
CNTN5	53942	broad.mit.edu	37	11	100221454	100221454	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:100221454C>T	uc001pga.3	+	23	3556	c.3052C>T	c.(3052-3054)Cac>Tac	p.H1018Y	CNTN5_uc021qpb.1_Missense_Mutation_p.H1018Y|CNTN5_uc021qpc.1_Missense_Mutation_p.H944Y|CNTN5_uc010ruk.2_Missense_Mutation_p.H289Y	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	1018	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GCAAGAGGGTCACAGCAACAG	0.383000														29			6		0	0	0.001168	0	0
ROBO2	6092	broad.mit.edu	37	3	77571981	77571981	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:77571981G>A	uc011bgk.2	+	5	1505	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	ROBO2_uc021xat.1_Missense_Mutation_p.E304K|ROBO2_uc003dpy.4_Missense_Mutation_p.E288K|ROBO2_uc003dpz.3_Missense_Mutation_p.E288K|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.	288	Ig-like C2-type 3.				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)		GAGTACAGATGAAGGCACCTA	0.368000														51			24		0	0	0.002780	0	0
abParts	0	broad.mit.edu	37	2	89156946	89156946	+	RNA	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:89156946G>A	uc021vkt.1	-	299		c.10783C>T			abParts_uc002sti.1_Non-coding_Transcript|abParts_uc002stj.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CGCAGGCGTAGACTTTGTGTT	0.577000														50			12		0	0	0.001368	0	0
CTAGE6P	340307	broad.mit.edu	37	7	143453537	143453537	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:143453537C>T	uc003wdk.4	-	0	1307	c.1215G>A	c.(1213-1215)gaG>gaA	p.E405E	FAM115C_uc011ktn.1_Intron|FAM115C_uc011kto.2_Intron|FAM115C_uc011ktp.2_Intron|FAM115C_uc011ktq.1_Intron|FAM115C_uc011ktr.1_Intron|FAM115C_uc011kts.1_Intron|FAM115C_uc003wdj.1_Intron	NM_178561	NP_848656	Q86UF2	CTGE6_HUMAN	Homo sapiens CTAGE family, member 6, pseudogene (CTAGE6P), mRNA.	405						integral to membrane											GGTAATTTTCCTCCACTGTTA	0.368000														62			17		0	0	0.004007	0	0
QRICH2	84074	broad.mit.edu	37	17	74287112	74287112	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:74287112G>A	uc002jrd.1	-	3	3378	c.3198C>T	c.(3196-3198)ttC>ttT	p.F1066F	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1066							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GTGCCAGCAGGAACTGGATCT	0.532000														24			67		0	0	0.003610	0	0
PTAFR	5724	broad.mit.edu	37	1	28476731	28476731	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:28476731G>A	uc009vte.3	-	2	1137	c.802C>T	c.(802-804)Cac>Tac	p.H268Y	PTAFR_uc021ojz.1_Missense_Mutation_p.H268Y|PTAFR_uc001bpl.3_Missense_Mutation_p.H268Y|PTAFR_uc001bpm.4_Missense_Mutation_p.H268Y|PTAFR_uc021oka.1_Missense_Mutation_p.H268Y	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN	Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.	268					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGCCTGGTGGAATTTGCTG	0.552000														34			18		0	0	0.006122	0	0
APLNR	187	broad.mit.edu	37	11	57003729	57003729	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:57003729G>A	uc001njo.3	-	0	1199	c.750C>T	c.(748-750)atC>atT	p.I250I	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	250						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						CCAGCACCACGATGATGCTGA	0.612000														20			7		0	0	0.001984	0	0
SARDH	1757	broad.mit.edu	37	9	136599120	136599120	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:136599120G>A	uc004cep.4	-	1	310	c.176C>T	c.(175-177)cCa>cTa	p.P59L	SARDH_uc004ceo.3_Missense_Mutation_p.P59L|SARDH_uc011mdo.2_Intron|SARDH_uc011mdn.2_Missense_Mutation_p.P59L	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	59					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GGGCCGGCTTGGGCCTTGGGC	0.667000														30			9		0	0	0.001368	0	0
INHBA	3624	broad.mit.edu	37	7	41729281	41729281	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:41729281C>T	uc003thq.3	-	1	1483	c.1248G>A	c.(1246-1248)caG>caA	p.Q416Q	INHBA_uc003thr.3_Silent_p.Q416Q	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	416					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CGATCATGTTCTGAATGTCCT	0.483000										TSP Lung(11;0.080)				41			32		0	0	0.005524	0	0
IL5RA	3568	broad.mit.edu	37	3	3146588	3146588	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:3146588C>T	uc011ask.2	-	4	726	c.82_splice	c.e4+1	p.I28_splice	IL5RA_uc010hbq.3_Splice_Site_p.I28_splice|IL5RA_uc010hbr.3_Splice_Site_p.I28_splice|IL5RA_uc010hbs.3_Splice_Site_p.I28_splice|IL5RA_uc011asl.2_Splice_Site_p.I28_splice|IL5RA_uc011asm.1_Splice_Site_p.I28_splice|IL5RA_uc010hbt.2_Splice_Site_p.I28_splice|IL5RA_uc011asn.1_Splice_Site_p.I28_splice|IL5RA_uc010hbu.2_Splice_Site_p.I28_splice	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	28					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GGTCCTTACTCTTTTCATCAG	0.338000														36			7		0	0	0.001984	0	0
COL5A1	1289	broad.mit.edu	37	9	137702112	137702112	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:137702112G>A	uc004cfe.3	+	43	3868	c.3486G>A	c.(3484-3486)ggG>ggA	p.G1162G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1162	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAGAGATCGGGGAGCCGGGGC	0.582000														49			19		0	0	0.002780	0	0
SLC9A3	6550	broad.mit.edu	37	5	482666	482666	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:482666G>A	uc003jbe.2	-	6	1465	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	SLC9A3_uc011clx.1_Silent_p.F451F	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	451						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GCCTCACCTGGAAGATGACGG	0.622000														44			17		0	0	0.001882	0	0
LRRK1	79705	broad.mit.edu	37	15	101598270	101598270	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:101598270G>A	uc002bwr.3	+	28	4922	c.4603G>A	c.(4603-4605)Ggg>Agg	p.G1535R	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1535					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACTGTGCTGTGGGAAGCAGAC	0.582000														46			5		0	0	0.000602	0	0
C10orf27	219793	broad.mit.edu	37	10	72534976	72534976	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:72534976G>A	uc010qjm.1	-	7	1134	c.744C>T	c.(742-744)atC>atT	p.I248I	C10orf27_uc001jrj.1_Silent_p.I247I|C10orf27_uc009xqh.1_Intron|C10orf27_uc010qjn.1_Silent_p.I246I|C10orf27_uc009xqi.1_Non-coding_Transcript	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	Homo sapiens chromosome 10 open reading frame 27 (C10orf27), mRNA.	247					cell differentiation|multicellular organismal development|spermatogenesis	cytosol				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|skin(2)	16						GCCAGAACTGGATTGCGCTTA	0.597000														29			7		0	0	0.003080	0	0
ZNF648	127665	broad.mit.edu	37	1	182026398	182026398	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:182026398A>G	uc001goz.3	-	1	956	c.748T>C	c.(748-750)Tac>Cac	p.Y250H	ZNF648_uc021pfu.1_Missense_Mutation_p.Y250H	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y250C(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						AGGCACCTGTAGGGACGCGCC	0.731000														5			4		0	0	0.009096	0	0
SPINK5	11005	broad.mit.edu	37	5	147480076	147480076	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:147480076G>A	uc003lox.2	+	12	1225	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E	SPINK5_uc010jgs.1_Silent_p.E356E|SPINK5_uc010jgr.2_Silent_p.E365E|SPINK5_uc003low.2_Silent_p.E384E|SPINK5_uc003loy.2_Silent_p.E384E	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	384	Kazal-like 6.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	p.E384Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCAGAGAGAACGATCCTA	0.488000														25			15		0	0	0.003163	0	0
COL14A1	7373	broad.mit.edu	37	8	121381671	121381671	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:121381671C>T	uc003yox.3	+	46	5523	c.5258C>T	c.(5257-5259)tCt>tTt	p.S1753F	COL14A1_uc003yoz.3_Missense_Mutation_p.S718F	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1753	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAAGGTCCTTCTGGCCAGCCT	0.582000														43			19		0	0	0.008871	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166517	180166517	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:180166517G>A	uc003mmf.1	-	0	542	c.542C>T	c.(541-543)cCt>cTt	p.P181L		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGAAATACAGGCATCTCACA	0.522000														20			10		0	0	0.000978	0	0
ITGAX	3687	broad.mit.edu	37	16	31367283	31367283	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:31367283G>A	uc002ebt.3	+	1	174	c.107G>A	c.(106-108)gGg>gAg	p.G36E	ITGAX_uc010cao.1_Missense_Mutation_p.G36E|ITGAX_uc002ebu.1_Missense_Mutation_p.G36E	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	36					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GACAGCGCTGGGTTTGGAGAC	0.587000														77			21		0	0	0.002780	0	0
IFNAR1	3454	broad.mit.edu	37	21	34715863	34715863	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:34715863C>T	uc002yrn.3	+	4	701	c.554C>T	c.(553-555)tCc>tTc	p.S185F	IFNAR1_uc011adv.2_Missense_Mutation_p.S116F	NM_000629	NP_000620	P17181	INAR1_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 1 (IFNAR1), mRNA.	185	Fibronectin type-III 1.				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AATATTTATTCCAGACATAAA	0.289000														26			8		0	0	0.003080	0	0
JPH2	57158	broad.mit.edu	37	20	42744384	42744384	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:42744384C>T	uc002xli.1	-	3	2804	c.1931G>A	c.(1930-1932)gGg>gAg	p.G644E	JPH2_uc021wea.1_5'Flank	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	644					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)			CTTGGTCAGCCCTCGAGCCTC	0.701000														35			5		0	0	0.001984	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482329	152482329	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:152482329C>T	uc022chs.1	-	0	682	c.682G>A	c.(682-684)Gag>Aag	p.E228K	MAGEA1_uc004fhf.2_Missense_Mutation_p.E228K	NM_004988	NP_004979	P43355	MAGA1_HUMAN	Homo sapiens melanoma antigen family A, 1 (directs expression of antigen MZ2-E) (MAGEA1), mRNA.	228	MAGE.					cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCACTGTGCTCCCTCCCATCA	0.572000														16			33		0	0	0.004289	0	0
RNF123	63891	broad.mit.edu	37	3	49743429	49743429	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:49743429C>T	uc003cxh.3	+	24	2405	c.2319C>T	c.(2317-2319)tcC>tcT	p.S773S	RNF123_uc010hky.1_Silent_p.S435S|RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	773						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TGGGTGTCTCCGATGATGTCA	0.587000														49			29		0	0	0.002096	0	0
C1orf105	92346	broad.mit.edu	37	1	172431348	172431348	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:172431348G>A	uc001gik.3	+	4	502	c.304G>A	c.(304-306)Gat>Aat	p.D102N		NM_139240	NP_640333	O95561	CA105_HUMAN	Homo sapiens chromosome 1 open reading frame 105 (C1orf105), mRNA.	102										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						AATCCCAGATGATCCAAAAGC	0.343000														21			17		0	0	0.007413	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809104	18809104	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:18809104C>T	uc001bax.3	+	0	1681	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F	KLHDC7A_uc009vpg.3_Silent_p.F325F	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	543						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATTATCTCTTCGTGGTGTCCG	0.667000														40			24		0	0	0.003330	0	0
ANO2	57101	broad.mit.edu	37	12	5722088	5722088	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:5722088G>A	uc001qnm.2	-	18	2037	c.1965C>T	c.(1963-1965)ttC>ttT	p.F655F		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	660						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.F656F(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						GGTAACCATCGAATACATAGA	0.517000														20			30		0	0	0.003271	0	0
CDH10	1008	broad.mit.edu	37	5	24505229	24505229	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:24505229G>A	uc003jgr.2	-	7	1891	c.1385C>T	c.(1384-1386)gCt>gTt	p.A462V	CDH10_uc011cnu.2_Intron	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	462	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A461G(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ACTGATTTCAGCAGCAATAAC	0.274000										HNSCC(23;0.051)				17			11		0	0	0.002450	0	0
MCTP2	55784	broad.mit.edu	37	15	95019957	95019957	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:95019957C>T	uc002btj.3	+	20	2568	c.2503C>T	c.(2503-2505)Ccc>Tcc	p.P835S	MCTP2_uc010boj.3_Missense_Mutation_p.P564S|MCTP2_uc010bok.3_Missense_Mutation_p.P780S|MCTP2_uc002btl.3_Missense_Mutation_p.P423S	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	835					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GCTTCGAAATCCCTATTCCAT	0.378000														34			18		0	0	0.010504	0	0
FLNC	2318	broad.mit.edu	37	7	128494960	128494960	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:128494960G>A	uc003vnz.4	+	41	7338	c.7129G>A	c.(7129-7131)Gaa>Aaa	p.E2377K	FLNC_uc003voa.4_Missense_Mutation_p.E2344K	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2377					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGTCGTCCAGGAACCAGGTGG	0.627000														48			20		0	0	0.002299	0	0
AQPEP	206338	broad.mit.edu	37	5	115319033	115319033	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:115319033C>T	uc003kro.3	+	1	909	c.745C>T	c.(745-747)Cct>Tct	p.P249S	AQPEP_uc003krp.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	249					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										GTATGTTTTCCCTTGTTTTGA	0.398000														17			3		0	0	0.004672	0	0
VRTN	55237	broad.mit.edu	37	14	74824241	74824241	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:74824241C>T	uc021rwl.1	+	0	755	c.755C>T	c.(754-756)cCt>cTt	p.P252L	VRTN_uc001xpw.4_Missense_Mutation_p.P252L	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	252					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GAAGGTGCCCCTGGCGTGGCC	0.652000														29			22		0	0	0.003330	0	0
SLIT2	9353	broad.mit.edu	37	4	20598263	20598263	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:20598263G>A	uc003gpr.1	+	31	3750	c.3546G>A	c.(3544-3546)acG>acA	p.T1182T	SLIT2_uc003gps.1_Silent_p.T1174T	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1182	Laminin G-like.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGCCTCAGACGAACATAACAC	0.383000														11			11		0	0	0.008291	0	0
MUC16	94025	broad.mit.edu	37	19	9080501	9080501	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9080501C>T	uc002mkp.3	-	1	9734	c.9530G>A	c.(9529-9531)gGa>gAa	p.G3177E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3178	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A3175fs*111(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CGTGGAATTTCCTTGTGCTGC	0.498000														109			12		0	0	0.002450	0	0
HTR5A	3361	broad.mit.edu	37	7	154876048	154876048	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:154876048C>T	uc003wlu.1	+	1	989	c.925C>T	c.(925-927)Ccc>Tcc	p.P309S		NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	309						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GCTCATCAGTCCCCTCTGCTC	0.572000														64			48		0	0	0.003610	0	0
CPA6	57094	broad.mit.edu	37	8	68658352	68658352	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:68658352C>T	uc003xxq.4	-	0	269	c.13G>A	c.(13-15)Ggg>Agg	p.G5R	CPA6_uc003xxr.4_5'UTR|CPA6_uc003xxs.2_Missense_Mutation_p.G5R	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	5					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CTGCGCTTCCCGAGACACTTC	0.542000														31			7		0	0	0.003080	0	0
KIAA1217	56243	broad.mit.edu	37	10	24722007	24722007	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:24722007C>T	uc001iru.4	+	3	1040	c.637C>T	c.(637-639)Ctc>Ttc	p.L213F	KIAA1217_uc001irs.3_Missense_Mutation_p.L133F|KIAA1217_uc001irt.4_Missense_Mutation_p.L213F|KIAA1217_uc010qcy.2_Missense_Mutation_p.L213F|KIAA1217_uc010qcz.2_Missense_Mutation_p.L213F|KIAA1217_uc001irv.1_Missense_Mutation_p.L63F|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	213					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AATCCGTGCTCTCTTCGTAAG	0.458000														24			7		0	0	0.003080	0	0
DMXL1	1657	broad.mit.edu	37	5	118485031	118485031	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:118485031G>A	uc010jcl.1	+	17	3690	c.3509G>A	c.(3508-3510)gGc>gAc	p.G1170D	DMXL1_uc003ksd.2_Missense_Mutation_p.G1170D|DMXL1_uc021ycw.1_Missense_Mutation_p.G997D	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1170										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CCCCTGGCTGGCAAGGTACAA	0.423000														45			20		0	0	0.008871	0	0
DNAH9	1770	broad.mit.edu	37	17	11648291	11648291	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:11648291C>T	uc002gne.3	+	30	6357	c.6289C>T	c.(6289-6291)Ctc>Ttc	p.L2097F	DNAH9_uc010coo.3_Missense_Mutation_p.L1391F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2097					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)		GATCGGGGACCTCTTTCCCGC	0.572000														16			15		0	0	0.002450	0	0
ZC3H4	23211	broad.mit.edu	37	19	47569955	47569955	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:47569955G>A	uc002pga.4	-	14	3608	c.3570C>T	c.(3568-3570)ttC>ttT	p.F1190F	ZC3H4_uc002pgb.1_Non-coding_Transcript	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	1190							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		ACTTGCGGACGAACGGGGGCT	0.667000														10			6		0	0	0.001168	0	0
PACSIN1	29993	broad.mit.edu	37	6	34496573	34496573	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:34496573C>T	uc003ojo.3	+	3	633	c.375C>T	c.(373-375)atC>atT	p.I125I	PACSIN1_uc003ojp.3_Silent_p.I125I	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 1 (PACSIN1), transcript variant 1, mRNA.	125					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						ACAAGCAGATCATGGGTGGCT	0.557000														65			25		0	0	0.009535	0	0
KALRN	8997	broad.mit.edu	37	3	123946890	123946890	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:123946890G>A	uc003ehg.3	+	1	248	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	KALRN_uc010hrv.1_Missense_Mutation_p.E41K|KALRN_uc003ehf.1_Missense_Mutation_p.E41K|KALRN_uc011bjy.1_Missense_Mutation_p.E41K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	41	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TATCCTAAAGGAAAAGGTGGC	0.458000														120			26		0	0	0.006320	0	0
IGF2	3481	broad.mit.edu	37	11	2156695	2156695	+	Missense_Mutation	SNP	G	A	A	rs142012621		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:2156695G>A	uc009yde.3	-	1	162	c.59C>T	c.(58-60)tCg>tTg	p.S20L	IGF2_uc001lvf.3_5'Flank|IGF2_uc001lvg.3_Missense_Mutation_p.S20L|IGF2_uc009ydf.3_Missense_Mutation_p.S76L|IGF2_uc021qcb.1_Missense_Mutation_p.S20L|IGF2_uc001lvh.3_Missense_Mutation_p.S20L|IGF2_uc001lvi.3_Non-coding_Transcript|MIR483_uc021qcc.1_5'Flank|IGF2_uc001lvj.1_Non-coding_Transcript	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	Homo sapiens insulin-like growth factor 2 (somatomedin A) (IGF2), transcript variant 2, mRNA.	20					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of MAPKKK cascade|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		AATGCAGCACGAGGCGAAGGC	0.632000														30			11		0	0	0.001368	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37486386	37486386	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:37486386G>A	uc021ppc.1	+	28	2625	c.2526G>A	c.(2524-2526)aaG>aaA	p.K842K	ANKRD30A_uc001iza.1_Silent_p.K842K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	898						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						TGGAATTGAAGAATGAACAAA	0.338000														31			4		0	0	0.004482	0	0
SEC22B	9554	broad.mit.edu	37	1	145103977	145103977	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:145103977C>T	uc001eml.1	+	2	282	c.142C>T	c.(142-144)Cct>Tct	p.P48S	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) (SEC22B), mRNA.	49	Longin.				ER to Golgi vesicle-mediated transport|protein transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane|melanosome	protein binding										TGAACAGTCCCCTACCAGATG	0.393000														29			6		0	0	0.001984	0	0
SLIT3	6586	broad.mit.edu	37	5	168678442	168678442	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:168678442G>A	uc010jjg.3	-	1	639	c.219C>T	c.(217-219)atC>atT	p.I73I	SLIT3_uc003mab.3_Silent_p.I73I|SLIT3_uc010jji.2_Silent_p.I73I	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	73					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGATCCTGGTGATATTATTTC	0.438000														51			10		0	0	0.000978	0	0
AIM1L	55057	broad.mit.edu	37	1	26671957	26671957	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:26671957C>T	uc001bmd.4	-	1	1342	c.1192G>A	c.(1192-1194)Gac>Aac	p.D398N		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 9.						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)		GCAGGGGGGTCCACGGGCCCG	0.627000														23			11		0	0	0.000978	0	0
DPRX	503834	broad.mit.edu	37	19	54140241	54140241	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:54140241G>A	uc002qcf.1	+	2	626	c.575G>A	c.(574-576)tGa>tAa	p.*192*		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	Homo sapiens divergent-paired related homeobox (DPRX), mRNA.	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CGAGAGAGATGATAAATACAA	0.443000														61			32		0	0	0.002836	0	0
ARSD	414	broad.mit.edu	37	X	2827940	2827940	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:2827940G>C	uc004cqy.3	-	7	1316	c.1216C>G	c.(1216-1218)Cga>Gga	p.R406G		NM_001669	NP_001660	P51689	ARSD_HUMAN	Homo sapiens arylsulfatase D (ARSD), mRNA.	406						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		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)				CCAATCACTCGGCCGGCCGGG	0.637000														17			9		0	0	0.006214	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533881	31533881	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:31533881G>A	uc003aka.3	-	3	1010	c.881C>T	c.(880-882)tCc>tTc	p.S294F		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	294					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TGGGCTCCGGGAGCTGGGAGT	0.647000														85			22		0	0	0.002780	0	0
CUL4A	8451	broad.mit.edu	37	13	113899540	113899540	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:113899540C>T	uc021rmv.1	+	13	1530	c.1519C>T	c.(1519-1521)Cat>Tat	p.H507Y	CUL4A_uc021rmu.1_Missense_Mutation_p.H407Y|CUL4A_uc010agu.3_Missense_Mutation_p.H368Y|CUL4A_uc010tjz.2_Missense_Mutation_p.H186Y	NM_001008895	NP_003580	Q13619	CUL4A_HUMAN	Homo sapiens cullin 4A (CUL4A), transcript variant 1, mRNA.	507					DNA repair|G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CATCATGGTTCATTTCAAGCA	0.493000														29			11		0	0	0.002450	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717743	142717743	+	Silent	SNP	T	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:142717743T>G	uc022cfm.1	-	0	1182	c.1182A>C	c.(1180-1182)gtA>gtC	p.V394V	SLITRK4_uc022cfl.1_Silent_p.V394V|SLITRK4_uc004fbx.3_Silent_p.V394V|SLITRK4_uc004fby.3_Silent_p.V394V	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	394						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGTCTGATACGTCCACAT	0.393000														21			43		0	0	0.003214	0	0
OR51T1	401665	broad.mit.edu	37	11	4903640	4903640	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4903640C>T	uc010qyp.2	+	0	592	c.592C>T	c.(592-594)Cat>Tat	p.H198Y		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTGTCTTTTCATGGGGGTCA	0.463000														113			28		0	0	0.004656	0	0
CDH20	28316	broad.mit.edu	37	18	59221748	59221748	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:59221748C>T	uc010dps.1	+	10	2378	c.2226C>T	c.(2224-2226)ttC>ttT	p.F742F	CDH20_uc002lif.2_Silent_p.F736F	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	742					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CACCGCCCTTCGACTCCCTCC	0.642000														15			5		0	0	0.000602	0	0
ZNF366	167465	broad.mit.edu	37	5	71756184	71756184	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:71756184C>T	uc003kce.1	-	1	1326	c.1140G>A	c.(1138-1140)ctG>ctA	p.L380L		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	380					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)		GGTGTCTCTTCAGCTGGGCCA	0.627000														23			8		0	0	0.006214	0	0
COL21A1	81578	broad.mit.edu	37	6	56035641	56035641	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:56035641G>A	uc003pcs.3	-	4	1064	c.832C>T	c.(832-834)Cct>Tct	p.P278S	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.P278S|COL21A1_uc003pcu.1_Missense_Mutation_p.P278S	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	278	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TATGATGGAGGAAGACCTTCT	0.358000														24			6		0	0	0.001168	0	0
DUSP13	51207	broad.mit.edu	37	10	76855365	76855365	+	Missense_Mutation	SNP	C	T	T	rs146266949	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:76855365C>T	uc001jwr.3	-	2	425	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	DUSP13_uc001jws.3_3'UTR|DUSP13_uc001jwu.3_Missense_Mutation_p.R214Q|DUSP13_uc001jww.3_Missense_Mutation_p.R171Q|DUSP13_uc009xrs.3_Missense_Mutation_p.R214Q|DUSP13_uc001jwt.3_Missense_Mutation_p.R214Q|DUSP13_uc001jwv.3_Missense_Mutation_p.R121Q	NM_016364	NP_057448	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 6, mRNA.	112	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TCGGATGTATCGAGCAACAGG	0.542000														32			13		0	0	0.001368	0	0
KLF17	128209	broad.mit.edu	37	1	44595815	44595815	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:44595815G>A	uc001clp.3	+	1	930	c.872G>A	c.(871-873)gGa>gAa	p.G291E	KLF17_uc009vxf.1_Missense_Mutation_p.G254E	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	291					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G291E(2)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GAGAACTGCGGAAAAGCTTAT	0.577000														74			11		0	0	0.008291	0	0
SLC1A3	6507	broad.mit.edu	37	5	36677139	36677139	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:36677139T>G	uc003jkj.4	+	5	1189	c.713T>G	c.(712-714)gTg>gGg	p.V238G	SLC1A3_uc011cox.2_Missense_Mutation_p.V131G|SLC1A3_uc010iuy.3_Missense_Mutation_p.V238G	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	238					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	CCAGGATCTGTGAATGGAGTC	0.507000														33			10		0	0	0.008291	0	0
SLC30A8	169026	broad.mit.edu	37	8	118184871	118184871	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:118184871C>T	uc003yoh.3	+	7	1291	c.1061C>T	c.(1060-1062)cCa>cTa	p.P354L	SLC30A8_uc010mcz.3_Missense_Mutation_p.P305L|SLC30A8_uc003yog.3_Missense_Mutation_p.P305L|SLC30A8_uc011lia.2_Missense_Mutation_p.P305L|SLC30A8_uc022bab.1_Missense_Mutation_p.P305L	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	354					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			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)			ATGGAATCTCCAGTTGACCAG	0.512000														205			148		0	0	0.003610	0	0
EGFR	1956	broad.mit.edu	37	7	55266472	55266472	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:55266472G>A	uc003tqk.3	+	22	3010	c.2764G>A	c.(2764-2766)Gag>Aag	p.E922K	EGFR_uc022adm.1_Missense_Mutation_p.E922K|EGFR_uc010kzg.2_Missense_Mutation_p.E877K|EGFR_uc022adn.1_Missense_Mutation_p.E877K|EGFR_uc011kco.2_Missense_Mutation_p.E869K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	922	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S921R(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCCTGCCAGCGAGATCTCCTC	0.517000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				73			27		0	0	0.008361	0	0
ALK	238	broad.mit.edu	37	2	29754810	29754810	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:29754810G>A	uc002rmy.3	-	3	2077	c.1125C>T	c.(1123-1125)atC>atT	p.I375I		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	375	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCATCAGGAGGATCTCTCTTG	0.532000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					37			14		0	0	0.002450	0	0
SYN2	6854	broad.mit.edu	37	3	12208783	12208783	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:12208783C>T	uc003bwm.3	+	10	1182	c.1018C>T	c.(1018-1020)Ctg>Ttg	p.L340L	SYN2_uc003bwl.1_Silent_p.L340L|SYN2_uc003bwn.3_Silent_p.L18L	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	344					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						CTCTGCGATGCTGGAGCAGAT	0.522000														158			55		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	14	107211187	107211187	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:107211187C>T	uc021ser.1	-	15		c.1187G>A								Parts of antibodies, mostly variable regions.																		TCAGGGACCCCCCAGGCTGGA	0.622000														31			17		0	0	0.007413	0	0
HCK	3055	broad.mit.edu	37	20	30672286	30672286	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:30672286C>T	uc002wxh.3	+	7	1012	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	HCK_uc010gdy.3_Missense_Mutation_p.R239W|HCK_uc021wbv.1_Missense_Mutation_p.R238W|HCK_uc002wxi.3_Missense_Mutation_p.R237W	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	259					interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGAGATCCCTCGGGAATCCCT	0.602000														37			5		0	0	0.001168	0	0
EPHA3	2042	broad.mit.edu	37	3	89259197	89259197	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:89259197G>A	uc003dqy.3	+	2	566	c.341G>A	c.(340-342)gGa>gAa	p.G114E	EPHA3_uc003dqx.1_Missense_Mutation_p.G114E|EPHA3_uc021xbf.1_Missense_Mutation_p.G114E	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	114						extracellular region|integral to plasma membrane	ATP binding	p.G114E(2)		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)		TTGGTTTTAGGAACTTGCAAG	0.438000										TSP Lung(6;0.00050)				58			34		0	0	0.002445	0	0
MIR205HG	642587	broad.mit.edu	37	1	209602733	209602733	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:209602733G>A	uc009xcn.3	+	1	474	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	MIR205HG_uc010psk.2_5'Flank	NM_001104548	NP_001098018			Homo sapiens MIR205 host gene (non-protein coding) (MIR205HG), mRNA.																		CAGGCCTGCTGAACTGGGTGC	0.433000														14			8		0	0	0.008291	0	0
SLC16A7	9194	broad.mit.edu	37	12	60173326	60173326	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:60173326G>A	uc001sqs.3	+	5	1602	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	SLC16A7_uc001sqt.3_Missense_Mutation_p.E435K|SLC16A7_uc001squ.3_Missense_Mutation_p.E435K|SLC16A7_uc009zqi.3_Missense_Mutation_p.E336K|SLC16A7_uc010ssi.2_Missense_Mutation_p.E336K	NM_004731	NP_004722	O60669	MOT2_HUMAN	Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA.	435						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	GCTTGCAAAGGAAAGGAAGGA	0.418000														12			3		0	0	0.004672	0	0
IDO1	3620	broad.mit.edu	37	8	39775453	39775453	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:39775453C>T	uc003xnm.3	+	1	261	c.147C>T	c.(145-147)ctC>ctT	p.L49L		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	49					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	TGCCTGATCTCATAGAGTCTG	0.323000														27			8		0	0	0.003080	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111697971	111697971	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:111697971G>A	uc022cct.1	+	0	15	c.15G>A	c.(13-15)acG>acA	p.T5T	ZCCHC16_uc004epo.1_Silent_p.T5T	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	5							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGAAGTGCACGAAATCATCAT	0.458000														22			36		0	0	0.005524	0	0
RASSF2	9770	broad.mit.edu	37	20	4768320	4768320	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:4768320A>G	uc002wld.3	-	8	826	c.772T>C	c.(772-774)Ttc>Ctc	p.F258L	RASSF2_uc002wlc.3_Non-coding_Transcript|RASSF2_uc002wlf.3_Missense_Mutation_p.F258L	NM_170774	NP_739580	P50749	RASF2_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA.	258	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TCCATTAGGAACACTTTGGAG	0.557000														27			16		0	0	0.004007	0	0
FREM1	158326	broad.mit.edu	37	9	14819263	14819263	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:14819263A>T	uc003zlm.3	-	14	3331	c.2515T>A	c.(2515-2517)Tct>Act	p.S839T	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	839					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.S840fs*8(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCGCCCCAAGAAAATGTGCCC	0.428000														23			10		0	0	0.000978	0	0
DENND2A	27147	broad.mit.edu	37	7	140301735	140301735	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:140301735C>T	uc010lnk.3	-	2	983	c.463G>A	c.(463-465)Gat>Aat	p.D155N	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.D155N|DENND2A_uc003vvw.3_Missense_Mutation_p.D155N|DENND2A_uc003vvx.3_Missense_Mutation_p.D155N	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	155										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GAGAGGGGATCGTTCTGAAAG	0.602000														53			28		0	0	0.004656	0	0
IKBKB	3551	broad.mit.edu	37	8	42162742	42162742	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:42162742C>T	uc003xow.2	+	5	612	c.426C>T	c.(424-426)atC>atT	p.I142I	IKBKB_uc003xov.3_Silent_p.I142I|IKBKB_uc010lxh.2_Silent_p.I37I|IKBKB_uc011lco.2_Non-coding_Transcript|IKBKB_uc003xox.2_5'UTR|IKBKB_uc010lxj.2_Intron|IKBKB_uc011lcp.2_Non-coding_Transcript|IKBKB_uc011lcq.2_Silent_p.I140I|IKBKB_uc010lxi.2_Non-coding_Transcript|IKBKB_uc011lcr.2_Silent_p.I83I	NM_001556	NP_001547	O14920	IKKB_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKBKB), transcript variant 1, mRNA.	142	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|IkappaB kinase activity|identical protein binding			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	ACAGAATCATCCATCGGGATC	0.498000														27			11		0	0	0.001368	0	0
PCLO	27445	broad.mit.edu	37	7	82475901	82475901	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82475901G>A	uc003uhx.2	-	11	14102	c.13813C>T	c.(13813-13815)Cat>Tat	p.H4605Y	PCLO_uc003uhv.2_Missense_Mutation_p.H4605Y|PCLO_uc003uht.1_Missense_Mutation_p.H56Y|PCLO_uc003uhu.1_Missense_Mutation_p.H35Y	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4493	C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTGGCTCATGAAGTTCCAGA	0.333000														32			9		0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179478868	179478868	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179478868T>A	uc021vsy.1	-	210	41777	c.41552A>T	c.(41551-41553)aAa>aTa	p.K13851I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Non-coding_Transcript|TTN_uc021vsz.1_Missense_Mutation_p.K7546I|TTN_uc021vta.1_Missense_Mutation_p.K7479I|TTN_uc021vtb.1_Missense_Mutation_p.K7354I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14778							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)			GATGTACTCTTTATTGGGGAT	0.433000														17			4		0	0	0.000602	0	0
ZNF768	79724	broad.mit.edu	37	16	30536387	30536387	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:30536387G>A	uc002dyk.4	-	1	1250	c.1074C>T	c.(1072-1074)tcC>tcT	p.S358S	ZNF768_uc010vex.2_Silent_p.S327S|ZNF768_uc010vew.2_Silent_p.S327S	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	358					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCAGGAGGTAGGAGCTGTCGC	0.637000														17			8		0	0	0.008291	0	0
FAM90A1	55138	broad.mit.edu	37	12	8375251	8375251	+	Nonsense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:8375251T>A	uc001qui.2	-	6	1121	c.562A>T	c.(562-564)Aaa>Taa	p.K188*	FAM90A1_uc001quh.2_Nonsense_Mutation_p.K188*	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	188							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		AGACTGGCTTTTCTGAGGGGA	0.587000														27			49		0	0	0.003610	0	0
ARAP1	116985	broad.mit.edu	37	11	72437979	72437979	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:72437979G>A	uc001osu.3	-	2	384	c.195C>T	c.(193-195)ctC>ctT	p.L65L	ARAP1_uc001osv.3_Silent_p.L65L	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	65	SAM.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TATGGGCACGGAGCAGGCCAG	0.687000														148			81		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	2	90249257	90249257	+	RNA	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:90249257T>A	uc010yts.2	+	39		c.5092T>A								Parts of antibodies, mostly variable regions.																		TCTTCATCTATTATGCATCCA	0.502000														110			30		0	0	0.002836	0	0
EP400	57634	broad.mit.edu	37	12	132562175	132562175	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:132562175C>T	uc001ujn.3	+	52	9481	c.9329C>T	c.(9328-9330)cCt>cTt	p.P3110L	EP400_uc021rgq.1_Missense_Mutation_p.P3109L|EP400_uc001ujm.3_Missense_Mutation_p.P3029L|EP400_uc001ujp.3_Missense_Mutation_p.P320L|EP400_uc010tbo.2_Silent_p.P176P	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	3146					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ATGAGGGTCCCTGCTGTCAGG	0.612000														7			6		0	0	0.001168	0	0
BCL9L	283149	broad.mit.edu	37	11	118769796	118769796	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:118769796G>A	uc001pug.3	-	7	4793	c.3828C>T	c.(3826-3828)ccC>ccT	p.P1276P	BCL9L_uc009zal.3_Silent_p.P1271P	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	1276	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGTGCTGCTGGGGAGGCATGG	0.716000														10			6		0	0	0.001984	0	0
ATP2B3	492	broad.mit.edu	37	X	152825335	152825335	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:152825335T>A	uc004fht.1	+	15	2900	c.2774T>A	c.(2773-2775)aTg>aAg	p.M925K	ATP2B3_uc004fhs.1_Missense_Mutation_p.M925K|ATP2B3_uc010nuf.1_5'Flank|ATP2B3_uc004fhu.1_5'Flank	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	925					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCCGCACCATGATGAAGAAC	0.637000														7			13		0	0	0.001855	0	0
PRKCB	5579	broad.mit.edu	37	16	24196465	24196465	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:24196465G>A	uc002dmd.3	+	13	1764	c.1567G>A	c.(1567-1569)Gat>Aat	p.D523N	PRKCB_uc002dme.3_Missense_Mutation_p.D523N	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	523	Protein kinase.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GAAGTCCGTGGATTGGTGGGC	0.458000														80			16		0	0	0.004007	0	0
CNN1	1264	broad.mit.edu	37	19	11660273	11660273	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:11660273G>A	uc002msc.1	+	5	801	c.637G>A	c.(637-639)Gga>Aga	p.G213R	CNN1_uc010xmb.1_Missense_Mutation_p.G163R|CNN1_uc010xmc.1_Missense_Mutation_p.G163R	NM_001299	NP_001290	P51911	CNN1_HUMAN	Homo sapiens calponin 1, basic, smooth muscle (CNN1), mRNA.	213					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						CACCAACAAAGGAGCCAGCCA	0.692000														24			12		0	0	0.001368	0	0
EFCAB6	64800	broad.mit.edu	37	22	43996129	43996129	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:43996129C>T	uc003bdy.2	-	22	3010	c.2696G>A	c.(2695-2697)gGa>gAa	p.G899E	EFCAB6_uc003bdz.2_Missense_Mutation_p.G747E|EFCAB6_uc010gzi.2_Missense_Mutation_p.G747E|EFCAB6_uc010gzj.1_Missense_Mutation_p.G125E	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	899	EF-hand 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.G899V(2)|p.E898K(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GTGCCCTTTTCCCTCGGTGTC	0.428000														94			17		0	0	0.004990	0	0
DUSP27	92235	broad.mit.edu	37	1	167097064	167097064	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:167097064C>T	uc001geb.1	+	4	2712	c.2696C>T	c.(2695-2697)tCt>tTt	p.S899F		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	899	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TTCCGATATTCTTCCCGCAGT	0.502000														29			12		0	0	0.002450	0	0
OR52E8	390079	broad.mit.edu	37	11	5878069	5878069	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5878069G>A	uc010qzr.2	-	0	864	c.864C>T	c.(862-864)gtC>gtT	p.V288V	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCTGGTGGGACAACCACAT	0.408000														80			43		0	0	0.007835	0	0
SLC25A34	284723	broad.mit.edu	37	1	16063165	16063165	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:16063165G>A	uc001axb.1	+	0	357	c.185G>A	c.(184-186)cGa>cAa	p.R62Q		NM_207348	NP_997231	Q6PIV7	S2534_HUMAN	Homo sapiens solute carrier family 25, member 34 (SLC25A34), mRNA.	62					transport	integral to membrane|mitochondrial inner membrane				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGTGGCCCGAGCAGACGGG	0.662000														25			7		0	0	0.003080	0	0
DSCAML1	57453	broad.mit.edu	37	11	117299164	117299164	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:117299164C>T	uc001prh.1	-	32	6224	c.6222G>A	c.(6220-6222)ggG>ggA	p.G2074G		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	2014					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGTGTGGGCCCCCGGCTCGTG	0.736000														9			7		0	0	0.004482	0	0
SYN3	8224	broad.mit.edu	37	22	32924936	32924936	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:32924936C>T	uc003amx.3	-	9	1317	c.1155G>A	c.(1153-1155)atG>atA	p.M385I	SYN3_uc003amy.3_Missense_Mutation_p.M385I|SYN3_uc003amz.3_Missense_Mutation_p.M384I|SYN3_uc011amc.1_Missense_Mutation_p.M19I	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	385	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	p.L384L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CAAGGTCGGCCATCAGCTGTC	0.592000											OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		33			8		0	0	0.000978	0	0
HECW2	57520	broad.mit.edu	37	2	197182016	197182016	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:197182016C>T	uc002utm.1	-	9	2599	c.2416G>A	c.(2416-2418)Gac>Aac	p.D806N	HECW2_uc002utl.1_Missense_Mutation_p.D450N	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	806	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.D806E(2)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGAGCCTCGTCCACCCTCTGG	0.517000														16			5		0	0	0.000602	0	0
FERMT1	55612	broad.mit.edu	37	20	6078265	6078265	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:6078265C>T	uc002wmr.3	-	6	1652	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	FERMT1_uc010gbt.3_Missense_Mutation_p.R31Q|FERMT1_uc002wms.3_Missense_Mutation_p.R288Q|FERMT1_uc002wmt.3_Missense_Mutation_p.R31Q	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	288	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TTGGTTTATTCGGACAGCATC	0.403000														59			8		0	0	0.003080	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208481	140208481	+	Missense_Mutation	SNP	C	T	T	rs138760871		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140208481C>T	uc003lho.2	+	0	832	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.R269W|PCDHAC2_uc011dab.2_Missense_Mutation_p.R269W	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	284	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTTCTGATCGGGATGAAGG	0.398000														35			13		0	0	0.001855	0	0
HYDIN	54768	broad.mit.edu	37	16	70926315	70926315	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:70926315G>A	uc002ezr.3	-	55	9514	c.9363C>T	c.(9361-9363)ttC>ttT	p.F3121F		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3122										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)				TTTTTGCATGGAAGAAAACTT	0.463000														69			11		0	0	0.001855	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166600	180166600	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:180166600G>A	uc003mmf.1	-	0	459	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGAGTTCACGAAACCCGCAC	0.552000														14			4		0	0	0.009096	0	0
KDR	3791	broad.mit.edu	37	4	55970896	55970896	+	Nonsense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:55970896A>T	uc003has.3	-	12	2203	c.1901T>A	c.(1900-1902)tTg>tAg	p.L634*	KDR_uc003hat.1_Nonsense_Mutation_p.L634*|KDR_uc011bzx.2_Nonsense_Mutation_p.L634*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	634	Ig-like C2-type 6.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTGGTCCTGCAAGGATGCATT	0.443000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				15			14		0	0	0.001855	0	0
C2CD3	26005	broad.mit.edu	37	11	73748573	73748573	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:73748573A>C	uc001ouu.2	-	29	6058	c.5831T>G	c.(5830-5832)aTc>aGc	p.I1944S	C2CD3_uc001out.3_Non-coding_Transcript	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1944						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)					TTTCTCCAGGATACACTGGCT	0.522000														101			58		0	0	0.003610	0	0
SULF2	55959	broad.mit.edu	37	20	46365604	46365605	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:46365604_46365605GG>AT	uc002xto.3	-	2	587_588	c.257_258CC>AT	c.(256-258)ccc>cAT	p.P86H	SULF2_uc002xtr.3_Missense_Mutation_p.P86H|SULF2_uc002xtq.3_Missense_Mutation_p.P86H|SULF2_uc010ghv.1_Missense_Mutation_p.P86H	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	86					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GGCAGCACATGGGTGTGGTCAC	0.589000														41			5		0	0	0.004672	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709131	176709131	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:176709131C>T	uc001gkz.3	+	13	5114	c.3950C>T	c.(3949-3951)tCa>tTa	p.S1317L	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1317					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TATGGACTGTCATGCCAGCAT	0.408000														74			28		0	0	0.002836	0	0
FCRL5	83416	broad.mit.edu	37	1	157514687	157514687	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:157514687G>A	uc009wsm.3	-	3	651	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	FCRL5_uc001fqu.3_Missense_Mutation_p.R165C|FCRL5_uc010phv.1_Missense_Mutation_p.R165C|FCRL5_uc010phw.1_Missense_Mutation_p.R80C|FCRL5_uc001fqv.1_Missense_Mutation_p.R165C|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	165						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCAGTACAGCGATATGCACCA	0.368000														83			14		0	0	0.002450	0	0
TNFSF18	8995	broad.mit.edu	37	1	173013110	173013110	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:173013110C>T	uc001giu.2	-	2	224	c.223_splice	c.e2-1	p.T75_splice		NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA.	75					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						CCTTAGCAGTCTGTTGGGGAA	0.358000														77			29		0	0	0.002836	0	0
ZNF138	7697	broad.mit.edu	37	7	64292269	64292269	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:64292269C>T	uc011kdq.2	+	2	747	c.571C>T	c.(571-573)Cat>Tat	p.H191Y	ZNF138_uc003ttg.3_Missense_Mutation_p.H160Y|ZNF138_uc003tth.3_Non-coding_Transcript|ZNF138_uc010kzs.3_Missense_Mutation_p.H185Y|ZNF138_uc011kdp.2_3'UTR	NM_006524	NP_006515	B4DP87	B4DP87_HUMAN	Homo sapiens zinc finger protein 138 (ZNF138), transcript variant 1, mRNA.	191					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				TAAGAAAATTCATACTGGAGA	0.333000														23			18		0	0	0.007413	0	0
SORL1	6653	broad.mit.edu	37	11	121414293	121414293	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:121414293C>T	uc001pxx.3	+	12	1851	c.1722C>T	c.(1720-1722)ttC>ttT	p.F574F		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	574					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGAAAACATTCATCTTCTCTG	0.468000														60			8		0	0	0.004482	0	0
TNC	3371	broad.mit.edu	37	9	117849292	117849292	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:117849292C>T	uc004bjj.4	-	2	1130	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	TNC_uc010mvf.3_Missense_Mutation_p.E240K|TNC_uc022bmj.1_Missense_Mutation_p.E240K	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	240	EGF-like 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GCGTAGCCTTCGAAACAGATG	0.607000														34			15		0	0	0.004007	0	0
MYO3A	53904	broad.mit.edu	37	10	26315456	26315456	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:26315456G>A	uc001isn.2	+	9	1308	c.948G>A	c.(946-948)aaG>aaA	p.K316K	MYO3A_uc009xko.1_Silent_p.K316K|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Silent_p.K316K	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	316					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GCACAGAAAAGGCCAGGTAAT	0.323000														19			8		0	0	0.008291	0	0
ZNF280D	54816	broad.mit.edu	37	15	56993168	56993168	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:56993168G>A	uc002adu.3	-	5	561	c.344C>T	c.(343-345)tCa>tTa	p.S115L	ZNF280D_uc002adv.3_Missense_Mutation_p.S102L|ZNF280D_uc010bfq.3_Missense_Mutation_p.S115L|ZNF280D_uc002adw.1_Missense_Mutation_p.S143L|ZNF280D_uc010bfr.1_Non-coding_Transcript|ZNF280D_uc002ady.3_Missense_Mutation_p.S115L|ZNF280D_uc002adx.3_Missense_Mutation_p.S115L	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		AGAACTATCTGAAGATCTAGA	0.388000														21			6		0	0	0.001984	0	0
PDE4B	5142	broad.mit.edu	37	1	66384349	66384349	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:66384349G>A	uc001dcn.3	+	2	303	c.112G>A	c.(112-114)Gac>Aac	p.D38N	PDE4B_uc009war.3_Intron|PDE4B_uc001dco.3_Missense_Mutation_p.D38N	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN	Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	38					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.I37I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	ACTTGGGATCGACCTCTGGAG	0.433000														43			20		0	0	0.001882	0	0
SYCP1	6847	broad.mit.edu	37	1	115420732	115420732	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:115420732C>T	uc001efr.3	+	11	1028	c.819C>T	c.(817-819)atC>atT	p.I273I	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Silent_p.I273I|SYCP1_uc009wgw.3_Silent_p.I273I	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	273					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTATTGATCCAAATCACTG	0.239000														27			9		0	0	0.004482	0	0
TG	7038	broad.mit.edu	37	8	133925407	133925407	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:133925407C>T	uc003ytw.3	+	19	4316	c.4275C>T	c.(4273-4275)ctC>ctT	p.L1425L	TG_uc010mdw.3_Silent_p.L184L	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1425					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCCGCTTCCTCCAAGGGGACC	0.557000														41			7		0	0	0.001984	0	0
OR51L1	119682	broad.mit.edu	37	11	5020604	5020604	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5020604C>T	uc010qyu.2	+	0	392	c.392C>T	c.(391-393)cCa>cTa	p.P131L		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCTGCCATCCACTGCACTAC	0.493000														108			42		0	0	0.002852	0	0
CDH11	1009	broad.mit.edu	37	16	65022165	65022165	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:65022165T>C	uc002eoi.3	-	6	1328	c.894A>G	c.(892-894)ggA>ggG	p.G298G	CDH11_uc010cdn.3_Intron|CDH11_uc002eoj.3_Silent_p.G298G|CDH11_uc010vin.2_Silent_p.G172G	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	298	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGCCATTTTCTCCAATGTCTG	0.443000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				65			32		0	0	0.008361	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23002145	23002145	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:23002145G>A	uc003xcz.1	-	6	864	c.772C>T	c.(772-774)Ctt>Ttt	p.L258F		NM_003840	NP_003831	Q9UBN6	TR10D_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain (TNFRSF10D), mRNA.	258					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CGCCGGAAAAGGACCTTGGGA	0.597000														33			9		0	0	0.006214	0	0
ABCC11	85320	broad.mit.edu	37	16	48239429	48239429	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:48239429G>A	uc002eff.1	-	11	2050	c.1700C>T	c.(1699-1701)tCg>tTg	p.S567L	ABCC11_uc002efg.1_Missense_Mutation_p.S567L|ABCC11_uc002efh.1_Missense_Mutation_p.S567L|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	567	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CACCCCCACCGAGCCCTCGAG	0.627000														46			23		0	0	0.005443	0	0
KALRN	8997	broad.mit.edu	37	3	123987907	123987907	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:123987907C>T	uc003ehg.3	+	4	895	c.768C>T	c.(766-768)atC>atT	p.I256I	KALRN_uc010hrv.1_Silent_p.I256I|KALRN_uc003ehf.1_Silent_p.I256I|KALRN_uc011bjy.1_Silent_p.I256I	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	256					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGCAGTGCATCCGCTGCAGCG	0.622000														16			7		0	0	0.001984	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625948	140625948	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140625948G>A	uc003lje.3	+	0	802	c.802G>A	c.(802-804)Gat>Aat	p.D268N		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	268	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCTGCTAGGGATTTAGACAC	0.498000														9			5		0	0	0.000602	0	0
NLRP9	338321	broad.mit.edu	37	19	56244734	56244734	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:56244734C>T	uc002qly.3	-	1	491	c.463G>A	c.(463-465)Gga>Aga	p.G155R		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	155	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTTCCAATTCCATCAGGACCT	0.413000														62			8		0	0	0.006214	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711558	155711558	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:155711558C>T	uc002tyv.1	+	2	1434	c.1239C>T	c.(1237-1239)ccC>ccT	p.P413P	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	413					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.F412F(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AAGACTTTCCCAAAAAACTCT	0.388000														60			24		0	0	0.002299	0	0
CCDC142	84865	broad.mit.edu	37	2	74707920	74707920	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:74707920G>A	uc002slr.3	-	4	1872	c.1479C>T	c.(1477-1479)atC>atT	p.I493I	TTC31_uc002sls.2_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.3_Non-coding_Transcript|CCDC142_uc002slq.3_Silent_p.I486I|CCDC142_uc002slp.2_Silent_p.I493I	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	Homo sapiens coiled-coil domain containing 142 (CCDC142), mRNA.	493										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						TCAGCTTCTGGATCTCCAGGC	0.547000														53			11		0	0	0.004007	0	0
DAB2	1601	broad.mit.edu	37	5	39381674	39381674	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:39381674G>A	uc003jlx.3	-	10	1917	c.1386C>T	c.(1384-1386)ccC>ccT	p.P462P	DAB2_uc003jlw.3_Silent_p.P441P	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	462					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.P462P(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GTTCTGAGACGGGAGGAGCAA	0.537000														54			13		0	0	0.001368	0	0
MSR1	4481	broad.mit.edu	37	8	16007775	16007775	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:16007775C>T	uc010lsu.3	-	6	1062	c.998G>A	c.(997-999)gGa>gAa	p.G333E	MSR1_uc003wwz.3_Missense_Mutation_p.G315E|MSR1_uc003wxa.3_Missense_Mutation_p.G315E|MSR1_uc003wxb.3_Missense_Mutation_p.G315E|MSR1_uc011kxz.2_Missense_Mutation_p.G89E	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	315	Collagen-like.				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)		TCCTCGACTTCCAGGAAAGCC	0.368000														27			19		0	0	0.002780	0	0
CGNL1	84952	broad.mit.edu	37	15	57730485	57730485	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:57730485G>A	uc010bfw.3	+	2	481	c.288G>A	c.(286-288)gaG>gaA	p.E96E	CGNL1_uc002aeg.3_Silent_p.E96E	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	96	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TGCCAAAGGAGAACAGTGAAG	0.498000														40			15		0	0	0.002450	0	0
ART1	417	broad.mit.edu	37	11	3681445	3681445	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:3681445C>T	uc001lye.1	+	2	797	c.696C>T	c.(694-696)taC>taT	p.Y232Y	ART1_uc009yeb.1_Silent_p.Y232Y	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	232					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	TCAAGGGCTACTCCTTCTTCC	0.597000														43			9		0	0	0.004482	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274273	103274273	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:103274273T>A	uc002tca.3	+	1	682	c.540T>A	c.(538-540)aaT>aaA	p.N180K		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	180						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CACTTTGGAATTCCATTGGCA	0.502000														143			50		0	0	0.003610	0	0
GRIK2	2898	broad.mit.edu	37	6	102307279	102307279	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:102307279G>A	uc003pqp.4	+	9	1728	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	GRIK2_uc003pqn.3_Missense_Mutation_p.E479K|GRIK2_uc010kcw.3_Missense_Mutation_p.E479K|GRIK2_uc003pqo.4_Missense_Mutation_p.E479K|GRIK2_uc021zdk.1_Missense_Mutation_p.E479K|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	479					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CTTTACATATGAAATTAGACT	0.388000														30			12		0	0	0.001368	0	0
ZNF507	22847	broad.mit.edu	37	19	32873629	32873629	+	Silent	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:32873629G>T	uc002nte.3	+	6	2774	c.2502G>T	c.(2500-2502)ctG>ctT	p.L834L	ZNF507_uc002ntd.3_Silent_p.L834L	NM_001136156	NP_055725	Q8TCN5	ZN507_HUMAN	Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA.	834					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TAAGAGTTCTGGGGAAATCCC	0.403000														53			22		3.08376e-08	3.38936e-08	0.003330	1	0
CRTAM	56253	broad.mit.edu	37	11	122722430	122722430	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:122722430C>T	uc001pyj.3	+	2	223	c.223C>T	c.(223-225)Cat>Tat	p.H75Y		NM_019604	NP_062550	O95727	CRTAM_HUMAN	Homo sapiens cytotoxic and regulatory T cell molecule (CRTAM), mRNA.	75	Ig-like V-type.				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding	p.H75Q(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CCAGCTTCTTCATCACTCGGC	0.438000														35			25		0	0	0.004656	0	0
FAAH2	158584	broad.mit.edu	37	X	57337090	57337090	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:57337090G>A	uc004dvc.3	+	2	489	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	114						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GCAGGAAGATGAAGCCACCCT	0.408000										HNSCC(52;0.14)				7			10		0	0	0.006214	0	0
CCDC42	146849	broad.mit.edu	37	17	8644972	8644972	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:8644972C>T	uc002gln.3	-	3	539	c.312G>A	c.(310-312)cgG>cgA	p.R104R	CCDC42_uc002glo.3_Silent_p.R104R	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA.	104										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TGGCGCGGATCCGTTTCTGGT	0.672000														5			11		0	0	0.008291	0	0
ZNF98	148198	broad.mit.edu	37	19	22586269	22586269	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:22586269C>T	uc002nqt.2	-	1	198	c.76G>A	c.(76-78)Gag>Aag	p.E26K		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	26	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CATTGCCACTCCTCCAGAGAG	0.403000														43			14		0	0	0.001855	0	0
UBQLN1	29979	broad.mit.edu	37	9	86284156	86284156	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:86284156G>A	uc004amv.3	-	6	1766	c.1192C>T	c.(1192-1194)Ccc>Tcc	p.P398S	UBQLN1_uc004amw.3_Missense_Mutation_p.P398S	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	Homo sapiens ubiquilin 1 (UBQLN1), transcript variant 1, mRNA.	398					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						CTCATGTAGGGGGCAGACAAC	0.413000														20			9		0	0	0.004482	0	0
OR5M10	390167	broad.mit.edu	37	11	56344834	56344834	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56344834G>A	uc001niz.1	-	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GCTACATAGCGATCCAATGCC	0.453000														48			12		0	0	0.000978	0	0
MUC16	94025	broad.mit.edu	37	19	9089446	9089446	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9089446G>A	uc002mkp.3	-	0	2573	c.2369C>T	c.(2368-2370)tCc>tTc	p.S790F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	790	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T789P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCAGAGGGGAAGTTGCATT	0.507000														125			72		0	0	0.003610	0	0
LOC392232	392232	broad.mit.edu	37	8	73150368	73150368	+	RNA	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:73150368G>A	uc022avu.1	-	5		c.804C>T								Homo sapiens transient receptor potential cation channel, subfamily A, member 1 pseudogene (LOC392232), non-coding RNA.																		ACAGCCAGATGGAGAGGGCTG	0.418000														18			4		0	0	0.000602	0	0
USH2A	7399	broad.mit.edu	37	1	215987169	215987169	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:215987169C>T	uc001hku.1	-	48	10035	c.9648G>A	c.(9646-9648)ctG>ctA	p.L3216L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3216					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGTAGAATTCAGAACAAACG	0.438000										HNSCC(13;0.011)				32			28		0	0	0.005443	0	0
FNDC9	408263	broad.mit.edu	37	5	156770295	156770295	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:156770295G>A	uc003lwu.2	-	1	438	c.250C>T	c.(250-252)Cct>Tct	p.P84S	CYFIP2_uc021ygm.1_Intron|CYFIP2_uc011ddn.2_Intron|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Intron|CYFIP2_uc021ygo.1_Intron|CYFIP2_uc003lwt.3_Intron|CYFIP2_uc011ddp.2_Intron|FNDC9_uc021ygp.1_Missense_Mutation_p.P84S	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	Homo sapiens fibronectin type III domain containing 9 (FNDC9), mRNA.	84	Fibronectin type-III.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TGCCTGTAAGGGAAGGCAGCC	0.567000											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			14		0	0	0.002450	0	0
IL12RB1	3594	broad.mit.edu	37	19	18177429	18177429	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:18177429G>A	uc002nhx.1	-	12	1577	c.1526C>T	c.(1525-1527)tCc>tTc	p.S509F	IL12RB1_uc002nhw.1_Missense_Mutation_p.S469F|IL12RB1_uc010xqb.1_Missense_Mutation_p.S469F	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	469	Fibronectin type-III 5.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GCTCAGCAGGGATGGTGCCCA	0.567000														79			50		0	0	0.003610	0	0
HAUS6	54801	broad.mit.edu	37	9	19058421	19058421	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:19058421C>T	uc003znk.3	-	15	2597	c.2344G>A	c.(2344-2346)Gaa>Aaa	p.E782K	HAUS6_uc011lmz.2_Missense_Mutation_p.E502K|HAUS6_uc022bdv.1_Missense_Mutation_p.E646K|HAUS6_uc003znl.1_Missense_Mutation_p.E646K	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA.	782					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCAACTTCTTCCGGGAGAGTT	0.348000														33			4		0	0	0.000602	0	0
RIMS2	9699	broad.mit.edu	37	8	105263968	105263968	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:105263968C>T	uc003yls.3	+	27	4265	c.4024C>T	c.(4024-4026)Cca>Tca	p.P1342S	RIMS2_uc003ylp.3_Missense_Mutation_p.P1324S|RIMS2_uc003ylq.3_Missense_Mutation_p.P1138S|RIMS2_uc003ylr.3_Missense_Mutation_p.P1163S	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1386	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCTAGTAGATCCAACCTTGGC	0.433000										HNSCC(12;0.0054)				97			39		0	0	0.006999	0	0
PLXNA1	5361	broad.mit.edu	37	3	126723967	126723967	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:126723967C>T	uc003ejg.3	+	5	1778	c.1778C>T	c.(1777-1779)tCa>tTa	p.S593L		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	593					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCTGACCTCTCAGCTGGCGTC	0.662000														22			10		0	0	0.006214	0	0
PDK4	5166	broad.mit.edu	37	7	95222119	95222119	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:95222119C>T	uc003uoa.3	-	3	802	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	PDK4_uc003unz.3_5'Flank	NM_002612	NP_002603	Q16654	PDK4_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 4 (PDK4), nuclear gene encoding mitochondrial protein, mRNA.	161	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.R161Q(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			CATGTAAAATCGATCCAAGAA	0.383000														30			34		0	0	0.002836	0	0
PHF20L1	51105	broad.mit.edu	37	8	133844532	133844532	+	Silent	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:133844532T>A	uc003ytt.3	+	14	2122	c.1797T>A	c.(1795-1797)tcT>tcA	p.S599S	PHF20L1_uc011lja.2_Silent_p.S573S	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	599							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GGTGCTCTTCTCCACTAACTC	0.393000														70			27		0	0	0.002445	0	0
IL36G	56300	broad.mit.edu	37	2	113742450	113742450	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:113742450G>A	uc002tio.1	+	4	403	c.334G>A	c.(334-336)Gag>Aag	p.E112K	IL36G_uc010fkr.1_Missense_Mutation_p.E77K	NM_019618	NP_062564	Q9NZH8	IL36G_HUMAN	Homo sapiens interleukin 36, gamma (IL36G), mRNA.	112					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.P111P(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						TGGCCAACCCGAGCCCGTGAA	0.493000														70			43		0	0	0.003610	0	0
KHDC1	80759	broad.mit.edu	37	6	73951256	73951256	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:73951256G>A	uc003pgo.3	-	4	1211	c.710C>T	c.(709-711)cCg>cTg	p.P237L	KHDC1_uc011dyl.1_Intron|KHDC1_uc003pgn.4_Missense_Mutation_p.P164L	NM_001251874	NP_001238803	Q4VXA5	KHDC1_HUMAN	Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 1, mRNA.	237						integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						CCTTAATTACGGATACAGTGA	0.468000														61			33		0	0	0.003755	0	0
C13orf35	400165	broad.mit.edu	37	13	113333696	113333696	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:113333696G>A	uc001vsh.1	+	1	761	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_207440	NP_997323	Q6ZP68	CM035_HUMAN	Homo sapiens chromosome 13 open reading frame 35 (C13orf35), mRNA.	1										breast(1)|lung(2)|ovary(1)|prostate(1)	5	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		all cancers(43;0.201)			TTGTTAGGATGAACTCACCAG	0.552000														35			7		0	0	0.001984	0	0
PON1	5444	broad.mit.edu	37	7	95025659	95025659	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:95025659C>T	uc011kih.2	-	0	29	c.4G>A	c.(4-6)Ggg>Agg	p.G2R	PON1_uc003unt.3_Missense_Mutation_p.G2R|PON1_uc011kii.2_Missense_Mutation_p.G2R			P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	2					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	ACGAGCTTCCCCATGGTCTCG	0.701000														36			21		0	0	0.003330	0	0
OR13C2	392376	broad.mit.edu	37	9	107367602	107367602	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:107367602G>A	uc011lvq.2	-	0	307	c.307C>T	c.(307-309)Ctc>Ttc	p.L103F		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCCAAGCCGAGGAACATCTGC	0.517000														71			23		0	0	0.004656	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529180	5529180	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5529180C>T	uc021qcw.1	-	0	1609	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.E537K	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	537										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGAGGTGCTTCAGTAGCTAGG	0.577000														35			25		0	0	0.004656	0	0
CYP27B1	1594	broad.mit.edu	37	12	58158425	58158425	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:58158425A>G	uc001sqc.1	-	2	875	c.716T>C	c.(715-717)cTt>cCt	p.L239P	CYP27B1_uc001spz.1_Intron|CYP27B1_uc001sqa.1_Intron|CYP27B1_uc001sqb.1_Intron			O15528	CP27B_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), nuclear gene encoding mitochondrial protein, mRNA.	0					G1 to G0 transition|bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	p.P239S(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	CAGGGTGCTAAGCCAAGCTGG	0.552000														9			11		0	0	0.008291	0	0
MSR1	4481	broad.mit.edu	37	8	16021701	16021701	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:16021701T>A	uc010lsu.3	-	4	808	c.744A>T	c.(742-744)aaA>aaT	p.K248N	MSR1_uc003wwz.3_Missense_Mutation_p.K230N|MSR1_uc003wxa.3_Missense_Mutation_p.K230N|MSR1_uc003wxb.3_Missense_Mutation_p.K230N|MSR1_uc011kxz.2_Missense_Mutation_p.K4N	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	230					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)		CTTGTTCTTCTTTCATAGCCA	0.353000														28			11		0	0	0.000978	0	0
NRM	11270	broad.mit.edu	37	6	30657977	30657977	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:30657977G>A	uc003nrc.3	-	1	484	c.177C>T	c.(175-177)atC>atT	p.I59I	PPP1R18_uc003nra.3_5'Flank|PPP1R18_uc003nrb.4_5'Flank|NRM_uc003nre.3_Intron	NM_007243	NP_009174	Q8IXM6	NRM_HUMAN	Homo sapiens nurim (nuclear envelope membrane protein) (NRM), mRNA.	59						integral to membrane|nuclear inner membrane				large_intestine(1)|lung(2)	3						GGGGGGCAAGGATGCTGCGGT	0.562000														43			27		0	0	0.006320	0	0
GPR107	57720	broad.mit.edu	37	9	132862932	132862932	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:132862932C>T	uc004bze.2	+	10	1191	c.964C>T	c.(964-966)Cag>Tag	p.Q322*	GPR107_uc004bzb.2_Nonsense_Mutation_p.Q133*|GPR107_uc011mbx.1_Nonsense_Mutation_p.Q322*|GPR107_uc004bzd.2_Nonsense_Mutation_p.Q322*	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN	Homo sapiens G protein-coupled receptor 107 (GPR107), transcript variant 1, mRNA.	322						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CATCTCCTCCCAGGGCTTCCC	0.418000														55			19		0	0	0.002780	0	0
OR51F2	119694	broad.mit.edu	37	11	4843255	4843255	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4843255C>T	uc010qyn.2	+	0	640	c.640C>T	c.(640-642)Ctg>Ttg	p.L214L		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATCCTTGGTCTGTTTGCGCT	0.468000														74			35		0	0	0.006230	0	0
SYT13	57586	broad.mit.edu	37	11	45274136	45274136	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:45274136G>A	uc001myq.2	-	3	808	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	SYT13_uc009yku.1_Missense_Mutation_p.P84S	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	228	C2 1.					transport vesicle		p.P228T(2)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						TCCGCCAGGGGGAGCACCAGG	0.682000											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		68			11		0	0	0.001368	0	0
KL	9365	broad.mit.edu	37	13	33629411	33629411	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:33629411C>T	uc001uus.3	+	2	1566	c.1558C>T	c.(1558-1560)Ccc>Tcc	p.P520S	KL_uc001uur.1_Missense_Mutation_p.P213S	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	520	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.P520S(2)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGGGACATTTCCCTGTGACTT	0.438000														31			19		0	0	0.007413	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803517	185803517	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:185803517C>T	uc002uph.3	+	3	3988	c.3394C>T	c.(3394-3396)Ctt>Ttt	p.L1132F		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	1132						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCAACAGTTTCTTTCCCAAAT	0.542000														49			10		0	0	0.000978	0	0
S100A14	57402	broad.mit.edu	37	1	153587382	153587382	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:153587382C>T	uc001fce.3	-	3	410	c.294G>A	c.(292-294)gaG>gaA	p.E98E	S100A16_uc001fcd.1_5'Flank	NM_020672	NP_065723	Q9HCY8	S10AE_HUMAN	Homo sapiens S100 calcium binding protein A14 (S100A14), mRNA.	98					calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway	cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm	calcium ion binding|chemokine receptor binding			kidney(2)|large_intestine(1)|lung(1)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGACAGGCCTCTCCAGCTTCA	0.542000														39			12		0	0	0.001855	0	0
AXDND1	126859	broad.mit.edu	37	1	179497543	179497543	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:179497543G>A	uc001gmo.3	+	22	3079	c.2692G>A	c.(2692-2694)Gaa>Aaa	p.E898K	AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.E782K|AXDND1_uc009wxh.3_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	898	Glu-rich.							p.E898D(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ACCTCTATTTGAAACAGATGT	0.358000														34			8		0	0	0.004482	0	0
C7orf45	136263	broad.mit.edu	37	7	129856265	129856265	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:129856265G>A	uc003vpp.3	+	2	737	c.690G>A	c.(688-690)gaG>gaA	p.E230E		NM_145268	NP_660311	Q8WWF3	CG045_HUMAN	Homo sapiens chromosome 7 open reading frame 45 (C7orf45), mRNA.	230						integral to membrane				endometrium(2)|kidney(1)|lung(6)|ovary(1)	10	Melanoma(18;0.0435)					ACAGTCAAGAGGAAAGTTCCA	0.398000														127			31		0	0	0.003755	0	0
CEP250	11190	broad.mit.edu	37	20	34078584	34078584	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:34078584C>T	uc021wco.1	+	20	3355	c.2708C>T	c.(2707-2709)gCc>gTc	p.A903V	CEP250_uc010zve.2_Missense_Mutation_p.A271V	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	903	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCCATCCAGGCCCAGAGGGAA	0.552000														64			44		0	0	0.003610	0	0
STAB1	23166	broad.mit.edu	37	3	52554946	52554946	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:52554946G>A	uc003dej.3	+	54	5907	c.5833G>A	c.(5833-5835)Ggc>Agc	p.G1945S	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.3_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1945					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCTGGGCAGGGGCTGCCACCG	0.617000														31			22		0	0	0.010504	0	0
ACSM2A	123876	broad.mit.edu	37	16	20477025	20477025	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:20477025G>A	uc010bwe.3	+	3	603	c.364G>A	c.(364-366)Gtg>Atg	p.V122M	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.V43M|ACSM2A_uc002dhf.4_Missense_Mutation_p.V122M|ACSM2A_uc002dhg.4_Missense_Mutation_p.V122M|ACSM2A_uc010vay.2_Missense_Mutation_p.V43M	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	122					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GTGGTGGCTGGTGATCCTGGG	0.582000														25			9		0	0	0.001368	0	0
SV2C	22987	broad.mit.edu	37	5	75596681	75596681	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:75596681G>A	uc003kei.1	+	10	1898	c.1764G>A	c.(1762-1764)ctG>ctA	p.L588L		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	588					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCAACTTTCTGGGGACATTGG	0.408000														42			27		0	0	0.004656	0	0
VPS37A	137492	broad.mit.edu	37	8	17132409	17132409	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:17132409C>T	uc003wxj.3	+	4	937	c.584C>T	c.(583-585)tCa>tTa	p.S195L	VPS37A_uc003wxk.3_Missense_Mutation_p.S170L|VPS37A_uc003wxl.3_5'UTR	NM_152415	NP_689628	Q8NEZ2	VP37A_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog A (S. cerevisiae) (VPS37A), transcript variant 1, mRNA.	195					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		GCCGCTCCTTCATTTGGTGTC	0.438000														75			24		0	0	0.002836	0	0
ROR1	4919	broad.mit.edu	37	1	64643822	64643822	+	Nonsense_Mutation	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:64643822G>T	uc001dbj.2	+	8	2497	c.2098G>T	c.(2098-2100)Gaa>Taa	p.E700*		NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	700	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CAGTAACCAGGAAGTGATTGA	0.458000														69			25		2.79863e-10	3.08235e-10	0.004656	1	0
CAP2	10486	broad.mit.edu	37	6	17426833	17426833	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:17426833C>T	uc003ncb.3	+	2	377	c.134C>T	c.(133-135)tCc>tTc	p.S45F	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.S45F|CAP2_uc011djb.2_Missense_Mutation_p.S45F|CAP2_uc011djc.2_Missense_Mutation_p.S45F|CAP2_uc011djd.2_Missense_Mutation_p.S45F	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	45					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GTGGCACCCTCCGTGGAAGCC	0.522000														54			11		0	0	0.001368	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072847	17072847	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:17072847G>A	uc002zlp.1	-	0	854	c.594C>T	c.(592-594)ttC>ttT	p.F198F		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	198					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity	p.S197G(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCTCAGGCTTGAAGCTGCCGT	0.602000														48			39		0	0	0.006230	0	0
CABYR	26256	broad.mit.edu	37	18	21736152	21736152	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:21736152G>A	uc002kux.3	+	3	839	c.687G>A	c.(685-687)aaG>aaA	p.K229K	CABYR_uc021uig.1_Intron|CABYR_uc010xbb.1_Silent_p.K131K|CABYR_uc002kuy.3_Intron|CABYR_uc002kuz.3_Intron|CABYR_uc002kva.3_Silent_p.K211K|CABYR_uc002kvb.3_Intron|CABYR_uc002kvc.3_Intron|CABYR_uc010dlw.3_Non-coding_Transcript	NM_012189	NP_036321	O75952	CABYR_HUMAN	Homo sapiens calcium binding tyrosine-(Y)-phosphorylation regulated (CABYR), transcript variant 1, mRNA.	229					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	SH3 domain binding|cAMP-dependent protein kinase regulator activity|calcium ion binding|enzyme binding|protein heterodimerization activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					GTTCTGGAAAGGTGCTAGAAG	0.488000														24			15		0	0	0.002450	0	0
ARIH2	10425	broad.mit.edu	37	3	49011154	49011154	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:49011154C>T	uc003cvb.3	+	8	1105	c.793C>T	c.(793-795)Cac>Tac	p.H265Y	ARIH2_uc003cvc.3_Missense_Mutation_p.H265Y|ARIH2_uc003cvf.3_Missense_Mutation_p.H183Y|ARIH2_uc010hkl.3_Missense_Mutation_p.H265Y	NM_006321	NP_006312	O95376	ARI2_HUMAN	Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA.	265					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TCAGATGTATCACGCACCCAC	0.408000														36			11		0	0	0.000978	0	0
LCE1B	353132	broad.mit.edu	37	1	152785023	152785023	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152785023C>T	uc001faq.3	+	0	577	c.101C>T	c.(100-102)cCc>cTc	p.P34L		NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	Homo sapiens late cornified envelope 1B (LCE1B), mRNA.	34	Pro-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAAAGTGTCCCCCTAAGTGT	0.637000														47			24		0	0	0.003330	0	0
KLHL14	57565	broad.mit.edu	37	18	30321904	30321904	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:30321904C>T	uc002kxm.1	-	2	1444	c.1056G>A	c.(1054-1056)tgG>tgA	p.W352*		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	352						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGAGTATTTTCCATGTCTTCT	0.393000														13			7		0	0	0.001984	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605446	140605446	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140605446G>A	uc003ljb.3	+	0	2369	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	790					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.R790*(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAACTTTCGAAATAGCTTT	0.348000														19			7		0	0	0.003080	0	0
TICAM1	148022	broad.mit.edu	37	19	4817408	4817408	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:4817408C>A	uc002mbi.3	-	1	1233	c.982G>T	c.(982-984)Gtc>Ttc	p.V328F	TICAM1_uc021unj.1_Missense_Mutation_p.V328F	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	328	Pro-rich.				I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	p.S327F(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TGGTCTTTGACAGAGCAGGGG	0.572000														68			6		5.18039e-06	5.67242e-06	0.003080	1	0
TSEN34	79042	broad.mit.edu	37	19	54695980	54695980	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:54695980C>T	uc010yeo.2	+	3	590	c.501C>T	c.(499-501)tcC>tcT	p.S167S	MBOAT7_uc002qdq.3_5'Flank|MBOAT7_uc002qdr.3_5'Flank|MBOAT7_uc002qds.3_5'Flank|MBOAT7_uc010yen.2_5'Flank|MBOAT7_uc002qdt.4_5'Flank|TSEN34_uc002qdu.3_Silent_p.S167S|TSEN34_uc002qdv.3_Silent_p.S167S|TSEN34_uc002qdw.3_Silent_p.S167S	NM_024075	NP_076980	Q9BSV6	SEN34_HUMAN	Homo sapiens tRNA splicing endonuclease 34 homolog (S. cerevisiae) (TSEN34), transcript variant 1, mRNA.	167					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTCGTCTTCCCAAGCAGGAC	0.607000														54			12		0	0	0.001855	0	0
NOS1	4842	broad.mit.edu	37	12	117665424	117665424	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:117665424C>T	uc001twn.2	-	23	4241	c.3530G>A	c.(3529-3531)tGg>tAg	p.W1177*	NOS1_uc021ren.1_Nonsense_Mutation_p.W807*|NOS1_uc021reo.1_Nonsense_Mutation_p.W807*|NOS1_uc001twm.2_Nonsense_Mutation_p.W1143*	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1143	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCCCCATTTCCATTCCTCGTA	0.592000														24			29		0	0	0.002096	0	0
ATM	472	broad.mit.edu	37	11	108159737	108159737	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:108159737T>C	uc001pkb.1	+	27	4528	c.4143T>C	c.(4141-4143)ttT>ttC	p.F1381F	ATM_uc009yxr.1_Silent_p.F1381F|ATM_uc001pkd.4_Silent_p.F33F|ATM_uc001pke.2_Silent_p.F33F|ATM_uc001pkf.3_Silent_p.F33F	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1381	Interaction with ABL1.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	p.H1380Y(1)|p.F1381C(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CACCTCATTTTCCATCGCATG	0.343000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				54			18		0	0	0.001882	0	0
CCDC164	92749	broad.mit.edu	37	2	26676293	26676293	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:26676293G>A	uc002rhg.2	+	13	1869	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K		NM_145038	NP_659475	Q96MC2	CC164_HUMAN	Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.	599	Glu-rich.									cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						gggagaaaaggaagaaagcct	0.582000														29			15		0	0	0.002450	0	0
EDDM3A	10876	broad.mit.edu	37	14	21215935	21215935	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:21215935C>T	uc021rom.1	+	0	196	c.196C>T	c.(196-198)Cat>Tat	p.H66Y	EDDM3A_uc001vyc.3_Missense_Mutation_p.H66Y	NM_006683	NP_006674	Q14507	EP3A_HUMAN	Homo sapiens epididymal protein 3A (EDDM3A), mRNA.	66					sperm displacement	extracellular space				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						CAAGAGCTTTCATATGTTCAT	0.403000														25			7		0	0	0.001984	0	0
NSD1	64324	broad.mit.edu	37	5	176638012	176638012	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:176638012C>T	uc003mfr.4	+	4	2750	c.2612C>T	c.(2611-2613)tCc>tTc	p.S871F	NSD1_uc003mft.4_Missense_Mutation_p.S602F|NSD1_uc003mfs.1_Missense_Mutation_p.S768F|NSD1_uc011dfx.2_Missense_Mutation_p.S519F	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	871					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCTTACAGATCCTTAGGTGAG	0.403000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				37			17		0	0	0.004990	0	0
SIRPG	55423	broad.mit.edu	37	20	1630007	1630007	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:1630007G>A	uc002wfm.1	-	1	186	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L	SIRPG_uc002wfn.1_Silent_p.L41L|SIRPG_uc002wfo.1_Silent_p.L41L	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	41	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GTGACCAACAGGAGCTTCTCA	0.512000														40			13		0	0	0.001368	0	0
OR10A5	144124	broad.mit.edu	37	11	6866952	6866952	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:6866952C>T	uc001met.1	+	0	39	c.39C>T	c.(37-39)atC>atT	p.I13I		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTGAATTTATCCTCATGAGCT	0.408000														123			47		0	0	0.003610	0	0
ADAM28	10863	broad.mit.edu	37	8	24168913	24168913	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:24168913G>A	uc003xdy.3	+	4	429	c.346G>A	c.(346-348)Gtt>Att	p.V116I	ADAM28_uc003xdx.3_Missense_Mutation_p.V116I|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	116					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TAATGAAAAGGTTTCTGACGC	0.373000														35			17		0	0	0.010504	0	0
OR4C3	256144	broad.mit.edu	37	11	48346780	48346780	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:48346780C>T	uc010rhv.2	+	0	288	c.288C>T	c.(286-288)acC>acT	p.T96T		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTATTGACACCTTTTATTCTT	0.478000														101			7		0	0	0.001855	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42891969	42891969	+	Splice_Site	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:42891969T>C	uc010zwl.2	+	4	769	c.702_splice	c.e4+2	p.M234_splice	GDAP1L1_uc002xlp.1_Splice_Site_p.M215_splice|GDAP1L1_uc002xlq.3_Splice_Site_p.M215_splice|GDAP1L1_uc010zwm.2_Splice_Site_p.M157_splice|GDAP1L1_uc010zwn.2_Splice_Site_p.M23_splice	NM_024034	NP_076939	Q96MZ0	GD1L1_HUMAN	Homo sapiens ganglioside-induced differentiation-associated protein 1-like 1 (GDAP1L1), mRNA.	215	GST C-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AAGCTCATGGTGAGTACCTCC	0.498000														65			31		0	0	0.008361	0	0
PTGFRN	5738	broad.mit.edu	37	1	117503968	117503968	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:117503968G>A	uc001egv.1	+	4	1454	c.1317G>A	c.(1315-1317)gcG>gcA	p.A439A		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	439	Ig-like C2-type 4.					Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GTGGGGAGGCGAATGTCCGAT	0.602000														51			17		0	0	0.004007	0	0
MYPN	84665	broad.mit.edu	37	10	69902759	69902759	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:69902759A>T	uc001jnm.4	+	3	1150	c.965A>T	c.(964-966)aAt>aTt	p.N322I	MYPN_uc001jnl.1_Missense_Mutation_p.N322I|MYPN_uc001jnn.4_Missense_Mutation_p.N47I|MYPN_uc001jno.4_Missense_Mutation_p.N322I|MYPN_uc001jnp.1_Missense_Mutation_p.N322I|MYPN_uc009xps.3_Missense_Mutation_p.N322I|MYPN_uc009xpt.3_Missense_Mutation_p.N322I|MYPN_uc010qit.2_Missense_Mutation_p.N28I|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	322	Ig-like 1.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CAGGCAGGAAATCTGCACTCA	0.478000														40			9		0	0	0.004482	0	0
TRPV6	55503	broad.mit.edu	37	7	142575515	142575515	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142575515C>T	uc003wbx.2	-	2	467	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	80					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGCGCTGTTTCCCCCATGGCT	0.567000														81			39		0	0	0.008740	0	0
ST18	9705	broad.mit.edu	37	8	53092862	53092862	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:53092862C>T	uc003xqz.2	-	3	253	c.97G>A	c.(97-99)Gat>Aat	p.D33N	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_5'UTR|ST18_uc011lds.1_5'UTR|ST18_uc003xra.2_Missense_Mutation_p.D33N|ST18_uc003xrb.2_Missense_Mutation_p.D33N|ST18_uc010lyb.2_Non-coding_Transcript	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	33						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ATGGAGCAATCATAGGCAACA	0.418000														87			22		0	0	0.003954	0	0
RIMS2	9699	broad.mit.edu	37	8	105257166	105257166	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:105257166G>A	uc003yls.3	+	23	3652	c.3411G>A	c.(3409-3411)agG>agA	p.R1137R	RIMS2_uc003ylp.3_Silent_p.R1119R|RIMS2_uc003ylw.2_Silent_p.R1126R|RIMS2_uc003ylq.3_Silent_p.R933R|RIMS2_uc003ylr.3_Silent_p.R958R	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1181					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAAAACTAAGGAGCACTGTCC	0.448000										HNSCC(12;0.0054)				70			40		0	0	0.006999	0	0
GADL1	339896	broad.mit.edu	37	3	30842408	30842408	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:30842408C>T	uc003cep.2	-	11	1270	c.1223G>A	c.(1222-1224)aGa>aAa	p.R408K	GADL1_uc003ceq.1_Missense_Mutation_p.R408K	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	408					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	ACGATTAACTCTTTCTTCAAG	0.468000														52			17		0	0	0.010504	0	0
ASB15	142685	broad.mit.edu	37	7	123269336	123269336	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:123269336G>A	uc003vku.1	+	9	1580	c.1288G>A	c.(1288-1290)Gta>Ata	p.V430I	ASB15_uc003vkw.1_Missense_Mutation_p.V430I	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	430					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AAACGACGAGGTAATGCTGAG	0.423000														67			46		0	0	0.003610	0	0
ARID2	196528	broad.mit.edu	37	12	46246002	46246002	+	Nonsense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:46246002A>T	uc001ros.1	+	14	4096	c.4096A>T	c.(4096-4098)Aaa>Taa	p.K1366*	ARID2_uc001ror.3_Nonsense_Mutation_p.K1366*|ARID2_uc009zkg.1_Nonsense_Mutation_p.K822*|ARID2_uc009zkh.1_Nonsense_Mutation_p.K993*|ARID2_uc001rou.1_Nonsense_Mutation_p.K700*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1366					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGATTTTGATAAAGGAGATGG	0.358000			"""N, S, F"""		hepatocellular carcinoma									5			11		0	0	0.008291	0	0
MMP7	4316	broad.mit.edu	37	11	102395787	102395787	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:102395787C>T	uc001phb.3	-	3	540	c.493G>A	c.(493-495)Gac>Aac	p.D165N	MMP7_uc009yxd.3_Missense_Mutation_p.D165N	NM_002423	NP_002414	P09237	MMP7_HUMAN	Homo sapiens matrix metallopeptidase 7 (matrilysin, uterine) (MMP7), mRNA.	165					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		GGGTAGGAGTCCCCATGAGCT	0.448000														25			6		0	0	0.001984	0	0
TSPEAR	54084	broad.mit.edu	37	21	45987759	45987759	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:45987759G>A	uc002zfe.1	-	1	279	c.213C>T	c.(211-213)ttC>ttT	p.F71F	TSPEAR_uc010gpv.1_Silent_p.F3F	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	71					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TGGATGCTGGGAAGCTCATGG	0.557000														50			9		0	0	0.006214	0	0
GRIA4	2893	broad.mit.edu	37	11	105795202	105795202	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:105795202G>A	uc001pix.2	+	11	2000	c.1554G>A	c.(1552-1554)atG>atA	p.M518I	GRIA4_uc001piw.2_Missense_Mutation_p.M518I	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	518					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AGCCCTTCATGAGTTTGGGCA	0.418000														58			35		0	0	0.003271	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960521	73960521	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:73960521G>A	uc004eby.3	-	2	4488	c.3871C>T	c.(3871-3873)Cca>Tca	p.P1291S		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1291					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTCCAGCCTGGGCTGCTCTCC	0.507000														12			35		0	0	0.003755	0	0
GDF2	2658	broad.mit.edu	37	10	48414222	48414222	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:48414222G>A	uc001jfa.1	-	1	806	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	216					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.R216Q(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GAGTCGGACCGGACCCAGCGC	0.587000														38			13		0	0	0.004990	0	0
ELTD1	64123	broad.mit.edu	37	1	79358832	79358832	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:79358832G>A	uc001diq.4	-	12	1948	c.1792C>T	c.(1792-1794)Cgt>Tgt	p.R598C		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	598					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.R598C(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GCAGTGTGACGAAAAACTTTG	0.299000														24			18		0	0	0.001882	0	0
SYT5	6861	broad.mit.edu	37	19	55687180	55687180	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55687180G>A	uc002qjm.1	-	3	1497	c.437C>T	c.(436-438)cCc>cTc	p.P146L	SYT5_uc002qjp.2_Missense_Mutation_p.P143L|SYT5_uc002qjn.1_Missense_Mutation_p.P146L|SYT5_uc002qjo.1_Missense_Mutation_p.P146L	NM_003180	NP_003171	O00445	SYT5_HUMAN	Homo sapiens synaptotagmin V (SYT5), mRNA.	146	C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCGCACATAGGGGTCCGAGGA	0.627000														51			21		0	0	0.010504	0	0
S1PR1	1901	broad.mit.edu	37	1	101705422	101705422	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:101705422G>A	uc021oqt.1	+	0	882	c.882G>A	c.(880-882)gaG>gaA	p.E294E	S1PR1_uc001dud.2_Silent_p.E294E|S1PR1_uc009weg.2_Silent_p.E294E	NM_001400	NP_001391	P21453	S1PR1_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.	294					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.A293A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TCAGAGCGGAGTACTTCCTGG	0.562000														158			68		0	0	0.003610	0	0
SLC26A7	115111	broad.mit.edu	37	8	92364064	92364064	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:92364064C>T	uc003yez.3	+	9	1406	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	SLC26A7_uc003yex.3_Silent_p.F389F|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Silent_p.F389F	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	389						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CTTGCATTTTCGTCCTTATAG	0.353000														74			29		0	0	0.003271	0	0
FAM220A	84792	broad.mit.edu	37	7	6370581	6370581	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:6370581G>A	uc003spu.3	-	1	673	c.205C>T	c.(205-207)Ccg>Tcg	p.P69S	FAM220A_uc021zzf.1_Missense_Mutation_p.P69S	NM_001037163	NP_001032240	Q7Z4H9	SIPAR_HUMAN	Homo sapiens chromosome 7 open reading frame 70 (C7orf70), mRNA.	69						nucleus											GCCCCGCTCGGATCCTTTCTC	0.542000														33			26		0	0	0.004656	0	0
BMS1	9790	broad.mit.edu	37	10	43315783	43315784	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:43315783_43315784CC>TT	uc001jaj.3	+	15	3038_3039	c.2680_2681CC>TT	c.(2680-2682)ccc>TTc	p.P894F		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	894					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGAAAATGTTCCCTGTGAATTT	0.485000														62			5		0	0	0.004672	0	0
RFX1	5989	broad.mit.edu	37	19	14079479	14079479	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:14079479G>A	uc002mxv.3	-	11	1902	c.1630C>T	c.(1630-1632)Cag>Tag	p.Q544*		NM_002918	NP_002909	P22670	RFX1_HUMAN	Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA.	544					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			TCCATCTTCTGGATGGGCTTG	0.682000														27			17		0	0	0.001882	0	0
MRGPRD	116512	broad.mit.edu	37	11	68747545	68747545	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:68747545G>A	uc010rqf.2	-	0	911	c.911C>T	c.(910-912)cCc>cTc	p.P304L		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	Homo sapiens MAS-related GPR, member D (MRGPRD), mRNA.	304						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTCCAGCTCGGGCTCCTCGCG	0.682000														49			26		0	0	0.004656	0	0
TTLL7	79739	broad.mit.edu	37	1	84376910	84376910	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:84376910C>T	uc001djc.3	-	14	2120	c.1724G>A	c.(1723-1725)aGa>aAa	p.R575K	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Non-coding_Transcript|TTLL7_uc001djf.3_Non-coding_Transcript|TTLL7_uc001djg.3_Non-coding_Transcript|HH834010_uc021ooz.1_5'Flank	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	575				R -> G (in Ref. 4; AAH60878).	cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTGCTTTTCTCTTTTCTTATT	0.328000														38			14		0	0	0.003163	0	0
CFHR5	81494	broad.mit.edu	37	1	196971768	196971768	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196971768G>A	uc001gts.4	+	7	1432	c.1304G>A	c.(1303-1305)cGa>cAa	p.R435Q		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	435	Sushi 7.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AAAGATGGACGATGGCAATCA	0.333000														20			6		0	0	0.001168	0	0
MSR1	4481	broad.mit.edu	37	8	16026228	16026228	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:16026228C>T	uc010lsu.3	-	3	487	c.423G>A	c.(421-423)aaG>aaA	p.K141K	MSR1_uc003wwz.3_Silent_p.K123K|MSR1_uc003wxa.3_Silent_p.K123K|MSR1_uc003wxb.3_Silent_p.K123K|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	123					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)		GCTGGATTCTCTTCTCCATGT	0.378000														87			34		0	0	0.005524	0	0
KCNT2	343450	broad.mit.edu	37	1	196434428	196434428	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196434428G>A	uc001gtd.1	-	7	693	c.633C>T	c.(631-633)ttC>ttT	p.F211F	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Silent_p.F211F|KCNT2_uc001gtf.1_Silent_p.F211F|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Silent_p.F211F|KCNT2_uc009wyv.1_Silent_p.F186F	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	211						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTTACCAGGTGAAGATAAGGC	0.269000														54			26		0	0	0.007291	0	0
CDC73	79577	broad.mit.edu	37	1	193205437	193205437	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:193205437T>C	uc001gtb.3	+	14	1611	c.1368T>C	c.(1366-1368)ggT>ggC	p.G456G		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	Homo sapiens cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CDC73), mRNA.	456					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AGTTCAAAGGTTGGCCATGGC	0.448000														99			54		0	0	0.003610	0	0
CFI	3426	broad.mit.edu	37	4	110667403	110667403	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:110667403G>A	uc011cft.2	-	11	1636	c.1428C>T	c.(1426-1428)atC>atT	p.I476I	CFI_uc003hzq.3_Silent_p.I265I|CFI_uc003hzr.4_Silent_p.I468I	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	468	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AGCCAGAAACGATGCATGTAT	0.408000														27			7		0	0	0.001984	0	0
CD34	947	broad.mit.edu	37	1	208073331	208073331	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:208073331G>A	uc001hgw.1	-	1	355	c.97C>T	c.(97-99)Ctt>Ttt	p.L33F	CD34_uc001hgx.1_Missense_Mutation_p.L33F|CD34_uc010psj.1_5'UTR	NM_001025109	NP_001020280	P28906	CD34_HUMAN	Homo sapiens CD34 molecule (CD34), transcript variant 1, mRNA.	33					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						TTGTTGTCAAGACTCATGAAC	0.428000														27			14		0	0	0.004007	0	0
VPS13D	55187	broad.mit.edu	37	1	12389938	12389938	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:12389938C>T	uc001atv.3	+	36	8391	c.8250C>T	c.(8248-8250)ttC>ttT	p.F2750F	VPS13D_uc001atw.3_Silent_p.F2750F|VPS13D_uc001atx.3_Silent_p.F1938F|VPS13D_uc001aty.1_Silent_p.F488F	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2750					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATGCCCACTTCACCCTTTCTG	0.418000														31			11		0	0	0.001368	0	0
CTSL2	1515	broad.mit.edu	37	9	99799623	99799623	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:99799623C>T	uc010msi.3	-	3	514	c.307G>A	c.(307-309)Ggg>Agg	p.G103R	CTSL2_uc004awt.3_Missense_Mutation_p.G103R|CTSL2_uc004awu.3_Missense_Mutation_p.G48R|CTSL2_uc010msj.2_Missense_Mutation_p.G48R|CTSL2_uc010msk.3_Missense_Mutation_p.G48R	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	103						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				AACACTTTCCCCTTCCTGAAT	0.423000														26			15		0	0	0.004007	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140750859	140750859	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140750859G>A	uc003ljw.2	+	0	898	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.E300K|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	301	Cadherin 3.				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)			TAAAACGGGGGAACTCACCAC	0.443000														90			28		0	0	0.008361	0	0
KCNK10	54207	broad.mit.edu	37	14	88729611	88729611	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:88729611C>T	uc001xwm.3	-	1	459	c.337G>A	c.(337-339)Gag>Aag	p.E113K	KCNK10_uc001xwn.3_Missense_Mutation_p.E113K|KCNK10_uc001xwo.3_Missense_Mutation_p.E108K	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	108					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCCGCCTTCTCCAAGGCGATG	0.567000														17			9		0	0	0.003163	0	0
MYO18B	84700	broad.mit.edu	37	22	26164826	26164826	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:26164826G>A	uc003abz.1	+	3	1193	c.943G>A	c.(943-945)Ggg>Agg	p.G315R	MYO18B_uc003aca.1_Missense_Mutation_p.G196R|MYO18B_uc010guy.1_Missense_Mutation_p.G196R|MYO18B_uc010guz.1_Missense_Mutation_p.G196R|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	315						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.G315V(1)		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						CCAAATCCCTGGGAGAAAGTG	0.532000														13			5		0	0	0.001168	0	0
PLCH1	23007	broad.mit.edu	37	3	155282900	155282900	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:155282900C>T	uc021xge.1	-	6	1114	c.837G>A	c.(835-837)acG>acA	p.T279T	PLCH1_uc021xgd.1_Silent_p.T279T|PLCH1_uc021xgf.1_Silent_p.T261T	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	279					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.V279L(1)|p.T261T(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCATGAAGTTCGTGAAGCCTT	0.423000														23			9		0	0	0.004482	0	0
RHOT2	89941	broad.mit.edu	37	16	720927	720927	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:720927C>T	uc002cip.3	+	9	792	c.675C>T	c.(673-675)gcC>gcT	p.A225A	RHOT2_uc002ciq.3_Silent_p.A118A|RHOT2_uc010bqy.3_5'UTR	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	Homo sapiens ras homolog gene family, member T2 (RHOT2), nuclear gene encoding mitochondrial protein, mRNA.	225					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCCCGCAGGCCCTGGAGGACG	0.677000														13			11		0	0	0.000978	0	0
LCN9	392399	broad.mit.edu	37	9	138556077	138556077	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:138556077C>T	uc004cgk.1	+	1	166	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L		NM_001001676	NP_001001676	Q8WX39	LCN9_HUMAN	Homo sapiens lipocalin 9 (LCN9), mRNA.	56						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		AAATGGAGACCTGAGGGTCTT	0.473000														43			22		0	0	0.002780	0	0
SNX27	81609	broad.mit.edu	37	1	151638458	151638458	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:151638458C>T	uc001eyn.1	+	5	972	c.956C>T	c.(955-957)gCc>gTc	p.A319V	SNX27_uc001eyo.3_Missense_Mutation_p.A226V|SNX27_uc001eyp.3_Missense_Mutation_p.A133V	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	Homo sapiens sorting nexin family member 27 (SNX27), mRNA.	319	Ras-associating.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AATTACTTTGCCTTATTTGAA	0.373000														31			18		0	0	0.002299	0	0
OR10H3	26532	broad.mit.edu	37	19	15852975	15852975	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15852975C>T	uc010xoq.2	+	0	773	c.773C>T	c.(772-774)tCc>tTc	p.S258F		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						AGTTTTGCCTCCCTTATCTAC	0.512000														61			36		0	0	0.002836	0	0
GPR50	9248	broad.mit.edu	37	X	150349680	150349680	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:150349680C>T	uc010ntg.2	+	1	1763	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	542	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTCTGCCTCCCATTGCCCC	0.637000														13			36		0	0	0.004289	0	0
CXCR2	3579	broad.mit.edu	37	2	219000175	219000175	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:219000175C>T	uc002vgz.2	+	3	861	c.651C>T	c.(649-651)tcC>tcT	p.S217S	CXCR2_uc002vha.2_Silent_p.S217S|CXCR2_uc002vhb.2_Silent_p.S217S|CXCR2_uc021vwp.1_Silent_p.S217S	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	217					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TGCCCCAGTCCTTTGGCTTCA	0.557000														91			35		0	0	0.004878	0	0
TEX15	56154	broad.mit.edu	37	8	30695200	30695200	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:30695200G>A	uc003xil.3	-	2	7451	c.7451C>T	c.(7450-7452)tCc>tTc	p.S2484F		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2484										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GGGATCTGGGGAATTTTTAAG	0.413000														48			23		0	0	0.003330	0	0
TIAM2	26230	broad.mit.edu	37	6	155451112	155451113	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:155451112_155451113CC>TT	uc003qqb.3	+	5	2028_2029	c.755_756CC>TT	c.(754-756)tcc>tTT	p.S252F	TIAM2_uc003qqe.3_Missense_Mutation_p.S252F	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	252					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGGTACGACTCCCCTTGGGGCA	0.658000														71			27		0	0	0.004672	0	0
CETP	1071	broad.mit.edu	37	16	57005954	57005954	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:57005954G>A	uc002eki.2	+	7	766	c.709G>A	c.(709-711)Gat>Aat	p.D237N	CETP_uc002ekj.2_Missense_Mutation_p.D237N	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	237					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CCTGACAGGTGATCCCGTCAT	0.577000														56			13		0	0	0.004007	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738765	176738765	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:176738765C>T	uc001gkz.3	+	15	5510	c.4346C>T	c.(4345-4347)tCt>tTt	p.S1449F	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1449	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.C1448S(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTCACATGTTCTTCTGGGCAC	0.478000														42			30		0	0	0.002445	0	0
TAS1R2	80834	broad.mit.edu	37	1	19180731	19180731	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:19180731G>A	uc001bba.1	-	2	1234	c.1233C>T	c.(1231-1233)acC>acT	p.T411T		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	411					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCACCCTCTTGGTGCAGGTGC	0.627000														29			10		0	0	0.001368	0	0
KCNQ4	9132	broad.mit.edu	37	1	41283836	41283836	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:41283836G>A	uc001cgh.2	+	3	488	c.406_splice	c.e3-1	p.E136_splice	KCNQ4_uc001cgi.2_Splice_Site_p.E136_splice	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	136					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			GGTCCCACAGGAATTCGTGAT	0.632000														77			17		0	0	0.004990	0	0
BST1	683	broad.mit.edu	37	4	15717380	15717380	+	Missense_Mutation	SNP	G	A	A	rs113632818		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:15717380G>A	uc003goh.4	+	5	857	c.662G>A	c.(661-663)cGa>cAa	p.R221Q		NM_004334	NP_004325	Q10588	BST1_HUMAN	Homo sapiens bone marrow stromal cell antigen 1 (BST1), mRNA.	221					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	NAD+ nucleosidase activity|binding			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						AAAATTACACGAATCGAGATC	0.328000														15			8		0	0	0.000978	0	0
DNAH8	1769	broad.mit.edu	37	6	38890955	38890955	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:38890955T>A	uc021yzh.1	+	71	10893	c.10784T>A	c.(10783-10785)aTt>aAt	p.I3595N	DNAH8_uc003ooe.2_Missense_Mutation_p.I3378N|LOC100131047_uc003oof.2_Non-coding_Transcript	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.R3594S(1)		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						AAAGCTCAGATTAATAGGTGG	0.438000														21			7		0	0	0.004482	0	0
IFIH1	64135	broad.mit.edu	37	2	163134828	163134828	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:163134828T>A	uc002uce.3	-	8	1874	c.1652A>T	c.(1651-1653)aAa>aTa	p.K551I		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	551					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						AAGTTTCTCTTTAAATGGATC	0.279000														24			17		0	0	0.008871	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209955417	209955417	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:209955417G>A	uc001hho.3	+	16	2000	c.1580G>A	c.(1579-1581)tGg>tAg	p.W527*	TRAF3IP3_uc001hhn.3_Nonsense_Mutation_p.W507*|TRAF3IP3_uc009xcr.3_Nonsense_Mutation_p.W527*	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	527						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TGTGGGCGATGGCTCCCAGTG	0.483000														64			30		0	0	0.002096	0	0
OR51F1	256892	broad.mit.edu	37	11	4790428	4790428	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4790428G>A	uc010qyl.2	-	0	720	c.720C>T	c.(718-720)ttC>ttT	p.F240F		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	240						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CACAGGTGCTGAAGACCTTGT	0.488000														36			21		0	0	0.001882	0	0
STON2	85439	broad.mit.edu	37	14	81743923	81743923	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:81743923C>T	uc010tvu.2	-	3	1930	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	STON2_uc001xvk.1_Missense_Mutation_p.E578K|STON2_uc010tvt.2_Missense_Mutation_p.E375K	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	578	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CCAGAGAATTCATCTCTGACA	0.498000														43			7		0	0	0.001984	0	0
TRPM1	4308	broad.mit.edu	37	15	31342674	31342674	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:31342674C>T	uc021sia.1	-	10	1740	c.1426G>A	c.(1426-1428)Ggg>Agg	p.G476R	TRPM1_uc010azy.3_Missense_Mutation_p.G344R|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.G459R|TRPM1_uc001zfm.3_Missense_Mutation_p.G437R	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	437					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ttcactttccctttcttcttg	0.547000														16			10		0	0	0.006214	0	0
DNAH9	1770	broad.mit.edu	37	17	11666923	11666923	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:11666923C>T	uc002gne.3	+	35	7230	c.7162C>T	c.(7162-7164)Caa>Taa	p.Q2388*	DNAH9_uc010coo.3_Nonsense_Mutation_p.Q1682*	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2388					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)		AGCAATGGTCCAAGATCAGGT	0.463000														14			10		0	0	0.006214	0	0
KCNH8	131096	broad.mit.edu	37	3	19575008	19575008	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:19575008C>T	uc003cbk.1	+	15	2936	c.2741C>T	c.(2740-2742)tCt>tTt	p.S914F	KCNH8_uc010hex.1_Missense_Mutation_p.S375F	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	914						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CACAGCACCTCTGTGTGTCCC	0.522000														56			26		0	0	0.004656	0	0
ITGA4	3676	broad.mit.edu	37	2	182399556	182399556	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:182399556G>A	uc002unu.3	+	26	3660	c.2897G>A	c.(2896-2898)gGa>gAa	p.G966E	ITGA4_uc002unv.3_Missense_Mutation_p.G211E	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	966					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CTACTGGAAGGACTACATCAT	0.323000														40			13		0	0	0.004007	0	0
ZNF484	83744	broad.mit.edu	37	9	95609097	95609097	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:95609097G>A	uc004asu.1	-	4	2121	c.1972C>T	c.(1972-1974)Cac>Tac	p.H658Y	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.H660Y|ZNF484_uc004asv.1_Missense_Mutation_p.H622Y|ZNF484_uc010mrb.1_Missense_Mutation_p.H622Y	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	658					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TCTCCAGTGTGAATTTTCTGG	0.428000														52			13		0	0	0.001855	0	0
GRHL2	79977	broad.mit.edu	37	8	102582566	102582566	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:102582566G>A	uc010mbu.3	+	5	1009	c.679_splice	c.e5-1	p.K227_splice	GRHL2_uc011lhi.1_Splice_Site_p.K227_splice	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	227						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ATATTTTGCAGAAATTTCGGA	0.333000														88			22		0	0	0.004656	0	0
OR51F1	256892	broad.mit.edu	37	11	4790871	4790871	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4790871C>T	uc010qyl.2	-	0	277	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	93						integral to membrane	olfactory receptor activity	p.E93K(2)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGACTGATTTCACGTGCCTCA	0.423000														22			12		0	0	0.001855	0	0
SCARA3	51435	broad.mit.edu	37	8	27516524	27516524	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:27516524C>T	uc003xga.1	+	4	978	c.837C>T	c.(835-837)atC>atT	p.I279I	SCARA3_uc003xgb.1_Silent_p.I279I	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA.	279					UV protection|response to oxidative stress	Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		TCAAGAACATCCAGGCCACCC	0.602000														23			12		0	0	0.000978	0	0
SLC22A10	387775	broad.mit.edu	37	11	63078499	63078499	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:63078499A>T	uc009yor.3	+	9	1827	c.1619A>T	c.(1618-1620)aAg>aTg	p.K540M	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	540						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCAAGGAAAAGGCATAAAAA	0.284000														56			13		0	0	0.002450	0	0
DYSF	8291	broad.mit.edu	37	2	71741043	71741043	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:71741043G>A	uc010fen.3	+	6	892	c.751G>A	c.(751-753)Gat>Aat	p.D251N	DYSF_uc010fei.3_Missense_Mutation_p.D250N|DYSF_uc010feh.3_Missense_Mutation_p.D219N|DYSF_uc002sig.4_Missense_Mutation_p.D219N|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.D250N|DYSF_uc010fee.3_Missense_Mutation_p.D219N|DYSF_uc010fef.3_Missense_Mutation_p.D250N|DYSF_uc002sie.3_Missense_Mutation_p.D219N|DYSF_uc010feo.3_Missense_Mutation_p.D251N|DYSF_uc010fej.3_Missense_Mutation_p.D220N|DYSF_uc010fel.3_Missense_Mutation_p.D220N|DYSF_uc010fem.3_Missense_Mutation_p.D220N|DYSF_uc002sif.3_Missense_Mutation_p.D220N|DYSF_uc010fek.3_Missense_Mutation_p.D251N	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	219	C2 2.					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						CAAACCGCAGGATTTCCAGGT	0.572000														16			7		0	0	0.004482	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751278	26751278	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:26751278C>T	uc003cdp.3	+	1	704	c.115C>T	c.(115-117)Ctt>Ttt	p.L39F	LRRC3B_uc003cdq.3_Missense_Mutation_p.L39F|LRRC3B_uc021wuj.1_Missense_Mutation_p.L39F	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	39	LRRNT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CAAGGGCTGTCTTTGTTCTTC	0.443000														78			19		0	0	0.007413	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37490169	37490169	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:37490169C>T	uc021ppc.1	+	30	2716	c.2617C>T	c.(2617-2619)Cgt>Tgt	p.R873C	ANKRD30A_uc001iza.1_Missense_Mutation_p.R873C	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	929						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						ACAGAGTCTCCGTGAGACTGT	0.274000														43			7		0	0	0.000978	0	0
SVEP1	79987	broad.mit.edu	37	9	113192662	113192662	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:113192662C>T	uc010mtz.3	-	32	5759	c.5422G>A	c.(5422-5424)Ggt>Agt	p.G1808S	SVEP1_uc010mty.3_5'Flank	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1808	Sushi 7.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACTTCGGCACCTACTGTATAA	0.408000														17			7		0	0	0.001984	0	0
COL7A1	1294	broad.mit.edu	37	3	48625814	48625814	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:48625814C>T	uc003ctz.2	-	19	2612	c.2611G>A	c.(2611-2613)Ggg>Agg	p.G871R		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	871	Fibronectin type-III 8.|Nonhelical region (NC1).				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)		TGAAGCGTCCCCAGGGCTGGC	0.692000														11			7		0	0	0.003080	0	0
OR52J3	119679	broad.mit.edu	37	11	5068044	5068044	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5068044G>A	uc010qyv.2	+	0	289	c.289G>A	c.(289-291)Gga>Aga	p.G97R		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	97					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)		GATTAACTATGGAGCTTGTGT	0.502000														44			16		0	0	0.006122	0	0
HOMER2	9455	broad.mit.edu	37	15	83561495	83561495	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:83561495G>A	uc002bjg.3	-	1	293	c.104C>T	c.(103-105)tCc>tTc	p.S35F	HOMER2_uc002bjh.3_Missense_Mutation_p.S35F	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	Homo sapiens homer homolog 2 (Drosophila) (HOMER2), transcript variant 2, mRNA.	35	WH1.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						ATAGAAGTAGGAAACGGTGAC	0.517000														78			21		0	0	0.002780	0	0
CDH8	1006	broad.mit.edu	37	16	61851631	61851631	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:61851631C>T	uc002eog.2	-	6	1984	c.1029G>A	c.(1027-1029)ctG>ctA	p.L343L	CDH8_uc002eoh.3_Silent_p.L112L	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	343	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCTCAAAGTCCAGAGGCTGTT	0.433000														24			11		0	0	0.002450	0	0
SMO	6608	broad.mit.edu	37	7	128852256	128852256	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:128852256G>A	uc003vor.3	+	11	2608	c.2328G>A	c.(2326-2328)atG>atA	p.M776I	SMO_uc003vos.3_3'UTR	NM_005631	NP_005622	Q99835	SMO_HUMAN	Homo sapiens smoothened, frizzled family receptor (SMO), mRNA.	776					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCAACCTGATGGACACAGAAC	0.602000			Mis		skin basal cell									77			5		0	0	0.001168	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44268761	44268761	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:44268761C>G	uc010xcy.1	-	4	1109	c.541G>C	c.(541-543)Gag>Cag	p.E181Q	ST8SIA5_uc002lci.1_5'UTR|ST8SIA5_uc002lcj.1_Missense_Mutation_p.E145Q|ST8SIA5_uc010xcz.1_Missense_Mutation_p.E114Q	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	145					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CGGAAGATCTCCTGGTTGATG	0.597000														51			29		0	0	0.002445	0	0
GRXCR2	643226	broad.mit.edu	37	5	145252280	145252280	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:145252280C>T	uc003lns.1	-	0	252	c.252G>A	c.(250-252)agG>agA	p.R84R		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	84										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						ACACACTGATCCTCTGAGCAG	0.512000														39			8		0	0	0.003080	0	0
FAM78B	149297	broad.mit.edu	37	1	166039757	166039757	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:166039757G>A	uc021pef.1	-	1	980	c.507C>T	c.(505-507)ttC>ttT	p.F169F	FAM78B_uc010plc.2_Non-coding_Transcript|FAM78B_uc021pee.1_Intron|FAM78B_uc001gdq.3_5'Flank	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	Homo sapiens family with sequence similarity 78, member B (FAM78B), mRNA.	169										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					GCCAGGTCGTGAAACTTTGGT	0.507000														86			47		0	0	0.003610	0	0
MTMR11	10903	broad.mit.edu	37	1	149901597	149901598	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:149901597_149901598GG>AA	uc001etl.4	-	15	2109_2110	c.1858_1859CC>TT	c.(1858-1860)cca>TTa	p.P620L	SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Missense_Mutation_p.P548L	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	620	Myotubularin phosphatase.						phosphatase activity	p.P620L(1)|p.P548L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CAGCAGCCCTGGAGGTAAAGGG	0.584000														76			26		0	0	0.004672	0	0
RPAP1	26015	broad.mit.edu	37	15	41817242	41817242	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:41817242G>A	uc001zod.3	-	14	2146	c.2022C>T	c.(2020-2022)gcC>gcT	p.A674A		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	674						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGACGGAGGGCCTCGGTGC	0.627000														40			4		0	0	0.009096	0	0
C12orf56	115749	broad.mit.edu	37	12	64746706	64746706	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:64746706G>A	uc021qzu.1	-	1	383	c.383C>T	c.(382-384)cCa>cTa	p.P128L	BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Missense_Mutation_p.P128L	NM_001170633	NP_001164104	Q8IXR9	CL056_HUMAN	Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA.	128								p.F127F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		ATGATGAAATGGAAATAGGAA	0.313000														6			19		0	0	0.007413	0	0
NLRC5	84166	broad.mit.edu	37	16	57060342	57060342	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:57060342C>T	uc021tiu.1	+	4	1614	c.1487C>T	c.(1486-1488)tCc>tTc	p.S496F	NLRC5_uc021tit.1_Missense_Mutation_p.S496F|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.S301F|NLRC5_uc021tiw.1_Missense_Mutation_p.S301F|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	496	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTGCTGACTTCCTTCTGCGTC	0.577000														36			16		0	0	0.004007	0	0
SHROOM1	134549	broad.mit.edu	37	5	132161789	132161789	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:132161789G>A	uc003kxx.3	-	3	849	c.44C>T	c.(43-45)tCg>tTg	p.S15L	SHROOM1_uc003kxy.2_Missense_Mutation_p.S15L	NM_001172700	NP_001166171	Q2M3G4	SHRM1_HUMAN	Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA.	15					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTAGTGGACGAGGCCGGGGA	0.701000														14			4		0	0	0.000602	0	0
CST11	140880	broad.mit.edu	37	20	23432486	23432486	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:23432486C>T	uc002wtf.1	-	1	334	c.300G>A	c.(298-300)acG>acA	p.T100T	CST11_uc002wtg.1_Intron	NM_130794	NP_570612	Q9H112	CST11_HUMAN	Homo sapiens cystatin 11 (CST11), transcript variant 1, mRNA.	100					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity	p.T100T(2)		kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGACACAGTTCGTGGTCTCTG	0.522000														50			14		0	0	0.003163	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724669	7724669	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:7724669G>A	uc001aoi.3	+	8	2269	c.2062G>A	c.(2062-2064)Ggg>Agg	p.G688R		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	688					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GACGGCAGAAGGGGAGGTCAC	0.637000			T	WWTR1	epitheliod hemangioendothelioma									45			25		0	0	0.003954	0	0
ALOX12B	242	broad.mit.edu	37	17	7980338	7980338	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:7980338C>T	uc002gjy.1	-	8	1506	c.1245G>A	c.(1243-1245)agG>agA	p.R415R	BC046191_uc010cnq.2_5'Flank	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	415	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						TGGGCAGGTTCCTCAGCAAGG	0.632000										Multiple Myeloma(8;0.094)				8			7		0	0	0.003080	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457720	45457720	+	RNA	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:45457720G>A	uc001rol.3	-	0		c.1475C>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		GAATCATGAGGAAAACCAATG	0.468000														26			24		0	0	0.004656	0	0
CUL9	23113	broad.mit.edu	37	6	43173766	43173766	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:43173766C>T	uc003ouk.3	+	24	4890	c.4815C>T	c.(4813-4815)ctC>ctT	p.L1605L	CUL9_uc003oul.3_Silent_p.L1605L|CUL9_uc010jyk.3_Silent_p.L757L	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1605					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CGGACCGTCTCCTGAGCTTTG	0.627000														43			18		0	0	0.003954	0	0
THRB	7068	broad.mit.edu	37	3	24169111	24169111	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:24169111C>T	uc003ccz.4	-	10	1543	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L	THRB_uc010hfe.3_Silent_p.L341L|THRB_uc003ccy.4_Silent_p.L341L|THRB_uc003ccx.4_Silent_p.L341L	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	341	Interaction with NR2F6.|Ligand-binding.		L -> P (in GTHR).		regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	CCCCATTTTTCAGCTGGCCCC	0.537000														83			20		0	0	0.010504	0	0
PHACTR2	9749	broad.mit.edu	37	6	144093564	144093564	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:144093564G>A	uc010khi.3	+	6	1601	c.1402G>A	c.(1402-1404)Gaa>Aaa	p.E468K	PHACTR2_uc003qjq.4_Missense_Mutation_p.E457K|PHACTR2_uc010khh.3_Missense_Mutation_p.E377K|PHACTR2_uc003qjr.4_Missense_Mutation_p.E388K	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	457							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGATGAGGACGAAGACGAAGA	0.483000														17			8		0	0	0.006214	0	0
GPR39	2863	broad.mit.edu	37	2	133174768	133174768	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:133174768C>T	uc002ttl.3	+	0	622	c.153C>T	c.(151-153)acC>acT	p.T51T		NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	51						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACAGCGCCACCATTCGGGTCA	0.532000														42			17		0	0	0.004990	0	0
HEYL	26508	broad.mit.edu	37	1	40097243	40097243	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:40097243C>T	uc001cdp.3	-	2	207	c.156G>A	c.(154-156)gaG>gaA	p.E52E	HEYL_uc010oiw.2_Silent_p.E24E	NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif-like (HEYL), mRNA.	52	Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).				Notch signaling pathway|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GACGCCGTTTCTCTATGATCT	0.448000														29			18		0	0	0.010504	0	0
ATP13A5	344905	broad.mit.edu	37	3	193002816	193002816	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:193002816G>A	uc011bsq.2	-	26	3113	c.3113C>T	c.(3112-3114)tCa>tTa	p.S1038L		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	1038					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACTTAAAATTGAACCAGGAAT	0.393000														27			9		0	0	0.006214	0	0
TRIM21	6737	broad.mit.edu	37	11	4410916	4410916	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4410916C>T	uc001lyy.1	-	2	585	c.472G>A	c.(472-474)Gtg>Atg	p.V158M		NM_003141	NP_003132	P19474	RO52_HUMAN	Homo sapiens tripartite motif containing 21 (TRIM21), mRNA.	158					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|RNA binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		GCAATTTCCACTTCCAACTTC	0.498000														99			28		0	0	0.008361	0	0
EMR3	84658	broad.mit.edu	37	19	14740983	14740983	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:14740983G>A	uc002mzi.4	-	13	1828	c.1680C>T	c.(1678-1680)atC>atT	p.I560I	EMR3_uc010dzp.3_Silent_p.I508I|EMR3_uc010xnv.2_Silent_p.I434I	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	560					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TGCAGCCCAGGATGAAGAGCT	0.512000														39			21		0	0	0.010504	0	0
DEM1	64789	broad.mit.edu	37	1	40980261	40980261	+	Silent	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:40980261A>G	uc001cfp.3	+	2	250	c.45A>G	c.(43-45)tcA>tcG	p.S15S	DEM1_uc001cfq.3_Silent_p.S15S|DEM1_uc001cfr.3_Silent_p.S15S|DEM1_uc021omb.1_Silent_p.S15S	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	Homo sapiens defects in morphology 1 homolog (S. cerevisiae) (DEM1), mRNA.	15							DNA binding|exonuclease activity	p.S15A(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|urinary_tract(2)	10						CAGAAGCCTCAGGGTTCTCAG	0.488000														79			30		0	0	0.002836	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562600	145562600	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:145562600C>T	uc001eob.1	+	9	2396	c.2288C>T	c.(2287-2289)cCg>cTg	p.P763L	ANKRD35_uc010oyx.1_Missense_Mutation_p.P606L	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	763										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCTTGTCCCCGTGTAGGGAG	0.657000														9			3		0	0	0.004672	0	0
SLC1A6	6511	broad.mit.edu	37	19	15083549	15083549	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15083549G>A	uc002naa.1	-	0	181	c.174C>T	c.(172-174)ttC>ttT	p.F58F	SLC1A6_uc010dzu.1_Silent_p.F58F|SLC1A6_uc010xod.1_Missense_Mutation_p.H63Y|SLC1A6_uc002nab.3_Silent_p.F58F|SLC1A6_uc002nac.3_Silent_p.F58F|SLC1A6_uc002nad.1_Silent_p.F58F	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	58					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TCAGCAGAATGAAGGCGTTTC	0.642000														27			9		0	0	0.008291	0	0
HERC1	8925	broad.mit.edu	37	15	64047438	64047438	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:64047438A>T	uc002amp.3	-	5	1768	c.1620T>A	c.(1618-1620)ttT>ttA	p.F540L	HERC1_uc010uil.1_Intron|HERC1_uc010bgt.1_Missense_Mutation_p.F540L	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	540					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTAATCTTCCAAAGTCTCCTT	0.388000														16			9		0	0	0.004482	0	0
MAP1B	4131	broad.mit.edu	37	5	71494054	71494054	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:71494054C>T	uc003kbw.4	+	4	5113	c.4872C>T	c.(4870-4872)ttC>ttT	p.F1624F	MAP1B_uc010iyw.1_Silent_p.F1641F|MAP1B_uc010iyx.1_Silent_p.F1498F|MAP1B_uc010iyy.1_Silent_p.F1498F	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1624						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CACCAGATTTCTCCCCTAAAA	0.448000														45			14		0	0	0.002450	0	0
STAC	6769	broad.mit.edu	37	3	36545914	36545914	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:36545914G>A	uc003cgh.1	+	6	835	c.796G>A	c.(796-798)Gat>Aat	p.D266N	STAC_uc010hgd.1_Non-coding_Transcript|STAC_uc011aya.1_Missense_Mutation_p.D205N	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	266					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						TGGCACTGATGATTTCAGAGA	0.403000														24			17		0	0	0.001882	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480638	140480638	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140480638A>C	uc003lio.3	+	0	405	c.405A>C	c.(403-405)gaA>gaC	p.E135D	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	135					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATTCTTTGAAAATGAAATGC	0.398000														34			22		0	0	0.001882	0	0
CASR	846	broad.mit.edu	37	3	121981057	121981057	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:121981057G>A	uc003eew.4	+	3	1613	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q	CASR_uc003eev.4_Missense_Mutation_p.R392Q	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	392					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ACAGCCTTCCGACCCCTCTGT	0.493000														22			18		0	0	0.007413	0	0
GDF9	2661	broad.mit.edu	37	5	132197865	132197865	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:132197865G>A	uc003kxz.1	-	1	1033	c.781C>T	c.(781-783)Ccc>Tcc	p.P261S	GDF9_uc011cxj.1_Missense_Mutation_p.P173S	NM_005260	NP_005251	O60383	GDF9_HUMAN	Homo sapiens growth differentiation factor 9 (GDF9), mRNA.	261					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCAGTGAGGGGGACACCAGA	0.438000														24			11		0	0	0.001855	0	0
SALL1	6299	broad.mit.edu	37	16	51171368	51171368	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:51171368G>A	uc021tif.1	-	2	3661	c.3339C>T	c.(3337-3339)ccC>ccT	p.P1113P	SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Silent_p.P62P	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1210					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGAACTTGACGGGATTGCCTC	0.557000														31			9		0	0	0.004482	0	0
CSF2RA	1438	broad.mit.edu	37	X	1428348	1428348	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:1428348C>T	uc010nct.2	+	13	1501	c.1179C>T	c.(1177-1179)gtC>gtT	p.V393V	CRLF2_uc022brt.1_Intron|CSF2RA_uc004cpq.2_3'UTR|CSF2RA_uc004cpn.2_Silent_p.V393V|CSF2RA_uc004cpo.2_Silent_p.V393V|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Silent_p.V260V|CSF2RA_uc004cpp.2_Missense_Mutation_p.L334F|CSF2RA_uc010ncv.2_Silent_p.V427V|CSF2RA_uc004cpr.2_3'UTR	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	393						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GCGAAGAGGTCTTGACCGTGA	0.537000														59			65		0	0	0.003610	0	0
ZNF208	7757	broad.mit.edu	37	19	22157521	22157521	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:22157521T>A	uc021urr.1	-	3	464	c.315A>T	c.(313-315)aaA>aaT	p.K105N	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CATGTCCACATTTTTCATACC	0.333000														26			22		0	0	0.001882	0	0
TRIM51	84767	broad.mit.edu	37	11	55653172	55653172	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55653172G>A	uc010rip.2	+	1	360	c.268G>A	c.(268-270)Gag>Aag	p.E90K	TRIM51_uc010riq.2_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	90						intracellular	zinc ion binding										TAGCTCTGAGGAGCAAATATG	0.493000														11			9		0	0	0.006214	0	0
EXTL3	2137	broad.mit.edu	37	8	28574866	28574866	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:28574866C>T	uc003xgz.1	+	2	1883	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	430						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCTCCACCTTCGCCCTCATCA	0.602000														22			9		0	0	0.004482	0	0
PRRC2A	7916	broad.mit.edu	37	6	31592070	31592070	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:31592070C>T	uc003nvb.4	+	3	572	c.323C>T	c.(322-324)tCg>tTg	p.S108L	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Missense_Mutation_p.S108L|PRRC2A_uc003nve.3_5'Flank	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	108	4 X 57 AA type A repeats.			ESQPLPASQTPASNQPK -> NRTTAGFTDACLQPAE (in Ref. 8; CAA78744).		cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCGCCGGAATCGCAGCCACTG	0.617000														60			7		0	0	0.001984	0	0
BEST4	266675	broad.mit.edu	37	1	45251749	45251749	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:45251749C>T	uc001cmm.3	-	3	682	c.633G>A	c.(631-633)ttG>ttA	p.L211L		NM_153274	NP_695006	Q8NFU0	BEST4_HUMAN	Homo sapiens bestrophin 4 (BEST4), mRNA.	211						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					CACTCACTTCCAAAAGTAGAC	0.507000											OREG0013447	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		77			36		0	0	0.004878	0	0
TRHDE	29953	broad.mit.edu	37	12	72893403	72893403	+	Silent	SNP	C	T	T	rs138225464		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:72893403C>T	uc001sxa.3	+	5	1605	c.1575C>T	c.(1573-1575)atC>atT	p.I525I		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	525					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTGACTGGATCGCATATAAAA	0.388000														12			21		0	0	0.002780	0	0
ZNF473	25888	broad.mit.edu	37	19	50548690	50548690	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:50548690C>T	uc002prn.3	+	4	1227	c.990C>T	c.(988-990)acC>acT	p.T330T	ZNF473_uc002prm.3_Silent_p.T330T|ZNF473_uc010ybo.2_Silent_p.T318T	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA.	330	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGGCTTTTACCCGGATCTTCC	0.507000														75			11		0	0	0.000978	0	0
COPS2	9318	broad.mit.edu	37	15	49437168	49437168	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:49437168G>A	uc001zxh.3	-	1	241	c.162C>T	c.(160-162)ttC>ttT	p.F54F	COPS2_uc001zxf.3_Silent_p.F54F|COPS2_uc010ufa.2_Intron	NM_001143887	NP_001137359	P61201	CSN2_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis) (COPS2), transcript variant 2, mRNA.	54					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		AAACCTTTTGGAAACTGCTTA	0.323000														40			10		0	0	0.000978	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999410	46999410	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:46999410C>T	uc001jec.3	+	2	665	c.530C>T	c.(529-531)gCt>gTt	p.A177V	GPRIN2_uc021ppt.1_Missense_Mutation_p.A177V	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	177										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGGGACCTGGCTCCTGAGGAT	0.632000														55			6		0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179497750	179497750	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179497750C>T	uc021vsy.1	-	182	35629	c.35404G>A	c.(35404-35406)Gga>Aga	p.G11802R	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G5497R|TTN_uc021vta.1_Missense_Mutation_p.G5430R|TTN_uc021vtb.1_Missense_Mutation_p.G5305R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12729	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTTCTTTCCATCCTCAATG	0.388000														30			12		0	0	0.001368	0	0
LRRC66	339977	broad.mit.edu	37	4	52860896	52860896	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:52860896C>T	uc003gzi.3	-	3	2299	c.2292G>A	c.(2290-2292)ggG>ggA	p.G764G		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	764						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TCTTGCATTTCCCTGGAATTG	0.463000														27			36		0	0	0.003755	0	0
SLC22A15	55356	broad.mit.edu	37	1	116577854	116577854	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:116577854G>A	uc001egb.4	+	6	1121	c.991G>A	c.(991-993)Gat>Aat	p.D331N		NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN	Homo sapiens solute carrier family 22, member 15 (SLC22A15), mRNA.	331					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GAGTGCGGGTGATCTAGGTGG	0.453000														51			23		0	0	0.004656	0	0
ZFP64	55734	broad.mit.edu	37	20	50701796	50701796	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:50701796G>A	uc002xwk.3	-	8	1587	c.1238C>T	c.(1237-1239)cCc>cTc	p.P413L	ZFP64_uc002xwj.3_Missense_Mutation_p.P194L	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 4, mRNA.	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCACTGGAAGGGGGTATCCCC	0.542000														10			9		0	0	0.006214	0	0
ZNF836	162962	broad.mit.edu	37	19	52660524	52660524	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:52660524C>T	uc010ydj.2	-	4	934	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	ZNF836_uc010ydi.2_Missense_Mutation_p.E138K	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	Homo sapiens zinc finger protein 836 (ZNF836), mRNA.	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGCTGATTTTCAATACATTTG	0.328000														18			7		0	0	0.001984	0	0
ZNF699	374879	broad.mit.edu	37	19	9406741	9406742	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9406741_9406742AG>TA	uc002mlc.1	-	4	1338_1339	c.1338_1339CT>TA	c.(1336-1341)ccctat>ccTAat	p.Y447N		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	Homo sapiens zinc finger protein 699 (ZNF699), mRNA.	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTACATTCATAGGGTTTCTCTC	0.426000														29			11		0	0	0.004672	0	0
SCN11A	11280	broad.mit.edu	37	3	38961481	38961481	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38961481C>T	uc021wvy.1	-	6	1103	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	302					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)	TCTTTCTTTTCAAAGCAATGG	0.333000														36			15		0	0	0.004990	0	0
LRRC4	64101	broad.mit.edu	37	7	127670245	127670245	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:127670245C>T	uc003vmk.3	-	1	586	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	SND1_uc003vmi.3_Intron|SND1_uc010lle.3_Intron|LRRC4_uc022akv.1_Missense_Mutation_p.R150Q	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA.	150						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CCAGAGCTCCCGCAGCTTGGA	0.612000														49			21		0	0	0.001882	0	0
EPHB1	2047	broad.mit.edu	37	3	134920409	134920409	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:134920409C>A	uc003eqt.3	+	11	2599	c.2224C>A	c.(2224-2226)Cat>Aat	p.H742N	EPHB1_uc003equ.3_Missense_Mutation_p.H303N	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	742	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GAATTATGTGCATCGGGACCT	0.537000														136			20		3.62473e-10	3.99144e-10	0.001882	1	0
CACNA1G	8913	broad.mit.edu	37	17	48678466	48678466	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:48678466C>T	uc002irk.1	+	18	4218	c.3846C>T	c.(3844-3846)gtC>gtT	p.V1282V	CACNA1G_uc002iri.1_Silent_p.V1282V|CACNA1G_uc002irj.1_Silent_p.V1259V|CACNA1G_uc002irl.1_Silent_p.V1259V|CACNA1G_uc002irm.1_Silent_p.V1259V|CACNA1G_uc002irn.1_Silent_p.V1259V|CACNA1G_uc002iro.1_Silent_p.V1259V|CACNA1G_uc002irp.1_Silent_p.V1282V|CACNA1G_uc002irq.1_Silent_p.V1259V|CACNA1G_uc002irr.1_Silent_p.V1282V|CACNA1G_uc002irs.1_Silent_p.V1282V|CACNA1G_uc002irt.1_Silent_p.V1282V|CACNA1G_uc002iru.1_Silent_p.V1259V|CACNA1G_uc002irv.1_Silent_p.V1282V|CACNA1G_uc002irw.1_Silent_p.V1259V|CACNA1G_uc002irx.1_Silent_p.V1195V|CACNA1G_uc002iry.1_Silent_p.V1195V|CACNA1G_uc002isg.1_Silent_p.V1195V|CACNA1G_uc002ish.1_Silent_p.V1195V|CACNA1G_uc002isi.1_Silent_p.V1172V|CACNA1G_uc002irz.1_Silent_p.V1195V|CACNA1G_uc002isa.1_Silent_p.V1195V|CACNA1G_uc002isd.1_Silent_p.V1195V|CACNA1G_uc002isb.1_Silent_p.V1195V|CACNA1G_uc002isc.1_Silent_p.V1195V|CACNA1G_uc002ise.1_Silent_p.V1195V|CACNA1G_uc002isf.1_Silent_p.V1195V|CACNA1G_uc002isj.3_Silent_p.V6V	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1282					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACCACGTGGTCCTTGTCATCA	0.617000														21			60		0	0	0.003610	0	0
DMPK	1760	broad.mit.edu	37	19	46280937	46280937	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:46280937G>A	uc002pdi.1	-	7	1134	c.948C>T	c.(946-948)atC>atT	p.I316I	DMPK_uc010xxs.1_Silent_p.I201I|DMPK_uc002pdd.1_Silent_p.I300I|DMPK_uc002pde.1_Silent_p.I300I|DMPK_uc002pdg.1_Silent_p.I290I|DMPK_uc002pdf.1_Silent_p.I290I|DMPK_uc002pdh.1_Silent_p.I290I|DMPK_uc010xxt.1_Silent_p.I290I	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	300	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TGTAGTGGACGATCTTGCCAT	0.617000														105			52		0	0	0.003610	0	0
BCL11B	64919	broad.mit.edu	37	14	99724148	99724148	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:99724148G>A	uc001yga.3	-	1	354	c.87C>T	c.(85-87)atC>atT	p.I29I	BCL11B_uc001ygb.3_Silent_p.I29I	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	29						nucleus	zinc ion binding	p.A28S(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CTTCTTCGAGGATGGCGGCCT	0.592000			T	TLX3	T-ALL									29			8		0	0	0.006214	0	0
TNPO2	30000	broad.mit.edu	37	19	12822379	12822379	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:12822379G>A	uc002mup.3	-	8	1677	c.1215C>T	c.(1213-1215)atC>atT	p.I405I	TNPO2_uc002muq.3_Silent_p.I313I|TNPO2_uc002muo.3_Silent_p.I313I|TNPO2_uc002mur.3_Silent_p.I313I	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	313					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGAGCAGGATGATGTCAATTT	0.577000														26			12		0	0	0.000978	0	0
OR2H2	7932	broad.mit.edu	37	6	29556431	29556431	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:29556431G>A	uc003nmr.1	+	0	749	c.710G>A	c.(709-711)gGg>gAg	p.G237E	GABBR1_uc003nmp.4_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA.	237					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G237V(2)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						AAAGCTTTTGGGACCTGCTCC	0.532000														56			13		0	0	0.002450	0	0
MYT1L	23040	broad.mit.edu	37	2	1983498	1983498	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:1983498G>A	uc002qxe.3	-	5	879	c.52C>T	c.(52-54)Cga>Tga	p.R18*	MYT1L_uc002qxd.3_Nonsense_Mutation_p.R18*|MYT1L_uc002qxf.1_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	18					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GACATACCTCGAACCCCTTTG	0.587000														10			18		0	0	0.006122	0	0
LPHN2	23266	broad.mit.edu	37	1	82456238	82456238	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:82456238C>T	uc001dit.4	+	20	3802	c.3621C>T	c.(3619-3621)atC>atT	p.I1207I	LPHN2_uc001dis.3_Silent_p.I187I|LPHN2_uc001diu.3_Silent_p.I1207I|LPHN2_uc001div.3_3'UTR|LPHN2_uc009wcd.3_3'UTR|LPHN2_uc001diw.3_Silent_p.I834I	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1263					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.M1206I(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGAAAATGATCATTTCAGAAT	0.463000														26			12		0	0	0.001368	0	0
TEP1	7011	broad.mit.edu	37	14	20864104	20864104	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20864104G>A	uc001vxe.3	-	10	1704	c.1664C>T	c.(1663-1665)tCg>tTg	p.S555L	TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.S447L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	555	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GTGGATCACCGACTTCTAGAA	0.512000														63			17		0	0	0.007413	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171766262	171766262	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:171766262G>A	uc003mbr.3	-	12	2018	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	616					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTGGATTTGGAGATGGGCCG	0.537000														33			18		0	0	0.006122	0	0
KCNQ3	3786	broad.mit.edu	37	8	133144457	133144457	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:133144457C>T	uc003ytj.3	-	13	2079	c.1854G>A	c.(1852-1854)atG>atA	p.M618I	KCNQ3_uc003yti.3_Missense_Mutation_p.M498I|KCNQ3_uc010mdt.3_Missense_Mutation_p.M606I	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	618					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ACTTCCCCATCATGCTTTGGT	0.348000														24			4		0	0	0.009096	0	0
SLC22A6	9356	broad.mit.edu	37	11	62752125	62752125	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:62752125A>C	uc001nwk.3	-	0	371	c.38T>G	c.(37-39)gTc>gGc	p.V13G	SLC22A6_uc001nwl.3_Missense_Mutation_p.V13G|SLC22A6_uc001nwj.3_Missense_Mutation_p.V13G|SLC22A6_uc001nwm.3_Missense_Mutation_p.V13G	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	13					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GAAGCGGCCGACACCCCCCAC	0.637000														16			7		0	0	0.006214	0	0
MUC17	140453	broad.mit.edu	37	7	100686978	100686979	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100686978_100686979CC>TT	uc003uxp.1	+	2	12334_12335	c.12281_12282CC>TT	c.(12280-12282)acc>aTT	p.T4094I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4094						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)					ACCATGACCACCAGGACAAAAC	0.559000														37			19		0	0	0.004672	0	0
KEL	3792	broad.mit.edu	37	7	142638490	142638490	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142638490C>T	uc003wcb.3	-	18	2258	c.2048G>A	c.(2047-2049)aGg>aAg	p.R683K		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	683					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.R683R(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCTGGGCTTCCTACACATCAC	0.607000														68			22		0	0	0.003330	0	0
SLC29A4	222962	broad.mit.edu	37	7	5338676	5338676	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:5338676G>A	uc003sod.3	+	7	1101	c.940G>A	c.(940-942)Gag>Aag	p.E314K	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Missense_Mutation_p.E314K|SLC29A4_uc003soe.3_Missense_Mutation_p.E300K	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	314					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	p.H313H(1)		breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CCCAGCCCACGAGGTGACCGG	0.692000														13			8		0	0	0.003080	0	0
BSND	7809	broad.mit.edu	37	1	55470745	55470745	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:55470745G>A	uc001cye.3	+	1	471	c.228G>A	c.(226-228)aaG>aaA	p.K76K		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA.	76						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						TCTCCCCAAAGGCCATGGGCC	0.607000														54			6		0	0	0.001984	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485152	97485152	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:97485152C>T	uc001vmw.3	+	1	1140	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	372						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					ACCTCAAGTTCATCTCCCCCT	0.493000														50			4		0	0	0.000602	0	0
MMP16	4325	broad.mit.edu	37	8	89058988	89058988	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:89058988C>T	uc003yeb.4	-	8	1680	c.1398G>A	c.(1396-1398)atG>atA	p.M466I		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	466	Hemopexin-like 3.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CCATTGTTTTCATTTCTTCAC	0.368000														69			11		0	0	0.000978	0	0
SELE	6401	broad.mit.edu	37	1	169698761	169698761	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:169698761G>A	uc001ggm.4	-	5	926	c.769C>T	c.(769-771)Caa>Taa	p.Q257*	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	257	Sushi 2.		Q -> P (in dbSNP:rs3917422).		actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CCAGGGTTTTGGAAACATTCC	0.438000														81			34		0	0	0.004289	0	0
PCLO	27445	broad.mit.edu	37	7	82390025	82390025	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82390025C>A	uc003uhx.2	-	23	15507	c.15218G>T	c.(15217-15219)aGa>aTa	p.R5073I		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4996					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						TCGATCATGTCTGCATACTCT	0.328000														45			11		1.58986e-06	1.7425e-06	0.008291	1	0
HMGB4	127540	broad.mit.edu	37	1	34330148	34330148	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:34330148C>T	uc021oky.1	+	0	356	c.356C>T	c.(355-357)tCg>tTg	p.S119L	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Missense_Mutation_p.S119L|HMGB4_uc001bxq.3_Missense_Mutation_p.S45L	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN	Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.	119						nucleus	DNA binding	p.W118L(1)|p.W118S(1)		NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCGAACTGGTCGGTGGTGCAG	0.567000														42			32		0	0	0.002096	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	161927	161927	+	Silent	SNP	G	A	A	rs116463546	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:161927G>A	uc003jak.2	+	9	1499	c.1449G>A	c.(1447-1449)gcG>gcA	p.A483A		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	483					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TACAGCTGGCGAAGGAGAACC	0.587000														27			12		0	0	0.001368	0	0
LOC341056	341056	broad.mit.edu	37	11	122889261	122889261	+	RNA	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:122889261G>A	uc010rzt.2	+	0		c.988G>A								Homo sapiens SUMO1 activating enzyme subunit 1 pseudogene (LOC341056), non-coding RNA.																		TGGTTGGAGGGATTTTGGCAC	0.512000														17			5		0	0	0.000602	0	0
NAV3	89795	broad.mit.edu	37	12	78511887	78511887	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:78511887T>A	uc001syp.3	+	13	3023	c.2850T>A	c.(2848-2850)gaT>gaA	p.D950E	NAV3_uc001syo.3_Missense_Mutation_p.D950E|NAV3_uc010sub.2_Missense_Mutation_p.D450E|NAV3_uc009zsf.3_5'UTR	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	950						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.E949K(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGAAGAAGATTTTGACAGCC	0.488000										HNSCC(70;0.22)				46			65		0	0	0.003610	0	0
SLC17A6	57084	broad.mit.edu	37	11	22381008	22381008	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:22381008C>T	uc001mqk.3	+	3	921	c.508C>T	c.(508-510)Cca>Tca	p.P170S		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	170					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TATGCTAATTCCATCAGCAGC	0.388000														46			24		0	0	0.006320	0	0
KNDC1	85442	broad.mit.edu	37	10	135020700	135020700	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:135020700C>T	uc001llz.1	+	19	3640	c.3639C>T	c.(3637-3639)atC>atT	p.I1213I	KNDC1_uc001lma.1_3'UTR	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1213					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)		TCGTGAACATCGCGGCCGCAC	0.672000														18			5		0	0	0.000602	0	0
DNAH9	1770	broad.mit.edu	37	17	11556305	11556305	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:11556305C>T	uc002gne.3	+	13	2649	c.2581C>T	c.(2581-2583)Cac>Tac	p.H861Y	DNAH9_uc010coo.3_Missense_Mutation_p.H155Y	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	861	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)		CCTTAAGATCCACGCCCTTGT	0.418000														12			11		0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179556794	179556794	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179556794C>T	uc021vsy.1	-	117	28204	c.27979G>A	c.(27979-27981)Gag>Aag	p.E9327K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5988K|TTN_uc010fre.1_Missense_Mutation_p.E438K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10254	Ig-like 76.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTTTTTCTCCTCTGGCACG	0.463000														48			9		0	0	0.006214	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136307852	136307852	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:136307852C>T	uc004cdv.4	+	17	2666	c.2222C>T	c.(2221-2223)cCc>cTc	p.P741L	ADAMTS13_uc004cdp.4_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.P741L|ADAMTS13_uc004cdu.1_Missense_Mutation_p.P710L|ADAMTS13_uc004cdw.4_Missense_Mutation_p.P741L|ADAMTS13_uc004cdx.4_Missense_Mutation_p.P710L|ADAMTS13_uc004cdy.1_Intron|ADAMTS13_uc004cdz.4_Missense_Mutation_p.P411L|ADAMTS13_uc004cdr.1_Intron|ADAMTS13_uc004cds.1_Missense_Mutation_p.P266L	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	741					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)		GTGCTCGAACCCTGCCCTCCC	0.662000														27			6		0	0	0.001984	0	0
VCAN	1462	broad.mit.edu	37	5	82832870	82832870	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:82832870G>A	uc003kii.3	+	7	4404	c.4048G>A	c.(4048-4050)Gaa>Aaa	p.E1350K	VCAN_uc003kij.3_Missense_Mutation_p.E363K|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.E14K	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1350	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.E1350*(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AATAGATTCAGAATCTAAAGA	0.338000														26			4		0	0	0.009096	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31967317	31967317	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:31967317C>T	uc010gek.3	-	8	1223	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	CDK5RAP1_uc002wyy.3_Missense_Mutation_p.E263K|CDK5RAP1_uc002wyz.3_Missense_Mutation_p.E353K|CDK5RAP1_uc002wza.3_Missense_Mutation_p.E353K|CDK5RAP1_uc010gel.3_Missense_Mutation_p.E263K|CDK5RAP1_uc010gem.3_Intron|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.E353K	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1 (CDK5RAP1), transcript variant 1, mRNA.	367					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						ATCCTCATTTCAGGATCTACT	0.463000														31			4		0	0	0.009096	0	0
KRT28	162605	broad.mit.edu	37	17	38950184	38950184	+	Missense_Mutation	SNP	C	T	T	rs144664854	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:38950184C>T	uc002hvh.1	-	5	1159	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	365	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CCCTCGGTCTCGGTTCTGACC	0.567000														131			26		0	0	0.005443	0	0
RASGRP2	10235	broad.mit.edu	37	11	64507261	64507261	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:64507261G>A	uc009ypu.3	-	6	770	c.543C>T	c.(541-543)ttC>ttT	p.F181F	RASGRP2_uc001oat.3_Silent_p.F83F|RASGRP2_uc001oau.3_Silent_p.F36F|RASGRP2_uc009ypv.3_Silent_p.F181F|RASGRP2_uc009ypw.3_Silent_p.F181F	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	181	Ras-GEF.				Ras protein signal transduction|platelet activation|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CATGAGTCACGAAACTGTGAT	0.577000														36			19		0	0	0.010504	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49143278	49143278	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:49143278C>T	uc004dnh.2	+	3	2153	c.2126C>T	c.(2125-2127)cCc>cTc	p.P709L	PPP1R3F_uc004dni.3_Missense_Mutation_p.P363L|PPP1R3F_uc011mnd.2_Missense_Mutation_p.P380L|PPP1R3F_uc004dnj.2_Missense_Mutation_p.P363L	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3F (PPP1R3F), transcript variant 1, mRNA.	709						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CTCCTCAGTCCCTTGGGGGCC	0.587000														4			5		0	0	0.000602	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878928	24878928	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:24878928C>T	uc001wpf.4	+	3	2246	c.1928C>T	c.(1927-1929)cCc>cTc	p.P643L		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	643					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCCAAAACACCCAAAGCTCAA	0.537000														4			3		0	0	0.009096	0	0
MAP7D1	55700	broad.mit.edu	37	1	36645561	36645561	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:36645561G>A	uc001bzz.3	+	15	2624	c.2408G>A	c.(2407-2409)gGa>gAa	p.G803E	MAP7D1_uc001caa.3_Missense_Mutation_p.G770E|MAP7D1_uc001cab.3_Missense_Mutation_p.G765E|MAP7D1_uc001cac.3_Missense_Mutation_p.G502E|MAP7D1_uc001cad.3_Missense_Mutation_p.G339E	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.	803						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				TCCACCAACGGACCCTCTGGG	0.597000														26			14		0	0	0.004007	0	0
LOC440563	440563	broad.mit.edu	37	1	13183479	13183479	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:13183479G>A	uc010obg.2	-	1	637	c.394C>T	c.(394-396)Cct>Tct	p.P132S		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	132						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										GGAGGAGGAGGAGGTACACGT	0.512000														177			41		0	0	0.005524	0	0
TJP3	27134	broad.mit.edu	37	19	3728436	3728436	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:3728436G>A	uc010xhv.2	+	0	63	c.63G>A	c.(61-63)gaG>gaA	p.E21E	TJP3_uc010xhs.2_Silent_p.E2E|TJP3_uc010xht.2_Intron|TJP3_uc010xhu.2_Silent_p.E11E|TJP3_uc010xhw.2_Silent_p.E21E	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	2	PDZ 1.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGACATGGAGGAGCTGACCA	0.637000														22			6		0	0	0.001984	0	0
ANPEP	290	broad.mit.edu	37	15	90340908	90340908	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:90340908G>A	uc002bop.4	-	14	2347	c.2055C>T	c.(2053-2055)ttC>ttT	p.F685F		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	685	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CTTCAATCAGGAAGAGGGTGT	0.577000														76			32		0	0	0.006230	0	0
FAM75A6	389730	broad.mit.edu	37	9	43626641	43626641	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:43626641C>T	uc011lrb.2	-	3	2075	c.2046G>A	c.(2044-2046)atG>atA	p.M682I		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	682						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						GGAAGCTTTTCATGTCCCTGG	0.517000														62			35		0	0	0.003610	0	0
TRANK1	9881	broad.mit.edu	37	3	36873841	36873841	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:36873841C>T	uc003cgj.3	-	20	7349	c.7101G>A	c.(7099-7101)gaG>gaA	p.E2367E		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2367					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CAATGCAATTCTCCAGAAGCC	0.453000														61			33		0	0	0.003755	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935935	151935935	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:151935935G>A	uc022chl.1	-	0	232	c.232C>T	c.(232-234)Cct>Tct	p.P78S	MAGEA3_uc004fgp.3_Missense_Mutation_p.P78S	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	78										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCAGAGAGGGTAGTTCATG	0.592000														7			14		0	0	0.006122	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23003353	23003353	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:23003353G>A	uc003xcz.1	-	4	656	c.564C>T	c.(562-564)tcC>tcT	p.S188S		NM_003840	NP_003831	Q9UBN6	TR10D_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain (TNFRSF10D), mRNA.	188					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TTTTCCCAGTGGAACTGGCAG	0.517000														60			10		0	0	0.008291	0	0
RNF17	56163	broad.mit.edu	37	13	25439030	25439030	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:25439030G>A	uc001upr.3	+	28	4036	c.3995G>A	c.(3994-3996)tGg>tAg	p.W1332*	RNF17_uc010tde.2_Nonsense_Mutation_p.W1328*|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Nonsense_Mutation_p.W1271*|RNF17_uc010aac.3_Nonsense_Mutation_p.W524*|RNF17_uc010aad.3_Intron	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1332					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AAAAATCCATGGGAGAAATTG	0.289000														21			33		0	0	0.004878	0	0
GPR132	29933	broad.mit.edu	37	14	105517529	105517529	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:105517529G>A	uc001yqd.3	-	3	1844	c.945C>T	c.(943-945)tcC>tcT	p.S315S	GPR132_uc001yqc.3_Silent_p.S127S|GPR132_uc001yqe.3_Silent_p.S306S	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.	315					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CTTCTTGGCGGGAATGGTCCG	0.577000														29			7		0	0	0.001984	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8999144	8999144	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:8999144G>A	uc022arp.1	-	0	18	c.18C>T	c.(16-18)atC>atT	p.I6I	PPP1R3B_uc003wsn.4_Silent_p.I6I|PPP1R3B_uc003wso.4_Silent_p.I6I	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3B (PPP1R3B), transcript variant 2, mRNA.	6					glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		ATCTGTACTCGATGTCCACAG	0.483000														14			12		0	0	0.001855	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97371130	97371130	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:97371130G>A	uc001kkz.3	-	15	2235	c.1993C>T	c.(1993-1995)Cga>Tga	p.R665*	ALDH18A1_uc001kky.3_Nonsense_Mutation_p.R663*|ALDH18A1_uc010qog.2_Nonsense_Mutation_p.R554*|ALDH18A1_uc010qoh.2_Nonsense_Mutation_p.R453*	NM_002860	NP_002851	P54886	P5CS_HUMAN	Homo sapiens aldehyde dehydrogenase 18 family, member A1 (ALDH18A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	665	Gamma-glutamyl phosphate reductase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity	p.R665R(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	TACTCAGTTCGGAGTGACTTC	0.502000														111			33		0	0	0.005524	0	0
LRRC66	339977	broad.mit.edu	37	4	52861265	52861266	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:52861265_52861266GG>AA	uc003gzi.3	-	3	1929_1930	c.1922_1923CC>TT	c.(1921-1923)tcc>tTT	p.S641F		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	641						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCCTTGCCCCGGACAGCCTTGG	0.530000														20			21		0	0	0.004672	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73022164	73022164	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:73022164C>T	uc001otu.3	+	0	2502	c.2481C>T	c.(2479-2481)tcC>tcT	p.S827S		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	827					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AGAAGAAATCCCTGAGTGACC	0.622000														47			32		0	0	0.002445	0	0
MXD3	83463	broad.mit.edu	37	5	176734770	176734771	+	Missense_Mutation	DNP	CG	TA	TA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:176734770_176734771CG>TA	uc003mga.3	-	4	977_978	c.516_517CG>TA	c.(514-519)cccgag>ccTAag	p.E173K	MXD3_uc021yir.1_5'UTR|MXD3_uc010jkk.2_Intron|MXD3_uc003mgb.2_Intron	NM_001142935	NP_001136407	Q9BW11	MAD3_HUMAN	Homo sapiens MAX dimerization protein 3 (MXD3), transcript variant 2, mRNA.	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTCAGCCTCGGGGCACTCAC	0.693000														11			5		0	0	0.004672	0	0
C9orf152	401546	broad.mit.edu	37	9	112963499	112963499	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:112963499C>T	uc011lwk.2	-	1	1003	c.449G>A	c.(448-450)aGg>aAg	p.R150K	C9orf152_uc022blq.1_5'Flank	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.	150										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AGGAGGGAGCCTTTGATCAGA	0.542000														116			23		0	0	0.004656	0	0
FCN2	2220	broad.mit.edu	37	9	137772724	137772724	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:137772724C>T	uc004cfg.1	+	0	67	c.57C>T	c.(55-57)ttC>ttT	p.F19F	FCN2_uc004cfh.1_Silent_p.F19F	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	19					complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		TGCTCTCTTTCCTGGGCATGG	0.612000														43			11		0	0	0.000978	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74911432	74911432	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:74911432G>A	uc001owb.3	+	11	2158	c.1763_splice	c.e11+1	p.R588_splice	SLCO2B1_uc010rrq.2_Splice_Site_p.R333_splice|SLCO2B1_uc010rrr.2_Splice_Site_p.R444_splice|SLCO2B1_uc010rrs.2_Splice_Site_p.R472_splice|SLCO2B1_uc001owc.3_Splice_Site_p.R361_splice|SLCO2B1_uc001owd.3_Splice_Site_p.R566_splice	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	588					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CTCATCCTAAGGTGAAGGTGG	0.602000														56			28		0	0	0.007291	0	0
DRD2	1813	broad.mit.edu	37	11	113283471	113283471	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:113283471G>A	uc001pnz.3	-	5	1266	c.945C>T	c.(943-945)ctC>ctT	p.L315L	DRD2_uc010rwv.2_Silent_p.L314L|DRD2_uc001poa.4_Silent_p.L315L|DRD2_uc001pob.4_Silent_p.L286L	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	315	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GAGTGCTGTGGAGACCATGGT	0.612000														37			18		0	0	0.002780	0	0
KSR2	283455	broad.mit.edu	37	12	118105313	118105313	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:118105313G>A	uc001two.2	-	4	1105	c.1050C>T	c.(1048-1050)acC>acT	p.T350T		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	379					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAACAGGAGGGGTGGAAGGCA	0.632000														6			8		0	0	0.003080	0	0
NLRX1	79671	broad.mit.edu	37	11	119050756	119050756	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:119050756C>T	uc001pvu.3	+	6	2241	c.2026C>T	c.(2026-2028)Ctt>Ttt	p.L676F	NLRX1_uc010rzc.1_Missense_Mutation_p.L498F|NLRX1_uc001pvv.3_Missense_Mutation_p.L676F|NLRX1_uc001pvw.3_Missense_Mutation_p.L676F|NLRX1_uc001pvx.3_Missense_Mutation_p.L676F	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	676	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	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)		ATCAGAGCTCCTTGACCACCT	0.607000														14			4		0	0	0.009096	0	0
CORO1A	11151	broad.mit.edu	37	16	30199684	30199684	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:30199684G>A	uc010bzq.3	+	10	1503	c.1068G>A	c.(1066-1068)tcG>tcA	p.S356S	BOLA2_uc010bzb.1_Intron|CORO1A_uc002dww.3_Silent_p.S356S|CORO1A_uc002dwx.3_Silent_p.S250S|CORO1A_uc002dwy.1_3'UTR|CORO1A_uc002dwz.1_5'Flank	NM_001193333	NP_009005	P31146	COR1A_HUMAN	Homo sapiens coronin, actin binding protein, 1A (CORO1A), transcript variant 1, mRNA.	356					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						GCCCACAGTCGGACCTGTTCC	0.677000														73			19		0	0	0.007413	0	0
DCLK1	9201	broad.mit.edu	37	13	36428682	36428682	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:36428682G>A	uc001uvf.3	-	5	1272	c.989C>T	c.(988-990)tCg>tTg	p.S330L	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Missense_Mutation_p.S23L|DCLK1_uc010teh.2_Missense_Mutation_p.S23L|DCLK1_uc010abk.3_Missense_Mutation_p.S23L|DCLK1_uc001uvh.4_Missense_Mutation_p.S23L	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	330	Pro/Ser-rich.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.S330S(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TGGGCTTGGCGACTTGCCTGA	0.493000														51			8		0	0	0.006214	0	0
RSPRY1	89970	broad.mit.edu	37	16	57254647	57254647	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:57254647T>C	uc002elb.3	+	8	1183	c.905T>C	c.(904-906)tTa>tCa	p.L302S	RSPRY1_uc002elc.3_Missense_Mutation_p.L302S|RSPRY1_uc002eld.3_Missense_Mutation_p.L302S	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA.	302	B30.2/SPRY.					extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TTTGCAGTTTTAAAAGAAGGT	0.428000														26			7		0	0	0.001984	0	0
SORCS3	22986	broad.mit.edu	37	10	106907543	106907543	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:106907543G>A	uc001kyi.1	+	8	1698	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	491						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CATCATTATTGAATTGTATGA	0.438000														24			9		0	0	0.004482	0	0
FRAS1	80144	broad.mit.edu	37	4	79440572	79440572	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:79440572T>A	uc003hlb.2	+	66	10917	c.10477T>A	c.(10477-10479)Tcc>Acc	p.S3493T		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3488					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGGCTGGGCCTCCTTGGAGCA	0.532000														67			72		0	0	0.003610	0	0
MXRA5	25878	broad.mit.edu	37	X	3240208	3240208	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:3240208G>A	uc004crg.4	-	4	3675	c.3518C>T	c.(3517-3519)aCt>aTt	p.T1173I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1173						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGGGGCAAAAGTTGTGGGTGG	0.507000														29			51		0	0	0.003610	0	0
SIK3	23387	broad.mit.edu	37	11	116732000	116732000	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:116732000G>A	uc001ppy.3	-	17	2133	c.2097C>T	c.(2095-2097)atC>atT	p.I699I	SIK3_uc001ppz.3_Silent_p.I598I|SIK3_uc001pqa.3_Silent_p.I699I|SIK3_uc001ppw.3_Silent_p.I116I|SIK3_uc001ppx.3_Intron|SIK3_uc001pqb.3_Silent_p.I2I	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	699	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CGTGAGGCTGGATCATGGCAC	0.498000														294			44		0	0	0.003610	0	0
TTLL2	83887	broad.mit.edu	37	6	167754924	167754924	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:167754924G>A	uc003qvs.1	+	2	1624	c.1536G>A	c.(1534-1536)cgG>cgA	p.R512R		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	512					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCAAGTTACGGAGCAGGCACA	0.577000														49			11		0	0	0.002450	0	0
FRAS1	80144	broad.mit.edu	37	4	79410226	79410226	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:79410226G>T	uc003hlb.2	+	58	9390	c.8950G>T	c.(8950-8952)Ggg>Tgg	p.G2984W		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2979	Calx-beta 4.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATTTCTCAAAGGGGACAAAGT	0.398000														17			14		2.31682e-05	2.5345e-05	0.003163	1	0
ARG2	384	broad.mit.edu	37	14	68114885	68114885	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:68114885G>A	uc001xjs.3	+	6	960	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K		NM_001172	NP_001163	P78540	ARGI2_HUMAN	Homo sapiens arginase, type II (ARG2), nuclear gene encoding mitochondrial protein, mRNA.	282					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TATTGCTGAGGAAATACACAA	0.443000														40			4		0	0	0.009096	0	0
PTGFR	5737	broad.mit.edu	37	1	78959150	78959150	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:78959150G>A	uc001din.3	+	1	988	c.722G>A	c.(721-723)aGa>aAa	p.R241K	PTGFR_uc001dim.3_Missense_Mutation_p.R241K	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	241					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.R241T(6)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AGACAAGGCAGATCTCATCAT	0.423000														43			30		0	0	0.008361	0	0
MRGPRD	116512	broad.mit.edu	37	11	68748292	68748292	+	Missense_Mutation	SNP	C	T	T	rs138059734	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:68748292C>T	uc010rqf.2	-	0	164	c.164G>A	c.(163-165)cGa>cAa	p.R55Q		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	Homo sapiens MAS-related GPR, member D (MRGPRD), mRNA.	55						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTGTGCATTCGAAAGCCCAG	0.597000														33			23		0	0	0.002299	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21789447	21789447	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:21789447G>A	uc001wag.3	+	11	1497	c.1497G>A	c.(1495-1497)aaG>aaA	p.K499K	RPGRIP1_uc001wah.3_Silent_p.K141K|RPGRIP1_uc001wai.3_Silent_p.K141K|RPGRIP1_uc001waj.1_5'UTR|RPGRIP1_uc001wak.3_5'UTR|RPGRIP1_uc010aim.3_5'Flank|RPGRIP1_uc001wal.3_5'Flank|RPGRIP1_uc001wam.3_5'Flank	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	499					response to stimulus|visual perception	cilium		p.P498H(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AAGAAGAAAAGAAACTGTCCC	0.403000														18			13		0	0	0.001855	0	0
PTH2R	5746	broad.mit.edu	37	2	209353869	209353869	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:209353869C>T	uc010zjb.2	+	10	1528	c.1242C>T	c.(1240-1242)tcC>tcT	p.S414S	PTH2R_uc002vdb.3_Silent_p.S403S|PTH2R_uc010fuo.1_Non-coding_Transcript	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	403						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TCTTCAACTCCTTTCAGGTAA	0.468000														31			18		0	0	0.007413	0	0
AFF2	2334	broad.mit.edu	37	X	148037391	148037391	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:148037391G>A	uc004fcp.3	+	10	2295	c.1816G>A	c.(1816-1818)Gaa>Aaa	p.E606K	AFF2_uc004fcq.3_Missense_Mutation_p.E596K|AFF2_uc004fcr.3_Missense_Mutation_p.E567K|AFF2_uc011mxb.2_Missense_Mutation_p.E571K|AFF2_uc004fcs.3_Missense_Mutation_p.E573K|AFF2_uc011mxc.2_Missense_Mutation_p.E247K	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	606					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.P605T(2)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAAAATTCCAGAAACAAAGGC	0.468000														20			47		0	0	0.003610	0	0
KCND2	3751	broad.mit.edu	37	7	119915245	119915245	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:119915245T>C	uc003vjj.1	+	0	1524	c.559T>C	c.(559-561)Ttc>Ctc	p.F187L		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	187					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)					GGCCCTGGTGTTCTACTATGT	0.582000														29			10		0	0	0.006214	0	0
OR2T3	343173	broad.mit.edu	37	1	248637008	248637008	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248637008C>T	uc001iel.1	+	0	357	c.357C>T	c.(355-357)ctC>ctT	p.L119L		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			AGGTTTTCCTCCTGGCTGCCA	0.562000														20			6		0	0	0.002450	0	0
ZP2	7783	broad.mit.edu	37	16	21222689	21222689	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:21222689G>A	uc010bwn.1	-	1	289	c.207C>T	c.(205-207)ttC>ttT	p.F69F	ZP2_uc002dii.2_Silent_p.F30F|ZP2_uc010bwo.3_Silent_p.F69F	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	30					binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TCACAAGGGCGAAGAAGAGAG	0.463000														51			27		0	0	0.008361	0	0
C1orf150	148823	broad.mit.edu	37	1	247712513	247712513	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:247712513G>A	uc001idf.3	+	0	167	c.20G>A	c.(19-21)cGa>cAa	p.R7Q	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Intron	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	7								p.R7R(1)		breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TATCTCCTGCGAAAACTCAGG	0.463000														41			16		0	0	0.004007	0	0
LRRC40	55631	broad.mit.edu	37	1	70644645	70644645	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:70644645G>A	uc001der.2	-	5	831	c.693C>T	c.(691-693)ctC>ctT	p.L231L		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	Homo sapiens leucine rich repeat containing 40 (LRRC40), mRNA.	231										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TAGTTTCCAAGAGATTTGAAT	0.308000														29			11		0	0	0.001855	0	0
PVALB	5816	broad.mit.edu	37	22	37211164	37211164	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:37211164G>A	uc010gwz.3	-	1	207	c.177C>T	c.(175-177)atC>atT	p.I59I	PVALB_uc003apx.3_Silent_p.I59I	NM_002854	NP_002845	P20472	PRVA_HUMAN	Homo sapiens parvalbumin (PVALB), mRNA.	59	EF-hand 1.						calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						CATCCTCCTCGATGAAGCCAC	0.557000														19			7		0	0	0.003080	0	0
ODZ4	26011	broad.mit.edu	37	11	78467953	78467953	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:78467953G>A	uc001ozl.4	-	18	3116	c.2653C>T	c.(2653-2655)Cct>Tct	p.P885S		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	885					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						TGTGACACAGGGACCTGTGTC	0.587000														23			13		0	0	0.002450	0	0
PTPRT	11122	broad.mit.edu	37	20	40980823	40980823	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:40980823C>T	uc002xkg.3	-	9	1847	c.1663G>A	c.(1663-1665)Ggt>Agt	p.G555S	PTPRT_uc010ggj.3_Missense_Mutation_p.G555S	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	555	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGGTACAGACCCACAAAGAGG	0.567000														53			25		0	0	0.003954	0	0
DHRS1	115817	broad.mit.edu	37	14	24765783	24765783	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:24765783G>T	uc001woj.2	-	3	575	c.306C>A	c.(304-306)aaC>aaA	p.N102K	HP08474_uc021rro.1_Intron|DHRS1_uc010aln.2_5'Flank|DHRS1_uc001wok.3_Missense_Mutation_p.N102K	NM_138452	NP_612461	Q96LJ7	DHRS1_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 1 (DHRS1), transcript variant 2, mRNA.	102						endoplasmic reticulum	binding|oxidoreductase activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		TATTCCTGGTGTTCAGGATCG	0.552000											OREG0022622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		101			17		9.16793e-09	1.00802e-08	0.004990	1	0
PLAA	9373	broad.mit.edu	37	9	26926415	26926415	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:26926415T>A	uc003zqd.3	-	4	1134	c.709A>T	c.(709-711)Ata>Tta	p.I237L	PLAA_uc003zqe.2_Missense_Mutation_p.I237L	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	Homo sapiens phospholipase A2-activating protein (PLAA), mRNA.	237					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		AAAACGGATATGCTATAAATA	0.328000														59			19		0	0	0.010504	0	0
OR13F1	138805	broad.mit.edu	37	9	107266684	107266684	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:107266684C>T	uc011lvm.2	+	0	141	c.141C>T	c.(139-141)tcC>tcT	p.S47S		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTCTGATCTCCATCACCATTC	0.478000														62			37		0	0	0.007835	0	0
PDZD2	23037	broad.mit.edu	37	5	32000348	32000348	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:32000348G>A	uc003jhl.3	+	4	1613	c.1225G>A	c.(1225-1227)Gga>Aga	p.G409R	PDZD2_uc003jhm.3_Missense_Mutation_p.G409R|PDZD2_uc011cnx.1_Missense_Mutation_p.G235R	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	409	PDZ 2.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.T408T(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCCGCCACGGGAATGGTGCA	0.557000														80			18		0	0	0.001882	0	0
RNF128	79589	broad.mit.edu	37	X	106016214	106016214	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:106016214G>A	uc004eml.3	+	1	806	c.556G>A	c.(556-558)Ggc>Agc	p.G186S	RNF128_uc004emk.3_Missense_Mutation_p.G160S	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	186						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TATTCAAAGAGGCATACAAGT	0.343000														10			32		0	0	0.009535	0	0
FAM3D	131177	broad.mit.edu	37	3	58635049	58635049	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:58635049C>T	uc003dkq.3	-	3	435	c.138G>A	c.(136-138)aaG>aaA	p.K46K		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	Homo sapiens family with sequence similarity 3, member D (FAM3D), mRNA.	46					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		CACGGATCTCCTTGGTGGGCG	0.632000														27			15		0	0	0.007413	0	0
OTOGL	283310	broad.mit.edu	37	12	80761442	80761442	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:80761442C>T	uc001szd.3	+	52	6412	c.6406C>T	c.(6406-6408)Ctg>Ttg	p.L2136L	OTOGL_uc021rba.1_Silent_p.L155L|OTOGL_uc009zsg.2_Silent_p.L16L	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TATAGAGTGTCTGGAAGAAAA	0.323000														0			9		0	0	0.004482	0	0
SEMA3E	9723	broad.mit.edu	37	7	83029528	83029529	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:83029528_83029529GG>AA	uc003uhy.2	-	10	1802_1803	c.1181_1182CC>TT	c.(1180-1182)acc>aTT	p.T394I	SEMA3E_uc022agy.1_Missense_Mutation_p.T334I	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	394	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GATAGTCCTTGGTGGTTCCGTA	0.386000														100			19		0	0	0.004672	0	0
TNP2	7142	broad.mit.edu	37	16	11362996	11362996	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:11362996G>A	uc002das.3	-	0	165	c.124C>T	c.(124-126)Cgt>Tgt	p.R42C	RMI2_uc002daq.1_Intron	NM_005425	NP_005416	Q05952	STP2_HUMAN	Homo sapiens transition protein 2 (during histone to protamine replacement) (TNP2), mRNA.	42					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						CGGCTGCCACGATGGCTCTGT	0.632000														182			84		0	0	0.003610	0	0
EPB41L2	2037	broad.mit.edu	37	6	131247777	131247777	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:131247777C>T	uc003qch.2	-	3	960	c.778G>A	c.(778-780)Gga>Aga	p.G260R	EPB41L2_uc010kfl.2_Missense_Mutation_p.G260R|EPB41L2_uc003qcg.1_Missense_Mutation_p.G260R|EPB41L2_uc003qci.3_Missense_Mutation_p.G260R|EPB41L2_uc011eby.2_Missense_Mutation_p.G260R|EPB41L2_uc010kfk.2_Missense_Mutation_p.G260R	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	260	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		AACAAAAGTCCAAAGTAGTCT	0.308000														76			22		0	0	0.003954	0	0
COL4A4	1286	broad.mit.edu	37	2	227898195	227898195	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:227898195G>T	uc021vxr.1	-	36	3609	c.3508C>A	c.(3508-3510)Ccc>Acc	p.P1170T	COL4A4_uc021vxs.1_Missense_Mutation_p.P1170T	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1170	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)		GATCCGGAGGGACCTGAAAAA	0.542000											OREG0015250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		31			12		2.61681e-11	2.8859e-11	0.002450	1	0
KDM4D	55693	broad.mit.edu	37	11	94731240	94731240	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:94731240C>T	uc021qow.1	+	0	704	c.704C>T	c.(703-705)tCc>tTc	p.S235F	KDM4D_uc001pfe.3_Missense_Mutation_p.S235F	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.	235	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCAGGCAGTTCCCGGGGTTGT	0.592000														42			10		0	0	0.000978	0	0
MYH6	4624	broad.mit.edu	37	14	23855677	23855677	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:23855677G>A	uc001wjv.3	-	32	4877	c.4806C>T	c.(4804-4806)tcC>tcT	p.S1602S		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1602					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTGCATCCAGGGAGGTCTGCA	0.592000														119			21		0	0	0.001882	0	0
LPAR4	2846	broad.mit.edu	37	X	78011171	78011171	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:78011171C>T	uc022bzj.1	+	0	805	c.805C>T	c.(805-807)Ctc>Ttc	p.L269F	LPAR4_uc010nme.3_Missense_Mutation_p.L269F	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	269						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CAACTCTGTCCTCTTCTTGTA	0.408000														10			13		0	0	0.001368	0	0
PGPEP1	54858	broad.mit.edu	37	19	18453694	18453694	+	Silent	SNP	C	T	T	rs147343602		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:18453694C>T	uc002nis.1	+	1	144	c.60C>T	c.(58-60)acC>acT	p.T20T	PGPEP1_uc002nir.1_Non-coding_Transcript|PGPEP1_uc002nit.1_5'UTR|PGPEP1_uc010xqg.1_Intron	NM_017712	NP_060182	Q9NXJ5	PGPI_HUMAN	Homo sapiens pyroglutamyl-peptidase I (PGPEP1), mRNA.	20							cysteine-type peptidase activity										GGGAACACACCGTGAACGCCA	0.537000														34			21		0	0	0.002780	0	0
RFX6	222546	broad.mit.edu	37	6	117198604	117198604	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:117198604G>A	uc003pxm.3	+	0	229	c.166G>A	c.(166-168)Gag>Aag	p.E56K		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	56					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GCCCGGGGGCGAGCAGGGCGG	0.667000														4			4		0	0	0.009096	0	0
ASPHD1	253982	broad.mit.edu	37	16	29912865	29912865	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:29912865C>T	uc002dut.3	+	0	719	c.573C>T	c.(571-573)ttC>ttT	p.F191F	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_5'Flank|SEZ6L2_uc010vec.2_5'Flank|SEZ6L2_uc002dur.4_5'Flank|SEZ6L2_uc002duq.4_5'Flank|SEZ6L2_uc010ved.2_5'Flank|SEZ6L2_uc002dus.4_5'Flank|ASPHD1_uc002duu.3_Non-coding_Transcript|ASPHD1_uc010bzi.2_Non-coding_Transcript	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 1 (ASPHD1), mRNA.	191					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						GCCTGCTTTTCCTACCAGACC	0.672000														74			19		0	0	0.008871	0	0
FAM71B	153745	broad.mit.edu	37	5	156589953	156589953	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:156589953C>T	uc003lwn.3	-	1	1423	c.1323G>A	c.(1321-1323)agG>agA	p.R441R		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	441						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGAACTTTTCCTACTGGGAT	0.502000														274			82		0	0	0.003610	0	0
CNGA3	1261	broad.mit.edu	37	2	98996810	98996810	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:98996810G>A	uc010fij.3	+	3	541	c.400G>A	c.(400-402)Ggg>Agg	p.G134R	CNGA3_uc002syt.3_Missense_Mutation_p.G130R|CNGA3_uc002syu.3_Missense_Mutation_p.G130R			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	130					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						AGCAGACAGAGGGAGAAGGTA	0.572000														9			7		0	0	0.006214	0	0
ABCB1	5243	broad.mit.edu	37	7	87148741	87148741	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:87148741G>A	uc003uiz.2	-	23	3321	c.2828C>T	c.(2827-2829)tCc>tTc	p.S943F	ABCB1_uc011khc.2_Missense_Mutation_p.S879F	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	943	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTGGGTGAAGGAAAATGTAAT	0.383000														32			21		0	0	0.008871	0	0
ZNF827	152485	broad.mit.edu	37	4	146824066	146824066	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:146824066G>A	uc003ikn.3	-	1	393	c.345C>T	c.(343-345)tcC>tcT	p.S115S	ZNF827_uc003ikm.3_Silent_p.S115S|ZNF827_uc010iox.3_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GGGGCTTGTTGGAGCCTGGGT	0.582000														27			4		0	0	0.009096	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587688	42587688	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:42587688G>A	uc003xpi.1	+	4	1366	c.1238G>A	c.(1237-1239)aGc>aAc	p.S413N		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	413					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CATTTTATCAGCCAGGTGAGT	0.348000														29			5		0	0	0.001984	0	0
OR5B2	390190	broad.mit.edu	37	11	58190485	58190485	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:58190485G>A	uc010rkg.2	-	0	302	c.250C>T	c.(250-252)Ctt>Ttt	p.L84F		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCTCCTCTAAGGAACCCAGCC	0.493000														60			33		0	0	0.004289	0	0
CELF5	60680	broad.mit.edu	37	19	3293399	3293399	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:3293399C>T	uc002lxm.3	+	11	1450	c.1413C>T	c.(1411-1413)ctC>ctT	p.L471L	CELF5_uc010dtj.2_3'UTR|CELF5_uc002lxl.2_3'UTR|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.	471	RRM 3.				mRNA processing	cytoplasm|nucleus	RNA binding|nucleotide binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						TGAAGAGGCTCAAAGTCCAGC	0.652000														37			12		0	0	0.000978	0	0
PDE4C	5143	broad.mit.edu	37	19	18332997	18332997	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:18332997C>T	uc010xqc.2	-	1	859	c.379G>A	c.(379-381)Gac>Aac	p.D127N	PDE4C_uc002nik.4_Missense_Mutation_p.D127N|PDE4C_uc002nil.4_Missense_Mutation_p.D127N|PDE4C_uc002nig.4_5'Flank|PDE4C_uc002nih.4_5'Flank|PDE4C_uc010ebk.3_Missense_Mutation_p.D21N|PDE4C_uc002nii.4_Missense_Mutation_p.D95N|PDE4C_uc002nif.4_5'UTR|PDE4C_uc010ebl.3_5'UTR|PDE4C_uc010ebm.1_5'Flank|PDE4C_uc002nim.1_Missense_Mutation_p.D127N	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	127					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	AGTTCATAGTCGCTATCTGAG	0.652000														27			4		0	0	0.000602	0	0
DNAH10	196385	broad.mit.edu	37	12	124364269	124364270	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:124364269_124364270TC>GT	uc001uft.4	+	48	8226_8227	c.8201_8202TC>GT	c.(8200-8202)ttc>tGT	p.F2734C		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2734					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTTGGAGACTTCCAGATGGCTC	0.510000														71			102		0	0	0.004672	0	0
SLC12A3	6559	broad.mit.edu	37	16	56916348	56916348	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:56916348C>T	uc002ekd.4	+	12	1637	c.1608C>T	c.(1606-1608)ttC>ttT	p.F536F	SLC12A3_uc010ccm.3_Silent_p.F536F|SLC12A3_uc010ccn.3_Silent_p.F535F	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	536					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CCAACTTCTTCCTCTGCTCCT	0.572000														51			15		0	0	0.004990	0	0
GTF3C2	2976	broad.mit.edu	37	2	27560827	27560827	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:27560827G>A	uc002rju.1	-	4	1346	c.949C>T	c.(949-951)Cct>Tct	p.P317S	GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rjv.1_Missense_Mutation_p.P306S|GTF3C2_uc002rjw.1_Missense_Mutation_p.P306S|GTF3C2_uc010eyz.2_Missense_Mutation_p.P306S	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA.	306						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCAAACAGGAGCCATGATA	0.483000														165			101		0	0	0.003610	0	0
GPC3	2719	broad.mit.edu	37	X	132730510	132730510	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:132730510C>T	uc010nrn.2	-	7	1797	c.1600G>A	c.(1600-1602)Gat>Aat	p.D534N	GPC3_uc004exe.2_Missense_Mutation_p.D511N|GPC3_uc011mvh.2_Missense_Mutation_p.D495N|GPC3_uc010nro.2_Missense_Mutation_p.D457N	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	511						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					ATCATTCCATCACCAGAGCCT	0.428000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome					23			38		0	0	0.009718	0	0
UNC13C	440279	broad.mit.edu	37	15	54914527	54914527	+	Missense_Mutation	SNP	C	T	T	rs141439711	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:54914527C>T	uc021smr.1	+	28	6103	c.6103C>T	c.(6103-6105)Cgt>Tgt	p.R2035C	UNC13C_uc021sms.1_Missense_Mutation_p.R2037C|UNC13C_uc002acm.3_5'UTR	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	2037					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.Q2035P(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)		ATTTTCAGGTCGTTCCTCCAA	0.398000														32			20		0	0	0.002780	0	0
LRG1	116844	broad.mit.edu	37	19	4538810	4538810	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:4538810G>A	uc002mau.3	-	1	197	c.186C>T	c.(184-186)atC>atT	p.I62I	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	62						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTAGCCGGGGATTTCGGCAG	0.637000														56			16		0	0	0.007413	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15444102	15444102	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:15444102G>A	uc003gno.3	+	2	829	c.570G>A	c.(568-570)ggG>ggA	p.G190G	C1QTNF7_uc011bxb.2_Silent_p.G183G|C1QTNF7_uc003gnp.3_Silent_p.G183G	NM_001135170	NP_114117	Q9BXJ2	C1QT7_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 7 (C1QTNF7), transcript variant 1, mRNA.	183	C1q.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CTGCCACAGGGAAGTTCATCT	0.438000														50			84		0	0	0.003610	0	0
ZNF99	7652	broad.mit.edu	37	19	22951144	22951144	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:22951144C>T	uc021urt.1	-	2	344	c.189G>A	c.(187-189)tgG>tgA	p.W63*		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.V62F(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTTCATATTCCAAGGCTCTT	0.378000														13			6		0	0	0.006214	0	0
ENAH	55740	broad.mit.edu	37	1	225700644	225700644	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:225700644G>A	uc001hpc.1	-	7	1746	c.1293C>T	c.(1291-1293)ggC>ggT	p.G431G	ENAH_uc021pju.1_Silent_p.G381G|ENAH_uc001hpd.1_Silent_p.G431G|ENAH_uc001hpb.1_Silent_p.G50G	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	Homo sapiens enabled homolog (Drosophila) (ENAH), transcript variant 1, mRNA.	431	EVH2.				T cell receptor signaling pathway|axon guidance|intracellular transport	cytosol|filopodium|focal adhesion|lamellipodium|synapse	SH3 domain binding|WW domain binding|actin binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		CATTTCCACGGCCTGTATCTG	0.453000														77			33		0	0	0.003271	0	0
HLA-DRB5	3127	broad.mit.edu	37	6	32549490	32549490	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:32549490C>T	uc003obp.4	-	2	590	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	HLA-DRB5_uc003obk.4_Intron|HLA-DRB5_uc021yvx.1_Intron|HLA-DRB5_uc003obo.1_Intron|AK293020_uc010jub.1_5'Flank|HLA-DRB5_uc011dqb.1_5'UTR|HLA-DRB5_uc011dqc.1_5'UTR	NM_002124	NP_002115	Q30154	DRB5_HUMAN	Homo sapiens major histocompatibility complex, class II, DR beta 1 (HLA-DRB1), transcript variant 1, mRNA.	166	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						GCCTTCTCTTCCTGGCCGTTC	0.557000														23			9		0	0	0.003330	0	0
EPHA6	285220	broad.mit.edu	37	3	96706498	96706498	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:96706498C>T	uc010how.1	+	2	818	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	EPHA6_uc003drp.1_Missense_Mutation_p.R259C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	164						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R165S(2)|p.R259S(1)		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						TTTGGGTGATCGCATCCTCAA	0.443000														140			69		0	0	0.003610	0	0
OR5T1	390155	broad.mit.edu	37	11	56043562	56043563	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56043562_56043563CC>TT	uc001nio.1	+	0	448_449	c.448_449CC>TT	c.(448-450)ccc>TTc	p.P150F		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GAGCATGTCACCCAGAGTCTAT	0.446000														125			54		0	0	0.004672	0	0
STK36	27148	broad.mit.edu	37	2	219561890	219561890	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:219561890C>T	uc002viu.3	+	22	2994	c.2715C>T	c.(2713-2715)tcC>tcT	p.S905S	STK36_uc002viv.3_Silent_p.S884S|STK36_uc002vix.3_5'UTR	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	905					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	p.S905S(2)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TTTCGCTATCCAGTCCACCAA	0.527000														91			25		0	0	0.003954	0	0
GJA8	2703	broad.mit.edu	37	1	147380418	147380418	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:147380418G>A	uc021ovm.1	+	0	336	c.336G>A	c.(334-336)gaG>gaA	p.E112E	GJA8_uc001epu.2_Silent_p.E112E	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	112					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCGAGGCGGAGGAGCTGGGCC	0.652000														38			23		0	0	0.001882	0	0
FBXO40	51725	broad.mit.edu	37	3	121341093	121341093	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:121341093C>T	uc003eeg.2	+	2	1027	c.817C>T	c.(817-819)Cag>Tag	p.Q273*		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	273					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		ACAGGAAAATCAGAAGCAGCA	0.493000														32			11		0	0	0.008291	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56766272	56766272	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:56766272C>T	uc003dih.2	-	11	1428	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K	ARHGEF3_uc011bew.1_Missense_Mutation_p.E408K|ARHGEF3_uc011bev.1_Missense_Mutation_p.E379K|ARHGEF3_uc003dif.2_Missense_Mutation_p.E414K|ARHGEF3_uc003dig.2_Missense_Mutation_p.E408K|ARHGEF3_uc010hmy.1_Missense_Mutation_p.E206K|ARHGEF3_uc003dii.2_Missense_Mutation_p.E408K	NM_001128615	NP_001122087	Q9NR81	ARHG3_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3 (ARHGEF3), transcript variant 1, mRNA.	408	PH.				Rho protein signal transduction|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		ATACTTCTCTCATTGTTGCTG	0.557000														41			4		0	0	0.009096	0	0
DNAH5	1767	broad.mit.edu	37	5	13719031	13719031	+	Silent	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:13719031A>T	uc003jfd.2	-	71	12501	c.12459T>A	c.(12457-12459)ccT>ccA	p.P4153P	DNAH5_uc003jfc.2_Silent_p.P321P	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4153	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P4153H(1)|p.P4153T(1)|p.P4153N(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)					GTCCTTGTGGAGGATCGTTGG	0.448000									Kartagener syndrome					38			23		0	0	0.003954	0	0
PRRC2B	84726	broad.mit.edu	37	9	134342990	134342990	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:134342990C>T	uc004can.4	+	11	1816	c.1761C>T	c.(1759-1761)ttC>ttT	p.F587F	PRRC2B_uc010mzj.1_Silent_p.F170F	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	587							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCACCACATTCCCAGAAGAGG	0.562000														4			7		0	0	0.003080	0	0
NLRP7	199713	broad.mit.edu	37	19	55451341	55451341	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55451341G>A	uc002qih.4	-	3	922	c.846C>T	c.(844-846)ctC>ctT	p.L282L	NLRP7_uc010esk.3_Silent_p.L282L|NLRP7_uc002qig.4_Silent_p.L282L|NLRP7_uc002qii.4_Silent_p.L282L|NLRP7_uc010esl.3_Silent_p.L310L	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	282	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AACTCCCCAGGAGGACGGGCA	0.632000														31			15		0	0	0.003163	0	0
WIZ	58525	broad.mit.edu	37	19	15536289	15536289	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15536289G>A	uc002nbc.3	-	4	1917	c.1894C>T	c.(1894-1896)Ccc>Tcc	p.P632S	WIZ_uc002nba.4_Missense_Mutation_p.P499S|WIZ_uc002nbb.4_Missense_Mutation_p.P458S	NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	1315						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CCAGCCAGGGGCGACAGCGGC	0.726000														5			3		0	0	0.004672	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092726	151092726	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:151092726T>A	uc022cgv.1	+	0	590	c.590T>A	c.(589-591)tTt>tAt	p.F197Y	MAGEA4_uc004fez.3_Missense_Mutation_p.F197Y|MAGEA4_uc004ffa.3_Missense_Mutation_p.F197Y|MAGEA4_uc004ffb.3_Missense_Mutation_p.F197Y|MAGEA4_uc022cgu.1_Missense_Mutation_p.F225Y|MAGEA4_uc004ffc.3_Missense_Mutation_p.F197Y|MAGEA4_uc004ffd.3_Missense_Mutation_p.F197Y	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	197	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AATCAGATCTTTCCCAAGACA	0.562000														50			12		0	0	0.000978	0	0
PARP8	79668	broad.mit.edu	37	5	50117146	50117146	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:50117146C>T	uc003jon.4	+	16	1950	c.1768C>T	c.(1768-1770)Cct>Tct	p.P590S	PARP8_uc011cpz.2_Missense_Mutation_p.P482S|PARP8_uc003joo.3_Missense_Mutation_p.P590S|PARP8_uc003jop.3_Intron	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	590						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TCCTAATGATCCTCAGATGTT	0.403000														31			6		0	0	0.003080	0	0
LCN12	286256	broad.mit.edu	37	9	139846814	139846814	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:139846814C>G	uc004ckc.3	+	0	43	c.35C>G	c.(34-36)tCc>tGc	p.S12C	LCN12_uc022bpx.1_Missense_Mutation_p.S12C|LCN12_uc004ckb.3_Missense_Mutation_p.S12C			Q6JVE5	LCN12_HUMAN	Homo sapiens lipocalin 12 (LCN12), mRNA.	12					lipid metabolic process	extracellular region	binding|transporter activity			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CTGTGGCTCTCCTTGCTGAAA	0.632000														16			6		0	0	0.001168	0	0
LAMA4	3910	broad.mit.edu	37	6	112496546	112496546	+	Silent	SNP	G	A	A	rs3752580		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:112496546G>A	uc003pvu.2	-	10	1635	c.1326C>T	c.(1324-1326)ctC>ctT	p.L442L	LAMA4_uc003pvv.2_Silent_p.L435L|LAMA4_uc003pvt.2_Silent_p.L435L	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	442	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCTCATCCACGAGCTCCCGTT	0.493000														70			30		0	0	0.009535	0	0
TTN	7273	broad.mit.edu	37	2	179579181	179579181	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179579181C>T	uc021vsy.1	-	87	22813	c.22588G>A	c.(22588-22590)Gga>Aga	p.G7530R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4191R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8457	Ig-like 57.						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)			ACGATTTCTCCCTTATCTTTG	0.408000														23			4		0	0	0.009096	0	0
IP6K3	117283	broad.mit.edu	37	6	33703100	33703100	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:33703100C>T	uc010jvf.2	-	2	690	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	IP6K3_uc003ofb.2_Missense_Mutation_p.E52K	NM_001142883	NP_473452	Q96PC2	IP6K3_HUMAN	Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA.	52					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						GGCAGGGATTCATAGAACCTC	0.632000														20			8		0	0	0.004482	0	0
SYCE1	93426	broad.mit.edu	37	10	135372435	135372435	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:135372435C>T	uc001lno.2	-	3	322	c.217G>A	c.(217-219)Gac>Aac	p.D73N	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_5'UTR|SYCE1_uc009ybn.2_Missense_Mutation_p.D73N|SYCE1_uc001lnn.2_Missense_Mutation_p.D37N	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA.	73					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TCTCCTAGGTCTTTATTGGCT	0.507000														17			4		0	0	0.009096	0	0
CUBN	8029	broad.mit.edu	37	10	16948208	16948208	+	Nonsense_Mutation	SNP	G	A	A	rs137998687	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:16948208G>A	uc001ioo.3	-	49	7958	c.7906C>T	c.(7906-7908)Cga>Tga	p.R2636*	CUBN_uc009xjq.1_Non-coding_Transcript|CUBN_uc009xjr.1_5'UTR	NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2636	CUB 19.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCACCCACTCGAAACTCGAGG	0.363000														11			6		0	0	0.001168	0	0
CAMK4	814	broad.mit.edu	37	5	110820078	110820078	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:110820078G>A	uc003kpf.3	+	10	1571	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	CAMK4_uc010jbv.3_Missense_Mutation_p.E249K|CAMK4_uc003kpg.3_Missense_Mutation_p.E137K	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	446					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GACTGTGGAGGAGGCAGCAGC	0.552000														23			5		0	0	0.000602	0	0
CCRL1	51554	broad.mit.edu	37	3	132319397	132319397	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:132319397C>T	uc003eow.3	+	1	239	c.156C>T	c.(154-156)ttC>ttT	p.F52F	NPHP3_uc003eov.4_Intron|NPHP3_uc011blr.1_Intron|CCRL1_uc003eox.3_Silent_p.F52F	NM_016557	NP_848540	Q9NPB9	CCRL1_HUMAN	Homo sapiens chemokine (C-C motif) receptor-like 1 (CCRL1), transcript variant 2, mRNA.	52					chemotaxis|immune response	integral to plasma membrane	C-C chemokine receptor activity			breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17						CAATAGTTTTCGTCATTGGAC	0.383000														24			6		0	0	0.001984	0	0
KIAA0556	23247	broad.mit.edu	37	16	27733009	27733009	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:27733009C>T	uc002dow.3	+	13	1760	c.1736C>T	c.(1735-1737)gCt>gTt	p.A579V	KIAA0556_uc002dox.1_Missense_Mutation_p.A487V	NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	579										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TACTGGACAGCTGATGGCGTA	0.502000														22			6		0	0	0.001984	0	0
MNDA	4332	broad.mit.edu	37	1	158815497	158815497	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158815497G>A	uc001fsz.1	+	4	891	c.691G>A	c.(691-693)Ggg>Agg	p.G231R		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	231	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.G231G(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CCCAGAAAATGGGAAAAGCAC	0.428000														25			19		0	0	0.007413	0	0
MITF	4286	broad.mit.edu	37	3	70014315	70014315	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:70014315C>T	uc003dnz.3	+	9	1642	c.1479C>T	c.(1477-1479)ctC>ctT	p.L493L	MITF_uc011bgb.2_Silent_p.L441L|MITF_uc003doa.3_Silent_p.L492L|MITF_uc003dob.3_Silent_p.L477L|MITF_uc021xam.1_Silent_p.L330L|MITF_uc003doe.3_Silent_p.L386L|MITF_uc003dof.3_Silent_p.L392L	NM_198159	NP_001171896	O75030	MITF_HUMAN	Homo sapiens microphthalmia-associated transcription factor (MITF), transcript variant 1, mRNA.	499					melanocyte differentiation|multicellular organismal development|protein complex assembly	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 binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTGATCCACTCCTTTCCTCAG	0.542000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""							32			18		0	0	0.008871	0	0
MYLK	4638	broad.mit.edu	37	3	123419455	123419455	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:123419455G>A	uc003ego.3	-	17	3142	c.2860C>T	c.(2860-2862)Cgc>Tgc	p.R954C	MYLK_uc011bjw.2_Missense_Mutation_p.R954C|MYLK_uc003egp.3_Missense_Mutation_p.R885C|MYLK_uc003egq.3_Missense_Mutation_p.R954C|MYLK_uc003egr.3_Missense_Mutation_p.R885C|MYLK_uc003egs.3_Missense_Mutation_p.R778C|MYLK_uc003egt.3_Missense_Mutation_p.R145C	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	954	5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive) (By similarity).|Calmodulin-binding (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGGACAGAGCGAAAATCGACC	0.597000														30			15		0	0	0.003163	0	0
NPAS4	266743	broad.mit.edu	37	11	66191885	66191885	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:66191885C>T	uc001ohx.1	+	6	1700	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	NPAS4_uc010rpc.1_Silent_p.F298F	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	508					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						CCTCCACCTTCCCAGACCAGC	0.582000														134			72		0	0	0.003610	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198498311	198498311	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:198498311C>T	uc009wzd.3	-	3	136	c.101_splice	c.e3-1	p.G34_splice	ATP6V1G3_uc001gup.3_Splice_Site_p.R28_splice|ATP6V1G3_uc001guo.3_Splice_Site_p.W43_splice	NM_133262	NP_573569	Q96LB4	VATG3_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 (ATP6V1G3), transcript variant 1, mRNA.	28					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						CTTTCCTTTTCCTGAAAATTA	0.254000														52			17		0	0	0.004007	0	0
ATP13A5	344905	broad.mit.edu	37	3	193036815	193036815	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:193036815C>T	uc011bsq.2	-	16	1998	c.1998G>A	c.(1996-1998)aaG>aaA	p.K666K		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	666					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GATTCCCCATCTTTAAGGTTT	0.498000														89			29		0	0	0.002096	0	0
EPHA6	285220	broad.mit.edu	37	3	96706415	96706415	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:96706415G>A	uc010how.1	+	2	735	c.692G>A	c.(691-693)gGa>gAa	p.G231E	EPHA6_uc003drp.1_Missense_Mutation_p.G231E	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	136						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						GAGTCCCACGGAATTAAATTC	0.403000														130			33		0	0	0.002836	0	0
LGSN	51557	broad.mit.edu	37	6	63995607	63995607	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:63995607C>T	uc003peh.3	-	2	249	c.215G>A	c.(214-216)aGa>aAa	p.R72K	LGSN_uc003pei.3_Missense_Mutation_p.R72K|LGSN_uc003pej.1_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	72					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.S71S(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GTGTTTCATTCTAGAAGAGAG	0.438000														29			14		0	0	0.003163	0	0
SPATC1	375686	broad.mit.edu	37	8	145095983	145095983	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:145095983C>T	uc011lkw.2	+	2	1383	c.1281C>T	c.(1279-1281)acC>acT	p.T427T	SPATC1_uc011lkx.2_Silent_p.T427T	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	427										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCGCAAGACCAGCAAGTTCC	0.672000														25			9		0	0	0.008291	0	0
THPO	7066	broad.mit.edu	37	3	184090693	184090693	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:184090693C>T	uc003fol.1	-	5	885	c.670G>A	c.(670-672)Gga>Aga	p.G224R	THPO_uc003fom.2_Missense_Mutation_p.G220R|THPO_uc021xii.1_Missense_Mutation_p.G218E|THPO_uc003fon.3_Missense_Mutation_p.G185E|THPO_uc011bro.2_Missense_Mutation_p.G181E|THPO_uc003fop.3_Missense_Mutation_p.G181E|THPO_uc011brp.2_Intron|THPO_uc011brq.2_Intron|THPO_uc003for.1_Non-coding_Transcript|THPO_uc003fos.1_Non-coding_Transcript	NM_000460	NP_000451	P40225	TPO_HUMAN	Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.	224					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTCTGAATCCCTGCTGCCAC	0.522000														36			7		0	0	0.003080	0	0
MARC2	54996	broad.mit.edu	37	1	220935159	220935159	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:220935159C>T	uc001hmq.3	+	2	804	c.606C>T	c.(604-606)ttC>ttT	p.F202F	MARC2_uc001hmr.3_Silent_p.F202F|MARC2_uc009xdx.3_Silent_p.F202F	NM_017898	NP_060368	Q969Z3	MOSC2_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 2 (MARC2), nuclear gene encoding mitochondrial protein, mRNA.	202	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	p.F202F(1)									ATCAGAATTTCCAGGTGAGCT	0.428000														62			16		0	0	0.004990	0	0
LIF	3976	broad.mit.edu	37	22	30640036	30640036	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:30640036C>T	uc003agz.2	-	2	325	c.213G>A	c.(211-213)ggG>ggA	p.G71G	LIF_uc011aks.1_Missense_Mutation_p.G12R|MGC20647_uc003aha.3_5'Flank	NM_002309	NP_002300	P15018	LIF_HUMAN	Homo sapiens leukemia inhibitory factor (cholinergic differentiation factor) (LIF), mRNA.	71					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			GGAACGGCTCCCCCTGggctg	0.647000														17			13		0	0	0.003163	0	0
MAP3K9	4293	broad.mit.edu	37	14	71206780	71206780	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:71206780G>A	uc001xmm.3	-	6	1669	c.1669C>T	c.(1669-1671)Cct>Tct	p.P557S	MAP3K9_uc010ttk.2_Missense_Mutation_p.P294S|MAP3K9_uc001xmk.3_Missense_Mutation_p.P251S|MAP3K9_uc001xml.3_Missense_Mutation_p.P557S	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	557					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CGAAGGCGAGGAATGATGGTG	0.567000														32			24		0	0	0.002780	0	0
CCDC60	160777	broad.mit.edu	37	12	119943007	119943007	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:119943007C>T	uc001txe.3	+	6	1247	c.782C>T	c.(781-783)tCg>tTg	p.S261L	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	261								p.S261S(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AACCCTGGCTCGGATGAGCCC	0.567000														86			44		0	0	0.003610	0	0
DOCK11	139818	broad.mit.edu	37	X	117718740	117718740	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:117718740G>A	uc004eqp.2	+	14	1701	c.1638G>A	c.(1636-1638)ggG>ggA	p.G546G	DOCK11_uc004eqq.2_Silent_p.G312G	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	546					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ATCTGGATGGGAGATTTTCTC	0.338000														15			33		0	0	0.002836	0	0
SCAND3	114821	broad.mit.edu	37	6	28547088	28547088	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:28547088C>T	uc003nlo.3	-	1	1147	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	177					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GATTCACATTCCATTCTATCT	0.428000														88			40		0	0	0.006230	0	0
OR2D2	120776	broad.mit.edu	37	11	6912927	6912927	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:6912927C>T	uc010rau.2	-	0	805	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACCGATTTTTCCTGCTGTTTG	0.438000														31			13		0	0	0.001855	0	0
FLG2	388698	broad.mit.edu	37	1	152324960	152324960	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152324960C>T	uc001ezw.4	-	2	5375	c.5302G>A	c.(5302-5304)Gga>Aga	p.G1768R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1768							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTATAGTTCCATGTCTCTCA	0.502000														105			48		0	0	0.003610	0	0
SAGE1	55511	broad.mit.edu	37	X	134990652	134990652	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:134990652C>T	uc004ezh.3	+	11	1484	c.1317C>T	c.(1315-1317)caC>caT	p.H439H	SAGE1_uc010nry.1_Silent_p.H408H|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	439										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCGTCAATCACCATGTCCATG	0.418000														16			36		0	0	0.004289	0	0
HYDIN	54768	broad.mit.edu	37	16	71127722	71127722	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:71127722C>T	uc002ezr.3	-	10	1595	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	HYDIN_uc010cfz.2_Missense_Mutation_p.E227K|HYDIN_uc021tkq.1_Missense_Mutation_p.E482K|HYDIN_uc010vmc.2_Missense_Mutation_p.E499K|HYDIN_uc010vmd.2_Missense_Mutation_p.E509K|HYDIN_uc002ezw.4_Missense_Mutation_p.E499K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	482										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)				GTGCTTACCTCATAACAATGT	0.388000														22			6		0	0	0.001984	0	0
FAM49A	81553	broad.mit.edu	37	2	16742799	16742799	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:16742799C>T	uc010exm.2	-	5	586	c.438G>A	c.(436-438)atG>atA	p.M146I	FAM49A_uc002rck.2_Missense_Mutation_p.M146I	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	146						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CCGGGTTCCTCATCTGAAATT	0.468000														21			11		0	0	0.001368	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325895	79325895	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:79325895G>A	uc010mpk.3	-	7	1419	c.1295C>T	c.(1294-1296)aCc>aTc	p.T432I	PRUNE2_uc022bih.1_Missense_Mutation_p.T254I	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	432					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCTCCTAATGGTAGCCAGTCC	0.547000														24			4		0	0	0.000602	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324206	61324206	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:61324206G>A	uc002lji.3	-	6	771	c.627C>T	c.(625-627)tcC>tcT	p.S209S	SERPINB3_uc002ljg.3_Silent_p.S209S|SERPINB3_uc010dqa.3_Intron	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	209					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TCATCTGTATGGACTTGTATG	0.373000														18			7		0	0	0.003080	0	0
CD6	923	broad.mit.edu	37	11	60777153	60777153	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:60777153G>A	uc001nqq.3	+	4	1116	c.891G>A	c.(889-891)tcG>tcA	p.S297S	CD6_uc009yni.3_Intron|CD6_uc009ynj.3_Intron|CD6_uc001nqp.3_Silent_p.S297S|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Silent_p.S297S|CD6_uc001nqt.3_Silent_p.S297S	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	297	SRCR 3.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GGTACCCATCGGAGGCCAAGG	0.637000														36			15		0	0	0.002450	0	0
CD1E	913	broad.mit.edu	37	1	158325885	158325885	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158325885C>T	uc001fse.3	+	3	1187	c.894C>T	c.(892-894)atC>atT	p.I298I	CD1E_uc010pid.2_Silent_p.I296I|CD1E_uc010pie.2_Silent_p.I199I|CD1E_uc001fsh.3_Silent_p.I109I|CD1E_uc001fry.3_Intron|CD1E_uc001fsf.3_Silent_p.I298I|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Silent_p.I199I|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Silent_p.I208I|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Intron|CD1E_uc001frz.3_Silent_p.I208I|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Silent_p.I109I|CD1E_uc021pbm.1_Intron|CD1E_uc009wsw.3_Silent_p.I56I	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	298	Ig-like.				antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					ATGATCTAATCATCCATTGGG	0.547000														53			11		0	0	0.000978	0	0
SLC37A2	219855	broad.mit.edu	37	11	124951352	124951352	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:124951352C>T	uc010sau.2	+	7	981	c.730C>T	c.(730-732)Cac>Tac	p.H244Y	SLC37A2_uc001qbn.3_Missense_Mutation_p.H244Y|SLC37A2_uc010sav.1_5'Flank|SLC37A2_uc001qbp.3_5'Flank	NM_198277	NP_938018	Q8TED4	SPX2_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 2 (SLC37A2), transcript variant 1, mRNA.	244					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TCCTCAGCACCACGTGAGTGT	0.602000														16			20		0	0	0.002780	0	0
DNAH9	1770	broad.mit.edu	37	17	11809055	11809055	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:11809055C>T	uc002gne.3	+	60	11746	c.11678C>T	c.(11677-11679)tCg>tTg	p.S3893L	DNAH9_uc010coo.3_Missense_Mutation_p.S3187L|DNAH9_uc002gnf.3_Missense_Mutation_p.S205L|DNAH9_uc010vvh.1_Missense_Mutation_p.S246L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3893	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTGAAGAATCGGGACCAGCC	0.468000														15			17		0	0	0.004990	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584494	138584494	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:138584494C>T	uc003qhu.3	+	11	2045	c.1874C>T	c.(1873-1875)tCc>tTc	p.S625F		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	625	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCGGGCAGGTCCGACGTGTCA	0.547000														104			49		0	0	0.003610	0	0
GLIS3	169792	broad.mit.edu	37	9	4118600	4118600	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:4118600G>A	uc003zhx.1	-	3	1591	c.878C>T	c.(877-879)tCc>tTc	p.S293F	GLIS3_uc003zic.1_Missense_Mutation_p.S293F|GLIS3_uc003zie.1_Missense_Mutation_p.S293F|GLIS3_uc010mhh.1_Missense_Mutation_p.S168F|GLIS3_uc003zid.1_Missense_Mutation_p.S71F|GLIS3_uc010mhi.1_Missense_Mutation_p.S100F|GLIS3_uc003zif.1_Missense_Mutation_p.S71F|GLIS3_uc003zih.1_Missense_Mutation_p.S71F|GLIS3_uc003zig.1_Missense_Mutation_p.S137F|GLIS3_uc003zhw.1_Missense_Mutation_p.S138F|GLIS3_uc003zhy.1_Missense_Mutation_p.S71F|GLIS3_uc003zhz.1_Missense_Mutation_p.S71F|GLIS3_uc003zib.1_Missense_Mutation_p.S137F|GLIS3_uc010mhg.1_Missense_Mutation_p.S71F	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	138	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GGCCGAGTGGGACCTGGTGGA	0.552000														91			11		0	0	0.000978	0	0
EPHA6	285220	broad.mit.edu	37	3	96706372	96706372	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:96706372G>A	uc010how.1	+	2	692	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	EPHA6_uc003drp.1_Missense_Mutation_p.E217K	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	122						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						GACTTGCAAAGAAACATTTAA	0.398000														74			23		0	0	0.002299	0	0
PCLO	27445	broad.mit.edu	37	7	82595680	82595680	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82595680C>T	uc003uhx.2	-	3	3713	c.3424G>A	c.(3424-3426)Gaa>Aaa	p.E1142K	PCLO_uc003uhv.2_Missense_Mutation_p.E1142K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1081					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						GATGATGATTCTGTAGGAACA	0.433000														43			33		0	0	0.002445	0	0
DIAPH1	1729	broad.mit.edu	37	5	140908358	140908359	+	Silent	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140908358_140908359GG>AA	uc003llb.4	-	21	3069_3070	c.2928_2929CC>TT	c.(2926-2931)ctccta>ctTTta	p.976_977LL>LL	DIAPH1_uc011dbd.2_5'Flank|DIAPH1_uc003llc.4_Silent_p.967_968LL>LL|DIAPH1_uc021yep.1_Silent_p.976_977LL>LL|DIAPH1_uc021yeq.1_Silent_p.967_968LL>LL|DIAPH1_uc010jgc.1_Silent_p.412_413LL>LL	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	976	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAATCTCTAGGAGATTGGAAA	0.446000														32			18		0	0	0.004672	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795459	142795459	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:142795459G>A	uc004fbz.3	-	1	973	c.219C>T	c.(217-219)tcC>tcT	p.S73S		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	73										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGTTCTCTCGGGACTGGTCCT	0.433000														49			85		0	0	0.003610	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712964	70712964	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:70712964C>T	uc010ttg.2	-	0	1555	c.904G>A	c.(904-906)Gac>Aac	p.D302N						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		TCTGGAAGGTCACATTCATTG	0.483000														20			18		0	0	0.004990	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40259715	40259715	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:40259715C>T	uc001zkm.1	+	8	1238	c.1188C>T	c.(1186-1188)ccC>ccT	p.P396P	EIF2AK4_uc001zkl.3_Silent_p.P396P|EIF2AK4_uc010bbj.1_Silent_p.P125P	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	396	Protein kinase 1.				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ACTCAGGCCCCATCCCTGTGC	0.517000														32			6		0	0	0.001168	0	0
C15orf54	400360	broad.mit.edu	37	15	39544671	39544671	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:39544671T>A	uc001zkg.2	+	1	703	c.335T>A	c.(334-336)aTt>aAt	p.I112N	C15orf54_uc021sjb.1_Missense_Mutation_p.I112N	NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	Homo sapiens chromosome 15 open reading frame 54 (C15orf54), mRNA.	112										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		AACCCAGTGATTTCCAGCGGA	0.418000														46			14		0	0	0.001855	0	0
ZNF559	84527	broad.mit.edu	37	19	9453397	9453397	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9453397C>T	uc002mle.4	+	5	1869	c.1462C>T	c.(1462-1464)Ctt>Ttt	p.L488F	ZNF559_uc002mld.3_3'UTR|ZNF559_uc021uoj.1_Missense_Mutation_p.L382F|ZNF559_uc010xkn.2_Missense_Mutation_p.L416F|ZNF559_uc021uok.1_Missense_Mutation_p.L424F|ZNF559_uc021uol.1_3'UTR|ZNF559_uc010dwk.2_3'UTR|ZNF559_uc002mlf.3_3'UTR|ZNF559_uc010dwl.2_3'UTR|ZNF559_uc021uom.1_3'UTR|ZNF177_uc002mli.3_Intron|ZNF177_uc002mlj.3_Intron	NM_001202406	NP_001189335	Q9BR84	ZN559_HUMAN	Homo sapiens zinc finger protein 559 (ZNF559), transcript variant 1, mRNA.	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ATCCTCATTTCTTATTCGACA	0.408000														36			7		0	0	0.003080	0	0
FILIP1	27145	broad.mit.edu	37	6	76022532	76022532	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:76022532G>A	uc010kbe.3	-	5	3555	c.3025C>T	c.(3025-3027)Cct>Tct	p.P1009S	FILIP1_uc003phy.1_Missense_Mutation_p.P1006S|FILIP1_uc003phz.3_Missense_Mutation_p.P907S|FILIP1_uc003pia.3_Missense_Mutation_p.P1006S|FILIP1_uc003pib.1_Missense_Mutation_p.P758S	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	1006										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						ATCTGAATAGGGGATGTGGGC	0.507000														67			27		0	0	0.007291	0	0
OR2B2	81697	broad.mit.edu	37	6	27879581	27879581	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:27879581C>T	uc011dkw.2	-	0	594	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						TGATCCACTTCTTTGTGACCA	0.463000														43			33		0	0	0.002445	0	0
KANK4	163782	broad.mit.edu	37	1	62739545	62739545	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:62739545C>T	uc001dah.4	-	2	1608	c.1231G>A	c.(1231-1233)Gac>Aac	p.D411N	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	411								p.T410T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ACCATCACGTCCGTCTGGCCC	0.517000														114			33		0	0	0.002445	0	0
C3orf22	152065	broad.mit.edu	37	3	126270914	126270914	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:126270914G>A	uc003ejb.3	-	2	470	c.141C>T	c.(139-141)gtC>gtT	p.V47V		NM_152533	NP_689746	Q8N5N4	CC022_HUMAN	Homo sapiens chromosome 3 open reading frame 22 (C3orf22), mRNA.	47										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		AGTCGTTTGTGACCTCCCAGG	0.617000														44			16		0	0	0.004007	0	0
GALNT13	114805	broad.mit.edu	37	2	155099242	155099242	+	Silent	SNP	G	A	A	rs142707218		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:155099242G>A	uc002tyt.4	+	3	614	c.510G>A	c.(508-510)gtG>gtA	p.V170V	GALNT13_uc002tyr.4_Silent_p.V170V|GALNT13_uc010foc.1_5'UTR	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	170	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.Y169Y(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AGAATTACGTGAAAAATTTAG	0.353000														15			8		0	0	0.006214	0	0
TCTN3	26123	broad.mit.edu	37	10	97423933	97423933	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:97423933G>A	uc001klb.4	-	13	1959	c.1715C>T	c.(1714-1716)cCc>cTc	p.P572L	TCTN3_uc010qoi.2_Missense_Mutation_p.P424L	NM_015631	NP_056446	Q6NUS6	TECT3_HUMAN	Homo sapiens tectonic family member 3 (TCTN3), transcript variant 1, mRNA.	572					apoptosis	integral to membrane				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		CACTTTGAAGGGAAAGAAGTC	0.468000														153			52		0	0	0.003610	0	0
FAM155B	27112	broad.mit.edu	37	X	68749608	68749608	+	Missense_Mutation	SNP	C	T	T	rs138872063		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:68749608C>T	uc004dxk.3	+	2	1276	c.1228C>T	c.(1228-1230)Cgt>Tgt	p.R410C		NM_015686	NP_056501	O75949	F155B_HUMAN	Homo sapiens family with sequence similarity 155, member B (FAM155B), mRNA.	411						integral to membrane		p.R410C(2)|p.R410H(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						TCCCCCAGGCCGTGTCAGCAA	0.607000														7			15		0	0	0.002450	0	0
CLTCL1	8218	broad.mit.edu	37	22	19197878	19197878	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:19197878G>A	uc021wle.1	-	19	3282	c.3207C>T	c.(3205-3207)ttC>ttT	p.F1069F	CLTCL1_uc021wld.1_Silent_p.F1069F|CLTCL1_uc021wlc.1_Silent_p.F1069F|CLTCL1_uc021wlf.1_Silent_p.F1069F|CLTCL1_uc011agw.1_Silent_p.F1069F|CLTCL1_uc011agt.2_5'Flank|CLTCL1_uc011agu.2_5'Flank|CLTCL1_uc010grm.1_5'Flank|CLTCL1_uc002zpd.1_Silent_p.F29F|CLTCL1_uc002zpe.2_Silent_p.F29F	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	1069	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GGAAAACGGTGAAGGCCTCCT	0.552000			T	?	ALCL									56			21		0	0	0.003954	0	0
P2RY1	5028	broad.mit.edu	37	3	152553639	152553639	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:152553639C>T	uc003ezq.3	+	0	904	c.68C>T	c.(67-69)tCg>tTg	p.S23L		NM_002563	NP_002554	P47900	P2RY1_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 1 (P2RY1), mRNA.	23					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GGTCCGGGTTCGTCCTGGGGG	0.657000														35			11		0	0	0.008291	0	0
FAM120B	84498	broad.mit.edu	37	6	170700139	170700139	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:170700139C>T	uc003qxp.3	+	7	2637	c.2529C>T	c.(2527-2529)gtC>gtT	p.V843V	FAM120B_uc003qxo.1_Silent_p.V843V|FAM120B_uc011ehd.2_Silent_p.V175V	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	Homo sapiens family with sequence similarity 120B (FAM120B), mRNA.	843					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TGAAGGCAGTCGTCTGCAAGG	0.572000														26			6		0	0	0.003080	0	0
MME	4311	broad.mit.edu	37	3	154856008	154856008	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:154856008G>A	uc010hvr.1	+	8	1049	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	MME_uc003fab.1_Missense_Mutation_p.E280K|MME_uc003fac.1_Missense_Mutation_p.E280K|MME_uc003fad.1_Missense_Mutation_p.E280K|MME_uc003fae.1_Missense_Mutation_p.E280K	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	280					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TATGGAATTGGAAAAAGAAAT	0.338000														49			21		0	0	0.002780	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166621	180166621	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:180166621G>A	uc003mmf.1	-	0	438	c.438C>T	c.(436-438)atC>atT	p.I146I		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCAGGAGGCGATAGCCAGGG	0.572000														15			7		0	0	0.004482	0	0
FBXO40	51725	broad.mit.edu	37	3	121341815	121341815	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:121341815C>T	uc003eeg.2	+	2	1749	c.1539C>T	c.(1537-1539)ctC>ctT	p.L513L		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	513					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		GATGCCCCCTCGCCTACTTGG	0.483000														31			12		0	0	0.001855	0	0
CYP2D6	1565	broad.mit.edu	37	22	42525765	42525765	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:42525765G>A	uc003bce.3	-	1	417	c.327C>T	c.(325-327)atC>atT	p.I109I	LOC100132273_uc003bcd.1_Intron|CYP2D6_uc010gyu.3_5'UTR|CYP2D6_uc003bcf.3_Silent_p.I109I	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6), transcript variant 1, mRNA.	109							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CGAAACCCAGGATCTGGGTGA	0.697000														21			14		0	0	0.002450	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526089	176526089	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:176526089G>A	uc001gkz.3	+	1	1795	c.631G>A	c.(631-633)Gga>Aga	p.G211R	PAPPA2_uc001gky.1_Missense_Mutation_p.G211R|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	211					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.G211R(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGATGGGCAGGGAGACTCCGG	0.562000														57			24		0	0	0.002299	0	0
SLC38A1	81539	broad.mit.edu	37	12	46622947	46622947	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:46622947G>A	uc009zkj.1	-	4	988	c.303C>T	c.(301-303)atC>atT	p.I101I	SLC38A1_uc001rpb.3_Silent_p.I101I|SLC38A1_uc001rpc.3_Silent_p.I101I|SLC38A1_uc001rpd.3_Silent_p.I101I|SLC38A1_uc001rpe.3_Silent_p.I101I|SLC38A1_uc010slh.2_Silent_p.I74I|SLC38A1_uc001rpa.3_Silent_p.I101I	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	101					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			GAAAAAGTAGGATTCCAGTGT	0.393000														6			7		0	0	0.003080	0	0
CDK18	5129	broad.mit.edu	37	1	205499779	205499779	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:205499779G>A	uc001hcr.3	+	14	1688	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K	CDK18_uc001hcp.3_Missense_Mutation_p.E446K|CDK18_uc001hcq.3_Missense_Mutation_p.E446K|CDK18_uc010prj.2_Missense_Mutation_p.E357K|CDK18_uc001hcs.3_Missense_Mutation_p.E357K	NM_212503	NP_997668	Q07002	CDK18_HUMAN	Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA.	444							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CTCCCTGAAGGAGATCCAGCT	0.612000														14			13		0	0	0.003163	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41621034	41621034	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:41621034C>T	uc003azo.3	+	10	1369	c.1315C>T	c.(1315-1317)Ccc>Tcc	p.P439S	L3MBTL2_uc010gyi.1_Missense_Mutation_p.P348S|L3MBTL2_uc003azn.3_Non-coding_Transcript	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	Homo sapiens l(3)mbt-like 2 (Drosophila) (L3MBTL2), mRNA.	439					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGCCATTGACCCCCTGAATCT	0.597000														66			20		0	0	0.002780	0	0
ARNT2	9915	broad.mit.edu	37	15	80855474	80855474	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:80855474C>T	uc002bfr.3	+	11	1376	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	ARNT2_uc010unm.2_Missense_Mutation_p.R393C|ARNT2_uc002bfs.3_Missense_Mutation_p.R393C	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA.	404	PAC.				central nervous system development|in utero embryonic development|response to hypoxia		DNA binding|aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.R404C(2)|p.R404H(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GTATCGATTTCGCACCAAGAA	0.493000														141			49		0	0	0.003610	0	0
ANK3	288	broad.mit.edu	37	10	61831953	61831953	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:61831953C>T	uc001jky.3	-	36	9024	c.8686G>A	c.(8686-8688)Gaa>Aaa	p.E2896K	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2896					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GACATAAATTCATTCTTTTGA	0.353000														36			9		0	0	0.004482	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222568	140222568	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140222568C>T	uc003lhs.2	+	0	1662	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.F554F	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	568	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTGTTCGTGCTGGACG	0.701000														44			17		0	0	0.006122	0	0
OR7G1	125962	broad.mit.edu	37	19	9225996	9225996	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9225996G>A	uc021uoi.1	-	0	444	c.444C>T	c.(442-444)tcC>tcT	p.S148S	OR7G1_uc002mks.1_Silent_p.S148S	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L147V(1)|p.L147L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						TCATGAACATGGAGAGAAGAA	0.488000														55			22		0	0	0.003954	0	0
SCN10A	6336	broad.mit.edu	37	3	38760147	38760147	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38760147C>T	uc003ciq.3	-	19	3678	c.3678G>A	c.(3676-3678)gtG>gtA	p.V1226V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1226					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)	CACTCACATTCACAATGAGGA	0.532000														30			15		0	0	0.004990	0	0
MAPK10	5602	broad.mit.edu	37	4	87019692	87019693	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:87019692_87019693AG>GA	uc003hps.3	-	8	1472_1473	c.786_787CT>TC	c.(784-789)ctcttt>ctTCtt	p.F263L	MAPK10_uc010ikg.3_Missense_Mutation_p.F225L|MAPK10_uc003hpr.3_Missense_Mutation_p.F225L|MAPK10_uc003hpt.3_Missense_Mutation_p.F263L|MAPK10_uc003hpu.3_Intron|MAPK10_uc003hpv.3_Intron|MAPK10_uc003hpn.3_Missense_Mutation_p.F11L|MAPK10_uc011ccw.2_Intron|MAPK10_uc003hpo.3_Missense_Mutation_p.F118L|MAPK10_uc003hpp.3_Missense_Mutation_p.F118L	NM_138982	NP_620446	P53779	MK10_HUMAN	Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.	263	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CTTCCTGGAAAGAGGATTTTGT	0.416000														27			34		0	0	0.004672	0	0
OR2T8	343172	broad.mit.edu	37	1	248084830	248084830	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248084830G>A	uc010pzc.2	+	0	511	c.511G>A	c.(511-513)Gag>Aag	p.E171K		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CGGTGCACACGAGATCGATCA	0.557000														27			4		0	0	0.004482	0	0
OR1F1	4992	broad.mit.edu	37	16	3255033	3255033	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:3255033C>T	uc010uwu.2	+	0	787	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						TTTTAACCCTCTGTCCTCCCA	0.483000														101			53		0	0	0.003610	0	0
IMPA2	3613	broad.mit.edu	37	18	12012207	12012207	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:12012207G>A	uc002kqp.2	+	3	616	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	IMPA2_uc010dlb.2_Missense_Mutation_p.R109Q|IMPA2_uc021uhq.1_5'UTR	NM_014214	NP_055029	O14732	IMPA2_HUMAN	Homo sapiens inositol(myo)-1(or 4)-monophosphatase 2 (IMPA2), mRNA.	125					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	TTTGCTGTTCGACAAGAGGTG	0.582000														136			30		0	0	0.004289	0	0
TLL1	7092	broad.mit.edu	37	4	166935613	166935613	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:166935613C>T	uc003irh.2	+	7	1590	c.943C>T	c.(943-945)Ccc>Tcc	p.P315S	TLL1_uc021xud.1_Missense_Mutation_p.P315S|TLL1_uc011cjn.2_Missense_Mutation_p.P315S|TLL1_uc011cjo.2_Missense_Mutation_p.P139S	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	315	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.L314L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TACCATTCTCCCCTCCCGTGA	0.438000														79			59		0	0	0.003610	0	0
ABCD2	225	broad.mit.edu	37	12	39994425	39994425	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:39994425C>T	uc001rmb.2	-	5	2020	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	532	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AGGACTCCTTCATACACAGGC	0.373000														58			34		0	0	0.003271	0	0
NEB	4703	broad.mit.edu	37	2	152381753	152381753	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:152381753C>T	uc021vrb.1	-	121	17122	c.17093G>A	c.(17092-17094)gGa>gAa	p.G5698E	NEB_uc002txr.3_Missense_Mutation_p.G2164E|NEB_uc002txu.3_Missense_Mutation_p.G7399E|NEB_uc021vrc.1_Missense_Mutation_p.G7399E|NEB_uc010fnx.3_Missense_Mutation_p.G5686E|NEB_uc021vrd.1_Missense_Mutation_p.G5698E|NEB_uc002txt.4_Missense_Mutation_p.G203E	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5698					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)		GTTGGATTTTCCTTTCTCCTT	0.403000														47			28		0	0	0.009535	0	0
MYH13	8735	broad.mit.edu	37	17	10258308	10258308	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10258308G>A	uc002gmk.1	-	9	895	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	269	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTTTCTAACAGATCTAAGGTA	0.368000														9			14		0	0	0.004990	0	0
C2orf89	129293	broad.mit.edu	37	2	85097394	85097394	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:85097394C>T	uc010ysl.2	-	1	713	c.624G>A	c.(622-624)aaG>aaA	p.K208K	C2orf89_uc002sou.4_Silent_p.K208K|C2orf89_uc010fgc.2_Silent_p.K208K	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	208						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						GCTCTTCCACCTTTTCCACTG	0.488000														146			40		0	0	0.003610	0	0
ZNF99	7652	broad.mit.edu	37	19	22940532	22940532	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:22940532G>A	uc021urt.1	-	3	2334	c.2179C>T	c.(2179-2181)Cat>Tat	p.H727Y		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTCCAGTATGAATTATCTCA	0.358000														15			6		0	0	0.003080	0	0
MICALCL	84953	broad.mit.edu	37	11	12315394	12315394	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:12315394G>A	uc001mkg.1	+	2	707	c.416G>A	c.(415-417)aGg>aAg	p.R139K		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	139					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GGGAAGGACAGGAGCTGGACA	0.592000														14			13		0	0	0.001368	0	0
GRM5	2915	broad.mit.edu	37	11	88780397	88780397	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:88780397G>A	uc001pcq.3	-	0	844	c.644C>T	c.(643-645)tCa>tTa	p.S215L	GRM5_uc009yvm.3_Missense_Mutation_p.S215L|GRM5_uc009yvn.2_Missense_Mutation_p.S215L	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	215					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GTGCACGGCTGATACATAGGT	0.418000														44			26		0	0	0.009535	0	0
CATSPERB	79820	broad.mit.edu	37	14	92136311	92136311	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:92136311C>T	uc001xzs.1	-	13	1274	c.1134G>A	c.(1132-1134)agG>agA	p.R378R	CATSPERB_uc010aub.1_5'UTR	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	378					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TGGCAGTTTTCCTGACCTAGG	0.363000														36			26		0	0	0.005443	0	0
TFDP1	7027	broad.mit.edu	37	13	114288335	114288335	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:114288335G>T	uc001vtw.3	+	6	817	c.605G>T	c.(604-606)tGt>tTt	p.C202F	TFDP1_uc010tkd.2_Missense_Mutation_p.C107F|TFDP1_uc010tke.2_Missense_Mutation_p.C107F|TFDP1_uc001vty.4_Missense_Mutation_p.C202F|TFDP1_uc010agx.3_Missense_Mutation_p.C202F	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	Homo sapiens transcription factor Dp-1 (TFDP1), transcript variant 1, mRNA.	202					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|cell proliferation|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GCTCAGGAATGTCAGAACTTA	0.498000										TSP Lung(29;0.18)				40			10		0.000673444	0.000735066	0.008291	1	0
SLC5A11	115584	broad.mit.edu	37	16	24873970	24873971	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:24873970_24873971GG>AA	uc002dmu.3	+	2	415_416	c.184_185GG>AA	c.(184-186)gga>AAa	p.G62K	SLC5A11_uc002dms.3_5'UTR|SLC5A11_uc010vcd.2_Missense_Mutation_p.G62K|SLC5A11_uc002dmt.3_5'UTR|SLC5A11_uc010vce.2_Missense_Mutation_p.G62K|SLC5A11_uc010bxt.3_5'UTR	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	62					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTTCCTGGCTGGAGGGGACATG	0.460000														31			13		0	0	0.004672	0	0
ZNF287	57336	broad.mit.edu	37	17	16466462	16466462	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:16466462G>A	uc021trd.1	-	4	1331	c.713C>T	c.(712-714)cCa>cTa	p.P238L	ZNF287_uc002gqi.2_Missense_Mutation_p.P238L	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	231					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TTTCTCACCTGGACTAGGGCC	0.378000														21			24		0	0	0.004656	0	0
ZNF319	57567	broad.mit.edu	37	16	58031774	58031774	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:58031774G>A	uc002emx.1	-	1	1019	c.396C>T	c.(394-396)ttC>ttT	p.F132F	ZNF319_uc021tjd.1_Silent_p.F132F	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	Homo sapiens zinc finger protein 319 (ZNF319), mRNA.	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CCCCACAGACGAAGGGCTTCT	0.572000														41			17		0	0	0.006122	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144886274	144886274	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:144886274G>A	uc021ouh.1	-	22	3262	c.2960C>T	c.(2959-2961)tCt>tTt	p.S987F	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.S987F|PDE4DIP_uc001elx.4_Missense_Mutation_p.S1053F|PDE4DIP_uc001elv.4_5'UTR	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	987					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.S987C(3)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGGGGAAAAAGATGGGTTCTG	0.478000			T	PDGFRB	MPD									285			64		0	0	0.003610	0	0
NFKBIA	4792	broad.mit.edu	37	14	35872485	35872485	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:35872485G>A	uc001wtf.4	-	2	528	c.418C>T	c.(418-420)Cga>Tga	p.R140*		NM_020529	NP_065390	P25963	IKBA_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha (NFKBIA), mRNA.	140					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of NF-kappaB transcription factor activity|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of transcription from RNA polymerase II promoter|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	I-kappaB/NF-kappaB complex|cytosol|nucleus|plasma membrane	NF-kappaB binding|identical protein binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		CGAAAGTCTCGGAGCTCAGGA	0.587000														67			13		0	0	0.003163	0	0
OR4K14	122740	broad.mit.edu	37	14	20483095	20483095	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20483095G>A	uc010tky.2	-	0	258	c.258C>T	c.(256-258)ttC>ttT	p.F86F		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GATCACTAAGGAAATCCCTGA	0.507000														24			6		0	0	0.001984	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136533592	136533592	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:136533592C>T	uc003yuv.3	+	1	595	c.201C>T	c.(199-201)ttC>ttT	p.F67F	KHDRBS3_uc003yuw.3_Silent_p.F67F	NM_006558	NP_006549	O75525	KHDR3_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 3 (KHDRBS3), mRNA.	67	KH.				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)			TAAAACAGTTCCCTAAGGTAA	0.373000														18			9		0	0	0.006214	0	0
TEKT4	150483	broad.mit.edu	37	2	95541342	95541342	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:95541342G>A	uc002stw.1	+	4	1039	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	LOC442028_uc021vlc.1_Intron|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	316					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GACACTGCGGGAAATCACAGA	0.607000														22			18		0	0	0.007413	0	0
CENPT	80152	broad.mit.edu	37	16	67863357	67863357	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:67863357G>A	uc002eun.4	-	12	1798	c.1249C>T	c.(1249-1251)Ctt>Ttt	p.L417F	CENPT_uc010vkc.2_Missense_Mutation_p.L175F|CENPT_uc010vkd.1_Missense_Mutation_p.L170F	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN	Homo sapiens centromere protein T (CENPT), mRNA.	417					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GCTGGCTCAAGAAACTGATGA	0.577000														15			9		0	0	0.000978	0	0
RP1L1	94137	broad.mit.edu	37	8	10470431	10470431	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:10470431C>T	uc003wtc.3	-	3	1406	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	393					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCAAAGACTTCCCTGCATCCC	0.657000														52			34		0	0	0.004878	0	0
ASTN1	460	broad.mit.edu	37	1	176853578	176853578	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:176853578C>T	uc001glc.3	-	18	3335	c.3123G>A	c.(3121-3123)ctG>ctA	p.L1041L	ASTN1_uc001glb.1_Silent_p.L1041L|ASTN1_uc001gld.1_Silent_p.L1041L	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1049	Fibronectin type-III 1.				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						GTTCCCACTCCAGGACCACAA	0.532000														36			24		0	0	0.002780	0	0
JUP	3728	broad.mit.edu	37	17	39684413	39684413	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:39684413G>A	uc002hxd.4	-	0	229	c.87C>T	c.(85-87)gtC>gtT	p.V29V	JUP_uc010wfs.2_Intron	NM_002276	NP_002267	P14923	PLAK_HUMAN	Homo sapiens keratin 19 (KRT19), mRNA.	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CGCGAAAGGCGACCCCCGGCC	0.716000														2			8		0	0	0.004482	0	0
MECOM	2122	broad.mit.edu	37	3	168833916	168833916	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:168833916G>T	uc011bpj.1	-	7	2147	c.1744C>A	c.(1744-1746)Ctt>Att	p.L582I	MECOM_uc010hwk.1_Missense_Mutation_p.L417I|MECOM_uc003ffj.3_Missense_Mutation_p.L459I|MECOM_uc003ffi.3_Missense_Mutation_p.L394I|MECOM_uc011bpi.1_Missense_Mutation_p.L395I|MECOM_uc003ffn.3_Missense_Mutation_p.L394I|MECOM_uc003ffk.2_Missense_Mutation_p.L394I|MECOM_uc003ffl.2_Missense_Mutation_p.L554I|MECOM_uc011bpk.1_Missense_Mutation_p.L394I|MECOM_uc010hwn.2_Missense_Mutation_p.L582I	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ACATCATCAAGGTCACTACTC	0.473000														82			11		2.27111e-07	2.49195e-07	0.001368	1	0
OR8I2	120586	broad.mit.edu	37	11	55860916	55860916	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55860916C>T	uc010rix.2	+	0	133	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AAACCTGGGACTGATCACGTT	0.373000														89			43		0	0	0.003610	0	0
ZNF365	22891	broad.mit.edu	37	10	64136000	64136000	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:64136000C>T	uc001jmc.2	+	1	363	c.48C>T	c.(46-48)tcC>tcT	p.S16S	ZNF365_uc001jly.4_Silent_p.S31S|ZNF365_uc001jmb.4_Silent_p.S16S|ZNF365_uc001jlz.4_Silent_p.S16S|ZNF365_uc001jma.4_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGCAGGAGTCCTTTGAGAATG	0.493000														40			11		0	0	0.000978	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48585988	48585988	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:48585988C>T	uc010wmr.2	+	0	244	c.82C>T	c.(82-84)Ctc>Ttc	p.L28F	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	0					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GCCTCGGTGTCTCTGGGCCGG	0.657000														1			4		0	0	0.009096	0	0
ABCA4	24	broad.mit.edu	37	1	94508412	94508412	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:94508412C>T	uc001dqh.3	-	21	3337	c.3233G>A	c.(3232-3234)gGa>gAa	p.G1078E		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1078	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTTGGCATCTCCCACAAAGGC	0.557000														57			27		0	0	0.006320	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52003378	52003378	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:52003378G>A	uc002pwx.1	-	1	660	c.604C>T	c.(604-606)Cca>Tca	p.P202S	SIGLEC12_uc002pww.1_Missense_Mutation_p.P84S|SIGLEC12_uc010eoy.1_Intron	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	202	Ig-like V-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GTGGCCACTGGAATATCCCAT	0.537000														71			40		0	0	0.006230	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76389361	76389361	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:76389361G>A	uc002fex.1	+	1	491	c.352G>A	c.(352-354)Gat>Aat	p.D118N	CNTNAP4_uc002feu.1_Missense_Mutation_p.D114N|CNTNAP4_uc002fev.1_Missense_Mutation_p.D27N|CNTNAP4_uc010chb.1_Missense_Mutation_p.D90N|CNTNAP4_uc002few.2_Missense_Mutation_p.D90N	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	115	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GATGTTCAGTGATAGTGGCTG	0.483000														68			17		0	0	0.008871	0	0
DBC1	1620	broad.mit.edu	37	9	121971207	121971207	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:121971207G>A	uc004bkc.2	-	6	1391	c.935C>T	c.(934-936)tCa>tTa	p.S312L		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	312					cell cycle arrest|cell death	cytoplasm	protein binding	p.S312L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CTTCATAAATGATTTAAACTC	0.493000														31			8		0	0	0.004482	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280677	105280677	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:105280677C>T	uc010npd.3	-	0	608	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	SERPINA7_uc004eme.2_Missense_Mutation_p.E125K|SERPINA7_uc010npe.2_Missense_Mutation_p.E125K	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	125					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)	AATTCCAGTTCCTTCTTTGGA	0.453000														23			63		0	0	0.003610	0	0
MAP1A	4130	broad.mit.edu	37	15	43817595	43817595	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:43817595G>A	uc001zrt.3	+	3	4391	c.3924G>A	c.(3922-3924)gcG>gcA	p.A1308A		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1308				KYLPGAITSPD -> EVLTWGDHQALN (in Ref. 4; AAD00355).		cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TACCTGGGGCGATCACAAGCC	0.507000														48			23		0	0	0.003954	0	0
DACH2	117154	broad.mit.edu	37	X	85403980	85403980	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:85403980C>T	uc004eew.2	+	0	526	c.356C>T	c.(355-357)tCc>tTc	p.S119F	DACH2_uc004eex.2_Missense_Mutation_p.S119F|DACH2_uc010nmq.2_5'UTR	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	119	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CTGGATATATCCCCCGTGGTG	0.562000														12			15		0	0	0.004007	0	0
TTC39C	125488	broad.mit.edu	37	18	21694560	21694560	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:21694560G>A	uc002kuw.3	+	6	1479	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	TTC39C_uc002kuu.3_Missense_Mutation_p.E282K	NM_001135993	NP_694943	Q8N584	TT39C_HUMAN	Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA.	343							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						CACTGCTTTGGAACTTGCAGT	0.373000														41			11		0	0	0.001855	0	0
OR56B1	387748	broad.mit.edu	37	11	5758155	5758155	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5758155C>T	uc001mbt.2	+	0	478	c.409C>T	c.(409-411)Cac>Tac	p.H137Y	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|OR56B1_uc001mbs.1_Missense_Mutation_p.H137Y|OR56B1_uc009yev.1_Missense_Mutation_p.H137Y	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GGCTATTTGTCACCCTCTTCG	0.443000														31			10		0	0	0.008291	0	0
KCNH6	81033	broad.mit.edu	37	17	61611507	61611507	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:61611507C>T	uc002jay.3	+	4	1016	c.936C>T	c.(934-936)gtC>gtT	p.V312V	KCNH6_uc002jax.1_Silent_p.V312V|KCNH6_uc010wpl.2_Silent_p.V189V|KCNH6_uc010wpm.2_Silent_p.V312V|KCNH6_uc002jaz.1_Silent_p.V312V	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	312					regulation of transcription, DNA-dependent|signal transduction			p.F311F(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TCATGTTCGTCGTGGACATCG	0.582000														157			22		0	0	0.003954	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20873618	20873619	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:20873618_20873619GG>AA	uc002dhz.3	-	1	383_384	c.242_243CC>TT	c.(241-243)tcc>tTT	p.S81F	ERI2_uc002dht.3_Intron	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae) (DCUN1D3), mRNA.	81					negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|positive regulation of apoptosis|response to UV-C|response to gamma radiation	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		CCTCGGCATTGGACTTGGACTC	0.564000														107			40		0	0	0.004672	0	0
DDX58	23586	broad.mit.edu	37	9	32477025	32477025	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:32477025C>T	uc003zra.3	-	12	2037	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	DDX58_uc010mjj.3_Non-coding_Transcript|DDX58_uc010mjk.1_Missense_Mutation_p.E582K|DDX58_uc011lnr.1_Missense_Mutation_p.E424K|DDX58_uc010mji.3_Missense_Mutation_p.E556K	NM_014314	NP_055129	O95786	DDX58_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 (DDX58), mRNA.	627	Helicase C-terminal.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		GTTATTGTCTCTGGGTTTAAG	0.403000														45			12		0	0	0.000978	0	0
RPRD2	23248	broad.mit.edu	37	1	150444874	150444874	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:150444874C>T	uc009wlr.3	+	10	3651	c.3450C>T	c.(3448-3450)tcC>tcT	p.S1150S	RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.4_Silent_p.S1124S	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	1150							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGTTGGCATCCCTTGGGGGTG	0.552000														24			7		0	0	0.001984	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894485	78894485	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:78894485G>A	uc002bec.3	-	4	1000	c.499C>T	c.(499-501)Ccg>Tcg	p.P167S	CHRNA3_uc002beb.3_Missense_Mutation_p.P167S|CHRNA3_uc002bea.3_Non-coding_Transcript	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	167					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TAATCAAACGGGAAGTAGGTC	0.488000														76			18		0	0	0.002780	0	0
ZP4	57829	broad.mit.edu	37	1	238048545	238048545	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:238048545G>A	uc001hym.3	-	8	1518	c.1231C>T	c.(1231-1233)Ccc>Tcc	p.P411S	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	411	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGGTGAGAGGGAAATGGAAGA	0.542000														44			16		0	0	0.003163	0	0
TTBK1	84630	broad.mit.edu	37	6	43251423	43251423	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:43251423G>A	uc003ouq.1	+	13	3224	c.2945G>A	c.(2944-2946)gGc>gAc	p.G982D	TTBK1_uc021yzs.1_Missense_Mutation_p.G270D	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	982						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CTGGAGAACGGCCTCGCCCTG	0.687000														32			14		0	0	0.002450	0	0
AZGP1	563	broad.mit.edu	37	7	99564826	99564826	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:99564826C>T	uc003ush.3	-	3	789	c.697G>A	c.(697-699)Ggg>Agg	p.G233R		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	233	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	MHC class I protein complex|extracellular region	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCAATTTTCCCTGGGTAGAAG	0.557000														25			4		0	0	0.000602	0	0
ZAN	7455	broad.mit.edu	37	7	100371412	100371412	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100371412C>T	uc003uwj.3	+	30	5868	c.5703C>T	c.(5701-5703)atC>atT	p.I1901I	ZAN_uc003uwk.3_Silent_p.I1901I|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_5'UTR	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1901	VWFC 3.				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)			ACAACAACATCACCTGCTTCC	0.622000														10			8		0	0	0.006214	0	0
MED12L	116931	broad.mit.edu	37	3	151127083	151127083	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:151127083C>T	uc003eyp.3	+	37	5897	c.5768C>T	c.(5767-5769)cCt>cTt	p.P1923L	MED12L_uc011bnz.2_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1923	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.P1923S(1)		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)			CGGCCCTCCCCTCAGCTCCCT	0.532000														69			22		0	0	0.003330	0	0
EPM2A	7957	broad.mit.edu	37	6	145948663	145948663	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:145948663G>A	uc003qkw.3	-	3	1242	c.885C>T	c.(883-885)ttC>ttT	p.F295F	EPM2A_uc003qkv.3_Silent_p.F295F|EPM2A_uc010khr.3_Missense_Mutation_p.P215S|EPM2A_uc003qkx.3_Silent_p.F157F|EPM2A_uc003qku.3_Silent_p.F141F	NM_005670	NP_005661	O95278	EPM2A_HUMAN	Homo sapiens epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) (EPM2A), transcript variant 1, mRNA.	295	Tyrosine-protein phosphatase.				glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		TGGCCATGAGGAAATACTGCA	0.562000														48			4		0	0	0.000602	0	0
SND1	27044	broad.mit.edu	37	7	127714631	127714631	+	Silent	SNP	C	T	T	rs138799870	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:127714631C>T	uc003vmi.3	+	16	2083	c.1857C>T	c.(1855-1857)tcC>tcT	p.S619S	SND1_uc010lle.3_Silent_p.S272S	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	619	TNase-like 4.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCAACCTGTCCGTCCTGCTGG	0.617000														20			11		0	0	0.000978	0	0
DNAH9	1770	broad.mit.edu	37	17	11583117	11583117	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:11583117T>C	uc002gne.3	+	17	3465	c.3397T>C	c.(3397-3399)Tta>Cta	p.L1133L	DNAH9_uc010coo.3_Silent_p.L427L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1133	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	p.L1133F(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGAGAGCGGCTTACTCAAGAA	0.433000														46			36		0	0	0.008740	0	0
DAZAP1	26528	broad.mit.edu	37	19	1434803	1434803	+	Silent	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:1434803C>A	uc002lsn.3	+	11	1305	c.1116C>A	c.(1114-1116)tcC>tcA	p.S372S	DAZAP1_uc002lsm.3_3'UTR	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	Homo sapiens DAZ associated protein 1 (DAZAP1), transcript variant 2, mRNA.	372	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCTCCTTCCTACGGGGGTC	0.687000														33			11		0.00136819	0.00149283	0.001368	1	0
RAD51AP2	729475	broad.mit.edu	37	2	17699657	17699657	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:17699657C>T	uc002rcl.1	-	0	50	c.26G>A	c.(25-27)cGg>cAg	p.R9Q	RAD51AP2_uc010exn.1_5'UTR	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	9										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTCGGCCATCCGCGGCGTGGG	0.612000														71			30		0	0	0.002836	0	0
TSPAN2	10100	broad.mit.edu	37	1	115615558	115615558	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:115615558G>A	uc001eft.3	-	1	208	c.140C>T	c.(139-141)tCa>tTa	p.S47L	TSPAN2_uc021osc.1_Missense_Mutation_p.S47L	NM_005725	NP_005716	O60636	TSN2_HUMAN	Homo sapiens tetraspanin 2 (TSPAN2), mRNA.	47						integral to membrane		p.S46*(1)		central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CTTGTCCTCTGATGATAACTC	0.498000														58			7		0	0	0.006214	0	0
NBAS	51594	broad.mit.edu	37	2	15427214	15427214	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:15427214G>A	uc002rcc.1	-	41	5147	c.5121C>T	c.(5119-5121)ttC>ttT	p.F1707F	NBAS_uc010exl.1_Silent_p.F779F|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1707										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CCGTGAAGAGGAACTCCAAAT	0.423000														49			10		0	0	0.008291	0	0
SIX1	6495	broad.mit.edu	37	14	61115468	61115468	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:61115468G>C	uc001xfb.4	-	0	688	c.440C>G	c.(439-441)cCc>cGc	p.P147R		NM_005982	NP_005973	Q15475	SIX1_HUMAN	Homo sapiens SIX homeobox 1 (SIX1), mRNA.	147					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CGATGGGTAGGGATTGTGCGC	0.627000														21			7		0	0	0.003080	0	0
MAPK4	5596	broad.mit.edu	37	18	48255619	48255619	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:48255619G>A	uc002lev.3	+	5	2159	c.1159G>A	c.(1159-1161)Gcg>Acg	p.A387T	MAPK4_uc010xdm.2_Missense_Mutation_p.A176T|MAPK4_uc010doz.3_3'UTR	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	387					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CGCGGGTTCGGCGCCACTGGC	0.697000														22			6		0	0	0.001168	0	0
SNRK	54861	broad.mit.edu	37	3	43389194	43389194	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:43389194G>A	uc003cms.4	+	6	1775	c.1443G>A	c.(1441-1443)aaG>aaA	p.K481K	SNRK_uc003cmt.4_Silent_p.K481K|SNRK_uc010hik.3_Silent_p.K481K|SNRK_uc011azr.2_Silent_p.K275K	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.	481					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CATCCAGGAAGAGTGCGCCCG	0.502000														79			37		0	0	0.002522	0	0
ZNF326	284695	broad.mit.edu	37	1	90484280	90484280	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:90484280C>T	uc001dnq.2	+	8	1250	c.1111C>T	c.(1111-1113)Cgt>Tgt	p.R371C	ZNF326_uc009wda.1_Missense_Mutation_p.R282C|ZNF326_uc001dnr.2_Missense_Mutation_p.R165C	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	Homo sapiens zinc finger protein 326 (ZNF326), transcript variant 1, mRNA.	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		AACATCTATTCGTAAGCAACA	0.259000														46			26		0	0	0.002445	0	0
NUP210	23225	broad.mit.edu	37	3	13417924	13417924	+	Missense_Mutation	SNP	C	T	T	rs141201901		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:13417924C>T	uc003bxv.1	-	9	1243	c.1160G>A	c.(1159-1161)cGa>cAa	p.R387Q	NUP210_uc003bxx.3_Missense_Mutation_p.R59Q	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	387					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AGTTTCAATTCGGATGTTCTG	0.542000														35			11		0	0	0.000978	0	0
RP1L1	94137	broad.mit.edu	37	8	10473967	10473967	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:10473967C>T	uc003wtc.3	-	2	969	c.740G>A	c.(739-741)aGa>aAa	p.R247K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	247					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GTTTTTGTTTCTTGAAGTCAG	0.512000														38			21		0	0	0.002299	0	0
VWC2L	402117	broad.mit.edu	37	2	215278933	215278933	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:215278933C>T	uc002vet.2	+	1	146	c.16C>T	c.(16-18)Cat>Tat	p.H6Y	VWC2L_uc010zjl.1_Missense_Mutation_p.H6Y	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	6						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TCTTCATATTCATGAAGCTTG	0.458000														42			26		0	0	0.002096	0	0
TTN	7273	broad.mit.edu	37	2	179464311	179464311	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179464311C>T	uc021vsy.1	-	237	48838	c.48613G>A	c.(48613-48615)Gca>Aca	p.A16205T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A9900T|TTN_uc021vta.1_Missense_Mutation_p.A9833T|TTN_uc021vtb.1_Missense_Mutation_p.A9708T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17132	Fibronectin type-III 17.						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)			TCCTTTGATGCTGTTCCCAGA	0.383000														154			78		0	0	0.003610	0	0
SLC15A2	6565	broad.mit.edu	37	3	121613360	121613360	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:121613360C>T	uc003eep.2	+	0	190	c.37C>T	c.(37-39)Ctt>Ttt	p.L13F	SLC15A2_uc011bjn.1_Missense_Mutation_p.L13F	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	13					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CAAGGAAACTCTTTTTTCACC	0.483000														112			51		0	0	0.003610	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968097	102968097	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:102968097G>A	uc002tbu.1	+	10	1658	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	IL18R1_uc002tbw.4_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	463	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	p.E463*(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CTACGAGCAGGAGGTTGCCCT	0.537000														31			9		0	0	0.006214	0	0
LIG1	3978	broad.mit.edu	37	19	48653380	48653380	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:48653380G>A	uc002pia.1	-	7	782	c.662C>T	c.(661-663)cCc>cTc	p.P221L	LIG1_uc010xze.1_5'UTR|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Missense_Mutation_p.P153L|LIG1_uc010xzg.1_Missense_Mutation_p.P190L|LIG1_uc010xzh.1_Non-coding_Transcript	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	221					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	p.P221S(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	AGCTCTGCGGGGAGGCTTGGT	0.612000								Nucleotide excision repair (NER)						45			12		0	0	0.000978	0	0
SIRPG	55423	broad.mit.edu	37	20	1629899	1629899	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:1629899T>A	uc002wfm.1	-	1	294	c.229A>T	c.(229-231)Atc>Ttc	p.I77F	SIRPG_uc002wfn.1_Missense_Mutation_p.I77F|SIRPG_uc002wfo.1_Missense_Mutation_p.I77F	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	77	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TGATTGTAGATTAATTCCCGG	0.512000														69			17		0	0	0.004990	0	0
TAF1L	138474	broad.mit.edu	37	9	32631806	32631806	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:32631806C>T	uc003zrg.1	-	0	3862	c.3772G>A	c.(3772-3774)Gaa>Aaa	p.E1258K	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1258					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTCTCCTTTTCCTGGTTCCGC	0.473000														45			10		0	0	0.006214	0	0
CA9	768	broad.mit.edu	37	9	35680762	35680762	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:35680762C>T	uc003zxo.4	+	9	1292	c.1250C>T	c.(1249-1251)gCc>gTc	p.A417V		NM_001216	NP_001207	Q16790	CAH9_HUMAN	Homo sapiens carbonic anhydrase IX (CA9), mRNA.	417					one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACATCCTAGCCCTGGTTTTT	0.557000														40			9		0	0	0.004482	0	0
PENK	5179	broad.mit.edu	37	8	57353905	57353905	+	Missense_Mutation	SNP	C	T	T	rs149967411		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:57353905C>T	uc003xsz.2	-	1	811	c.730G>A	c.(730-732)Gac>Aac	p.D244N	PENK_uc003xta.3_Missense_Mutation_p.D244N	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	244					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCTTCTTCGTCGGAGGGCAGA	0.493000														82			12		0	0	0.000978	0	0
TLR4	7099	broad.mit.edu	37	9	120474857	120474858	+	Missense_Mutation	DNP	AC	TA	TA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:120474857_120474858AC>TA	uc004bjz.3	+	2	742_743	c.451_452AC>TA	c.(451-453)act>TAt	p.T151Y	TLR4_uc004bkb.3_5'UTR|TLR4_uc004bka.3_Missense_Mutation_p.T111Y	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	151					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ACATCTCAAAACTTTGAAAGAA	0.416000														38			9		0	0	0.004672	0	0
DDX60	55601	broad.mit.edu	37	4	169158553	169158553	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:169158553G>A	uc003irp.3	-	31	4587	c.4295C>T	c.(4294-4296)cCt>cTt	p.P1432L		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1432							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AAACCCCATAGGATTACCTTC	0.323000														15			7		0	0	0.003080	0	0
VWA5A	4013	broad.mit.edu	37	11	124007909	124007909	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:124007909C>T	uc001pzu.3	+	14	2022	c.1813C>T	c.(1813-1815)Cat>Tat	p.H605Y	VWA5A_uc001pzt.3_Missense_Mutation_p.H605Y	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	605										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GCCTCTGGCTCATAGGGACGT	0.453000														18			15		0	0	0.004007	0	0
HARS	3035	broad.mit.edu	37	5	140062742	140062742	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140062742G>A	uc003lgv.3	-	2	325	c.243C>T	c.(241-243)atC>atT	p.I81I	HARS_uc003lgu.3_Silent_p.I12I|HARS_uc011czm.2_Intron|HARS_uc003lgw.3_Silent_p.I81I|HARS_uc011czn.2_Intron|HARS_uc011czo.2_Silent_p.I81I|HARS_uc011czp.2_Intron|HARS_uc011czq.2_Silent_p.I81I	NM_002109	NP_002100	P12081	SYHC_HUMAN	Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	81					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TGAAGCAACGGATGATTACGT	0.483000														38			13		0	0	0.001855	0	0
MIER2	54531	broad.mit.edu	37	19	307485	307485	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:307485G>A	uc002lok.1	-	12	1259	c.1250C>T	c.(1249-1251)gCc>gTc	p.A417V		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		TCCATCAGAGGCCACTCCGGG	0.672000														11			5		0	0	0.000602	0	0
TCL1A	8115	broad.mit.edu	37	14	96180377	96180377	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:96180377C>T	uc001yfc.4	-	0	157	c.27G>A	c.(25-27)gaG>gaA	p.E9E	BX247990_uc001yfd.1_5'Flank|TCL1A_uc001yfb.4_Silent_p.E9E	NM_001098725	NP_068801	P56279	TCL1A_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1A (TCL1A), transcript variant 2, mRNA.	9					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CGGTGACTGCCTCCCCGAGTG	0.657000			T	TRA@	T-CLL									35			31		0	0	0.002445	0	0
MYL1	4632	broad.mit.edu	37	2	211158512	211158512	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:211158512T>A	uc002vec.3	-	4	620	c.491A>T	c.(490-492)aAa>aTa	p.K164I	MYL1_uc002veb.3_Missense_Mutation_p.K120I	NM_079420	NP_524144	P05976	MYL1_HUMAN	Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.	164	EF-hand 3.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TTCTTCCTCTTTCATCTTTTC	0.448000														124			63		0	0	0.003610	0	0
PRKG1	5592	broad.mit.edu	37	10	54040660	54040660	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:54040660C>T	uc001jjm.3	+	12	1698	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	PRKG1_uc001jjo.3_Silent_p.L505L|PRKG1_uc009xow.2_Silent_p.L208L|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	490	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CAGAAAATCTCATCCTAGATC	0.388000														29			11		0	0	0.002450	0	0
OR2G3	81469	broad.mit.edu	37	1	247769241	247769241	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:247769241G>A	uc010pyz.2	+	0	354	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGCTGACATGGCCTTGGATC	0.507000														169			27		0	0	0.005443	0	0
PLCZ1	89869	broad.mit.edu	37	12	18836234	18836234	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:18836234G>A	uc021qvx.1	-	14	1957	c.1766C>T	c.(1765-1767)tCc>tTc	p.S589F	PLCZ1_uc001rdv.4_Missense_Mutation_p.S485F|PLCZ1_uc001rdw.4_Missense_Mutation_p.S330F|PLCZ1_uc001rdu.1_Missense_Mutation_p.S371F|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	589					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					ACCCATTCTGGAAAACAGAGG	0.388000														20			47		0	0	0.003610	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665909	19665909	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:19665909G>A	uc002wrl.3	+	11	1425	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	410						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCTGGCAACGAAACAgagaa	0.537000														32			17		0	0	0.004007	0	0
TTC40	54777	broad.mit.edu	37	10	134647602	134647602	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:134647602C>T	uc021qbc.1	-	48	6993	c.6892G>A	c.(6892-6894)Gat>Aat	p.D2298N		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	459										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TTCCCTGAATCGGCAACAACC	0.522000														58			16		0	0	0.004990	0	0
GNAI2	2771	broad.mit.edu	37	3	50293694	50293694	+	Missense_Mutation	SNP	C	T	T	rs137853226		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:50293694C>T	uc003cyq.1	+	4	656	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	GNAI2_uc003cyo.1_Missense_Mutation_p.R163C|GNAI2_uc003cyp.1_Missense_Mutation_p.R163C|GNAI2_uc010hlg.1_Missense_Mutation_p.R98C|GNAI2_uc011bdn.2_Missense_Mutation_p.R142C|GNAI2_uc003cyr.1_Missense_Mutation_p.R98C	NM_002070	NP_002061	P04899	GNAI2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 (GNAI2), transcript variant 1, mRNA.	179					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.R179H(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GCTACGGACCCGCGTAAAGAC	0.592000														30			15		0	0	0.004990	0	0
NUDCD1	84955	broad.mit.edu	37	8	110255462	110255463	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:110255462_110255463GG>AA	uc003ynb.4	-	9	1638_1639	c.1527_1528CC>TT	c.(1525-1530)gccctt>gcTTtt	p.L510F	NUDCD1_uc003yna.3_Missense_Mutation_p.L481F|NUDCD1_uc010mcl.3_Missense_Mutation_p.L423F	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	Homo sapiens NudC domain containing 1 (NUDCD1), transcript variant 1, mRNA.	510								p.A509A(2)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CACTCACAAAGGGCTGCATACG	0.441000														127			43		0	0	0.004672	0	0
C2orf77	129881	broad.mit.edu	37	2	170506914	170506914	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:170506914C>T	uc002ufe.2	-	6	1171	c.1077G>A	c.(1075-1077)tgG>tgA	p.W359*		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	Homo sapiens chromosome 2 open reading frame 77 (C2orf77), mRNA.	359										endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|urinary_tract(2)	23						CTCTTTTTTCCCATTCAGCCT	0.313000														20			5		0	0	0.000602	0	0
PRUNE2	158471	broad.mit.edu	37	9	79267532	79267532	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:79267532G>A	uc010mpk.3	-	10	8548	c.8424C>T	c.(8422-8424)atC>atT	p.I2808I	PRUNE2_uc011lsk.2_Silent_p.I57I|PRUNE2_uc011lsl.2_Silent_p.I72I|PRUNE2_uc011lsm.2_Silent_p.I72I|PRUNE2_uc004akj.4_Silent_p.I261I|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_Silent_p.I261I	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2808					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAGAAAGATTGATATTTGGGG	0.408000														124			25		0	0	0.003954	0	0
UGT2B17	7367	broad.mit.edu	37	4	69416504	69416504	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:69416504C>T	uc021xov.1	-	4	1247	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	402					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GCAATGTTATCATGTTGATCC	0.448000														61			67		0	0	0.003610	0	0
LACRT	90070	broad.mit.edu	37	12	55028623	55028623	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:55028623C>T	uc001sgi.1	-	0	41	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_033277	NP_150593	Q9GZZ8	LACRT_HUMAN	Homo sapiens lacritin (LACRT), mRNA.	1					calcineurin-NFAT signaling pathway|positive regulation of NFAT protein import into nucleus|positive regulation of epithelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						TGGTAAATTTCATTCTTTGGG	0.512000														21			8		0	0	0.003080	0	0
TCEB3C	162699	broad.mit.edu	37	18	44554621	44554621	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:44554621C>T	uc010xdb.2	-	0	1829	c.1593G>A	c.(1591-1593)ctG>ctA	p.L531L	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	531					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CCTTGGCCATCAGCGGGGCCA	0.617000														382			12		0	0	0.000978	0	0
ZNF645	158506	broad.mit.edu	37	X	22292062	22292062	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:22292062G>A	uc004dai.2	+	0	1033	c.954G>A	c.(952-954)acG>acA	p.T318T		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	Homo sapiens zinc finger protein 645 (ZNF645), mRNA.	318	Pro-rich.					intracellular	zinc ion binding	p.T318M(1)		cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						CTCTAACCACGACCTACGATC	0.458000														10			37		0	0	0.006230	0	0
C19orf75	284369	broad.mit.edu	37	19	51768691	51768691	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:51768691G>A	uc002pwb.1	+	2	473	c.92G>A	c.(91-93)gGg>gAg	p.G31E	C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	31						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						TCCTTCCATGGGATTCCCACA	0.587000														39			28		0	0	0.008361	0	0
NRG3	10718	broad.mit.edu	37	10	84711289	84711289	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:84711289C>T	uc021pvc.1	+	4	1146	c.1119C>T	c.(1117-1119)atC>atT	p.I373I	NRG3_uc010qlz.1_Silent_p.I372I|NRG3_uc021pvb.1_Intron|NRG3_uc001kco.2_Silent_p.I373I|NRG3_uc001kcp.2_Silent_p.I152I|NRG3_uc001kcq.2_Silent_p.I23I|NRG3_uc021pvd.1_Silent_p.I152I|NRG3_uc021pve.1_Silent_p.I177I|NRG3_uc021pvf.1_Silent_p.I23I|NRG3_uc021pvg.1_Silent_p.I177I|NRG3_uc021pvh.1_5'UTR|NRG3_uc021pvi.1_Silent_p.I203I|NRG3_uc021pvk.1_5'UTR|NRG3_uc001kcr.2_Silent_p.I23I|NRG3_uc021pvl.1_Silent_p.I23I	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	373					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GAATTGTCATCGTGGGCATGT	0.353000														42			15		0	0	0.004990	0	0
TMEM68	137695	broad.mit.edu	37	8	56668905	56668905	+	Nonsense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:56668905C>A	uc003xsg.1	-	1	460	c.391G>T	c.(391-393)Gga>Tga	p.G131*	TMEM68_uc003xsh.1_Nonsense_Mutation_p.G131*	NM_152417	NP_689630	Q96MH6	TMM68_HUMAN	Homo sapiens transmembrane protein 68 (TMEM68), mRNA.	131						integral to membrane	acyltransferase activity			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			GGAATAGCTCCATGATAAAAA	0.308000														49			6		5.9392e-07	6.51306e-07	0.001168	1	0
MAGEA6	4105	broad.mit.edu	37	X	151870060	151870060	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:151870060C>T	uc022chf.1	+	0	750	c.750C>T	c.(748-750)ttC>ttT	p.F250F	MAGEA6_uc004ffq.1_Silent_p.F250F|MAGEA6_uc004ffr.1_Silent_p.F250F	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	250	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAATATTTCGTGCAGGAAA	0.537000														24			80		0	0	0.003610	0	0
USH2A	7399	broad.mit.edu	37	1	215808041	215808041	+	Silent	SNP	C	T	T	rs144781528		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:215808041C>T	uc001hku.1	-	69	15444	c.15057G>A	c.(15055-15057)ttG>ttA	p.L5019L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	5019					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGTTAGGACCAAGCCTGCAA	0.448000										HNSCC(13;0.011)				56			19		0	0	0.010504	0	0
PPP1R14A	94274	broad.mit.edu	37	19	38743536	38743536	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:38743536G>A	uc002ohq.3	-	1	532	c.280C>T	c.(280-282)Cag>Tag	p.Q94*	PPP1R14A_uc010efv.3_Intron	NM_033256	NP_150281	Q96A00	PP14A_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14A (PPP1R14A), transcript variant 1, mRNA.	94	Inhibitory.				regulation of phosphorylation	cytoplasm	protein binding|protein phosphatase inhibitor activity			lung(1)	1	all_cancers(60;9.57e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCACCTACCTGGATTTTCCGG	0.527000														152			67		0	0	0.003610	0	0
GALNTL2	117248	broad.mit.edu	37	3	16254142	16254142	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:16254142C>T	uc003car.4	+	5	1739	c.1264C>T	c.(1264-1266)Cag>Tag	p.Q422*	GALNTL2_uc003caq.4_Nonsense_Mutation_p.Q155*	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	422						Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						CTACCAAAATCAGGATTCCCA	0.537000														45			21		0	0	0.001882	0	0
PCSK6	5046	broad.mit.edu	37	15	101865106	101865106	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:101865106C>T	uc002bxa.2	-	17	2637	c.2323G>A	c.(2323-2325)Gag>Aag	p.E775K	PCSK6_uc010bpd.3_Missense_Mutation_p.E572K|PCSK6_uc002bwy.3_Missense_Mutation_p.E775K|PCSK6_uc010bpe.3_Missense_Mutation_p.E759K|PCSK6_uc002bxb.2_Missense_Mutation_p.E762K	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	776	CRM (Cys-rich motif).				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGTTCATCTCCTGGTGGTGA	0.562000														32			11		0	0	0.001368	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575135	74575135	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:74575135C>T	uc001dfy.4	-	4	1002	c.810G>A	c.(808-810)aaG>aaA	p.K270K	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	270								p.L269I(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AAAAGAGATCCTTAAGGAGCT	0.269000														19			18		0	0	0.006122	0	0
NUP205	23165	broad.mit.edu	37	7	135301894	135301894	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:135301894G>A	uc003vsw.3	+	25	3620	c.3589G>A	c.(3589-3591)Gag>Aag	p.E1197K		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1197					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GGAGATCCCTGAGCCTTTGCA	0.368000														32			7		0	0	0.001984	0	0
ZNF221	7638	broad.mit.edu	37	19	44466927	44466927	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:44466927C>T	uc002oxx.2	+	2	377	c.49C>T	c.(49-51)Cct>Tct	p.P17S	ZNF221_uc010ejb.1_Missense_Mutation_p.P17S|ZNF221_uc010xws.1_Missense_Mutation_p.P17S	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	Homo sapiens zinc finger protein 221 (ZNF221), mRNA.	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				CTGCAAATTCCCTGAAGTAGA	0.403000														41			4		0	0	0.001168	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294795	110294795	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:110294795C>T	uc001dyr.2	-	14	1481	c.1256G>A	c.(1255-1257)gGg>gAg	p.G419E	EPS8L3_uc001dys.2_Intron|EPS8L3_uc001dyq.2_Missense_Mutation_p.G420E|EPS8L3_uc009wfm.2_Intron|EPS8L3_uc009wfn.2_Intron	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	419						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		TGAGGTGCTCCCTAACCTATG	0.582000														134			75		0	0	0.003610	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643046	1643046	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:1643046G>A	uc009ycy.1	-	1	260	c.173C>T	c.(172-174)tCc>tTc	p.S58F	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	153	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.P58P(1)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACCCCCACAGGAGACACAGCC	0.687000														84			11		0	0	0.001855	0	0
RGL3	57139	broad.mit.edu	37	19	11508178	11508178	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:11508178G>A	uc002mro.2	-	16	1924	c.1860C>T	c.(1858-1860)gcC>gcT	p.A620A	RGL3_uc002mrn.2_Silent_p.A378A|RGL3_uc002mrm.2_Silent_p.A378A|RGL3_uc002mrp.2_Silent_p.A614A	NM_001161616	NP_001155088	Q3MIN7	RGL3_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 3 (RGL3), transcript variant 1, mRNA.	614	Interaction with HRAS, MRAS and RIT1 (By similarity).|Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GGATGACACGGGCCTCCGAGC	0.682000														23			11		0	0	0.000978	0	0
MUC16	94025	broad.mit.edu	37	19	9091052	9091052	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9091052C>T	uc002mkp.3	-	0	967	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	255	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						AGAATCAGTTCCAGGCTTGTT	0.478000														33			15		0	0	0.002450	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502505	140502505	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140502505G>A	uc003lip.1	+	0	925	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	309	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTGGATTTCGAAAAAATTAA	0.358000														78			22		0	0	0.001882	0	0
IL18RAP	8807	broad.mit.edu	37	2	103061691	103061691	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:103061691C>T	uc002tbx.3	+	8	1447	c.963C>T	c.(961-963)atC>atT	p.I321I	IL18RAP_uc010fiz.3_Silent_p.I179I	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	321	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AGCGTAATATCATCTTGGAAA	0.388000														22			14		0	0	0.004007	0	0
RYR1	6261	broad.mit.edu	37	19	39018290	39018290	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:39018290G>A	uc002oit.3	+	72	10820	c.10690G>A	c.(10690-10692)Gaa>Aaa	p.E3564K	RYR1_uc002oiu.3_Missense_Mutation_p.E3559K|RYR1_uc002oiv.1_Missense_Mutation_p.E479K|RYR1_uc010xuf.1_Missense_Mutation_p.E484K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3564					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTTCAGGTCGAAGGCTCCCC	0.642000														31			13		0	0	0.004007	0	0
HOXB7	3217	broad.mit.edu	37	17	46688173	46688173	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:46688173G>A	uc002inv.3	-	0	211	c.108C>T	c.(106-108)tcC>tcT	p.S36S		NM_004502	NP_004493	P09629	HXB7_HUMAN	Homo sapiens homeobox B7 (HOXB7), mRNA.	36						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						GCTGGGGGTTGGAAGCAAACG	0.582000														21			7		0	0	0.003080	0	0
GSTA2	2939	broad.mit.edu	37	6	52617747	52617747	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:52617747G>A	uc003pay.3	-	4	469	c.319C>T	c.(319-321)Ctt>Ttt	p.L107F		NM_000846	NP_000837	P09210	GSTA2_HUMAN	Homo sapiens glutathione S-transferase alpha 2 (GSTA2), mRNA.	107	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	GGCAGAAGAAGGATCATTTCA	0.368000														95			49		0	0	0.003610	0	0
C3P1	388503	broad.mit.edu	37	19	10158123	10158123	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:10158123C>T	uc010dwx.2	+	10		c.1566C>T								Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA.											endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TTTCAGGGATCGCCAGGCCAA	0.428000														58			17		0	0	0.006122	0	0
NR6A1	2649	broad.mit.edu	37	9	127316765	127316765	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:127316765G>A	uc004bor.1	-	2	405	c.227C>T	c.(226-228)tCc>tTc	p.S76F	NR6A1_uc004boq.1_Missense_Mutation_p.S72F|NR6A1_uc010mwq.1_Missense_Mutation_p.S72F	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	Homo sapiens nuclear receptor subfamily 6, group A, member 1 (NR6A1), transcript variant 1, mRNA.	76					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GCCCTCACAGGAGATGATCCC	0.493000														52			26		0	0	0.008361	0	0
DPPA4	55211	broad.mit.edu	37	3	109049513	109049513	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:109049513C>T	uc003dxq.4	-	4	592	c.537G>A	c.(535-537)ctG>ctA	p.L179L	DPPA4_uc011bho.2_Intron|DPPA4_uc011bhp.1_Silent_p.L179L	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	179						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGGAATTTTCCAGGGCAGGCG	0.527000														58			17		0	0	0.007413	0	0
ALPK3	57538	broad.mit.edu	37	15	85399721	85399721	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:85399721C>T	uc002ble.3	+	5	2525	c.2358C>T	c.(2356-2358)atC>atT	p.I786I		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	786					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTCAAGGTATCATTGAACCCA	0.517000														34			13		0	0	0.002450	0	0
NME8	51314	broad.mit.edu	37	7	37889893	37889893	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:37889893C>T	uc003tfn.3	+	2	397	c.25C>T	c.(25-27)Cag>Tag	p.Q9*		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	9	Thioredoxin.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										ACGAGAAGTCCAGTTACAGGT	0.333000														90			59		0	0	0.003610	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64602854	64602854	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:64602854C>T	uc001obs.4	-	15	1918	c.1918G>A	c.(1918-1920)Gag>Aag	p.E640K		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	640					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CGGTTTTCCTCCTGCAGCTGG	0.667000														236			83		0	0	0.003610	0	0
C2orf40	84417	broad.mit.edu	37	2	106694260	106694260	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:106694260C>T	uc010fjf.3	+	3	433	c.325C>T	c.(325-327)Cga>Tga	p.R109*		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	Homo sapiens chromosome 2 open reading frame 40 (C2orf40), mRNA.	109						extracellular region|transport vesicle		p.R109R(2)		lung(7)|urinary_tract(1)	8						TAACAGAGATCGAAATGGACA	0.453000														58			21		0	0	0.003330	0	0
OR2A25	392138	broad.mit.edu	37	7	143772188	143772188	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:143772188G>A	uc011ktx.2	+	0	876	c.876G>A	c.(874-876)agG>agA	p.R292R		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	292					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)					ATAGTCTTAGGAACAAGGAAG	0.423000														146			77		0	0	0.003610	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51630528	51630528	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:51630528G>A	uc010yct.2	+	3	1085	c.990G>A	c.(988-990)caG>caA	p.Q330Q	SIGLEC9_uc002pvu.3_Silent_p.Q330Q	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	330	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GCTCTCAGCAGGTCTACCTGA	0.602000														27			5		0	0	0.000602	0	0
AACS	65985	broad.mit.edu	37	12	125576000	125576000	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:125576000C>T	uc001uhc.3	+	4	707	c.501C>T	c.(499-501)gtC>gtT	p.V167V	AACS_uc009zyg.2_Non-coding_Transcript|AACS_uc001uhd.3_Silent_p.V167V|AACS_uc009zyh.3_Non-coding_Transcript	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	167					fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		AGCACGCTGTCGAGGCGATGC	0.552000														26			10		0	0	0.006214	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653856	46653856	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:46653856G>A	uc003bhh.3	-	0	5364	c.5364C>T	c.(5362-5364)atC>atT	p.I1788I		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1788					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GAAGGCCAAGGATTTTAGACG	0.413000														74			64		0	0	0.003610	0	0
LILRB1	10859	broad.mit.edu	37	19	55144765	55144765	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55144765C>T	uc002qgj.3	+	7	1597	c.1257C>T	c.(1255-1257)gtC>gtT	p.V419V	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.V419V|LILRB1_uc002qgk.3_Silent_p.V419V|LILRB1_uc002qgm.3_Silent_p.V419V|LILRB1_uc010erq.3_Silent_p.V419V|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	419					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGCTCGTGGTCTCAGGTGGGG	0.637000										HNSCC(37;0.09)				68			7		0	0	0.004482	0	0
EZR	7430	broad.mit.edu	37	6	159206478	159206478	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:159206478G>A	uc003qrt.4	-	3	545	c.330C>T	c.(328-330)atC>atT	p.I110I	EZR_uc011efs.2_Silent_p.I78I|EZR_uc003qru.4_Silent_p.I110I	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	110	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CATCGCTAAGGATTCCTTCCT	0.522000			T	ROS1	NSCLC									39			15		0	0	0.003163	0	0
PLBD1	79887	broad.mit.edu	37	12	14693812	14693812	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:14693812T>C	uc001rcc.1	-	3	605	c.444A>G	c.(442-444)aaA>aaG	p.K148K		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.	148					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						CTTTGATATTTTTCCGGGTCC	0.398000														33			64		0	0	0.003610	0	0
ROBO4	54538	broad.mit.edu	37	11	124761258	124761258	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:124761258C>T	uc001qbg.3	-	11	2025	c.1885G>A	c.(1885-1887)Gga>Aga	p.G629R	ROBO4_uc010sas.2_Missense_Mutation_p.G484R|ROBO4_uc001qbh.2_Missense_Mutation_p.G519R|ROBO4_uc001qbi.3_Missense_Mutation_p.G187R|ROBO4_uc010sat.1_Missense_Mutation_p.G187R	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	629					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GAAGAGAGTCCCCTGCGGCTG	0.632000														34			4		0	0	0.009096	0	0
ADH1C	126	broad.mit.edu	37	4	100261858	100261858	+	RNA	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:100261858G>T	uc021xqi.1	-	6		c.923C>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CAACATAACAGGGAAGCCATC	0.433000														39			42		7.66079e-34	8.47573e-34	0.002522	1	0
CLDN18	51208	broad.mit.edu	37	3	137717715	137717715	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:137717715C>T	uc003ero.1	+	0	58	c.5C>T	c.(4-6)gCc>gTc	p.A2V		NM_001002026	NP_001002026	P56856	CLD18_HUMAN	Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA.	2					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GCCACCATGGCCGTGACTGCC	0.572000														32			13		0	0	0.001368	0	0
REXO1L1	254958	broad.mit.edu	37	8	86567344	86567344	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:86567344C>T	uc003ydl.1	-	0	562	c.475G>A	c.(475-477)Gag>Aag	p.E159K		NM_172239	NP_758439	Q8IX06	GOR_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA.	516						cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						CGGGTCAGCTCCAGGCCATGC	0.562000														75			12		0	0	0.001368	0	0
CASR	846	broad.mit.edu	37	3	121980613	121980613	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:121980613C>T	uc003eew.4	+	3	1169	c.731C>T	c.(730-732)tCc>tTc	p.S244F	CASR_uc003eev.4_Missense_Mutation_p.S244F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	244					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.S244S(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GAACTCATCTCCCAGTACTCT	0.498000														131			8		0	0	0.000978	0	0
ABCA12	26154	broad.mit.edu	37	2	215845252	215845252	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:215845252C>T	uc002vew.3	-	30	4915	c.4695G>A	c.(4693-4695)aaG>aaA	p.K1565K	ABCA12_uc002vev.3_Silent_p.K1247K|ABCA12_uc010zjn.2_Silent_p.K492K	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1565	ABC transporter 1.				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)		CAAAGGCTTCCTTGAGGTAAA	0.488000														54			30		0	0	0.002096	0	0
DEF6	50619	broad.mit.edu	37	6	35280081	35280081	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:35280081G>A	uc003okk.3	+	3	465	c.426G>A	c.(424-426)gtG>gtA	p.V142V	DEF6_uc010jvs.3_Silent_p.V142V|DEF6_uc010jvt.3_Intron	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.	142						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						TGCTCCAGGTGGAATACCTGC	0.607000														26			14		0	0	0.001855	0	0
HRH1	3269	broad.mit.edu	37	3	11302062	11302062	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:11302062G>A	uc010hdr.3	+	1	1681	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	HRH1_uc010hds.3_Missense_Mutation_p.E447K|HRH1_uc010hdt.3_Missense_Mutation_p.E447K|HRH1_uc003bwb.4_Missense_Mutation_p.E447K|HRH1_uc021wtb.1_Missense_Mutation_p.E447K	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	447					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CTGTTGCAATGAACATTTGCA	0.458000														218			29		0	0	0.002096	0	0
OR4K2	390431	broad.mit.edu	37	14	20344752	20344752	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20344752G>A	uc001vwh.1	+	0	326	c.326G>A	c.(325-327)gGa>gAa	p.G109E		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		CTTTTCACTGGAACTGAGATC	0.438000														175			16		0	0	0.004990	0	0
ATP13A5	344905	broad.mit.edu	37	3	193025133	193025133	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:193025133C>T	uc011bsq.2	-	21	2551	c.2551G>A	c.(2551-2553)Gga>Aga	p.G851R		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	851					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TCGTTAGCTCCATCTCCACAC	0.453000														23			24		0	0	0.004656	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43795855	43795855	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:43795855G>A	uc002zbb.2	-	11	1518	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	TMPRSS3_uc002zay.2_Silent_p.S196S|TMPRSS3_uc002zaz.2_Silent_p.S312S|TMPRSS3_uc002zba.2_Silent_p.S312S|TMPRSS3_uc002zbc.2_Silent_p.S438S	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	439	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						AGTCCAGGAAGGAGGTGACAC	0.597000														36			38		0	0	0.004878	0	0
CFB	629	broad.mit.edu	37	6	31902050	31902050	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:31902050G>A	uc003nyf.3	+	5	1087	c.823G>A	c.(823-825)Gag>Aag	p.E275K	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Missense_Mutation_p.E275K|CFB_uc010jtk.3_Missense_Mutation_p.E143K|CFB_uc011doq.2_Missense_Mutation_p.E246K|CFB_uc011dor.2_Intron|CFB_uc003nyh.2_5'Flank	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	291	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CATCTTCAAGGAGAGCGCCTC	0.547000														199			90		0	0	0.003610	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413485	61413485	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:61413485C>T	uc010qig.1	-	4	1748	c.1299G>A	c.(1297-1299)ggG>ggA	p.G433G		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	433					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						ACATTAATATCCCATAGGCAT	0.403000														18			14		0	0	0.006122	0	0
CD101	9398	broad.mit.edu	37	1	117554458	117554458	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:117554458G>A	uc010oxb.1	+	2	769	c.711G>A	c.(709-711)gaG>gaA	p.E237E	CD101_uc009whd.3_Silent_p.E237E|CD101_uc010oxc.1_Silent_p.E237E|CD101_uc010oxd.1_Silent_p.E175E	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	237	Ig-like C2-type 2.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGTCCATAGAGAGGCTCCAGT	0.498000														23			12		0	0	0.001855	0	0
SYNJ2	8871	broad.mit.edu	37	6	158514020	158514020	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:158514020G>A	uc003qqx.2	+	25	3734	c.3628G>A	c.(3628-3630)Gag>Aag	p.E1210K	SYNJ2_uc003qqw.2_Missense_Mutation_p.E1210K|SYNJ2_uc003qqy.2_Missense_Mutation_p.E973K|SYNJ2_uc003qqz.2_Missense_Mutation_p.E827K|SYNJ2_uc003qra.2_Missense_Mutation_p.E553K	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1210	Pro-rich.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTCTGAACCAGAGCCCACACC	0.597000														45			11		0	0	0.008291	0	0
SYNE1	23345	broad.mit.edu	37	6	152847286	152847286	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:152847286C>T	uc021zhb.1	-	2	377	c.154G>A	c.(154-156)Gat>Aat	p.D52N	SYNE1_uc003qot.4_Missense_Mutation_p.D52N|SYNE1_uc003qou.4_Missense_Mutation_p.D52N|SYNE1_uc010kjb.1_Missense_Mutation_p.D52N|SYNE1_uc003qpa.1_Missense_Mutation_p.D52N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	52	Actin-binding.|CH 1.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCAAAAAGATCGTCCACCACC	0.423000										HNSCC(10;0.0054)				36			25		0	0	0.007291	0	0
SKIL	6498	broad.mit.edu	37	3	170108192	170108192	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:170108192T>C	uc003fgu.3	+	4	2323	c.1611T>C	c.(1609-1611)acT>acC	p.T537T	SKIL_uc011bps.2_Silent_p.T517T|SKIL_uc003fgv.3_Silent_p.T491T|SKIL_uc003fgw.3_Silent_p.T537T	NM_005414	NP_005405	P12757	SKIL_HUMAN	Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA.	537					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	PML body|cytoplasm	SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|transcription corepressor activity|transcription repressor activity	p.R536I(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TAATGAGAACTTATTTAAAAC	0.343000														20			23		0	0	0.003954	0	0
ACP6	51205	broad.mit.edu	37	1	147122015	147122015	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:147122015G>A	uc001epr.2	-	7	1372	c.908C>T	c.(907-909)cCa>cTa	p.P303L	ACP6_uc009wjj.1_3'UTR	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.	303					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					GTGGAGGAATGGGCCTACTGC	0.537000														27			17		0	0	0.004990	0	0
CCNA1	8900	broad.mit.edu	37	13	37016791	37016791	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:37016791C>T	uc001uvr.4	+	8	1737	c.1387C>T	c.(1387-1389)Ctt>Ttt	p.L463F	CCNA1_uc010teo.2_Missense_Mutation_p.L419F|CCNA1_uc010abq.3_Missense_Mutation_p.L419F|CCNA1_uc010abp.3_Missense_Mutation_p.L419F|CCNA1_uc001uvs.4_Missense_Mutation_p.L462F|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	463					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TGCAGTTCTTCTTCTACAATA	0.443000														33			6		0	0	0.001168	0	0
SDK1	221935	broad.mit.edu	37	7	4304908	4304908	+	Silent	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:4304908G>T	uc003smx.3	+	44	6673	c.6534G>T	c.(6532-6534)gcG>gcT	p.A2178A	SDK1_uc010kso.3_Silent_p.A1434A|SDK1_uc003smy.3_Intron|SDK1_uc003smz.3_Silent_p.A238A	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	2178					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCTCCGAGGCGGGCGCGCAGC	0.721000														12			10		3.07112e-06	3.36407e-06	0.000978	1	0
TTN	7273	broad.mit.edu	37	2	179404821	179404821	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179404821C>T	uc021vsy.1	-	299	90593	c.90368G>A	c.(90367-90369)gGa>gAa	p.G30123E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G23818E|TTN_uc021vta.1_Missense_Mutation_p.G23751E|TTN_uc021vtb.1_Missense_Mutation_p.G23626E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31050	Fibronectin type-III 119.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGACTGTTCCTGGTACCTC	0.468000														96			24		0	0	0.003954	0	0
CCDC88C	440193	broad.mit.edu	37	14	91749831	91749831	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:91749831G>A	uc010aty.3	-	25	4626	c.4472C>T	c.(4471-4473)tCc>tTc	p.S1491F	CCDC88C_uc001xzj.3_Missense_Mutation_p.S15F|CCDC88C_uc001xzi.3_5'UTR	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1491					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCTGTGTGGGGAGCCTCGCTT	0.602000														8			5		0	0	0.001984	0	0
C11orf42	160298	broad.mit.edu	37	11	6232201	6232201	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:6232201G>A	uc001mcj.3	+	2	979	c.931G>A	c.(931-933)Gac>Aac	p.D311N		NM_173525	NP_775796	Q8N5U0	CK042_HUMAN	Homo sapiens chromosome 11 open reading frame 42 (C11orf42), mRNA.	311	Pro-rich.									endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCCCCAGGGACCCCGACGG	0.632000														20			9		0	0	0.008291	0	0
MYO3B	140469	broad.mit.edu	37	2	171358335	171358335	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:171358335A>G	uc002ufy.3	+	27	3473	c.3330A>G	c.(3328-3330)atA>atG	p.I1110M	MYO3B_uc002ufv.3_Missense_Mutation_p.I1097M|MYO3B_uc010fqb.1_Missense_Mutation_p.I1110M|MYO3B_uc002ufz.3_Intron|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Intron|MYO3B_uc002ugb.3_Intron	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	1110	IQ 2.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TTAAGAAAATAAGCAACAGAA	0.358000														25			7		0	0	0.006214	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806870	97806870	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:97806870C>T	uc011bgs.2	+	0	854	c.854C>T	c.(853-855)cCc>cTc	p.P285L		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I284F(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATTATAATTCCCCTGCTAAAC	0.373000														28			8		0	0	0.003080	0	0
MST1P2	11209	broad.mit.edu	37	1	16974216	16974216	+	RNA	SNP	G	C	C	rs140637426		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:16974216G>C	uc009vow.2	+	4		c.1026G>C			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		AGGCGGGTTTGGTCCCAGCCC	0.662000														9			3		0	0	0.004672	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524783	26524783	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:26524783T>C	uc010oez.2	+	5	685	c.685T>C	c.(685-687)Tcc>Ccc	p.S229P	CATSPER4_uc010oey.1_Missense_Mutation_p.S51P|CATSPER4_uc009vsf.3_Intron	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	229					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	p.S229S(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGGTTTTTTCCGTGTTTGG	0.493000														270			133		0	0	0.003610	0	0
KLHL38	340359	broad.mit.edu	37	8	124664648	124664648	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:124664648C>T	uc003yqs.1	-	0	543	c.519G>A	c.(517-519)aaG>aaA	p.K173K		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	173	BACK.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CACAGAGCTCCTTCAGGTCGG	0.557000														48			30		0	0	0.004289	0	0
MNDA	4332	broad.mit.edu	37	1	158813786	158813786	+	Silent	SNP	G	A	A	rs140332455		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158813786G>A	uc001fsz.1	+	3	644	c.444G>A	c.(442-444)agG>agA	p.R148R		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	148					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.R148R(2)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAGCCAAAAGGAATAAGGTGT	0.443000														43			21		0	0	0.002780	0	0
COL5A2	1290	broad.mit.edu	37	2	189904202	189904202	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:189904202C>T	uc002uqk.3	-	50	3996	c.3721G>A	c.(3721-3723)Gat>Aat	p.D1241N	COL5A2_uc010frx.3_Missense_Mutation_p.D817N	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1241					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.D1241N(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATGCTTTCATCATAGTGCCCC	0.547000														24			7		0	0	0.001984	0	0
COL1A2	1278	broad.mit.edu	37	7	94049955	94049955	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:94049955C>T	uc003ung.1	+	36	2761	c.2290C>T	c.(2290-2292)Cca>Tca	p.P764S	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	764			Missing (in OI2A).		Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AGCTGCTGGCCCAGCTGTAAG	0.507000										HNSCC(75;0.22)				4			10		0	0	0.008291	0	0
PANX1	24145	broad.mit.edu	37	11	93911600	93911600	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:93911600C>T	uc001per.3	+	2	772	c.387C>T	c.(385-387)ttC>ttT	p.F129F	PANX1_uc001peq.3_Silent_p.F129F	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	Homo sapiens pannexin 1 (PANX1), mRNA.	129					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCTGGCGTTTCGCAGCTGCTC	0.468000														28			29		0	0	0.002445	0	0
CFHR2	3080	broad.mit.edu	37	1	196928152	196928152	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196928152C>T	uc001gtq.1	+	4	832	c.755C>T	c.(754-756)tCa>tTa	p.S252L	CFHR2_uc001gtr.1_Missense_Mutation_p.S128L	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	252	Sushi 4.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AAATCTCATTCATTTCGAGCA	0.323000														34			15		0	0	0.006122	0	0
A1CF	29974	broad.mit.edu	37	10	52573619	52573620	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:52573619_52573620GG>AA	uc001jjj.3	-	9	1532_1533	c.1344_1345CC>TT	c.(1342-1347)ccccag>ccTTag	p.Q449*	A1CF_uc010qho.2_Nonsense_Mutation_p.Q457*|A1CF_uc010qhn.2_Nonsense_Mutation_p.Q449*|A1CF_uc009xov.3_Nonsense_Mutation_p.Q441*|A1CF_uc001jji.3_Nonsense_Mutation_p.Q441*|A1CF_uc001jjh.3_Nonsense_Mutation_p.Q449*	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	449					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTACCTACCTGGGGAGCGAGTT	0.391000														48			17		0	0	0.004672	0	0
ZNF208	7757	broad.mit.edu	37	19	22154154	22154154	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:22154154C>T	uc021urr.1	-	3	3831	c.3682G>A	c.(3682-3684)Gaa>Aaa	p.E1228K	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCACATTCTTCACATTTGTAG	0.393000														32			7		0	0	0.003080	0	0
CAPN13	92291	broad.mit.edu	37	2	30976012	30976012	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:30976012C>T	uc021vfn.1	-	8	1026	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	CAPN13_uc021vfm.1_Missense_Mutation_p.E332K|CAPN13_uc002rnp.1_Missense_Mutation_p.E332K	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	332	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					ATTGGAATTTCGCTACATATA	0.423000														115			22		0	0	0.003954	0	0
OSTN	344901	broad.mit.edu	37	3	190967849	190967849	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:190967849G>A	uc011bsn.2	+	2	341	c.341G>A	c.(340-342)aGg>aAg	p.R114K		NM_198184	NP_937827	P61366	OSTN_HUMAN	Homo sapiens osteocrin (OSTN), mRNA.	114					cell differentiation|multicellular organismal development|ossification		hormone activity			kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		CATCCAAAAAGGCGATTTGGT	0.343000														60			16		0	0	0.004990	0	0
CARD11	84433	broad.mit.edu	37	7	2976698	2976698	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:2976698G>A	uc003smv.3	-	8	1648	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	438					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGTCCTTGGAGAGGCGCCGCA	0.662000			Mis		DLBCL									34			13		0	0	0.001855	0	0
SCN7A	6332	broad.mit.edu	37	2	167322339	167322339	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:167322339C>T	uc002udu.2	-	6	953	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	275					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GTTTCATTTTCATTCTCTTGG	0.373000														75			11		0	0	0.001855	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010864	59010864	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:59010864G>A	uc002qtc.2	-	6	1772	c.1662C>T	c.(1660-1662)acC>acT	p.T554T	SLC27A5_uc002qtb.3_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA.	554					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.T554I(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CGGACCGGAAGGTGTCCCCGA	0.657000														43			22		0	0	0.002299	0	0
PSG11	5680	broad.mit.edu	37	19	43528851	43528851	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:43528851G>A	uc002ovm.1	-	1	529	c.422C>T	c.(421-423)aCc>aTc	p.T141I	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Intron|PSG11_uc002ovo.1_Intron	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	141	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				ACGGTATAAGGTGAAGGTGAA	0.507000														91			49		0	0	0.003610	0	0
CNTN6	27255	broad.mit.edu	37	3	1415662	1415662	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:1415662C>T	uc003boz.3	+	15	2267	c.2000C>T	c.(1999-2001)cCt>cTt	p.P667L	CNTN6_uc011asj.2_Missense_Mutation_p.P595L|CNTN6_uc003bpa.3_Missense_Mutation_p.P667L	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	667	Fibronectin type-III 1.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGTTTGAGTCCTTGGGTGGAA	0.408000														28			17		0	0	0.007413	0	0
LILRA1	11024	broad.mit.edu	37	19	55106129	55106129	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55106129G>A	uc002qgh.1	+	4	253	c.71_splice	c.e4-1	p.G24_splice	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Splice_Site_p.G24_splice	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	24					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)		TTTCCTTCCAGGGACCCTCCC	0.582000														51			21		0	0	0.002299	0	0
PLCE1	51196	broad.mit.edu	37	10	95791266	95791266	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:95791266G>A	uc001kjk.3	+	1	1097	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	PLCE1_uc010qnx.2_Missense_Mutation_p.E155K	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	155					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AATTCAACTGGAACTAGACAG	0.433000														42			21		0	0	0.001882	0	0
SLC26A5	375611	broad.mit.edu	37	7	103018973	103018973	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:103018973C>T	uc003vbz.3	-	16	1967	c.1705G>A	c.(1705-1707)Gga>Aga	p.G569R	SLC26A5_uc003vbt.2_Missense_Mutation_p.G569R|SLC26A5_uc003vbu.2_Intron|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Intron|SLC26A5_uc003vbx.3_Missense_Mutation_p.G537R	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	569	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CTCCTTGCTCCCATGATGACT	0.493000														71			30		0	0	0.003271	0	0
CDC14C	168448	broad.mit.edu	37	7	48964344	48964344	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:48964344C>T	uc010kyv.1	+	0	188	c.76C>T	c.(76-78)Ctt>Ttt	p.L26F						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		CACCGATCGCCTTCGTTTTGC	0.517000														28			13		0	0	0.004007	0	0
STAT5B	6777	broad.mit.edu	37	17	40384045	40384045	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:40384045A>G	uc002hzh.3	-	1	270	c.101T>C	c.(100-102)tTa>tCa	p.L34S	STAT5B_uc002hzi.3_Missense_Mutation_p.L34S	NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	34					2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CCACTGGGATAAATAATGCCG	0.428000														16			27		0	0	0.008361	0	0
CACNA1E	777	broad.mit.edu	37	1	181705431	181705431	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:181705431G>A	uc009wxt.3	+	21	3478	c.3283G>A	c.(3283-3285)Gaa>Aaa	p.E1095K	CACNA1E_uc001gow.3_Missense_Mutation_p.E1095K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E1076K|CACNA1E_uc001gox.1_Missense_Mutation_p.E321K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1095					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						GACGGATGGGGAAGCCAGTCC	0.483000														9			3		0	0	0.004672	0	0
DNAH6	1768	broad.mit.edu	37	2	84811170	84811170	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:84811170G>A	uc010fgb.3	+	14	2414	c.2277G>A	c.(2275-2277)aaG>aaA	p.K759K	DNAH6_uc002soo.3_Silent_p.K338K|DNAH6_uc002sop.3_Silent_p.K338K	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	759	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AAATGTACAAGCTTATGGAAC	0.383000														46			24		0	0	0.002780	0	0
HTR2A	3356	broad.mit.edu	37	13	47409694	47409694	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:47409694C>T	uc010acr.3	-	3	1383	c.694G>A	c.(694-696)Gat>Aat	p.D232N	HTR2A_uc001vbr.3_Missense_Mutation_p.D148N	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	232					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	p.D232Y(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ACAAAGTTATCATCGGCGAGT	0.433000														22			13		0	0	0.003163	0	0
KCNG4	93107	broad.mit.edu	37	16	84255835	84255835	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:84255835G>A	uc010voc.2	-	2	1669	c.1548C>T	c.(1546-1548)atC>atT	p.I516I		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	516						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						ACATGTGCATGATAGGCAAGG	0.542000														108			37		0	0	0.009718	0	0
ACAN	176	broad.mit.edu	37	15	89400292	89400292	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:89400292T>C	uc010upo.1	+	11	4850	c.4476T>C	c.(4474-4476)tcT>tcC	p.S1492S	ACAN_uc010upp.1_Silent_p.S1492S|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1492					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCTTCCTTCTGGAGAGGTTG	0.507000														34			16		0	0	0.004007	0	0
PARD3	56288	broad.mit.edu	37	10	34759087	34759087	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:34759087G>A	uc010qej.2	-	3	838	c.508C>T	c.(508-510)Ccc>Tcc	p.P170S	PARD3_uc010qep.2_Missense_Mutation_p.P170S|PARD3_uc010qeq.2_Missense_Mutation_p.P170S|PARD3_uc010qek.2_Missense_Mutation_p.P170S|PARD3_uc010qel.2_Missense_Mutation_p.P170S|PARD3_uc010qem.2_Missense_Mutation_p.P170S|PARD3_uc010qen.2_Missense_Mutation_p.P170S|PARD3_uc010qeo.2_Missense_Mutation_p.P170S|PARD3_uc001ixr.2_Missense_Mutation_p.P170S|PARD3_uc001ixq.2_Missense_Mutation_p.P170S|PARD3_uc001ixp.2_Missense_Mutation_p.P170S|PARD3_uc001ixt.1_Missense_Mutation_p.P35S|PARD3_uc001ixu.2_Missense_Mutation_p.P170S	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	170					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CAGCGTGTGGGATTTTTCCTT	0.498000														44			10		0	0	0.000978	0	0
PTPRD	5789	broad.mit.edu	37	9	8517893	8517893	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:8517893C>T	uc003zkk.3	-	20	2241	c.1498G>A	c.(1498-1500)Gat>Aat	p.D500N	PTPRD_uc003zkp.3_Missense_Mutation_p.D500N|PTPRD_uc003zkq.3_Missense_Mutation_p.D500N|PTPRD_uc003zkr.3_Missense_Mutation_p.D494N|PTPRD_uc003zks.3_Missense_Mutation_p.D490N|PTPRD_uc022bdj.1_Missense_Mutation_p.D497N	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	500	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G499V(1)|p.G499*(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGGGGACCATCTCCAATTGAG	0.463000										TSP Lung(15;0.13)				26			13		0	0	0.001368	0	0
CADPS2	93664	broad.mit.edu	37	7	122221237	122221237	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:122221237C>T	uc022akp.1	-	6	1753	c.1331G>A	c.(1330-1332)gGa>gAa	p.G444E	CADPS2_uc003vkg.4_Missense_Mutation_p.G144E|CADPS2_uc022akq.1_Missense_Mutation_p.G444E|CADPS2_uc010lkq.3_Missense_Mutation_p.G444E|CADPS2_uc022akr.1_Missense_Mutation_p.G444E	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	444	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ACTCACCCTTCCCAGTTCTTT	0.453000														55			38		0	0	0.009718	0	0
TMEM39A	55254	broad.mit.edu	37	3	119165876	119165876	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:119165876G>A	uc003eck.1	-	4	927	c.564C>T	c.(562-564)ttC>ttT	p.F188F	TMEM39A_uc003ecl.1_Silent_p.F36F	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	Homo sapiens transmembrane protein 39A (TMEM39A), mRNA.	188						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		GGTAGCCAAGGAAAAGGAGAT	0.393000														17			4		0	0	0.009096	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161022330	161022330	+	Silent	SNP	C	T	T	rs150654338		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:161022330C>T	uc001fxl.3	-	7	1186	c.840G>A	c.(838-840)agG>agA	p.R280R	ARHGAP30_uc001fxk.3_Silent_p.R280R|ARHGAP30_uc001fxm.3_Silent_p.R126R|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Silent_p.R126R	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	280					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)			AAGACCCCTTCCTCCTACAAA	0.537000														67			57		0	0	0.003610	0	0
DEGS2	123099	broad.mit.edu	37	14	100615378	100615378	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:100615378C>T	uc001ygx.2	-	1	840	c.752G>A	c.(751-753)tGg>tAg	p.W251*		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	Homo sapiens delta(4)-desaturase, sphingolipid 2 (DEGS2), mRNA.	251					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GAAGGTGATCCAGTTGAGAGG	0.632000														96			19		0	0	0.007413	0	0
AK7	122481	broad.mit.edu	37	14	96949428	96949428	+	Missense_Mutation	SNP	G	A	A	rs115365090	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:96949428G>A	uc001yfn.2	+	15	1890	c.1846G>A	c.(1846-1848)Gaa>Aaa	p.E616K		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	616	Glu-rich.				cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TTTAACAGACGAAGAAAAGGC	0.512000														44			25		0	0	0.003954	0	0
C1orf129	80133	broad.mit.edu	37	1	170964595	170964596	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:170964595_170964596CC>TT	uc010plz.2	+	12	1414_1415	c.1260_1261CC>TT	c.(1258-1263)ttcccc>ttTTcc	p.P421S	C1orf129_uc001ghg.3_Missense_Mutation_p.P421S|C1orf129_uc009wvy.3_Missense_Mutation_p.P228S	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	421							binding	p.P421S(3)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCCAGTATTTCCCCCAGCTCTT	0.470000														52			29		0	0	0.004672	0	0
TRIM5	85363	broad.mit.edu	37	11	5686228	5686228	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5686228C>T	uc001mbm.2	-	7	1596	c.1293G>A	c.(1291-1293)gtG>gtA	p.V431V	TRIM6-TRIM34_uc009yer.3_Intron|TRIM5_uc001mbl.2_Non-coding_Transcript|TRIM5_uc001mbn.3_Intron|TRIM5_uc001mbp.3_3'UTR	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	Homo sapiens tripartite motif containing 5 (TRIM5), transcript variant alpha, mRNA.	431	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GACAAATAATCACAGAGAGGG	0.408000														25			8		0	0	0.003080	0	0
AP3B1	8546	broad.mit.edu	37	5	77423960	77423960	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:77423960G>T	uc003kfj.3	-	16	1987	c.1862C>A	c.(1861-1863)aCc>aAc	p.T621N		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	621					endocytosis|melanosome organization	Golgi apparatus|clathrin coated vesicle membrane|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATGAGATAAGGTGCCAAGCTG	0.363000									Hermansky-Pudlak syndrome					11			7		1.06961e-07	1.17384e-07	0.003080	1	0
ZFHX4	79776	broad.mit.edu	37	8	77768521	77768521	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:77768521C>T	uc003yau.2	+	9	9751	c.9364C>T	c.(9364-9366)Cca>Tca	p.P3122S	ZFHX4_uc003yaw.1_Missense_Mutation_p.P3077S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3077	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P3106S(1)		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)			GCCGGGATTTCCACAAAATTC	0.512000										HNSCC(33;0.089)				21			6		0	0	0.003080	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538404	27538404	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:27538404G>A	uc001its.2	-	0	2832	c.989C>T	c.(988-990)cCt>cTt	p.P330L						Homo sapiens leucine rich repeat containing 37, member A family pseudogene (LOC387646), non-coding RNA.																		CAAATCCAAAGGTTGAACTGT	0.502000														96			24		0	0	0.003954	0	0
NOMO1	23420	broad.mit.edu	37	16	14968912	14968912	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:14968912C>T	uc002dcv.3	+	18	2140	c.2074C>T	c.(2074-2076)Ccc>Tcc	p.P692S	Mir_548_uc021tdj.1_5'Flank	NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	692						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CGACAGTGAACCCGCCTTGGT	0.557000														49			27		0	0	0.008361	0	0
DCAF15	90379	broad.mit.edu	37	19	14071304	14071304	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:14071304G>A	uc002mxt.3	+	11	1665	c.1659G>A	c.(1657-1659)aaG>aaA	p.K553K	DCAF15_uc002mxu.3_Non-coding_Transcript	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 15 (DCAF15), mRNA.	553										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						CCTACCGCAAGAGCTGCGTGG	0.677000											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			6		0	0	0.003080	0	0
abParts	0	broad.mit.edu	37	2	90121860	90121860	+	RNA	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:90121860G>A	uc010yts.2	+	28		c.3000G>A								Parts of antibodies, mostly variable regions.																		ACATCCAGATGACCCAGTCTC	0.443000														183			27		0	0	0.009535	0	0
NLRC4	58484	broad.mit.edu	37	2	32476179	32476179	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:32476179C>T	uc002roi.3	-	3	1015	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	NLRC4_uc021vfq.1_Missense_Mutation_p.E252K|NLRC4_uc002roj.2_Missense_Mutation_p.E252K|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	252	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGCTTGAATTCATTGTAGCCA	0.498000														68			37		0	0	0.006999	0	0
SEC62	7095	broad.mit.edu	37	3	169700524	169700524	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:169700524C>T	uc003fgg.3	+	3	312	c.281C>T	c.(280-282)gCc>gTc	p.A94V	SEC62_uc003fgh.3_Missense_Mutation_p.A94V	NM_003262	NP_003253	Q99442	SEC62_HUMAN	Homo sapiens SEC62 homolog (S. cerevisiae) (SEC62), mRNA.	94					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						TTTCACCGAGCCCTAAAAGTA	0.323000														66			8		0	0	0.003080	0	0
CNTRL	11064	broad.mit.edu	37	9	123935993	123935993	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:123935993G>T	uc004bkx.1	+	39	6756	c.6725G>T	c.(6724-6726)cGt>cTt	p.R2242L	CNTRL_uc004blb.1_Missense_Mutation_p.R911L|CNTRL_uc010mvp.1_Missense_Mutation_p.R192L	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	2242	Sufficient for interaction with HOOK2.				G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GAGAAACTGCGTCACCGGGAA	0.468000														108			13		0.000151284	0.000165344	0.001855	1	0
MUC16	94025	broad.mit.edu	37	19	9072320	9072320	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9072320G>A	uc002mkp.3	-	2	15330	c.15126C>T	c.(15124-15126)tcC>tcT	p.S5042S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5044	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						AGGACAGAAAGGAAGAGGGGG	0.478000														30			11		0	0	0.000978	0	0
SLC9C2	284525	broad.mit.edu	37	1	173567081	173567081	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:173567081C>T	uc001giz.2	-	3	742	c.319G>A	c.(319-321)Gat>Aat	p.D107N	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	107					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AATTCTACATCCAAAGCAACC	0.308000														64			21		0	0	0.001882	0	0
ASXL3	80816	broad.mit.edu	37	18	31326339	31326339	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:31326339G>A	uc010dmg.1	+	11	6582	c.6527G>A	c.(6526-6528)gGg>gAg	p.G2176E	ASXL3_uc002kxq.2_Missense_Mutation_p.G1883E	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	2176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAGTCCATTGGGATTTTGGGA	0.483000														78			31		0	0	0.003755	0	0
KIAA0564	23078	broad.mit.edu	37	13	42407593	42407593	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:42407593G>A	uc001uyj.3	-	12	1570	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P	KIAA0564_uc001uyk.3_Silent_p.P500P	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	500						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		CATTCACAAGGGGTGAGGACC	0.542000														25			5		0	0	0.000602	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576787	33576787	+	Missense_Mutation	SNP	G	A	A	rs149776016	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:33576787G>A	uc003jia.1	-	18	3507	c.3344C>T	c.(3343-3345)tCg>tTg	p.S1115L	ADAMTS12_uc010iuq.1_Missense_Mutation_p.S1030L	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1115	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCCTCCCTCCGAGGTAGGACC	0.493000										HNSCC(64;0.19)				27			16		0	0	0.004007	0	0
C18orf34	374864	broad.mit.edu	37	18	30928858	30928858	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:30928858C>T	uc010xbr.1	-	6	595	c.453G>A	c.(451-453)aaG>aaA	p.K151K	C18orf34_uc002kxn.2_Silent_p.K151K|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Silent_p.K151K|C18orf34_uc002kxp.3_Silent_p.K151K	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	151										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						CTTTACCTCTCTTTTCTCCTG	0.333000														19			11		0	0	0.001368	0	0
LRP6	4040	broad.mit.edu	37	12	12279721	12279721	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:12279721C>A	uc001rah.4	-	19	4358	c.4216G>T	c.(4216-4218)Ggg>Tgg	p.G1406W	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.G1361W	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1406					Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ATAGTTTCCCCATCTCCCTTC	0.438000														146			231		1.65138e-85	1.82809e-85	0.003610	1	0
ADCY7	113	broad.mit.edu	37	16	50325802	50325802	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:50325802G>A	uc002egd.1	+	2	799	c.531G>A	c.(529-531)ggG>ggA	p.G177G	ADCY7_uc002egb.1_Silent_p.G177G|ADCY7_uc002egc.2_Silent_p.G177G	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	177					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TCCGGGTGGGGCTGCAGGTGA	0.662000														26			11		0	0	0.001368	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21331569	21331569	+	Missense_Mutation	SNP	C	T	T	rs138965366		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:21331569C>T	uc001req.4	+	5	645	c.541C>T	c.(541-543)Cgt>Tgt	p.R181C		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	181					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.R181C(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TAATATGCTTCGTGGAATAGG	0.348000														42			21		0	0	0.002780	0	0
PHLDB1	23187	broad.mit.edu	37	11	118513099	118513099	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:118513099C>T	uc001ptr.2	+	13	3217	c.2864C>T	c.(2863-2865)tCc>tTc	p.S955F	PHLDB1_uc001pts.3_Missense_Mutation_p.S955F|PHLDB1_uc001ptt.3_Intron|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Missense_Mutation_p.S755F|PHLDB1_uc001ptw.2_Intron|PHLDB1_uc009zai.2_Intron|PHLDB1_uc001ptx.2_Intron|PHLDB1_uc010ryi.1_Missense_Mutation_p.S98F|PHLDB1_uc010ryj.1_Missense_Mutation_p.S93F	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	955										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GCCAAAGCTTCCCGTCAGCTG	0.637000														36			25		0	0	0.006320	0	0
ABCA12	26154	broad.mit.edu	37	2	215843674	215843674	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:215843674C>T	uc002vew.3	-	31	5051	c.4831G>A	c.(4831-4833)Gat>Aat	p.D1611N	ABCA12_uc002vev.3_Missense_Mutation_p.D1293N|ABCA12_uc010zjn.2_Missense_Mutation_p.D538N	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1611					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)		CCCCCAATATCCTCCTTGAGG	0.493000														37			14		0	0	0.002450	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228816	57228816	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:57228816G>A	uc010lyk.1	-	1	729	c.91C>T	c.(91-93)Ctc>Ttc	p.L31F	SDR16C5_uc003xsy.1_Missense_Mutation_p.L31F|SDR16C5_uc010lyl.1_Missense_Mutation_p.L31F	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	31					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	p.L31F(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GGCTTTGGGAGTAAGGCAAAA	0.468000														31			12		0	0	0.001368	0	0
BPIFB1	92747	broad.mit.edu	37	20	31878781	31878781	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:31878781C>T	uc002wyw.1	+	4	545	c.384C>T	c.(382-384)atC>atT	p.I128I	BPIFB1_uc010gej.1_Silent_p.I128I	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	128						extracellular space	lipid binding										TCAAGACCATCGTGGAGTTCC	0.642000														17			8		0	0	0.003080	0	0
LOC283867	283867	broad.mit.edu	37	16	65345409	65345409	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:65345409C>T	uc010cdo.1	-	4		c.387G>A			LOC283867_uc010cdp.1_Intron|LOC283867_uc002eol.1_Non-coding_Transcript					Homo sapiens uncharacterized LOC283867 (LOC283867), non-coding RNA.																OV - Ovarian serous cystadenocarcinoma(108;0.17)		ATGAACACTTCCTGCATGTGC	0.483000														129			34		0	0	0.004289	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24251645	24251645	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:24251645G>A	uc003xdz.2	+	3	568	c.348G>A	c.(346-348)acG>acA	p.T116T	ADAMDEC1_uc010lub.2_Silent_p.T37T|ADAMDEC1_uc011lab.1_Silent_p.T37T	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	116					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AAATTACCACGAAACCTGAGA	0.458000														16			17		0	0	0.007413	0	0
OR10S1	219873	broad.mit.edu	37	11	123848225	123848225	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:123848225G>A	uc001pzm.1	-	0	174	c.174C>T	c.(172-174)atC>atT	p.I58I		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CAGTTAGGAGGATGAGGAGAT	0.527000														11			3		0	0	0.004672	0	0
MUC13	56667	broad.mit.edu	37	3	124642454	124642454	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:124642454G>A	uc003ehq.2	-	2	593	c.554C>T	c.(553-555)tCg>tTg	p.S185L		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	185	EGF-like 1.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AACACATAACGAATTATCTGC	0.383000														28			13		0	0	0.001855	0	0
CADPS	8618	broad.mit.edu	37	3	62631473	62631473	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:62631473G>A	uc003dll.2	-	5	1609	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C	CADPS_uc003dlm.2_Missense_Mutation_p.R417C|CADPS_uc003dln.2_Missense_Mutation_p.R417C|CADPS_uc021wzv.1_Missense_Mutation_p.R417C	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	417	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TATACGATGCGATTTGGAGCC	0.473000														97			36		0	0	0.007835	0	0
UNC5D	137970	broad.mit.edu	37	8	35606087	35606087	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:35606087C>T	uc003xjr.2	+	11	2137	c.1809C>T	c.(1807-1809)gtC>gtT	p.V603V	UNC5D_uc003xjs.2_Silent_p.V598V|UNC5D_uc003xju.2_Silent_p.V179V	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	603	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GTCCTGAAGTCACCTGTGGTC	0.478000														58			21		0	0	0.003330	0	0
GLRA3	8001	broad.mit.edu	37	4	175649825	175649825	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:175649825G>A	uc003ity.1	-	3	795	c.292C>T	c.(292-294)Cgt>Tgt	p.R98C	GLRA3_uc003itz.1_Missense_Mutation_p.R98C	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	98					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.R98C(2)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	CATTTCTGACGAAGAAAGATA	0.383000														29			22		0	0	0.002299	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274205	39274205	+	Silent	SNP	T	C	C	rs80322614		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:39274205T>C	uc002hvz.3	-	0	402	c.363A>G	c.(361-363)agA>agG	p.R121R		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R121K(5)|p.R121R(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agcactggggtctgcagcagc	0.647000														31			3		0	0	0.001168	0	0
HAS2	3037	broad.mit.edu	37	8	122626715	122626715	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:122626715G>A	uc003yph.2	-	3	1831	c.1293C>T	c.(1291-1293)atC>atT	p.I431I		NM_005328	NP_005319	Q92819	HAS2_HUMAN	Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.	431						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			AGACCATGACGATATTTCCTC	0.423000														82			30		0	0	0.009535	0	0
PLCB4	5332	broad.mit.edu	37	20	9416235	9416235	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:9416235G>A	uc021wam.1	+	24	2532	c.2517G>A	c.(2515-2517)aaG>aaA	p.K839K	PLCB4_uc010gbw.1_Silent_p.K839K|PLCB4_uc010gbx.3_Silent_p.K851K|PLCB4_uc021wal.1_Silent_p.K839K|PLCB4_uc002wnh.3_Silent_p.K686K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	839					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.K839N(2)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAGATCCAAAGAAATTTCTCT	0.363000														47			22		0	0	0.001882	0	0
OR52N4	390072	broad.mit.edu	37	11	5776644	5776645	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5776644_5776645GG>AT	uc001mbu.3	+	0	722_723	c.674_675GG>AT	c.(673-675)cgg>cAT	p.R225H	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L224R(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		ATGATTCTCCGGGCAGTGGTCA	0.490000														60			20		0	0	0.004672	0	0
KANK4	163782	broad.mit.edu	37	1	62739144	62739144	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:62739144C>T	uc001dah.4	-	2	2009	c.1632G>A	c.(1630-1632)ggG>ggA	p.G544G	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	544										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGTGCTCCTTCCCTGGGAGAT	0.617000														38			25		0	0	0.005443	0	0
SYT6	148281	broad.mit.edu	37	1	114640423	114640423	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:114640423C>T	uc021osa.1	-	5	1519	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	SYT6_uc021orz.1_Missense_Mutation_p.E396K|SYT6_uc001eev.3_Missense_Mutation_p.E396K|SYT6_uc001eeu.3_Missense_Mutation_p.E41K	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	481					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.E396K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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)		GCCAGCATCTCGTTCCAGTGG	0.572000														46			28		0	0	0.009535	0	0
OR6F1	343169	broad.mit.edu	37	1	247875181	247875181	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:247875181G>A	uc001idj.1	-	0	877	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293L(1)|p.R293H(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCCTTATTACGAAGCGTATAG	0.438000														85			10		0	0	0.001855	0	0
YTHDC1	91746	broad.mit.edu	37	4	69185861	69185861	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:69185861G>A	uc003hdx.3	-	11	2017	c.1664C>T	c.(1663-1665)cCt>cTt	p.P555L	YTHDC1_uc003hdy.3_Missense_Mutation_p.P537L	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	555	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						GTGAAACTCAGGGGGATAGTC	0.313000														14			21		0	0	0.006320	0	0
LALBA	3906	broad.mit.edu	37	12	48962868	48962868	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:48962868C>T	uc001rrt.3	-	1	315	c.289G>A	c.(289-291)Gac>Aac	p.D97N		NM_002289	NP_002280	P00709	LALBA_HUMAN	Homo sapiens lactalbumin, alpha- (LALBA), mRNA.	97					cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction	extracellular space	calcium ion binding|lactose synthase activity			large_intestine(1)|stomach(2)	3						TACTCACTGTCACAGGAGATG	0.483000														25			35		0	0	0.006999	0	0
FMO2	2327	broad.mit.edu	37	1	171168536	171168536	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:171168536C>T	uc001ghk.1	+	4	653	c.536C>T	c.(535-537)cCa>cTa	p.P179L	FMO2_uc010pmd.1_Intron	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	179					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)					TACAAGCATCCAGATGGATTT	0.478000														52			30		0	0	0.002836	0	0
DLEC1	9940	broad.mit.edu	37	3	38134316	38134316	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38134316G>A	uc003chp.1	+	10	1722	c.1701G>A	c.(1699-1701)gaG>gaA	p.E567E	DLEC1_uc003cho.1_Silent_p.E567E|DLEC1_uc010hgv.1_Silent_p.E567E|DLEC1_uc003chr.1_5'Flank|DLEC1_uc003chq.1_Intron	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	567					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAAAGGCAGAGCAGACCTTCA	0.572000														66			28		0	0	0.008361	0	0
GPR15	2838	broad.mit.edu	37	3	98251319	98251319	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:98251319G>A	uc011bgy.2	+	0	442	c.442G>A	c.(442-444)Gac>Aac	p.D148N		NM_005290	NP_005281	P49685	GPR15_HUMAN	Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.	148						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CAGAAGGACAGACTGTGCATA	0.522000														28			13		0	0	0.001368	0	0
KRTAP5-2	440021	broad.mit.edu	37	11	1619005	1619005	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:1619005T>C	uc001ltv.3	-	0	520	c.476A>G	c.(475-477)aAg>aGg	p.K159R	MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Silent_p.A35A|LOC338651_uc001ltt.1_Non-coding_Transcript	NM_001004325	NP_001004325	Q701N4	KRA52_HUMAN	Homo sapiens keratin associated protein 5-2 (KRTAP5-2), mRNA.	159	6 X 4 AA repeats of C-C-X-P.					keratin filament				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCAACAGGGCTTGCAGCAGCT	0.587000														75			21		0	0	0.010504	0	0
NTRK2	4915	broad.mit.edu	37	9	87339142	87339142	+	Missense_Mutation	SNP	G	A	A	rs67648204		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:87339142G>A	uc004aoa.1	+	9	1662	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	NTRK2_uc004anv.1_Missense_Mutation_p.E242K|NTRK2_uc004any.1_Missense_Mutation_p.E242K|NTRK2_uc004anz.1_Missense_Mutation_p.E242K|NTRK2_uc004aob.1_Missense_Mutation_p.E242K|NTRK2_uc011lsz.2_Missense_Mutation_p.E242K|NTRK2_uc011lta.2_Missense_Mutation_p.E242K|NTRK2_uc011ltb.1_Missense_Mutation_p.E86K	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	242	Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TTTGTAGAATGAAACAAGCCA	0.388000										TSP Lung(25;0.17)				22			19		0	0	0.010504	0	0
TRIM71	131405	broad.mit.edu	37	3	32927435	32927435	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:32927435G>A	uc003cff.3	+	2	1093	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	344					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						GCTGAGCATCGAGCAGGCCCA	0.498000														33			29		0	0	0.003755	0	0
OR10S1	219873	broad.mit.edu	37	11	123847434	123847434	+	Missense_Mutation	SNP	C	T	T	rs146618461		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:123847434C>T	uc001pzm.1	-	0	965	c.965G>A	c.(964-966)cGa>cAa	p.R322Q		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGTAGACTCTCGGAAGCTGCT	0.468000														23			17		0	0	0.004990	0	0
ZFP57	346171	broad.mit.edu	37	6	29640868	29640868	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:29640868C>T	uc011dlw.2	-	3	1171	c.1020G>A	c.(1018-1020)atG>atA	p.M340I		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	256					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GGTTCTGGGCCATAGGACCCT	0.557000														96			46		0	0	0.003610	0	0
FCER1A	2205	broad.mit.edu	37	1	159277696	159277696	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:159277696C>T	uc001ftq.3	+	5	845	c.748C>T	c.(748-750)Cct>Tct	p.P250S		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	250						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GAACCCACATCCTAAGCCAAA	0.383000														28			7		0	0	0.001984	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884334	228884334	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:228884334G>A	uc002vpq.2	-	6	1283	c.1236C>T	c.(1234-1236)tcC>tcT	p.S412S	SPHKAP_uc002vpp.2_Silent_p.S412S|SPHKAP_uc010zlx.1_Silent_p.S412S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	412						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGGGTAATGTGGACTGAGATT	0.438000														51			30		0	0	0.009535	0	0
BPIFA2	140683	broad.mit.edu	37	20	31761912	31761912	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:31761912G>A	uc002wyo.1	+	3	401	c.330G>A	c.(328-330)ctG>ctA	p.L110L		NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	Homo sapiens BPI fold containing family A, member 2 (BPIFA2), mRNA.	110						extracellular region	lipid binding										CCCTCATCCTGGATGTCAAAG	0.527000														41			19		0	0	0.002299	0	0
SLC35F4	341880	broad.mit.edu	37	14	58055999	58055999	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:58055999G>A	uc021rtp.1	-	2	568	c.519C>T	c.(517-519)ttC>ttT	p.F173F	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_Silent_p.F51F	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.									p.S173S(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AATAGACTGGGAAAAACATAA	0.348000														42			17		0	0	0.004007	0	0
WIZ	58525	broad.mit.edu	37	19	15535061	15535062	+	Silent	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15535061_15535062GG>AA	uc002nbc.3	-	6	2702_2703	c.2679_2680CC>TT	c.(2677-2682)tccctg>tcTTtg	p.893_894SL>SL	WIZ_uc002nba.4_Silent_p.760_761SL>SL|WIZ_uc002nbb.4_Silent_p.719_720SL>SL	NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	1576						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CGGGGCACCAGGGAGGGGACTG	0.663000														23			12		0	0	0.004672	0	0
USP6	9098	broad.mit.edu	37	17	5042816	5042816	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:5042816C>T	uc002gau.1	+	21	3575	c.1345C>T	c.(1345-1347)Ctg>Ttg	p.L449L	USP6_uc002gav.1_Silent_p.L449L|USP6_uc010ckz.1_Silent_p.L132L|DQ573130_uc002gbd.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	449					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTGGAGATTCCTGGAGTGGAA	0.617000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									25			26		0	0	0.009535	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885275	88885275	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:88885275C>T	uc003ydz.3	-	0	1022	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	309										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						ACATGACCTTCGTACTGTGTT	0.517000														34			12		0	0	0.001368	0	0
CCDC135	84229	broad.mit.edu	37	16	57738868	57738868	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:57738868G>A	uc002emi.3	+	5	869	c.780G>A	c.(778-780)caG>caA	p.Q260Q	CCDC135_uc002emj.3_Silent_p.Q260Q|CCDC135_uc002emk.3_Silent_p.Q195Q	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	260						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGTTTGAGCAGGAGCAAGAGG	0.562000														30			16		0	0	0.004007	0	0
CYP2C19	1557	broad.mit.edu	37	10	96522549	96522549	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:96522549C>T	uc010qnz.2	+	0	87	c.87C>T	c.(85-87)ctC>ctT	p.L29L	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Intron	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	29					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAGGAAAACTCCCTCCTGGCC	0.453000														51			18		0	0	0.004990	0	0
HERC2P2	400322	broad.mit.edu	37	15	23300012	23300012	+	RNA	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:23300012G>A	uc001yvq.2	-	3		c.1493C>T			HERC2P2_uc001yvo.4_Non-coding_Transcript|HERC2P2_uc001yvp.4_Non-coding_Transcript					Homo sapiens hect domain and RLD 2 pseudogene 2 (HERC2P2), non-coding RNA.																		GCTGCACCACGATCGGCAGAG	0.602000														8			8		0	0	0.003080	0	0
ACVR2A	92	broad.mit.edu	37	2	148653910	148653910	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:148653910C>T	uc002twg.3	+	2	365	c.96C>T	c.(94-96)ttC>ttT	p.F32F	ACVR2A_uc010zbn.2_Intron|ACVR2A_uc002twh.3_Silent_p.F32F	NM_001616	NP_001607	P27037	AVR2A_HUMAN	Homo sapiens activin A receptor, type IIA (ACVR2A), mRNA.	32					BMP signaling pathway|activin receptor signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		AGTGTCTTTTCTTTAATGCTA	0.343000														52			14		0	0	0.004990	0	0
UGT1A1	54658	broad.mit.edu	37	2	234622403	234622403	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:234622403C>T	uc002vuw.3	+	0	766	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Silent_p.L256L	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	255					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)	ATCTGTGTGGCTGTTCCGAGG	0.527000														74			42		0	0	0.002522	0	0
EPHA7	2045	broad.mit.edu	37	6	93965749	93965749	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:93965749C>T	uc003poe.3	-	12	2420	c.2179G>A	c.(2179-2181)Gat>Aat	p.D727N	EPHA7_uc003pof.3_Missense_Mutation_p.D722N|EPHA7_uc011eac.2_Missense_Mutation_p.D723N	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	727	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.H726N(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AATTGCCCATCATGTTTCTGC	0.393000														20			14		0	0	0.001855	0	0
CHST9	83539	broad.mit.edu	37	18	24496504	24496504	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:24496504C>T	uc002kwd.3	-	4	1280	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	CHST9-AS1_uc002kwb.2_Intron|CHST9-AS1_uc010xbm.2_Intron|CHST9_uc002kwe.3_Missense_Mutation_p.E351K|CHST9_uc021uij.1_Missense_Mutation_p.E266K	NM_001243848	NP_001230777	Q7L1S5	CHST9_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 (CHST9), transcript variant 2, mRNA.	351					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|extracellular region|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					CTGACCTTTTCCCAGTGAATG	0.393000														63			20		0	0	0.010504	0	0
STXBP5L	9515	broad.mit.edu	37	3	121126146	121126146	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:121126146G>A	uc003eec.4	+	23	2856	c.2716G>A	c.(2716-2718)Ggt>Agt	p.G906S	STXBP5L_uc011bji.2_Missense_Mutation_p.G882S	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	906					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GGACCGAATGGGTGGATTAAT	0.383000														26			14		0	0	0.001855	0	0
DNAH7	56171	broad.mit.edu	37	2	196749415	196749415	+	Missense_Mutation	SNP	C	T	T	rs13034775		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:196749415C>T	uc002utj.4	-	34	5758	c.5657G>A	c.(5656-5658)cGa>cAa	p.R1886Q		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1886			R -> Q (in dbSNP:rs13034775).		ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R1886R(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						AAACGTATTTCGAGTTCGATC	0.358000														41			11		0	0	0.002450	0	0
GABBR1	2550	broad.mit.edu	37	6	29571449	29571449	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:29571449C>T	uc003nmt.4	-	22	3093	c.2757G>A	c.(2755-2757)cgG>cgA	p.R919R	GABBR1_uc003nmp.4_Silent_p.R802R|GABBR1_uc003nms.4_Silent_p.R802R|GABBR1_uc003nmu.4_Silent_p.R857R|GABBR1_uc011dlr.2_Silent_p.R742R	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	919				Missing (in Ref. 7; CAA09031).	gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GGAGCTGCTGCCGAGACTGGA	0.632000														13			8		0	0	0.003080	0	0
FREM2	341640	broad.mit.edu	37	13	39343905	39343905	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:39343905C>T	uc001uwv.3	+	3	5910	c.5601C>T	c.(5599-5601)ttC>ttT	p.F1867F	FREM2_uc001uww.3_5'UTR	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1867					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCTTGGAATTCCCCACAGTCG	0.532000														26			18		0	0	0.008871	0	0
CLCA4	22802	broad.mit.edu	37	1	87040246	87040246	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:87040246G>A	uc009wcs.3	+	9	1535	c.1491G>A	c.(1489-1491)ctG>ctA	p.L497L	CLCA4_uc009wct.3_Silent_p.L260L|CLCA4_uc009wcu.3_Silent_p.L317L	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	497						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GATTAACACTGAATAGTAATG	0.348000														47			17		0	0	0.006122	0	0
EXT1	2131	broad.mit.edu	37	8	119122824	119122824	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:119122824A>T	uc003yok.1	-	0	1235	c.462T>A	c.(460-462)ttT>ttA	p.F154L		NM_000127	NP_000118	Q16394	EXT1_HUMAN	Homo sapiens exostosin 1 (EXT1), mRNA.	154					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GACTCAGGACAAAGAGGCACG	0.498000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses					68			46		0	0	0.002852	0	0
MUC16	94025	broad.mit.edu	37	19	9060940	9060940	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9060940G>A	uc002mkp.3	-	2	26710	c.26506C>T	c.(26506-26508)Cct>Tct	p.P8836S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8838	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						ACATCCTCAGGACCTCTGCTC	0.527000														63			35		0	0	0.004878	0	0
VCX	26609	broad.mit.edu	37	X	7811740	7811740	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:7811740G>A	uc004crz.3	+	2	523	c.304G>A	c.(304-306)Gac>Aac	p.D102N		NM_013452	NP_038480	Q9H320	VCX1_HUMAN	Homo sapiens variable charge, X-linked (VCX), mRNA.	102	Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GACCCAGCACGACCCCCTGAG	0.687000														44			51		0	0	0.003610	0	0
CMTM8	152189	broad.mit.edu	37	3	32409428	32409429	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:32409428_32409429CC>TT	uc003cex.3	+	2	680_681	c.386_387CC>TT	c.(385-387)tcc>tTT	p.S129F	CMTM8_uc010hfu.3_Missense_Mutation_p.S71F	NM_178868	NP_849199	Q8IZV2	CKLF8_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 8 (CMTM8), mRNA.	129	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						GATGCATCTTCCGTCTCCCCTG	0.589000														45			19		0	0	0.004672	0	0
NOD2	64127	broad.mit.edu	37	16	50733855	50733855	+	Missense_Mutation	SNP	C	T	T	rs144368009		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:50733855C>T	uc002egm.1	+	1	635	c.530C>T	c.(529-531)cCg>cTg	p.P177L	NOD2_uc010cbj.1_Missense_Mutation_p.P150L|NOD2_uc021tia.1_5'UTR|NOD2_uc010cbk.1_Missense_Mutation_p.P150L|NOD2_uc002egl.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	177	CARD 2.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ATCTTCACACCGTCCCAGAGG	0.542000														18			5		0	0	0.001168	0	0
STK39	27347	broad.mit.edu	37	2	168812061	168812061	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:168812061G>A	uc002uea.3	-	17	1743	c.1583C>T	c.(1582-1584)tCg>tTg	p.S528L		NM_013233	NP_037365	Q9UEW8	STK39_HUMAN	Homo sapiens serine threonine kinase 39 (STK39), mRNA.	528					response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						AGGAATCTCCGACCCATCACA	0.493000														8			3		0	0	0.009096	0	0
CDK13	8621	broad.mit.edu	37	7	40037178	40037178	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:40037178C>T	uc003thh.4	+	2	2239	c.1957C>T	c.(1957-1959)Cct>Tct	p.P653S	CDK13_uc003thi.4_Missense_Mutation_p.P653S|CDK13_uc011kbf.2_Missense_Mutation_p.P39S	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	653					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ACCGCTGCCCCCTGAGCTACC	0.398000														89			57		0	0	0.003610	0	0
LAMA3	3909	broad.mit.edu	37	18	21508698	21508698	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:21508698C>A	uc002kuq.3	+	63	8491	c.8405C>A	c.(8404-8406)cCc>cAc	p.P2802H	LAMA3_uc002kur.3_Missense_Mutation_p.P2746H|LAMA3_uc002kus.4_Missense_Mutation_p.P1193H|LAMA3_uc002kut.4_Missense_Mutation_p.P1137H	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2802	Laminin G-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTTTCAACCCAGTGGCATA	0.408000														43			12		0.00010058	0.000109948	0.001368	1	0
OR10C1	442194	broad.mit.edu	37	6	29408389	29408389	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:29408389C>T	uc011dlp.2	+	0	674	c.597C>T	c.(595-597)atC>atT	p.I199I	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGCAGATTATCCTGGCAACAG	0.577000														109			48		0	0	0.003610	0	0
PLK4	10733	broad.mit.edu	37	4	128811023	128811023	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:128811023C>T	uc003ifo.3	+	6	1736	c.1462C>T	c.(1462-1464)Cat>Tat	p.H488Y	PLK4_uc011cgs.2_Missense_Mutation_p.H456Y|PLK4_uc011cgt.2_Missense_Mutation_p.H447Y|U6_uc021xrr.1_5'Flank	NM_014264	NP_001177730	O00444	PLK4_HUMAN	Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.	488					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						TATTGTAGCTCATTTAAGAAA	0.363000														9			5		0	0	0.000602	0	0
DHRS3	9249	broad.mit.edu	37	1	12639399	12639399	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:12639399G>A	uc001auc.3	-	2	848	c.381C>T	c.(379-381)gtC>gtT	p.V127V	DHRS3_uc001aub.3_Silent_p.V42V|DHRS3_uc009vnm.3_Silent_p.V127V	NM_004753	NP_004744	O75911	DHRS3_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 3 (DHRS3), mRNA.	127					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)	TCTTCCCATGGACCACGGCGG	0.602000														34			27		0	0	0.006320	0	0
COL12A1	1303	broad.mit.edu	37	6	75828869	75828869	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:75828869A>G	uc021zbv.1	-	44	7279	c.7244T>C	c.(7243-7245)tTg>tCg	p.L2415S	COL12A1_uc021zbw.1_Missense_Mutation_p.L1251S|COL12A1_uc003phs.3_Missense_Mutation_p.L2415S|COL12A1_uc003pht.3_Missense_Mutation_p.L1251S	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2415	VWFA 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTCCCAAGTCAAGACTTTCTC	0.493000														38			24		0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179416711	179416711	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179416711C>T	uc021vsy.1	-	283	83437	c.83212G>A	c.(83212-83214)Gga>Aga	p.G27738R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G21433R|TTN_uc021vta.1_Missense_Mutation_p.G21366R|TTN_uc021vtb.1_Missense_Mutation_p.G21241R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28665	Fibronectin type-III 102.						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)			TGGCTGACTCCGTATCTGTTT	0.438000														51			16		0	0	0.003163	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39103800	39103800	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:39103800G>A	uc004abi.3	-	15	2716	c.2477C>T	c.(2476-2478)tCc>tTc	p.S826F	CNTNAP3_uc004abj.3_Missense_Mutation_p.S825F|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.S826F	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	826	Laminin G-like 3.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CACCCCGGAGGAAACTGTGGT	0.478000														26			8		0	0	0.000978	0	0
CHDH	55349	broad.mit.edu	37	3	53851977	53851977	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:53851977C>T	uc003dgz.3	-	8	2053	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	Homo sapiens choline dehydrogenase (CHDH), nuclear gene encoding mitochondrial protein, mRNA.	538					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CTGAGGTTTTCCACCCCGAGG	0.597000														72			33		0	0	0.003755	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439746	150439746	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:150439746G>A	uc022apw.1	+	5	1271	c.1131G>A	c.(1129-1131)ctG>ctA	p.L377L	GIMAP1-GIMAP5_uc003whr.2_Silent_p.L173L	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		ACTGCAGCCTGAAAGACCTGG	0.577000														74			49		0	0	0.003610	0	0
SYNE1	23345	broad.mit.edu	37	6	152804247	152804247	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:152804247C>T	uc021zhb.1	-	11	1546	c.1323G>A	c.(1321-1323)acG>acA	p.T441T	SYNE1_uc003qot.4_Silent_p.T448T|SYNE1_uc003qou.4_Silent_p.T441T|SYNE1_uc010kjb.1_Silent_p.T424T|SYNE1_uc003qpa.1_Silent_p.T441T|SYNE1_uc003qox.1_5'UTR	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	441					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCGTTGTATCGTGTTTGCTG	0.502000										HNSCC(10;0.0054)				162			60		0	0	0.003610	0	0
BIRC6	57448	broad.mit.edu	37	2	32726811	32726811	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:32726811A>T	uc010ezu.3	+	46	9197	c.9063A>T	c.(9061-9063)gaA>gaT	p.E3021D		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	3021					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.E2993D(1)|p.E3021D(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTAAACATGAAAACTTTCATG	0.398000														54			11		0	0	0.001368	0	0
PTPLAD2	401494	broad.mit.edu	37	9	21029392	21029392	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:21029392C>T	uc010miq.2	-	1	90	c.44G>A	c.(43-45)aGg>aAg	p.R15K	PTPLAD2_uc010mir.1_Missense_Mutation_p.R15K	NM_001010915	NP_001010915	Q5VWC8	HACD4_HUMAN	Homo sapiens protein tyrosine phosphatase-like A domain containing 2 (PTPLAD2), mRNA.	15					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		CGCATTCTTCCTATACCTATA	0.338000														87			17		0	0	0.007413	0	0
LRP2	4036	broad.mit.edu	37	2	169995847	169995847	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:169995847G>A	uc002ues.3	-	73	13515	c.13302C>T	c.(13300-13302)atC>atT	p.I4434I		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4434					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAATTACGACGATCAAGAGGA	0.507000														23			18		0	0	0.006122	0	0
MYCT1	80177	broad.mit.edu	37	6	153043382	153043382	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:153043382T>C	uc003qpc.4	+	1	710	c.702T>C	c.(700-702)gaT>gaC	p.D234D		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	234						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CATTCCCAGATTCCTGAGTAG	0.468000														77			7		0	0	0.003080	0	0
USP17L2	377630	broad.mit.edu	37	8	11995287	11995287	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:11995287C>T	uc003wvc.1	-	0	983	c.983G>A	c.(982-984)tGg>tAg	p.W328*	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	328					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GTGACAACTCCACCCAGCGTG	0.488000														29			6		0	0	0.001984	0	0
FLG2	388698	broad.mit.edu	37	1	152329585	152329585	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152329585C>T	uc001ezw.4	-	2	750	c.677G>A	c.(676-678)gGa>gAa	p.G226E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	226	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGATCCAGATCCAGATTCATA	0.443000														208			36		0	0	0.006230	0	0
BSCL2	26580	broad.mit.edu	37	11	62458112	62458112	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:62458112T>C	uc001nut.4	-	10	1814	c.1212A>G	c.(1210-1212)gaA>gaG	p.E404E	LRRN4CL_uc001nun.3_5'Flank|LRRN4CL_uc021qkm.1_5'Flank|BSCL2_uc001nup.3_Silent_p.E338E|BSCL2_uc009yoc.2_3'UTR|BSCL2_uc001nur.4_Silent_p.E402E|BSCL2_uc009yod.3_Silent_p.E402E|HNRNPUL2_uc001nuu.2_Non-coding_Transcript	NM_001122955	NP_001116427	Q96G97	BSCL2_HUMAN	Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 1, mRNA.	338					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						CTAGCTCCTCTTCTCCGCTCA	0.572000														115			22		0	0	0.003330	0	0
MDFI	4188	broad.mit.edu	37	6	41613884	41613884	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:41613884C>T	uc003oqq.4	+	2	304	c.97C>T	c.(97-99)Cct>Tct	p.P33S	MDFI_uc010jxn.3_Missense_Mutation_p.P33S	NM_005586	NP_005577	Q99750	MDFI_HUMAN	Homo sapiens MyoD family inhibitor (MDFI), mRNA.	33					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ATCCCTCCTTCCTGGGCTGGA	0.637000														59			9		0	0	0.008291	0	0
SERPINB7	8710	broad.mit.edu	37	18	61468132	61468132	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:61468132G>A	uc002ljl.3	+	6	726	c.630G>A	c.(628-630)caG>caA	p.Q210Q	SERPINB7_uc002ljm.3_Silent_p.Q210Q|SERPINB7_uc010xet.2_Silent_p.Q193Q|SERPINB7_uc010dqg.3_Silent_p.Q210Q	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	210					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TGATGCATCAGGAACGGAAGT	0.393000														53			26		0	0	0.008361	0	0
LRFN2	57497	broad.mit.edu	37	6	40400164	40400164	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:40400164G>A	uc003oph.1	-	1	1154	c.689C>T	c.(688-690)cCc>cTc	p.P230L		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	230						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)					TGGGGCAAAGGGTGTGGCTGT	0.592000														37			20		0	0	0.008871	0	0
PSG9	5678	broad.mit.edu	37	19	43762487	43762487	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:43762487C>T	uc002owd.4	-	4	1209	c.1110G>A	c.(1108-1110)ggG>ggA	p.G370G	PSG9_uc002owe.4_Silent_p.G277G|PSG9_uc010xwm.2_Silent_p.G277G|PSG9_uc002owf.4_Silent_p.G184G|PSG9_uc002owg.2_Silent_p.G277G	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	370	Ig-like C2-type 3.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GCTGAAACTTCCCATTAATTG	0.443000														145			70		0	0	0.003610	0	0
LPA	4018	broad.mit.edu	37	6	161007585	161007585	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:161007585C>T	uc003qtl.3	-	25	4145	c.4025G>A	c.(4024-4026)aGa>aAa	p.R1342K		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3850	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTACTCCCATCTGACACTGGG	0.502000														48			20		0	0	0.008871	0	0
HIVEP1	3096	broad.mit.edu	37	6	12163537	12163537	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:12163537C>T	uc003nac.3	+	8	7179	c.7000C>T	c.(7000-7002)Cct>Tct	p.P2334S	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	2334					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TGTAAGACTTCCTCCTGCTGC	0.468000														166			57		0	0	0.003610	0	0
CRB1	23418	broad.mit.edu	37	1	197326022	197326022	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:197326022C>T	uc001gtz.3	+	4	1259	c.1050C>T	c.(1048-1050)tcC>tcT	p.S350S	CRB1_uc010poz.2_Silent_p.S281S|CRB1_uc001gty.2_Silent_p.S350S|CRB1_uc009wza.3_Silent_p.S238S|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.S350S|CRB1_uc010ppc.1_Non-coding_Transcript	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	350	EGF-like 9.				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						CCTGCCAGTCCAATGGGGAAT	0.473000														36			20		0	0	0.007413	0	0
PPP6C	5537	broad.mit.edu	37	9	127915938	127915938	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:127915938C>T	uc010mwv.3	-	6	875	c.654G>A	c.(652-654)cgG>cgA	p.R218R	PPP6C_uc004bpg.4_Silent_p.R181R|PPP6C_uc010mww.3_Silent_p.R159R|PPP6C_uc011lzr.2_Silent_p.R34R	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	181					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTTCCTGATTCCGTTCGATGG	0.428000														20			9		0	0	0.004482	0	0
HDAC9	9734	broad.mit.edu	37	7	18624924	18624924	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:18624924C>T	uc003sui.3	+	1	84	c.43C>T	c.(43-45)Cct>Tct	p.P15S	HDAC9_uc003sue.3_Missense_Mutation_p.P15S|HDAC9_uc011jyd.2_Missense_Mutation_p.P15S|HDAC9_uc003suh.3_Missense_Mutation_p.P15S|HDAC9_uc003suj.3_Missense_Mutation_p.P15S|HDAC9_uc011jya.2_Missense_Mutation_p.P57S|HDAC9_uc003sua.1_Missense_Mutation_p.P34S|HDAC9_uc003sud.2_Missense_Mutation_p.P15S|HDAC9_uc011jyc.2_Missense_Mutation_p.P15S|HDAC9_uc011jyb.2_Missense_Mutation_p.P15S|HDAC9_uc003suf.2_Missense_Mutation_p.P43S|HDAC9_uc010kud.2_Missense_Mutation_p.P15S|HDAC9_uc011jye.2_5'UTR|HDAC9_uc011jyf.2_5'UTR	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	15					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GTCAGAAGTTCCTGTGGGCCT	0.478000														147			28		0	0	0.002445	0	0
PREP	5550	broad.mit.edu	37	6	105726130	105726130	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:105726130C>T	uc003prc.3	-	14	2255	c.2022G>A	c.(2020-2022)gtG>gtA	p.V674V		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	674					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CCTTGGTGTCCACGTGGATAA	0.597000														36			17		0	0	0.004007	0	0
MAP3K4	4216	broad.mit.edu	37	6	161529837	161529837	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:161529837C>T	uc003qtn.3	+	21	4324	c.4182C>T	c.(4180-4182)ttC>ttT	p.F1394F	MAP3K4_uc010kkc.1_Silent_p.F1390F|MAP3K4_uc003qto.3_Silent_p.F1344F|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Silent_p.F847F|MAP3K4_uc003qtp.3_Silent_p.F330F|MAP3K4_uc003qtq.3_Silent_p.F83F	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	1394	Protein kinase.				JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TGAAAATATTCGAAGGCATCA	0.423000														73			25		0	0	0.007291	0	0
DCTN3	11258	broad.mit.edu	37	9	34618712	34618712	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:34618712A>C	uc003zux.1	-	1	177	c.142T>G	c.(142-144)Tcc>Gcc	p.S48A	DCTN3_uc003zuw.1_Missense_Mutation_p.S48A	NM_007234	NP_009165	O75935	DCTN3_HUMAN	Homo sapiens dynactin 3 (p22) (DCTN3), transcript variant 1, mRNA.	48					G2/M transition of mitotic cell cycle|cytokinesis|mitosis	centrosome|cleavage furrow|condensed chromosome kinetochore|cytosol|dynactin complex|midbody|perinuclear region of cytoplasm|spindle	protein binding|structural molecule activity			large_intestine(1)|skin(1)	2	all_epithelial(49;0.0863)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0388)		CTCTTGCTGGAAATGTTCCCC	0.527000														30			14		0	0	0.004990	0	0
NUBP2	10101	broad.mit.edu	37	16	1836800	1836800	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:1836800C>T	uc002cmw.4	+	2	267	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C	NUBP2_uc002cmx.4_Intron	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN	Homo sapiens nucleotide binding protein 2 (NUBP2), mRNA.	60						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						CAGTATCCCCCGCATGCTCGG	0.701000														22			3		0	0	0.009096	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24253266	24253266	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:24253266G>A	uc003xdz.2	+	4	617	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	ADAMDEC1_uc010lub.2_Missense_Mutation_p.E54K|ADAMDEC1_uc011lab.1_Missense_Mutation_p.E54K	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	133					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.E133K(1)		NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CATCCTAAATGAAAAGAATTC	0.363000														30			8		0	0	0.006214	0	0
ROS1	6098	broad.mit.edu	37	6	117900091	117900091	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:117900091G>A	uc003pxu.3	-	1	676	c.422C>T	c.(421-423)gCt>gTt	p.A141V	ROS1_uc003pxv.3_Missense_Mutation_p.A141V|ROS1_uc010keg.2_5'Flank	NM_020399	NP_065132	P08922	ROS_HUMAN	Homo sapiens golgi-associated PDZ and coiled-coil motif containing (GOPC), transcript variant 1, mRNA.	0	Fibronectin type-III 1.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACCAGAGTCAGCACTTTGACC	0.408000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									34			10		0	0	0.001368	0	0
CR2	1380	broad.mit.edu	37	1	207647209	207647209	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:207647209T>C	uc001hfw.3	+	10	2161	c.2042T>C	c.(2041-2043)gTt>gCt	p.V681A	CR2_uc001hfv.3_Missense_Mutation_p.V740A|CR2_uc009xch.3_Missense_Mutation_p.V681A	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	681	Sushi 11.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GTGGAGCTAGTTAATACGTCC	0.423000														63			34		0	0	0.005524	0	0
AKR1B10	57016	broad.mit.edu	37	7	134217800	134217800	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:134217800C>T	uc003vrr.3	+	3	716	c.396C>T	c.(394-396)atC>atT	p.I132I		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	132					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						GTAATGCCATCGGTGGAAAAG	0.463000														74			48		0	0	0.003610	0	0
IRGC	56269	broad.mit.edu	37	19	44223287	44223287	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:44223287G>A	uc002oxh.3	+	1	724	c.577G>A	c.(577-579)Gag>Aag	p.E193K	IRGC_uc021uvh.1_Missense_Mutation_p.E193K	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	193						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				TGTCCTGCAGGAGATCCGAGA	0.677000														53			18		0	0	0.001882	0	0
APOBEC3H	164668	broad.mit.edu	37	22	39497945	39497945	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:39497945C>A	uc021wpt.1	+	3	568	c.441C>A	c.(439-441)aaC>aaA	p.N147K	APOBEC3H_uc021wps.1_Intron|APOBEC3H_uc021wpu.1_Missense_Mutation_p.N147K|APOBEC3H_uc021wpv.1_Missense_Mutation_p.N147K	NM_001166003	NP_001159475	Q6NTF7	ABC3H_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H (APOBEC3H), transcript variant 1, mRNA.	147					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					GCTGGGAAAACTTTGTGGACC	0.527000														53			13		4.36969e-10	4.81086e-10	0.001855	1	0
TNC	3371	broad.mit.edu	37	9	117810577	117810577	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:117810577C>T	uc004bjj.4	-	15	5226	c.4814G>A	c.(4813-4815)gGg>gAg	p.G1605E	TNC_uc010mvf.3_Intron|TNC_uc022bmj.1_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1605	Fibronectin type-III 11.			SGFTQGHQT -> LWLHPRASN (in Ref. 1; no nucleotide entry, 3; AAA88083 and 7; AAA52703).	cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGTTTGATGCCCTTGGGTGAA	0.488000														88			34		0	0	0.004878	0	0
TFPI2	7980	broad.mit.edu	37	7	93518426	93518426	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:93518426G>A	uc003umy.1	-	2	456	c.381C>T	c.(379-381)tcC>tcT	p.S127S	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.S127S|TFPI2_uc003una.1_Silent_p.S116S	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	127	BPTI/Kunitz inhibitor 2.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GACACCCACCGGAAAAGAATT	0.438000														68			54		0	0	0.003610	0	0
PTPRU	10076	broad.mit.edu	37	1	29606570	29606570	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:29606570C>T	uc001bru.3	+	10	1914	c.1785C>T	c.(1783-1785)gcC>gcT	p.A595A	PTPRU_uc009vtq.3_Silent_p.A595A|PTPRU_uc009vtr.3_Silent_p.A595A|PTPRU_uc001brw.3_Silent_p.A595A	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	595	Fibronectin type-III 4.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TTGATTATGCCGACATGCCGT	0.637000														44			21		0	0	0.004656	0	0
DNAH8	1769	broad.mit.edu	37	6	38750810	38750810	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:38750810G>A	uc021yzh.1	+	16	2399	c.2290G>A	c.(2290-2292)Ggt>Agt	p.G764S	DNAH8_uc003ooe.2_Missense_Mutation_p.G547S	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						AAGTCCGGACGGTAAAGCTGT	0.373000														46			15		0	0	0.002450	0	0
EPS15	2060	broad.mit.edu	37	1	51929354	51929354	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:51929354G>A	uc001csq.1	-	6	584	c.492C>T	c.(490-492)atC>atT	p.I164I	EPS15_uc009vyz.1_Silent_p.I164I	NM_001981	NP_001972	P42566	EPS15_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15 (EPS15), transcript variant 1, mRNA.	164	EF-hand 1.|EH 2.				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.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CTCTTCCAAGGATATCCACAG	0.303000			T	MLL	ALL									29			7		0	0	0.001984	0	0
FSIP2	401024	broad.mit.edu	37	2	186671598	186671598	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:186671598C>T	uc002upl.3	+	16	17832	c.17832C>T	c.(17830-17832)ttC>ttT	p.F5944F	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						GAAATCAGTTCCCTGGGGGTA	0.403000														40			16		0	0	0.004990	0	0
CDH5	1003	broad.mit.edu	37	16	66436656	66436656	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:66436656G>A	uc002eom.4	+	11	2095	c.1939G>A	c.(1939-1941)Gag>Aag	p.E647K		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	647					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CACCTACGACGAGGAGGGCGG	0.721000														9			9		0	0	0.006214	0	0
LRTM1	57408	broad.mit.edu	37	3	54959240	54959240	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:54959240C>T	uc003dhl.3	-	1	144	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	4						integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AGGAGCAGTTCACCTACAACA	0.453000														23			9		0	0	0.000978	0	0
PTPRS	5802	broad.mit.edu	37	19	5220313	5220313	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:5220313G>A	uc002mbv.3	-	20	3741	c.3507C>T	c.(3505-3507)ttC>ttT	p.F1169F	PTPRS_uc002mbu.1_Silent_p.F738F|PTPRS_uc010xin.2_Silent_p.F738F|PTPRS_uc002mbw.3_Silent_p.F1147F|PTPRS_uc002mbx.3_Silent_p.F742F|PTPRS_uc002mby.3_Silent_p.F738F	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1169					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCGGGGTCAGGAATTGGCCTC	0.582000														26			21		0	0	0.004656	0	0
SLC28A1	9154	broad.mit.edu	37	15	85461766	85461766	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:85461766C>T	uc002blg.3	+	9	1009	c.807C>T	c.(805-807)atC>atT	p.I269I	SLC28A1_uc010upd.1_Silent_p.I191I|SLC28A1_uc010bnb.3_Silent_p.I269I|SLC28A1_uc010upe.2_Silent_p.I269I|SLC28A1_uc010upf.1_Silent_p.I269I|SLC28A1_uc010upg.1_Silent_p.I269I	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	269					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTCTGCCCATCATTGTCTTTT	0.597000														81			18		0	0	0.010504	0	0
UCHL3	7347	broad.mit.edu	37	13	76169099	76169099	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:76169099C>T	uc001vjq.3	+	6	553	c.523C>T	c.(523-525)Cat>Tat	p.H175Y		NM_006002	NP_005993	P15374	UCHL3_HUMAN	Homo sapiens ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) (UCHL3), mRNA.	175					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		TGCATTAGTTCATGTAGATGG	0.338000														131			81		0	0	0.003610	0	0
HSCB	150274	broad.mit.edu	37	22	29139878	29139878	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:29139878C>T	uc003aea.3	+	1	286	c.245C>T	c.(244-246)tCc>tTc	p.S82F	CHEK2_uc003adt.1_5'Flank|CHEK2_uc003adu.1_5'Flank|CHEK2_uc003adv.1_5'Flank|CHEK2_uc003adx.1_5'Flank	NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN	Homo sapiens HscB iron-sulfur cluster co-chaperone homolog (E. coli) (HSCB), mRNA.	82	J.				iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						AGCAACCGTTCCTTCAGAGTT	0.448000														52			25		0	0	0.005443	0	0
FAM19A1	407738	broad.mit.edu	37	3	68466508	68466508	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:68466508A>T	uc003dnd.3	+	2	413	c.197A>T	c.(196-198)aAg>aTg	p.K66M	FAM19A1_uc003dne.3_Missense_Mutation_p.K66M|FAM19A1_uc003dng.3_Missense_Mutation_p.K66M	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.	66						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		CAAACAGTAAAGTGTTCCTGT	0.483000														69			27		0	0	0.006320	0	0
PDHA2	5161	broad.mit.edu	37	4	96761419	96761419	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:96761419G>A	uc003htr.4	+	0	181	c.118G>A	c.(118-120)Gat>Aat	p.D40N		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	40					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TAAGAAATGTGATCTTTATCT	0.512000														9			8		0	0	0.003080	0	0
SPAG16	79582	broad.mit.edu	37	2	214354720	214354720	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:214354720C>T	uc002veq.3	+	9	1068	c.976C>T	c.(976-978)Cca>Tca	p.P326S	SPAG16_uc010fuz.2_Missense_Mutation_p.P177S|SPAG16_uc002ver.3_Missense_Mutation_p.P272S|SPAG16_uc010zjk.2_Missense_Mutation_p.P232S	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	326					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GCAACCAAATCCAAACCTGAA	0.353000														48			17		0	0	0.008871	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72202035	72202035	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:72202035C>T	uc001xms.3	+	19	5474	c.5113C>T	c.(5113-5115)Cgc>Tgc	p.R1705C	SIPA1L1_uc001xmt.3_Missense_Mutation_p.R1684C|SIPA1L1_uc001xmu.3_Missense_Mutation_p.R1684C|SIPA1L1_uc001xmv.3_Missense_Mutation_p.R1705C|SIPA1L1_uc010ttm.2_Missense_Mutation_p.R1159C	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1705					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TGAAAACCATCGCCCCTTGAG	0.507000														106			25		0	0	0.002096	0	0
TRPM6	140803	broad.mit.edu	37	9	77417047	77417047	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:77417047T>A	uc004ajl.1	-	15	2014	c.1776A>T	c.(1774-1776)gaA>gaT	p.E592D	TRPM6_uc004ajk.1_Missense_Mutation_p.E587D|TRPM6_uc022bib.1_Missense_Mutation_p.E587D|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	592					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATACATTTTGTTCTTTTGACT	0.368000														15			7		0	0	0.003080	0	0
SLC22A10	387775	broad.mit.edu	37	11	63072291	63072291	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:63072291C>T	uc009yor.3	+	8	1736	c.1528C>T	c.(1528-1530)Ctt>Ttt	p.L510F	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_3'UTR	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	510						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CATTGGTGGCCTTATTGTCTT	0.448000														55			27		0	0	0.006320	0	0
PTPRB	5787	broad.mit.edu	37	12	70986322	70986322	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:70986322G>A	uc001swb.4	-	4	896	c.866C>T	c.(865-867)cCc>cTc	p.P289L	PTPRB_uc010sto.2_Missense_Mutation_p.P289L|PTPRB_uc010stp.2_Missense_Mutation_p.P289L|PTPRB_uc001swc.4_Missense_Mutation_p.P507L|PTPRB_uc001swa.4_Missense_Mutation_p.P507L|PTPRB_uc001swd.4_Missense_Mutation_p.P506L|PTPRB_uc009zrr.2_Missense_Mutation_p.P386L|PTPRB_uc001swe.3_Missense_Mutation_p.P507L	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	289	Fibronectin type-III 4.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GACTTCCATGGGGGCTAATCA	0.403000														12			19		0	0	0.002780	0	0
SNIP1	79753	broad.mit.edu	37	1	38005955	38005955	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:38005955G>A	uc001cbi.3	-	2	802	c.729C>T	c.(727-729)gtC>gtT	p.V243V	SNIP1_uc010oid.2_Non-coding_Transcript	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Homo sapiens Smad nuclear interacting protein 1 (SNIP1), mRNA.	243					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				TATATTTAATGACTACACCCC	0.453000														47			21		0	0	0.002299	0	0
NR5A2	2494	broad.mit.edu	37	1	200017821	200017821	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:200017821G>A	uc001gvb.3	+	4	1191	c.985G>A	c.(985-987)Gag>Aag	p.E329K	NR5A2_uc001gvc.3_Missense_Mutation_p.E283K|NR5A2_uc009wzh.3_Missense_Mutation_p.E289K|NR5A2_uc010pph.2_Missense_Mutation_p.E257K	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	329					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TTTGCAGCAAGAGCAGGCTAA	0.498000														60			23		0	0	0.003330	0	0
TLN1	7094	broad.mit.edu	37	9	35710878	35710878	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:35710878G>A	uc003zxt.2	-	31	4473	c.4119C>T	c.(4117-4119)gtC>gtT	p.V1373V		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	1373	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGTTCCCGGACCGTCTGTG	0.547000														55			24		0	0	0.003954	0	0
PTGS1	5742	broad.mit.edu	37	9	125140749	125140749	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:125140749C>T	uc004bmg.1	+	3	384	c.249C>T	c.(247-249)ccC>ccT	p.P83P	PTGS1_uc011lys.1_Silent_p.P58P|PTGS1_uc010mwb.1_5'UTR|PTGS1_uc004bmf.1_Silent_p.P83P|PTGS1_uc004bmh.1_5'UTR|PTGS1_uc011lyt.1_5'UTR	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	83					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	CACTGCGGCCCAGCCCCTCTT	0.597000														81			32		0	0	0.002836	0	0
RBBP6	5930	broad.mit.edu	37	16	24573481	24573481	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:24573481C>T	uc002dmh.3	+	10	2329	c.1289_splice	c.e10+1	p.R430_splice	RBBP6_uc010vcb.1_Splice_Site_p.R297_splice|RBBP6_uc002dmi.3_Splice_Site_p.R430_splice|RBBP6_uc010bxr.3_Splice_Site_p.R430_splice|RBBP6_uc002dmk.3_Splice_Site_p.R297_splice	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	430					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TGGACCTTTTCGGTAAGCCTG	0.403000														46			22		0	0	0.003330	0	0
MYLK2	85366	broad.mit.edu	37	20	30408243	30408243	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:30408243C>T	uc002wwq.2	+	2	469	c.367C>T	c.(367-369)Cct>Tct	p.P123S		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	123					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CAGCCAGGATCCTGGAAAGCC	0.657000														23			15		0	0	0.004007	0	0
MICALL2	79778	broad.mit.edu	37	7	1482016	1482016	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:1482016A>G	uc003skj.4	-	6	1670	c.1523T>C	c.(1522-1524)cTt>cCt	p.L508P	MICALL2_uc003ski.4_5'UTR	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	508						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		AGGGAGGCCAAGCACCCGGGG	0.632000														130			70		0	0	0.003610	0	0
LOC494141	494141	broad.mit.edu	37	11	18232048	18232048	+	RNA	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:18232048G>A	uc009yhh.3	+	1		c.1072G>A			LOC494141_uc001mnx.4_Non-coding_Transcript|LOC494141_uc009yhi.2_Non-coding_Transcript					Homo sapiens mitochondrial carrier triple repeat 1 pseudogene (LOC494141), transcript variant 1, non-coding RNA.																		GTTCTCATCTGAATTACCATC	0.388000														24			12		0	0	0.001368	0	0
FSCB	84075	broad.mit.edu	37	14	44974751	44974751	+	Silent	SNP	C	T	T	rs17115207	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:44974751C>T	uc001wvn.3	-	0	1749	c.1440G>A	c.(1438-1440)acG>acA	p.T480T		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	480	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CAGGAGGCTCCGTAGCTGCTA	0.507000														10			15		0	0	0.007413	0	0
RGS18	64407	broad.mit.edu	37	1	192153620	192153620	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:192153620G>A	uc001gsg.3	+	4	820	c.644G>A	c.(643-645)cGa>cAa	p.R215Q		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	Homo sapiens regulator of G-protein signaling 18 (RGS18), mRNA.	215					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.R214G(1)		kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTAGGAGACGATCACGCTCA	0.358000														34			14		0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9067342	9067342	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9067342G>A	uc002mkp.3	-	2	20308	c.20104C>T	c.(20104-20106)Cca>Tca	p.P6702S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6704	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						TCAGGGCCTGGAATGGATGTT	0.478000														148			59		0	0	0.003610	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999286	27999286	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:27999286C>T	uc004dbx.1	-	0	281	c.166G>A	c.(166-168)Gat>Aat	p.D56N		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	56										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						AAACCACCATCCCTGGTATCA	0.517000														21			6		0	0	0.001168	0	0
AICDA	57379	broad.mit.edu	37	12	8757480	8757480	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:8757480C>T	uc001qur.2	-	3	545	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	AICDA_uc001qup.1_Missense_Mutation_p.E141K|AICDA_uc001quq.1_Intron|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	156					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)					AAAGTTCTTTCGTGGTTTTCT	0.423000														33			44		0	0	0.003610	0	0
LRP1	4035	broad.mit.edu	37	12	57604507	57604507	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:57604507C>T	uc001snd.3	+	82	13227	c.12761C>T	c.(12760-12762)cCc>cTc	p.P4254L		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	4254	EGF-like 18.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAGGCATGCCCACGTGCCGG	0.657000														40			52		0	0	0.003610	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136412220	136412220	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:136412220A>G	uc011mdl.2	+	8	1381	c.824A>G	c.(823-825)aAg>aGg	p.K275R	ADAMTSL2_uc004cei.3_Missense_Mutation_p.K275R	NM_001145320	NP_055509	Q86TH1	ATL2_HUMAN	Homo sapiens ADAMTS-like 2 (ADAMTSL2), transcript variant 2, mRNA.	275					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.P274P(1)		kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GACAGCCCCAAGAACTTCAAC	0.567000														146			33		0	0	0.003755	0	0
CDH13	1012	broad.mit.edu	37	16	83704515	83704515	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:83704515G>A	uc010vns.2	+	9	1627	c.1363G>A	c.(1363-1365)Ggg>Agg	p.G455R	CDH13_uc002fgx.3_Missense_Mutation_p.G408R|CDH13_uc010vnt.2_Missense_Mutation_p.G154R|CDH13_uc010vnu.2_Missense_Mutation_p.G369R	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	408	Cadherin 3.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CGGAAACCCCGGGCAGAGCTT	0.498000														95			28		0	0	0.002096	0	0
MIPOL1	145282	broad.mit.edu	37	14	37739697	37739697	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:37739697G>A	uc001wud.3	+	7	1102	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	MIPOL1_uc010amr.2_Non-coding_Transcript|MIPOL1_uc001wub.4_Missense_Mutation_p.E123K|MIPOL1_uc010ams.3_Missense_Mutation_p.E154K|MIPOL1_uc001wuc.3_Missense_Mutation_p.E154K|MIPOL1_uc001wue.3_Missense_Mutation_p.E123K|MIPOL1_uc010amt.3_Intron	NM_001195297	NP_001182226	Q8TD10	MIPO1_HUMAN	Homo sapiens mirror-image polydactyly 1 (MIPOL1), transcript variant 2, mRNA.	154										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		CCAAGAGAAAGAAACAGAAGC	0.338000														18			15		0	0	0.003163	0	0
ASAH2	56624	broad.mit.edu	37	10	52003094	52003094	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:52003094G>A	uc001jjd.3	-	2	378	c.378C>T	c.(376-378)tcC>tcT	p.S126S	ASAH2_uc009xos.3_Silent_p.S126S	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA.	126					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						CATTCTGGCCGGATTTGCCAT	0.493000														34			10		0	0	0.008291	0	0
VSTM1	284415	broad.mit.edu	37	19	54545038	54545038	+	Missense_Mutation	SNP	G	A	A	rs141064630		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:54545038G>A	uc002qcw.4	-	7	762	c.586C>T	c.(586-588)Ctc>Ttc	p.L196F	VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_Missense_Mutation_p.L108F|VSTM1_uc002qcx.4_Missense_Mutation_p.L165F|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Missense_Mutation_p.L76F	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA.	196						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		CTCACCGAGAGAGATACCCTT	0.468000														20			14		0	0	0.003163	0	0
AFF3	3899	broad.mit.edu	37	2	100167982	100167982	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:100167982G>A	uc002taf.3	-	23	3854	c.3710C>T	c.(3709-3711)tCc>tTc	p.S1237F	AFF3_uc002tag.3_Missense_Mutation_p.S1212F	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	1212					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCCCTGTTGGGAGTACTGGAC	0.592000														31			6		0	0	0.001168	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110456968	110456968	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:110456968C>T	uc001pkz.1	-	12	1672	c.1387G>A	c.(1387-1389)Gat>Aat	p.D463N	ARHGAP20_uc001pky.1_Missense_Mutation_p.D440N|ARHGAP20_uc009yyb.1_Missense_Mutation_p.D427N|ARHGAP20_uc001pla.1_Missense_Mutation_p.D427N|ARHGAP20_uc001plb.2_Missense_Mutation_p.D6N	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	463	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TTCTCTTCATCATTTCCTTGA	0.259000														63			13		0	0	0.004007	0	0
GRM8	2918	broad.mit.edu	37	7	126173045	126173045	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:126173045G>A	uc003vlr.2	-	7	2702	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.F797F|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	797					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)	AGATGGGGATGAAAGCTAACC	0.393000										HNSCC(24;0.065)				26			9		0	0	0.001368	0	0
SYT3	84258	broad.mit.edu	37	19	51133407	51133407	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:51133407G>A	uc002pst.3	-	2	1330	c.696C>T	c.(694-696)ccC>ccT	p.P232P	SYT3_uc002psv.3_Silent_p.P232P|SYT3_uc010ycd.2_Silent_p.P232P	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	232						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GCTGGGTGAGGGGTCGGGGCA	0.647000														14			10		0	0	0.008291	0	0
MET	4233	broad.mit.edu	37	7	116380952	116380952	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:116380952C>A	uc003vij.3	+	4	1761	c.1574C>A	c.(1573-1575)tCc>tAc	p.S525Y	MET_uc022akk.1_Missense_Mutation_p.S525Y|MET_uc010lkh.3_Missense_Mutation_p.S525Y|MET_uc011knc.1_Missense_Mutation_p.S525Y|MET_uc011knd.2_Missense_Mutation_p.S525Y|MET_uc011knf.2_Missense_Mutation_p.S525Y|MET_uc011kne.2_Intron|MET_uc011kng.1_Missense_Mutation_p.S525Y|MET_uc011knh.1_Missense_Mutation_p.S525Y|MET_uc011kni.2_Missense_Mutation_p.S525Y|MET_uc011knj.2_Missense_Mutation_p.S95Y|MET_uc011knb.1_Missense_Mutation_p.S525Y	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	525					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.S525T(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CATTTCCAGTCCTGCAGTCAA	0.517000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					100			31		7.01153e-11	7.73107e-11	0.007291	1	0
KRT83	3889	broad.mit.edu	37	12	52708473	52708473	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:52708473G>A	uc001saf.2	-	8	1487	c.1424C>T	c.(1423-1425)cCc>cTc	p.P475L		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	475	Tail.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGGCCACAGGGCTTGCACAA	0.672000														4			3		0	0	0.004672	0	0
EPRS	2058	broad.mit.edu	37	1	220191809	220191809	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:220191809G>A	uc001hly.1	-	11	1746	c.1476C>T	c.(1474-1476)atC>atT	p.I492I	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Silent_p.I243I|EPRS_uc001hlz.1_Silent_p.I492I|EPRS_uc009xdt.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	492	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TAAACGCCCAGATTTTGTCCC	0.378000														47			14		0	0	0.003163	0	0
RIOK1	83732	broad.mit.edu	37	6	7401210	7401210	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:7401210G>C	uc003mxn.3	+	5	674	c.500G>C	c.(499-501)aGa>aCa	p.R167T	RIOK1_uc003mxm.1_Missense_Mutation_p.R63T|RIOK1_uc003mxo.3_5'Flank	NM_031480	NP_694550	Q9BRS2	RIOK1_HUMAN	Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA.	167							ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					CCCAGAACAAGAATGATTTTA	0.338000														36			8		0	0	0.008291	0	0
FAT4	79633	broad.mit.edu	37	4	126329794	126329794	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:126329794G>A	uc003ifj.4	+	3	5765	c.5765G>A	c.(5764-5766)gGg>gAg	p.G1922E	FAT4_uc011cgp.2_Missense_Mutation_p.G220E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1922	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G1921C(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAAGATGGTGGGGGACAATTT	0.338000														18			18		0	0	0.008871	0	0
MUC16	94025	broad.mit.edu	37	19	9089986	9089986	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9089986G>A	uc002mkp.3	-	0	2033	c.1829C>T	c.(1828-1830)tCa>tTa	p.S610L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	610	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						TCCTGTCATTGAAATCCCAGT	0.537000														31			14		0	0	0.003163	0	0
PLS1	5357	broad.mit.edu	37	3	142403152	142403152	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:142403152C>T	uc010huv.3	+	7	962	c.803C>T	c.(802-804)cCc>cTc	p.P268L	PLS1_uc003euz.3_Missense_Mutation_p.P268L|PLS1_uc003eva.3_Missense_Mutation_p.P268L	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	268	Actin-binding 1.|CH 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						AAGCTTTCTCCCGAGGAATTA	0.428000														35			12		0	0	0.001855	0	0
NAT1	9	broad.mit.edu	37	8	18080218	18080218	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:18080218C>T	uc010ltd.3	+	4	1029	c.662C>T	c.(661-663)tCa>tTa	p.S221L	NAT1_uc003wyt.3_Missense_Mutation_p.S283L|NAT1_uc003wyu.3_Missense_Mutation_p.S221L|NAT1_uc003wyv.3_Missense_Mutation_p.S221L|NAT1_uc010ltc.3_Missense_Mutation_p.S221L|NAT1_uc003wys.3_Missense_Mutation_p.S283L|NAT1_uc003wyr.3_Missense_Mutation_p.S221L|NAT1_uc003wyq.3_Missense_Mutation_p.S221L|NAT1_uc011kyl.2_Missense_Mutation_p.S221L	NM_001160179	NP_001153651	P18440	ARY1_HUMAN	Homo sapiens N-acetyltransferase 1 (arylamine N-acetyltransferase) (NAT1), transcript variant 9, mRNA.	221					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		ACTAGTAAATCATTTTGTTCC	0.393000														38			9		0	0	0.004482	0	0
THBS4	7060	broad.mit.edu	37	5	79375868	79375868	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:79375868C>T	uc021yaw.1	+	19	2843	c.2652C>T	c.(2650-2652)ttC>ttT	p.F884F	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	884	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACCGCTGGTTCCTACAGCACA	0.587000														7			8		0	0	0.004482	0	0
RIN2	54453	broad.mit.edu	37	20	19956095	19956095	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:19956095C>T	uc002wro.2	+	7	1722	c.1573C>T	c.(1573-1575)Ccc>Tcc	p.P525S	RIN2_uc010gcu.2_Intron|RIN2_uc010gcv.2_Missense_Mutation_p.P270S	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	476					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CATGGCGCCCCCCATCAAGTC	0.587000														37			10		0	0	0.006214	0	0
TLE2	7089	broad.mit.edu	37	19	3009669	3009669	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:3009669G>A	uc010dth.3	-	12	1310	c.1047C>T	c.(1045-1047)ccC>ccT	p.P349P	TLE2_uc010xhb.2_Intron|TLE2_uc002lww.3_Silent_p.P348P|TLE2_uc010xhc.2_Silent_p.P226P|TLE2_uc010dti.3_Silent_p.P362P|TLE2_uc010xhd.1_Silent_p.P256P	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	348	Pro/Ser-rich.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		ACGTGGTGAAGGGACTGGACA	0.647000														16			5		0	0	0.001168	0	0
MFAP2	4237	broad.mit.edu	37	1	17301806	17301806	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:17301806T>A	uc001azw.3	-	7	539	c.406A>T	c.(406-408)Atc>Ttc	p.I136F	MFAP2_uc001azx.3_Missense_Mutation_p.I135F|MFAP2_uc001azy.3_Missense_Mutation_p.I136F|MFAP2_uc010ocl.2_Missense_Mutation_p.I135F	NM_002403	NP_059453	P55001	MFAP2_HUMAN	Homo sapiens microfibrillar-associated protein 2 (MFAP2), transcript variant 2, mRNA.	136						microfibril				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CGAACACAGATCTCCTTGTTA	0.607000														27			19		0	0	0.002299	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088408	43088408	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:43088408G>A	uc001jaf.1	-	4	2105	c.1990C>T	c.(1990-1992)Cct>Tct	p.P664S	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.P552S|ZNF33B_uc001jad.3_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.	664						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CATTTATAAGGCTTTTCTTGT	0.393000														48			8		0	0	0.008291	0	0
IRAK2	3656	broad.mit.edu	37	3	10219700	10219700	+	Silent	SNP	G	A	A	rs140169922		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:10219700G>A	uc003bve.1	+	1	349	c.273G>A	c.(271-273)ctG>ctA	p.L91L		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	91	Death.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	p.L91L(1)		breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						AGATCATCCTGAACTGTGAGT	0.597000														31			16		0	0	0.004007	0	0
MAP3K5	4217	broad.mit.edu	37	6	136980443	136980443	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:136980443A>T	uc003qhc.3	-	8	1801	c.1440T>A	c.(1438-1440)ttT>ttA	p.F480L	MAP3K5_uc011edj.2_5'Flank|MAP3K5_uc011edk.1_Missense_Mutation_p.F325L|MAP3K5_uc010kgw.1_Missense_Mutation_p.F480L	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	480					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CCCCCAGAAAAAATCCAACTT	0.413000														48			27		0	0	0.006320	0	0
DGKK	139189	broad.mit.edu	37	X	50119069	50119069	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:50119069T>C	uc010njr.2	-	24	3391	c.3347A>G	c.(3346-3348)cAa>cGa	p.Q1116R		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	1123					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GCCACTGTCTTGGCCGTAAAA	0.443000														11			11		0	0	0.000978	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1905131	1905131	+	Missense_Mutation	SNP	C	T	T	rs111978809		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:1905131C>T	uc003wpr.3	+	28	3915	c.3737C>T	c.(3736-3738)tCg>tTg	p.S1246L	ARHGEF10_uc003wps.3_Missense_Mutation_p.S1208L|ARHGEF10_uc010lre.3_Missense_Mutation_p.S897L	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	1271					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TTGGGAGATTCGCTGGGATCG	0.582000														57			33		0	0	0.007835	0	0
AARS	16	broad.mit.edu	37	16	70311043	70311043	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:70311043G>A	uc002eyn.1	-	2	269	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_001605	NP_001596	P49588	SYAC_HUMAN	Homo sapiens alanyl-tRNA synthetase (AARS), mRNA.	53					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	TTGTGTTCAGGAAAATGGGTT	0.498000														39			17		0	0	0.006122	0	0
SAMD9	54809	broad.mit.edu	37	7	92732986	92732986	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:92732986G>A	uc003umf.3	-	2	2695	c.2425C>T	c.(2425-2427)Ctt>Ttt	p.L809F	SAMD9_uc003umg.3_Missense_Mutation_p.L809F|SAMD9_uc022ahg.1_Missense_Mutation_p.L809F	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	809						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TACTGCAGAAGATAGACATTA	0.363000														53			18		0	0	0.007413	0	0
LRRK2	120892	broad.mit.edu	37	12	40716175	40716175	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:40716175G>A	uc001rmg.4	+	36	5493	c.5372G>A	c.(5371-5373)tGg>tAg	p.W1791*	LRRK2_uc009zjw.3_Nonsense_Mutation_p.W629*|LRRK2_uc001rmi.3_Nonsense_Mutation_p.W624*	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1791					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATGGAAGAATGGTTTCCTGGG	0.388000														82			51		0	0	0.003610	0	0
ATP13A5	344905	broad.mit.edu	37	3	192994600	192994600	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:192994600G>A	uc011bsq.2	-	28	3335	c.3335C>T	c.(3334-3336)tCg>tTg	p.S1112L		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	1112					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AACCCTCCACGATGTTATGGT	0.313000														20			13		0	0	0.003163	0	0
DNAH3	55567	broad.mit.edu	37	16	20996678	20996678	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:20996678C>T	uc010vbe.2	-	47	7386	c.7386G>A	c.(7384-7386)aaG>aaA	p.K2462K	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2462	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)		CTGCGTAGTTCTTGGTGATCT	0.547000														11			15		0	0	0.002450	0	0
FBXW4	6468	broad.mit.edu	37	10	103433355	103433355	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:103433355G>A	uc001kto.3	-	2	778	c.432C>T	c.(430-432)ttC>ttT	p.F144F		NM_022039	NP_071322	P57775	FBXW4_HUMAN	Homo sapiens F-box and WD repeat domain containing 4 (FBXW4), mRNA.	144					Wnt receptor signaling pathway|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		CATCTGGACGGAACTGGTAGG	0.483000														41			7		0	0	0.001984	0	0
GSTM4	2948	broad.mit.edu	37	1	110212119	110212119	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:110212119C>T	uc001dyi.3	+	4	600	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	GSTM4_uc001dyj.3_Missense_Mutation_p.R96C|GSTM4_uc010ovt.2_Missense_Mutation_p.R96C|GSTM4_uc009wfk.3_Non-coding_Transcript	NM_000848	NP_000839	Q03013	GSTM4_HUMAN	Homo sapiens glutathione S-transferase mu 2 (muscle) (GSTM2), transcript variant 1, mRNA.	96	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GGAGCAGATTCGCGAAGACAT	0.562000														29			17		0	0	0.006122	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83319290	83319290	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:83319290G>A	uc004eej.2	-	21	2269	c.2233C>T	c.(2233-2235)Ctg>Ttg	p.L745L	RPS6KA6_uc011mqt.2_Silent_p.L745L|RPS6KA6_uc011mqu.2_Silent_p.L642L	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	745					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.L745L(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AAATCTTACAGGCCAGTTGAT	0.448000														3			8		0	0	0.003080	0	0
RHBDD3	25807	broad.mit.edu	37	22	29656822	29656822	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:29656822G>A	uc003aeq.1	-	4	936	c.564C>T	c.(562-564)ccC>ccT	p.P188P		NM_012265	NP_036397	Q9Y3P4	RHBD3_HUMAN	Homo sapiens rhomboid domain containing 3 (RHBDD3), mRNA.	188						integral to membrane	serine-type endopeptidase activity			lung(1)|ovary(1)	2						GTCGCTCTGAGGGTTCCAGCC	0.701000														8			9		0	0	0.000978	0	0
SCN3A	6328	broad.mit.edu	37	2	165947222	165947222	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:165947222G>A	uc002ucx.3	-	27	5933	c.5441C>T	c.(5440-5442)tCt>tTt	p.S1814F	SCN3A_uc010zcy.2_Missense_Mutation_p.S297F|SCN3A_uc002ucy.3_Missense_Mutation_p.S1765F|SCN3A_uc002ucz.3_Missense_Mutation_p.S1765F	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1814						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1814Y(2)|p.S1765Y(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TGCAAAATCAGAGAGTTTAGA	0.483000														78			20		0	0	0.002299	0	0
NMUR2	56923	broad.mit.edu	37	5	151771986	151771986	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:151771986G>A	uc003luv.2	-	3	1180	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	338					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			TCACATTCTGGAATGCTGCCT	0.502000														73			24		0	0	0.008361	0	0
HIVEP3	59269	broad.mit.edu	37	1	41978682	41978682	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:41978682C>T	uc001cgz.4	-	7	7423	c.6210G>A	c.(6208-6210)agG>agA	p.R2070R	HIVEP3_uc001cha.4_Silent_p.R2070R|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	2070	6 X 4 AA tandem repeats of S-P-X-[RK].				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GAGACCATCTCCTGGTGGGCG	0.687000														21			23		0	0	0.002780	0	0
CCDC170	80129	broad.mit.edu	37	6	151914339	151914339	+	Missense_Mutation	SNP	G	A	A	rs139998977	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:151914339G>A	uc003qol.3	+	7	1480	c.1391G>A	c.(1390-1392)cGa>cAa	p.R464Q		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	464																	GTTTTAGCTCGAACAGAGCAG	0.448000														29			18		0	0	0.007413	0	0
PADI4	23569	broad.mit.edu	37	1	17690199	17690199	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:17690199C>T	uc001baj.2	+	15	1969	c.1941C>T	c.(1939-1941)acC>acT	p.T647T		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	647					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	ACTGCGGCACCAACGTGCGCA	0.602000														22			12		0	0	0.001368	0	0
MATN3	4148	broad.mit.edu	37	2	20194161	20194161	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:20194161T>G	uc002rdl.3	-	6	1367	c.1304A>C	c.(1303-1305)gAa>gCa	p.E435A	MATN3_uc010exu.1_Missense_Mutation_p.E393A	NM_002381	NP_002372	O15232	MATN3_HUMAN	Homo sapiens matrilin 3 (MATN3), mRNA.	435					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCGTGCTTCCTCAGTGGC	0.398000														9			11		0	0	0.008291	0	0
OR2L1P	26247	broad.mit.edu	37	1	248153859	248153859	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248153859G>A	uc001idv.1	+	0	291	c.47G>A	c.(46-48)gGg>gAg	p.G16E	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.											lung(11)	11						ACTGGGTGTGGGATTCAGAGT	0.428000														49			30		0	0	0.006320	0	0
CDH18	1016	broad.mit.edu	37	5	19483609	19483609	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:19483609C>T	uc003jgd.3	-	11	2217	c.1683G>A	c.(1681-1683)caG>caA	p.Q561Q	CDH18_uc011cnm.2_Intron|CDH18_uc003jgc.3_Silent_p.Q561Q|CDH18_uc021xwu.1_Intron	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	561	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AATACACATCCTGAACAGTTC	0.463000														18			3		0	0	0.004672	0	0
DCC	1630	broad.mit.edu	37	18	51053082	51053082	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:51053082C>T	uc002lfe.2	+	27	4823	c.4207C>T	c.(4207-4209)Cct>Tct	p.P1403S	DCC_uc010dpf.2_Missense_Mutation_p.P1036S	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1403					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCCAACAGCCCCTGAAGTGTC	0.502000														38			13		0	0	0.001855	0	0
OR6Q1	219952	broad.mit.edu	37	11	57799015	57799015	+	Silent	SNP	T	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:57799015T>G	uc010rjz.2	+	0	591	c.591T>G	c.(589-591)acT>acG	p.T197T	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CAGATGTCACTTGGAAGGAGA	0.502000														128			4		0	0	0.000602	0	0
FMN2	56776	broad.mit.edu	37	1	240370204	240370204	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:240370204C>T	uc010pye.2	+	5	2329	c.2104C>T	c.(2104-2106)Cct>Tct	p.P702S	FMN2_uc010pyd.2_Missense_Mutation_p.P698S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	698					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.E702E(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGGCAGTATCCTGCCCTGGA	0.498000														44			9		0	0	0.008291	0	0
CACNA1B	774	broad.mit.edu	37	9	141010045	141010045	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:141010045G>A	uc004cog.3	+	40	5830	c.5685G>A	c.(5683-5685)ctG>ctA	p.L1895L	CACNA1B_uc022bqn.1_Silent_p.L1895L|CACNA1B_uc004coi.3_Silent_p.L1109L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1897					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGGCCACCCTGGAGCAGACAC	0.592000														115			10		0	0	0.001368	0	0
DIDO1	11083	broad.mit.edu	37	20	61513529	61513529	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:61513529G>A	uc002ydr.2	-	15	4091	c.3779C>T	c.(3778-3780)tCg>tTg	p.S1260L	DIDO1_uc002yds.2_Missense_Mutation_p.S1260L	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1260	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGGCGGCGGCGACCCAGGAGG	0.617000														127			47		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9071371	9071371	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9071371G>A	uc002mkp.3	-	2	16279	c.16075C>T	c.(16075-16077)Ccc>Tcc	p.P5359S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5361	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5359L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGAGGAGGGGATGCTCTGT	0.527000														43			29		0	0	0.005443	0	0
PEX5	5830	broad.mit.edu	37	12	7354848	7354848	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:7354848C>T	uc009zfu.2	+	8	1234	c.654C>T	c.(652-654)ttC>ttT	p.F218F	PEX5_uc001qsw.3_Silent_p.F218F|PEX5_uc010sgc.2_Silent_p.F233F|PEX5_uc001qsu.3_Intron|PEX5_uc010sgd.2_Silent_p.F239F|PEX5_uc001qsv.3_Silent_p.F218F	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.	218					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						TCCTGAAATTCGTGCGGCAGA	0.597000														20			36		0	0	0.004289	0	0
LY96	23643	broad.mit.edu	37	8	74922261	74922261	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:74922261C>T	uc003yad.3	+	2	342	c.228C>T	c.(226-228)ttC>ttT	p.F76F	LY96_uc022awb.1_Silent_p.F46F	NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	Homo sapiens lymphocyte antigen 96 (LY96), transcript variant 1, mRNA.	76					I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular defense response|detection of lipopolysaccharide|inflammatory response|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			AATTATATTTCAATCTCTATA	0.323000														40			13		0	0	0.001368	0	0
ADRA1B	147	broad.mit.edu	37	5	159344660	159344660	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:159344660G>A	uc003lxt.1	+	0	921	c.748G>A	c.(748-750)Gag>Aag	p.E250K		NM_000679	NP_000670	P35368	ADA1B_HUMAN	Homo sapiens adrenergic, alpha-1B-, receptor (ADRA1B), mRNA.	250					G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	CAACTCCAAGGAGCTGACCCT	0.517000														38			8		0	0	0.004482	0	0
DAB2	1601	broad.mit.edu	37	5	39390557	39390557	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:39390557T>A	uc003jlx.3	-	4	982	c.451A>T	c.(451-453)Acc>Tcc	p.T151S	DAB2_uc003jlw.3_Missense_Mutation_p.T151S	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	151	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TGTTGCCCGGTTTTTATGGCA	0.448000														51			17		0	0	0.008871	0	0
ADARB2	105	broad.mit.edu	37	10	1279754	1279754	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:1279754G>A	uc009xhq.3	-	5	1721	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	465	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	p.F465Y(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TTAACCGCACGAATATCGATC	0.527000														22			12		0	0	0.001368	0	0
BEND2	139105	broad.mit.edu	37	X	18192217	18192218	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:18192217_18192218AC>TT	uc004cyj.4	-	11	2067_2068	c.1913_1914GT>AA	c.(1912-1914)agt>aAA	p.S638K	BEND2_uc010nfb.2_Missense_Mutation_p.S547K	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	638										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGATAGCATTACTGTTTGGCTG	0.406000														21			11		0	0	0.004672	0	0
TPTE	7179	broad.mit.edu	37	21	10943004	10943004	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:10943004G>A	uc002yip.1	-	11	951	c.583C>T	c.(583-585)Cga>Tga	p.R195*	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Nonsense_Mutation_p.R177*|TPTE_uc002yir.1_Nonsense_Mutation_p.R157*|TPTE_uc010gkv.1_Nonsense_Mutation_p.R57*	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	195			R -> Q (in dbSNP:rs1810856).		signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R177*(2)|p.R195K(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)		CGTAGAAGTCGAAGTAAATGT	0.308000														27			11		0	0	0.008291	0	0
DSG3	1830	broad.mit.edu	37	18	29049214	29049214	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:29049214C>T	uc002kws.3	+	11	1908	c.1799C>T	c.(1798-1800)cCa>cTa	p.P600L		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	600					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)			ACTTCTTACCCAACCACAAGC	0.587000														40			26		0	0	0.004656	0	0
C20orf141	128653	broad.mit.edu	37	20	2795880	2795880	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:2795880C>T	uc002wgv.2	+	1	133	c.50C>T	c.(49-51)cCa>cTa	p.P17L	C20orf141_uc010gat.3_Missense_Mutation_p.P17L|C20orf141_uc002wgw.3_Missense_Mutation_p.P17L|TMEM239_uc002wgx.2_5'Flank|TMEM239_uc021vzw.1_5'Flank	NM_001167670	NP_001161142	Q9NUB4	CT141_HUMAN	Homo sapiens transmembrane protein 239 (TMEM239), mRNA.	17						integral to membrane				endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						GATCCGATCCCAGTTCCTCCA	0.612000														71			33		0	0	0.002836	0	0
GNAS	2778	broad.mit.edu	37	20	57429085	57429085	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:57429085C>T	uc002xzw.3	+	0	1050	c.765C>T	c.(763-765)ttC>ttT	p.F255F	GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCAGCCAGTTCGCGGCAGTCG	0.662000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				12			8		0	0	0.004482	0	0
SEPT12	124404	broad.mit.edu	37	16	4827869	4827869	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:4827869C>T	uc002cxq.3	-	9	1270	c.1006G>A	c.(1006-1008)Gga>Aga	p.G336R	SEPT12_uc002cxr.3_Missense_Mutation_p.G290R|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	336					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						GTCAGCTGTCCTGGGGAGGCC	0.647000														5			6		0	0	0.001984	0	0
PLCL2	23228	broad.mit.edu	37	3	17052024	17052024	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:17052024G>A	uc011awc.2	+	2	1258	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K	PLCL2_uc010het.1_Intron|PLCL2_uc011awd.2_Missense_Mutation_p.E270K	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	396					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AGAGGGTCAGGAAAAGGGCTG	0.403000														47			16		0	0	0.003163	0	0
CCDC170	80129	broad.mit.edu	37	6	151865706	151865706	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:151865706G>A	uc003qol.3	+	4	533	c.444_splice	c.e4-1	p.Q148_splice		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	148																	TTGCCTAACAGAAAGTGTTCA	0.348000														13			3		0	0	0.004672	0	0
LRRC7	57554	broad.mit.edu	37	1	70478773	70478773	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:70478773G>A	uc001dep.3	+	11	1166	c.1136_splice	c.e11+1	p.R379_splice	LRRC7_uc009wbg.3_Splice_Site	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	379						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						GTGACAACAGGTATTTTTGCA	0.328000														70			43		0	0	0.009718	0	0
CCDC27	148870	broad.mit.edu	37	1	3673449	3673449	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:3673449G>A	uc001akv.2	+	3	787	c.706G>A	c.(706-708)Gag>Aag	p.E236K		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	236										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AGTCATCCACGAGAAGGTACT	0.612000														14			12		0	0	0.001368	0	0
CLCN2	1181	broad.mit.edu	37	3	184075213	184075213	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:184075213A>G	uc003foi.3	-	7	959	c.835T>C	c.(835-837)Ttc>Ctc	p.F279L	CLCN2_uc003foh.3_5'Flank|CLCN2_uc010hya.2_Missense_Mutation_p.F279L|CLCN2_uc011brl.2_Missense_Mutation_p.F279L|CLCN2_uc011brm.2_Missense_Mutation_p.F235L|CLCN2_uc011brn.1_Missense_Mutation_p.F279L	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	279						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GCAGCGAAGAAGCCCCGCCAG	0.632000														75			21		0	0	0.002780	0	0
PTPRT	11122	broad.mit.edu	37	20	41306699	41306699	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:41306699G>A	uc002xkg.3	-	6	1144	c.960C>T	c.(958-960)atC>atT	p.I320I	PTPRT_uc010ggj.3_Silent_p.I320I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	320	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCTTCAGGATGATGGGGCCAT	0.587000														51			22		0	0	0.002299	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011256	105011256	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:105011256G>A	uc004elz.1	+	10	2419	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	555	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTTAGTATATGAAATGCCCAT	0.423000														28			47		0	0	0.003610	0	0
MYH8	4626	broad.mit.edu	37	17	10321993	10321993	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10321993G>A	uc002gmm.2	-	4	575	c.480C>T	c.(478-480)atC>atT	p.I160I	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	160	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CATTGTCAGAGATGGAGAAGA	0.517000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					55			53		0	0	0.003610	0	0
ASNS	440	broad.mit.edu	37	7	97488238	97488238	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:97488238G>A	uc003uot.4	-	5	1209	c.703C>T	c.(703-705)Ctc>Ttc	p.L235F	ASNS_uc011kin.2_Missense_Mutation_p.L152F|ASNS_uc011kio.2_Missense_Mutation_p.L214F|ASNS_uc003uou.4_Missense_Mutation_p.L235F|ASNS_uc003uov.4_Missense_Mutation_p.L235F|ASNS_uc003uox.4_Missense_Mutation_p.L152F	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	235	Asparagine synthetase.				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)	AGGATCCTGAGGTTGTTCTTC	0.338000														70			33		0	0	0.004289	0	0
EPHA2	1969	broad.mit.edu	37	1	16460021	16460021	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:16460021C>T	uc001aya.2	-	9	1974	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K		NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	607	Mediates interaction with ARHGEF16 and ELMO2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GGATGGATCTCGGTAGTGAAC	0.592000														34			25		0	0	0.003954	0	0
SERPINB2	5055	broad.mit.edu	37	18	61569035	61569035	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:61569035G>A	uc010xeu.2	+	6	930	c.597G>A	c.(595-597)gtG>gtA	p.V199V	SERPINB2_uc002ljo.3_Silent_p.V199V|SERPINB2_uc002ljp.1_Silent_p.V4V|SERPINB2_uc002ljq.1_Silent_p.V4V	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	199					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.V199E(2)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TGGTCCTGGTGAATGCTGTCT	0.378000														54			20		0	0	0.003330	0	0
MCTP2	55784	broad.mit.edu	37	15	94899495	94899495	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:94899495C>T	uc002btj.3	+	7	1200	c.1135C>T	c.(1135-1137)Cag>Tag	p.Q379*	MCTP2_uc010urg.1_Nonsense_Mutation_p.Q379*|MCTP2_uc002bti.2_Nonsense_Mutation_p.Q379*|MCTP2_uc010boj.3_Nonsense_Mutation_p.Q108*|MCTP2_uc010bok.3_Nonsense_Mutation_p.Q379*|MCTP2_uc002btk.4_5'UTR|MCTP2_uc002btl.3_5'UTR	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	379	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GATGTTTGTCCAGTTAAAACT	0.338000														32			14		0	0	0.004007	0	0
FGF6	2251	broad.mit.edu	37	12	4554479	4554479	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:4554479C>T	uc001qmr.1	-	0	302	c.258G>A	c.(256-258)cgG>cgA	p.R86R		NM_020996	NP_066276	P10767	FGF6_HUMAN	Homo sapiens fibroblast growth factor 6 (FGF6), mRNA.	86					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			AGTAGAGCCTCCGCTGCCGCT	0.652000														16			20		0	0	0.008871	0	0
ZNF251	90987	broad.mit.edu	37	8	145947750	145947750	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:145947750G>A	uc003zdv.4	-	4	1551	c.1295C>T	c.(1294-1296)cCc>cTc	p.P432L		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		ACAAACATAGGGTTTTTCTCC	0.458000														56			29		0	0	0.008361	0	0
PRAMEF17	391004	broad.mit.edu	37	1	13716932	13716932	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:13716932G>A	uc009vnz.1	+	1	449	c.419G>A	c.(418-420)aGg>aAg	p.R140K		NM_001099851	NP_001093321	Q5VTA0	PRA17_HUMAN	Homo sapiens PRAME family member 17 (PRAMEF17), mRNA.	140										kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACTATCCAAGGACGGGAGAG	0.537000														161			40		0	0	0.003610	0	0
ANGPT4	51378	broad.mit.edu	37	20	896618	896618	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:896618C>T	uc002wei.3	-	0	343	c.240G>A	c.(238-240)ggG>ggA	p.G80G	ANGPT4_uc010zpn.2_Silent_p.G74G	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	80					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TGGGCAACTTCCCCAGGTGCA	0.622000														67			29		0	0	0.007291	0	0
INADL	10207	broad.mit.edu	37	1	62253636	62253636	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:62253636C>T	uc001dab.3	+	7	1174	c.1060C>T	c.(1060-1062)Cct>Tct	p.P354S	INADL_uc009waf.1_Missense_Mutation_p.P354S|INADL_uc001daa.2_Missense_Mutation_p.P354S|INADL_uc001dad.3_Missense_Mutation_p.P51S	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	354					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAGCAAGGGCCCTGGTTCTGT	0.488000														33			11		0	0	0.001855	0	0
LARGE	9215	broad.mit.edu	37	22	34046368	34046368	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:34046368G>A	uc003and.4	-	3	972	c.393C>T	c.(391-393)gtC>gtT	p.V131V	LARGE_uc003ane.4_Silent_p.V131V|LARGE_uc010gwp.3_Silent_p.V131V|LARGE_uc011ame.2_Silent_p.V63V|LARGE_uc011amf.2_Silent_p.V131V	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	131					N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				ATTTCTCCACGACCGGCTGCT	0.597000														76			18		0	0	0.010504	0	0
C14orf28	122525	broad.mit.edu	37	14	45369720	45369720	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:45369720C>T	uc001wvo.3	+	1	348	c.82C>T	c.(82-84)Cct>Tct	p.P28S	C14orf28_uc001wvp.1_Missense_Mutation_p.P28S	NM_001017923	NP_001017923	Q4W4Y0	CN028_HUMAN	Homo sapiens chromosome 14 open reading frame 28 (C14orf28), mRNA.	28										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						GCCTGTTCTTCCTTGGGGGGG	0.373000														46			8		0	0	0.006214	0	0
SCN11A	11280	broad.mit.edu	37	3	38961472	38961472	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38961472C>T	uc021wvy.1	-	6	1112	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	305					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)	GGTGAATTTTCTTTCTTTTCA	0.338000														37			18		0	0	0.010504	0	0
RBP3	5949	broad.mit.edu	37	10	48387840	48387840	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:48387840C>T	uc001jez.3	-	0	3152	c.3038G>A	c.(3037-3039)gGa>gAa	p.G1013E		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	1013	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGGCACAATTCCAGGAATGCG	0.602000														46			10		0	0	0.000978	0	0
PDIA4	9601	broad.mit.edu	37	7	148709376	148709376	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:148709376G>A	uc003wff.2	-	4	973	c.691C>T	c.(691-693)Ccc>Tcc	p.P231S		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	231	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TTTGCCAGGGGAATTGGAGGA	0.542000														38			17		0	0	0.004990	0	0
BPIFA1	51297	broad.mit.edu	37	20	31825524	31825524	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:31825524C>T	uc002wyt.4	+	1	77	c.7C>T	c.(7-9)Caa>Taa	p.Q3*	BPIFA1_uc002wyu.4_Nonsense_Mutation_p.Q3*|BPIFA1_uc002wyv.3_Nonsense_Mutation_p.Q3*	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	Homo sapiens BPI fold containing family A, member 1 (BPIFA1), transcript variant 2, mRNA.	3					innate immune response	extracellular region	lipid binding										AAAGATGTTTCAAACTGGGGG	0.552000														27			19		0	0	0.008871	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92671613	92671613	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:92671613C>T	uc002bqx.2	+	6	1607	c.1406C>T	c.(1405-1407)tCg>tTg	p.S469L	SLCO3A1_uc002bqy.2_Missense_Mutation_p.S469L|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.S411L	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	469	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GACCCCTACTCGCCCTGCAAT	0.532000														80			10		0	0	0.000978	0	0
ZNF852	285346	broad.mit.edu	37	3	44541329	44541329	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:44541329G>A	uc011azx.2	-	3	1101	c.940C>T	c.(940-942)Ctc>Ttc	p.L314F	ZNF445_uc011azw.1_Intron|ZNF852_uc011azy.2_Missense_Mutation_p.L280F			B6EU87	B6EU87_HUMAN	RecName: Full=Putative zinc finger protein 852;	314					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						TGGTCAATGAGATTTCTATTG	0.403000														28			9		0	0	0.006214	0	0
CHD5	26038	broad.mit.edu	37	1	6184100	6184100	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:6184100C>T	uc001amb.2	-	30	4718	c.4607G>A	c.(4606-4608)gGg>gAg	p.G1536E	CHD5_uc001alz.2_Missense_Mutation_p.G393E|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1536					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CGACTTCTTCCCCTCGGGCCC	0.652000														22			12		0	0	0.001855	0	0
RYR2	6262	broad.mit.edu	37	1	237843767	237843767	+	Silent	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:237843767T>A	uc001hyl.1	+	61	9027	c.8907T>A	c.(8905-8907)ccT>ccA	p.P2969P	RYR2_uc010pxz.1_5'UTR	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2969	Modulator (Potential).				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)			TCGTTCTTCCTTTAATTGATC	0.423000														18			12		0	0	0.001368	0	0
KCNH1	3756	broad.mit.edu	37	1	210948696	210948696	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:210948696C>T	uc001hib.2	-	9	2276	c.2106G>A	c.(2104-2106)agG>agA	p.R702R	KCNH1_uc001hic.2_Silent_p.R675R	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	702	Calmodulin-binding.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TCACCCTCTTCCTCAAGTTGT	0.448000														22			5		0	0	0.001168	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51630295	51630295	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:51630295G>A	uc010yct.2	+	3	852	c.757G>A	c.(757-759)Gtc>Atc	p.V253I	SIGLEC9_uc002pvu.3_Missense_Mutation_p.V253I	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	253	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGTATCCACAGTCTTGGGAAA	0.502000														59			29		0	0	0.002445	0	0
FMNL1	752	broad.mit.edu	37	17	43321365	43321365	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:43321365C>T	uc002iin.3	+	17	2621	c.2421C>T	c.(2419-2421)ttC>ttT	p.F807F	FMNL1_uc002iiq.3_Silent_p.F385F|FMNL1_uc010dag.3_Non-coding_Transcript|FMNL1_uc021tyj.1_Silent_p.F134F	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	807	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TGGGCAACTTCCCGGACACAG	0.667000														25			46		0	0	0.003610	0	0
OBSCN	84033	broad.mit.edu	37	1	228509610	228509610	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:228509610C>T	uc009xez.1	+	54	15112	c.15068C>T	c.(15067-15069)cCg>cTg	p.P5023L	OBSCN_uc001hsn.3_Missense_Mutation_p.P5023L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5023					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)				ACCAAAAGTCCGGCTGAAGTT	0.637000														33			21		0	0	0.008871	0	0
SEMA6D	80031	broad.mit.edu	37	15	48063557	48063557	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:48063557C>T	uc010bek.3	+	18	3157	c.2797C>T	c.(2797-2799)Cct>Tct	p.P933S	SEMA6D_uc001zvw.3_Missense_Mutation_p.P871S|SEMA6D_uc001zvy.3_Missense_Mutation_p.P933S|SEMA6D_uc001zvz.3_Missense_Mutation_p.P877S|SEMA6D_uc001zwa.3_3'UTR|SEMA6D_uc001zwb.3_Missense_Mutation_p.P871S|SEMA6D_uc001zwc.3_Missense_Mutation_p.P858S	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	933					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ATACTCCCCTCCTTCAACTCT	0.522000														82			11		0	0	0.000978	0	0
PCSK5	5125	broad.mit.edu	37	9	78848402	78848402	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:78848402C>T	uc004akc.2	+	21	3294	c.2756C>T	c.(2755-2757)tCg>tTg	p.S919L		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	769					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CGCTGTGTTTCGAACTGCCCC	0.488000														38			13		0	0	0.002450	0	0
CFH	3075	broad.mit.edu	37	1	196716363	196716363	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196716363C>T	uc001gtj.4	+	21	3856	c.3616C>T	c.(3616-3618)Cgt>Tgt	p.R1206C	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1206	Sushi 20.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACGGGGATATCGTCTTTCATC	0.378000														44			27		0	0	0.007291	0	0
TACC2	10579	broad.mit.edu	37	10	123970371	123970371	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:123970371C>T	uc001lfv.3	+	8	6791	c.6431C>T	c.(6430-6432)cCc>cTc	p.P2144L	TACC2_uc001lfw.3_Missense_Mutation_p.P290L|TACC2_uc009xzx.3_Missense_Mutation_p.P2099L|TACC2_uc010qtv.2_Missense_Mutation_p.P2148L|TACC2_uc001lfx.3_5'UTR|TACC2_uc001lfy.3_5'UTR|TACC2_uc001lfz.3_Missense_Mutation_p.P222L|TACC2_uc001lga.3_Missense_Mutation_p.P222L|TACC2_uc009xzy.3_Missense_Mutation_p.P222L|TACC2_uc001lgb.3_Missense_Mutation_p.P179L|TACC2_uc010qtw.1_Missense_Mutation_p.P239L	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2144						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACCAAGAAACCCACAGAGACC	0.507000														75			13		0	0	0.001368	0	0
OR51B5	282763	broad.mit.edu	37	11	5364400	5364400	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5364400C>T	uc001map.1	-	0	355	c.355G>A	c.(355-357)Gac>Aac	p.D119N	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.D119N	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATAAAACGGTCATAGGCCATG	0.473000														43			17		0	0	0.004007	0	0
LEPREL1	55214	broad.mit.edu	37	3	189700921	189700921	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:189700921G>A	uc011bsk.2	-	7	1626	c.1238C>T	c.(1237-1239)tCa>tTa	p.S413L	LEPREL1_uc003fsg.3_Missense_Mutation_p.S232L	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	413					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTTCACTCCTGAAGGGACCCT	0.408000														71			26		0	0	0.007291	0	0
YTHDC2	64848	broad.mit.edu	37	5	112868723	112868723	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:112868723C>T	uc003kqn.3	+	4	1025	c.823C>T	c.(823-825)Cag>Tag	p.Q275*	YTHDC2_uc010jce.2_Nonsense_Mutation_p.Q275*|YTHDC2_uc010jcf.2_5'UTR	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	275	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AATTGGTTATCAGATCCGATT	0.383000														16			13		0	0	0.001855	0	0
COL7A1	1294	broad.mit.edu	37	3	48619179	48619180	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:48619179_48619180GG>AA	uc003ctz.2	-	47	4682_4683	c.4681_4682CC>TT	c.(4681-4683)ccc>TTc	p.P1561F	COL7A1_uc021wxp.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1561	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)		GGGCCCAGCGGGCCCCACATCT	0.579000														114			18		0	0	0.004672	0	0
VPS13B	157680	broad.mit.edu	37	8	100844860	100844860	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:100844860G>A	uc003yiv.3	+	51	9780	c.9669G>A	c.(9667-9669)cgG>cgA	p.R3223R	VPS13B_uc003yiw.3_Silent_p.R3198R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3223					protein transport			p.R3223Q(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGAATTTCCGGGAAAATGGAT	0.463000														48			9		0	0	0.006214	0	0
PLD2	5338	broad.mit.edu	37	17	4726072	4726072	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:4726072C>T	uc002fzc.3	+	24	2841	c.2715C>T	c.(2713-2715)caC>caT	p.H905H	PLD2_uc002fzd.3_Silent_p.H894H	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	905					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	ACCTGGTCCACTTCCCCCTCA	0.637000														22			29		0	0	0.003271	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48523091	48523091	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:48523091G>A	uc002pht.3	+	4	649	c.471G>A	c.(469-471)gaG>gaA	p.E157E		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.	157	Fibronectin type-II 3.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CAACCACAGAGAACATGGATA	0.502000														30			15		0	0	0.006122	0	0
NUP35	129401	broad.mit.edu	37	2	184016308	184016308	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:184016308C>T	uc002upf.3	+	4	573	c.470C>T	c.(469-471)cCt>cTt	p.P157L	NUP35_uc010zfs.2_Missense_Mutation_p.P139L|NUP35_uc010zft.2_Missense_Mutation_p.P39L|NUP35_uc002upg.3_Intron	NM_138285	NP_612142	Q8NFH5	NUP53_HUMAN	Homo sapiens nucleoporin 35kDa (NUP35), mRNA.	157					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						CAGTTGGATCCTTTTTATACT	0.398000														38			11		0	0	0.001368	0	0
LAMA2	3908	broad.mit.edu	37	6	129722412	129722412	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:129722412A>G	uc021zfb.1	+	37	5594	c.5489A>G	c.(5488-5490)aAc>aGc	p.N1830S	LAMA2_uc003qbn.3_Missense_Mutation_p.N1830S|LAMA2_uc003qbo.3_Missense_Mutation_p.N1830S	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1830	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAAATTGAGAACACTTTAAAA	0.388000														56			22		0	0	0.004656	0	0
NOS2	4843	broad.mit.edu	37	17	26101376	26101376	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:26101376C>T	uc002gzu.3	-	11	1647	c.1383G>A	c.(1381-1383)tgG>tgA	p.W461*	NOS2_uc010crh.1_Nonsense_Mutation_p.W461*|NOS2_uc010wab.1_Nonsense_Mutation_p.W461*	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	461					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CCAGCCAAATCCAGTCTGCCG	0.552000														20			18		0	0	0.007413	0	0
PARP8	79668	broad.mit.edu	37	5	50084408	50084408	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:50084408G>A	uc003jon.4	+	10	904	c.722G>A	c.(721-723)gGa>gAa	p.G241E	PARP8_uc011cpz.2_Missense_Mutation_p.G133E|PARP8_uc003joo.3_Missense_Mutation_p.G241E|PARP8_uc003jop.3_Missense_Mutation_p.G241E	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	241						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTTGGATTGGGACATCAGCTG	0.343000														16			5		0	0	0.001168	0	0
COG2	22796	broad.mit.edu	37	1	230807342	230807342	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:230807342C>T	uc001htw.3	+	7	1006	c.855C>T	c.(853-855)caC>caT	p.H285H	COG2_uc001htx.3_Silent_p.H285H|COG2_uc010pwc.2_Silent_p.H158H	NM_007357	NP_031383	Q14746	COG2_HUMAN	Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA.	285					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TTGTTCCTCACCATTGCCGCC	0.453000														65			34		0	0	0.003271	0	0
STAB2	55576	broad.mit.edu	37	12	104063338	104063338	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:104063338G>A	uc001tjw.3	+	20	2378	c.2192G>A	c.(2191-2193)gGc>gAc	p.G731D		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	731					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGCTGCAAAGGCTTCTATGGA	0.453000														32			52		0	0	0.003610	0	0
PROC	5624	broad.mit.edu	37	2	128183746	128183746	+	Silent	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:128183746A>G	uc002tol.3	+	6	711	c.684A>G	c.(682-684)caA>caG	p.Q228Q	PROC_uc002tok.3_Silent_p.Q207Q|PROC_uc010yzi.2_Silent_p.Q263Q|PROC_uc010yzj.2_Silent_p.Q102Q|PROC_uc010yzk.2_Silent_p.Q262Q|MIR4783_uc021vno.1_5'Flank	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	207	Peptidase S1.				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			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)	AAGAAGACCAAGTAGATCCGC	0.612000														56			36		0	0	0.004289	0	0
UGT1A1	54658	broad.mit.edu	37	2	234527080	234527080	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:234527080G>A	uc002vup.3	+	0	790	c.727G>A	c.(727-729)Gat>Aat	p.D243N	UGT1A1_uc010zmv.1_Missense_Mutation_p.D243N	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	246					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)	CACAGCATATGATCTCTACAG	0.408000														107			68		0	0	0.003610	0	0
SLIT1	6585	broad.mit.edu	37	10	98764484	98764484	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:98764484C>T	uc001kmw.2	-	32	3928	c.3676G>A	c.(3676-3678)Gac>Aac	p.D1226N		NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	1226	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTGCCTGGGTCGTAGCTGACA	0.612000														28			9		0	0	0.004482	0	0
SLC35C2	51006	broad.mit.edu	37	20	44980833	44980833	+	Missense_Mutation	SNP	G	A	A	rs138124634	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:44980833G>A	uc010zxp.2	-	8	874	c.781C>T	c.(781-783)Cgt>Tgt	p.R261C	SLC35C2_uc002xro.3_Missense_Mutation_p.R232C|SLC35C2_uc002xrp.3_Missense_Mutation_p.R211C|SLC35C2_uc002xrq.3_Missense_Mutation_p.R232C|SLC35C2_uc002xrr.3_Missense_Mutation_p.R232C|SLC35C2_uc010zxn.2_Missense_Mutation_p.R97C|SLC35C2_uc010zxo.2_Missense_Mutation_p.R118C	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	Homo sapiens solute carrier family 35, member C2 (SLC35C2), transcript variant 1, mRNA.	232					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				TCCTGGAAACGGAAGATTTTC	0.582000														66			18		0	0	0.008871	0	0
THBS1	7057	broad.mit.edu	37	15	39879662	39879662	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:39879662G>A	uc001zkh.3	+	7	1414	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	THBS1_uc010bbi.3_5'Flank	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	412	TSP type-1 1.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTCAACAACCGATGTGAGGGC	0.577000														9			8		0	0	0.006214	0	0
MUC2	4583	broad.mit.edu	37	11	1093693	1093693	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:1093693C>T	uc001lsx.1	+	31	5527	c.5500C>T	c.(5500-5502)Cac>Tac	p.H1834Y		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1919						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCCCCCCACCCACACAAGCAC	0.617000														96			53		0	0	0.003610	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627152	108627152	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:108627152G>A	uc002tdv.3	+	8	1854	c.1578G>A	c.(1576-1578)atG>atA	p.M526I	SLC5A7_uc010ywm.2_Missense_Mutation_p.M279I|SLC5A7_uc010fjj.3_Missense_Mutation_p.M526I|SLC5A7_uc010ywn.2_Missense_Mutation_p.M413I	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	526					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	AAGAAAACATGGATAAGACAA	0.373000														25			6		0	0	0.001168	0	0
TLR4	7099	broad.mit.edu	37	9	120475051	120475051	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:120475051G>A	uc004bjz.3	+	2	936	c.645G>A	c.(643-645)atG>atA	p.M215I	TLR4_uc004bkb.3_Missense_Mutation_p.M15I|TLR4_uc004bka.3_Missense_Mutation_p.M175I	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	215					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGAACCCTATGAACTTTATCC	0.348000														39			14		0	0	0.001855	0	0
VWA3B	200403	broad.mit.edu	37	2	98744761	98744761	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:98744761C>T	uc002syo.3	+	5	1026	c.762C>T	c.(760-762)ctC>ctT	p.L254L	VWA3B_uc010yvh.2_Silent_p.L104L|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.3_Silent_p.L254L|VWA3B_uc002syn.1_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	254										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGGAGCTTCTCCTCCAGAGGG	0.493000														55			34		0	0	0.002836	0	0
OR56A3	390083	broad.mit.edu	37	11	5969065	5969065	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5969065C>T	uc010qzt.2	+	0	489	c.489C>T	c.(487-489)atC>atT	p.I163I		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTGCCCATCCCCATCCTTT	0.443000														41			20		0	0	0.007413	0	0
IGSF10	285313	broad.mit.edu	37	3	151176435	151176435	+	Silent	SNP	G	A	A	rs141824930		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:151176435G>A	uc011bod.2	-	0	63	c.63C>T	c.(61-63)gtC>gtT	p.V21V		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	21					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)			CAGGGGTGGCGACCAGGCAGA	0.527000														37			13		0	0	0.004007	0	0
IFRD2	7866	broad.mit.edu	37	3	50329948	50329948	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:50329948G>A	uc003czb.3	-	2	310	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	IFRD2_uc011bdp.2_5'UTR	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.	0							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCAGAGGCCTGAGCGCGCAGG	0.657000														37			18		0	0	0.008871	0	0
SRRM4	84530	broad.mit.edu	37	12	119583234	119583234	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:119583234C>T	uc001txa.2	+	8	1208	c.820C>T	c.(820-822)Ccg>Tcg	p.P274S		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	274	Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AACAGCCAGCCCGCTCACCAC	0.612000														6			3		0	0	0.004672	0	0
HORMAD1	84072	broad.mit.edu	37	1	150672652	150672652	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:150672652C>T	uc001evk.2	-	13	1158	c.1040G>A	c.(1039-1041)gGa>gAa	p.G347E	GOLPH3L_uc001evj.2_5'Flank|GOLPH3L_uc010pci.1_5'Flank|HORMAD1_uc001evl.2_Missense_Mutation_p.G340E|HORMAD1_uc001evm.2_Missense_Mutation_p.G267E	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	Homo sapiens HORMA domain containing 1 (HORMAD1), transcript variant 1, mRNA.	347					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TGGTTGATTTCCATTTGCCTC	0.308000														24			8		0	0	0.006214	0	0
SPTBN5	51332	broad.mit.edu	37	15	42166142	42166142	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:42166142G>A	uc001zos.3	-	24	5019	c.4686C>T	c.(4684-4686)atC>atT	p.I1562I		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1597					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ACTGCTCCACGATGTGTTGGG	0.647000														22			6		0	0	0.001168	0	0
DNAH5	1767	broad.mit.edu	37	5	13841984	13841984	+	Silent	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:13841984A>T	uc003jfd.2	-	32	5343	c.5301T>A	c.(5299-5301)tcT>tcA	p.S1767S		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1767	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)					CACCCTCTTGAGAGGAAATTG	0.333000									Kartagener syndrome					38			17		0	0	0.004990	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518037	113518037	+	Missense_Mutation	SNP	G	A	A	rs145569602		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:113518037G>A	uc010ljy.1	-	3	3141	c.3110C>T	c.(3109-3111)tCa>tTa	p.S1037L		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	1037					glycogen metabolic process	integral to membrane		p.S1037*(2)|p.Q1036*(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AGTGTATAGTGATTGCCCAGA	0.393000														94			20		0	0	0.001882	0	0
ABCB1	5243	broad.mit.edu	37	7	87214993	87214993	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:87214993G>A	uc003uiz.2	-	4	614	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	ABCB1_uc011khc.2_Missense_Mutation_p.R41C	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	41					G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.R41H(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTTGAATAGCGAAACTAAAAA	0.378000														12			15		0	0	0.002450	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140248751	140248751	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140248751C>T	uc003lia.2	+	0	921	c.63C>T	c.(61-63)ctC>ctT	p.L21L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.L21L	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	34					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTCCTCCTCGAATTCTGGG	0.577000														51			7		0	0	0.003080	0	0
PHLPP2	23035	broad.mit.edu	37	16	71712746	71712746	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:71712746C>T	uc002fax.3	-	6	1186	c.1180G>A	c.(1180-1182)Gat>Aat	p.D394N	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Missense_Mutation_p.D394N|PHLPP2_uc002fay.1_Missense_Mutation_p.D394N	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	394						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ACCACTCTATCTAACATAGTG	0.398000														48			7		0	0	0.001984	0	0
IQUB	154865	broad.mit.edu	37	7	123152009	123152009	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:123152009G>A	uc003vkn.3	-	1	963	c.386C>T	c.(385-387)tCt>tTt	p.S129F	IQUB_uc003vko.3_Missense_Mutation_p.S129F|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Missense_Mutation_p.S129F|IQUB_uc003vkq.2_Missense_Mutation_p.S129F	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	129										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGTTGCTAGAGAATCTTCCAC	0.343000														29			7		0	0	0.001984	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65714719	65714719	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:65714719C>T	uc001ogk.1	+	3	452	c.420C>T	c.(418-420)ttC>ttT	p.F140F	TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA.	141										endometrium(2)|kidney(3)|lung(9)	14						CCTCCTCGTTCTCCCAGCGTC	0.652000														7			3		0	0	0.004672	0	0
RPTN	126638	broad.mit.edu	37	1	152128866	152128866	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152128866C>T	uc001ezs.1	-	2	774	c.709G>A	c.(709-711)Gat>Aat	p.D237N		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	237	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TAATGAGAATCCTGAATTGGT	0.413000														106			60		0	0	0.003610	0	0
RGS22	26166	broad.mit.edu	37	8	101014554	101014554	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:101014554C>T	uc003yjb.1	-	17	2861	c.2666G>A	c.(2665-2667)cGg>cAg	p.R889Q	RGS22_uc003yja.1_Missense_Mutation_p.R708Q|RGS22_uc003yjc.1_Missense_Mutation_p.R877Q|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.R278Q|SNORD77_uc022azg.1_5'Flank	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	889	RGS 1.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGTTATTCTCCGGAACTGCTC	0.318000														28			7		0	0	0.001984	0	0
AFMID	125061	broad.mit.edu	37	17	76201792	76201792	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:76201792C>T	uc002juz.3	+	8	807	c.753C>T	c.(751-753)ttC>ttT	p.F251F	AFMID_uc002jva.3_Silent_p.F251F|AFMID_uc002jvb.3_Intron	NM_001145526	NP_001138998	Q63HM1	AFMID_HUMAN	Homo sapiens arylformamidase (AFMID), transcript variant 1, mRNA.	251						cytosol|nucleus	arylformamidase activity	p.E250K(1)		autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CCCCCGAATTCCACCGACAGT	0.592000														11			21		0	0	0.010504	0	0
RAI1	10743	broad.mit.edu	37	17	17700534	17700534	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:17700534C>T	uc002grm.3	+	2	4741	c.4272C>T	c.(4270-4272)ttC>ttT	p.F1424F	RAI1_uc002grn.1_Silent_p.F1424F	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1424						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CTGACTGTTTCAAAACCGAGG	0.557000														35			29		0	0	0.003271	0	0
OR4S1	256148	broad.mit.edu	37	11	48328680	48328680	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:48328680C>T	uc010rhu.2	+	0	906	c.906C>T	c.(904-906)gtC>gtT	p.V302V		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TGTTTAGGGTCAAGAGGAGCT	0.418000														15			13		0	0	0.001855	0	0
HEPN1	641654	broad.mit.edu	37	11	124789832	124789832	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:124789832C>T	uc001qbj.1	+	0	687	c.186C>T	c.(184-186)tcC>tcT	p.S62S	HEPACAM_uc009zbj.3_3'UTR|HEPACAM_uc001qbk.3_3'UTR	NM_001037558	NP_001032647	Q6WQI6	HEPN1_HUMAN	Homo sapiens hepatocellular carcinoma, down-regulated 1 (HEPN1), mRNA.	62						cytoplasm				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		ACTGCCACTCCTATGAACTGT	0.488000														33			6		0	0	0.001984	0	0
PSG7	5676	broad.mit.edu	37	19	43430759	43430759	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:43430759C>T	uc002ovl.4	-	4	918	c.816G>A	c.(814-816)tgG>tgA	p.W272*	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Nonsense_Mutation_p.W151*	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	273	Ig-like C2-type 2.				female pregnancy	extracellular region							Prostate(69;0.00682)				CATTTAGCCACCAAATGTAGG	0.478000														219			104		0	0	0.003610	0	0
DSG4	147409	broad.mit.edu	37	18	28993139	28993139	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:28993139C>T	uc002kwr.2	+	14	2896	c.2761C>T	c.(2761-2763)Cat>Tat	p.H921Y	DSG4_uc002kwq.2_Missense_Mutation_p.H902Y	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	902					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACCCGTGGTCCATGGGGATAT	0.428000														60			29		0	0	0.008361	0	0
MRPS27	23107	broad.mit.edu	37	5	71516740	71516740	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:71516740G>C	uc011cse.2	-	11	1319	c.1283C>G	c.(1282-1284)gCc>gGc	p.A428G	MRPS27_uc003kca.4_Missense_Mutation_p.A358G|MRPS27_uc003kbz.4_Missense_Mutation_p.A414G|MRPS27_uc011csd.2_Missense_Mutation_p.A195G	NM_015084	NP_055899	Q92552	RT27_HUMAN	Homo sapiens mitochondrial ribosomal protein S27 (MRPS27), nuclear gene encoding mitochondrial protein, mRNA.	414						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		ACCCTATTAGGCAGATGCCTT	0.557000														58			18		0	0	0.010504	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55324656	55324656	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55324656C>T	uc010yfl.2	+	5	810	c.777C>T	c.(775-777)ctC>ctT	p.L259L	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Intron|KIR3DL2_uc002qhf.3_Intron|KIR3DL2_uc002qhg.3_Intron|KIR3DL2_uc002qhi.3_Silent_p.L244L|KIR3DL2_uc021vbn.1_Silent_p.L261L|KIR3DL2_uc002qhh.3_Intron|KIR3DL2_uc002qhj.3_Intron|KIR3DL2_uc010esd.3_Intron|KIR3DL2_uc010ese.3_Non-coding_Transcript	NM_002255	NP_002246	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	359	Ig-like C2-type 3.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CCTTCTTTCTCCTTCATCGCT	0.522000														11			17		0	0	0.007413	0	0
CSMD3	114788	broad.mit.edu	37	8	113518964	113518964	+	Silent	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:113518964A>T	uc003ynu.3	-	28	5010	c.4851T>A	c.(4849-4851)acT>acA	p.T1617T	CSMD3_uc003yns.3_Silent_p.T889T|CSMD3_uc003ynt.3_Silent_p.T1577T|CSMD3_uc011lhx.2_Silent_p.T1513T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1617	CUB 9.					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						TGACGGTGATAGTCCAGTCAC	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				36			8		0	0	0.004482	0	0
CRISP1	167	broad.mit.edu	37	6	49806236	49806236	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:49806236C>T	uc003ozw.2	-	6	615	c.536G>A	c.(535-537)gGa>gAa	p.G179E	CRISP1_uc003ozx.2_Intron|CRISP1_uc021zaj.1_Missense_Mutation_p.G179E	NM_001131	NP_001192149	P54107	CRIS1_HUMAN	Homo sapiens cysteine-rich secretory protein 1 (CRISP1), transcript variant 1, mRNA.	179					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					AGGATCATTTCCCCTTGAATA	0.343000														57			14		0	0	0.001855	0	0
ZNF638	27332	broad.mit.edu	37	2	71650425	71650425	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:71650425G>A	uc002shx.3	+	21	4104	c.3781G>A	c.(3781-3783)Gct>Act	p.A1261T	ZNF638_uc010yqw.1_Missense_Mutation_p.A840T|ZNF638_uc002shz.3_Missense_Mutation_p.A1261T|ZNF638_uc002shy.3_Missense_Mutation_p.A1261T|ZNF638_uc002sia.3_Missense_Mutation_p.A1261T|ZNF638_uc002sib.1_Intron|ZNF638_uc002sic.3_Missense_Mutation_p.A358T|ZNF638_uc002sid.3_Intron	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	1261	Glu-rich.				RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TATGGTAGAAGCTGTAGCTGA	0.393000														38			11		0	0	0.001855	0	0
TGFBI	7045	broad.mit.edu	37	5	135392410	135392410	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:135392410G>A	uc003lbf.4	+	11	1765	c.1604G>A	c.(1603-1605)gGa>gAa	p.G535E	TGFBI_uc003lbg.4_Missense_Mutation_p.G268E|TGFBI_uc003lbh.4_Missense_Mutation_p.G361E|TGFBI_uc011cyb.2_Missense_Mutation_p.G361E	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	535	FAS1 4.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AACCGGGAAGGAGTCTACACA	0.507000														25			11		0	0	0.000978	0	0
FCRL1	115350	broad.mit.edu	37	1	157768003	157768003	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:157768003G>A	uc001frg.3	-	7	1175	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Silent_p.F354F|FCRL1_uc001fri.3_Silent_p.F315F|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	354						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGAGGTAGGTGAACTCTTGGG	0.498000														36			20		0	0	0.010504	0	0
SLC9C2	284525	broad.mit.edu	37	1	173495844	173495844	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:173495844C>T	uc001giz.2	-	18	2746	c.2323G>A	c.(2323-2325)Gaa>Aaa	p.E775K	SLC9C2_uc009wwe.2_Missense_Mutation_p.E333K|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	775					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TCCAAAATTTCACATAGTTTC	0.264000														34			15		0	0	0.004007	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711178	140711178	+	Silent	SNP	C	T	T	rs148638556		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140711178C>T	uc003lji.2	+	0	927	c.927C>T	c.(925-927)ttC>ttT	p.F309F	PCDHGC5_uc011dan.2_Silent_p.F309F	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	310	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F309F(3)		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)			CACTAGATTTCGAAGAATACA	0.373000														18			10		0	0	0.006214	0	0
NAT2	10	broad.mit.edu	37	8	18258007	18258007	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:18258007G>A	uc022asl.1	+	0	494	c.494G>A	c.(493-495)aGg>aAg	p.R165K	NAT2_uc003wyw.1_Missense_Mutation_p.R165K	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	165					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	p.I164T(1)		kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		GACCAAATCAGGAGAGAGCAG	0.403000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					38			8		0	0	0.006214	0	0
CCDC88C	440193	broad.mit.edu	37	14	91875016	91875016	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:91875016T>A	uc010aty.3	-	2	411	c.257A>T	c.(256-258)aAg>aTg	p.K86M	CCDC88C_uc010twk.1_Missense_Mutation_p.K50M|CCDC88C_uc021ryl.1_Missense_Mutation_p.K78M|CCDC88C_uc001xzl.4_Missense_Mutation_p.K86M	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	86					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GTAGTAGGTCTTAATGTTTCT	0.483000														28			5		0	0	0.000602	0	0
FDXR	2232	broad.mit.edu	37	17	72858944	72858944	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:72858944G>A	uc010wrl.2	-	11	1687	c.1600C>T	c.(1600-1602)Cac>Tac	p.H534Y	GRIN2C_uc002jlt.1_5'Flank|GRIN2C_uc010wrh.1_5'Flank|GRIN2C_uc002jlu.1_5'Flank|GRIN2C_uc002jlv.1_5'Flank|FDXR_uc010wri.2_Missense_Mutation_p.H439Y|FDXR_uc010wrj.2_Missense_Mutation_p.H489Y|FDXR_uc002jlw.3_Missense_Mutation_p.H248Y|FDXR_uc002jlx.3_Missense_Mutation_p.H497Y|FDXR_uc002jly.3_Missense_Mutation_p.H491Y|FDXR_uc010wrk.2_Missense_Mutation_p.H522Y|FDXR_uc010wrm.2_Missense_Mutation_p.H451Y|FDXR_uc002jlz.3_Missense_Mutation_p.H483Y|FDXR_uc002jmb.3_Non-coding_Transcript	NM_024417	NP_077728	P22570	ADRO_HUMAN	Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	491					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					TGGGCTCAGTGGCCCAGGAGG	0.682000														45			8		0	0	0.003080	0	0
OTOL1	131149	broad.mit.edu	37	3	161221501	161221501	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:161221501G>A	uc011bpb.2	+	3	1205	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	402	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CGACCTGCTCGAATCAGTCTG	0.468000														9			8		0	0	0.003080	0	0
PKHD1	5314	broad.mit.edu	37	6	51935805	51935805	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:51935805G>A	uc003pah.1	-	9	943	c.667_splice	c.e9+1	p.G223_splice	PKHD1_uc003pai.3_Splice_Site_p.G223_splice	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	223	IPT/TIG 2.		G -> S (in ARPKD).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTAACAGACCGATGTAGTCGC	0.403000														81			13		0	0	0.001855	0	0
RHCE	6006	broad.mit.edu	37	1	25712324	25712324	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:25712324G>A	uc001bkf.3	-	6	1037	c.951C>T	c.(949-951)aaC>aaT	p.N317N	RHCE_uc001bkg.3_Intron|RHCE_uc001bkh.3_Silent_p.N212N|RHCE_uc001bki.3_Silent_p.N166N|RHCE_uc001bkj.3_Silent_p.N301N	NM_020485	NP_065231	P18577	RHCE_HUMAN	Homo sapiens Rh blood group, CcEe antigens (RHCE), transcript variant 1, mRNA.	317						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCACTCGGTTACAACACA	0.517000														86			42		0	0	0.002852	0	0
COL4A3	1285	broad.mit.edu	37	2	228122341	228122341	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:228122341C>T	uc002vom.2	+	17	1172	c.1010C>T	c.(1009-1011)cCt>cTt	p.P337L	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	337	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GACATTGGCCCTCCAGGATTT	0.358000														38			7		0	0	0.004482	0	0
TBX18	9096	broad.mit.edu	37	6	85446758	85446758	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:85446758G>A	uc003pkl.1	-	7	1469	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	TBX18_uc010kbq.2_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	490					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S490S(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGACATTCCCGAAATCTGCAT	0.527000														112			46		0	0	0.003610	0	0
ARAP2	116984	broad.mit.edu	37	4	36126563	36126563	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:36126563T>C	uc003gsq.2	-	21	4005	c.3667A>G	c.(3667-3669)Aaa>Gaa	p.K1223E		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1223	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CCATATTTTTTAATTCTTTCC	0.358000														21			26		0	0	0.007291	0	0
DPYS	1807	broad.mit.edu	37	8	105405184	105405184	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:105405184T>A	uc003yly.4	-	7	1400	c.1271A>T	c.(1270-1272)aAc>aTc	p.N424I	DPYS_uc010mcf.1_5'UTR	NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	424					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.N424N(1)		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)			AATGTTGAAGTTAACAGCCTG	0.413000														47			17		0	0	0.004990	0	0
CFB	629	broad.mit.edu	37	6	31901545	31901545	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:31901545G>A	uc011dor.2	+	2	679	c.415G>A	c.(415-417)Gag>Aag	p.E139K	CFB_uc003nyc.2_Silent_p.R32R|CFB_uc011doo.2_Silent_p.R32R|CFB_uc011dop.2_Missense_Mutation_p.E78K|CFB_uc003nye.4_Missense_Mutation_p.E201K|CFB_uc003nyf.3_Missense_Mutation_p.E201K|CFB_uc010jtk.3_Missense_Mutation_p.E69K|CFB_uc011doq.2_Missense_Mutation_p.E172K	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	215	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GAGTGGAACGGAGCCCATCTG	0.652000														162			76		0	0	0.003610	0	0
SYNE2	23224	broad.mit.edu	37	14	64683061	64683061	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:64683061C>T	uc001xgl.3	+	107	19728	c.19498C>T	c.(19498-19500)Cca>Tca	p.P6500S	SYNE2_uc001xgm.3_Missense_Mutation_p.P6477S|SYNE2_uc010apy.3_Missense_Mutation_p.P2862S|SYNE2_uc001xgn.3_Missense_Mutation_p.P1439S|SYNE2_uc021rui.1_Missense_Mutation_p.P1464S|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.P447S|SYNE2_uc001xgq.3_Missense_Mutation_p.P842S|SYNE2_uc001xgr.3_Missense_Mutation_p.P260S|SYNE2_uc010tsi.2_Missense_Mutation_p.P134S|SYNE2_uc001xgs.3_Missense_Mutation_p.P134S|SYNE2_uc001xgt.3_Missense_Mutation_p.P8S	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6477					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGGAATGTTCCACCTGTTCC	0.493000														52			11		0	0	0.001368	0	0
GRIK2	2898	broad.mit.edu	37	6	102483362	102483362	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:102483362T>G	uc003pqp.4	+	13	2525	c.2232T>G	c.(2230-2232)ttT>ttG	p.F744L	GRIK2_uc010kcw.3_Missense_Mutation_p.F744L|GRIK2_uc003pqo.4_Missense_Mutation_p.F744L|GRIK2_uc021zdk.1_Missense_Mutation_p.F557L|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	744					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.E743Q(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CCATCGAGTTTGTTACCCAGC	0.473000														153			48		0	0	0.003610	0	0
MCF2	4168	broad.mit.edu	37	X	138684654	138684655	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:138684654_138684655CC>TT	uc011mwn.1	-	18	2187_2188	c.2181_2182GG>AA	c.(2179-2184)aaggat>aaAAat	p.D728N	MCF2_uc004fav.3_Missense_Mutation_p.D599N|MCF2_uc004fau.3_Missense_Mutation_p.D583N|MCF2_uc010nsh.2_Missense_Mutation_p.D583N|MCF2_uc011mwm.2_Missense_Mutation_p.D544N|MCF2_uc011mwl.2_Missense_Mutation_p.D560N|MCF2_uc011mwo.1_Missense_Mutation_p.D659N|MCF2_uc004faw.2_Missense_Mutation_p.D643N	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	583	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TGAAAATCATCCTTCTGTGATA	0.332000														14			34		0	0	0.004672	0	0
KLHL13	90293	broad.mit.edu	37	X	117043960	117043960	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:117043960G>A	uc011mtp.2	-	5	812	c.679C>T	c.(679-681)Cct>Tct	p.P227S	KLHL13_uc004eqk.3_Missense_Mutation_p.P173S|KLHL13_uc004eql.3_Missense_Mutation_p.P224S|KLHL13_uc011mtn.2_Missense_Mutation_p.P64S|KLHL13_uc011mto.2_Missense_Mutation_p.P218S|KLHL13_uc011mtq.2_Missense_Mutation_p.P208S|KLHL13_uc004eqm.3_Missense_Mutation_p.P182S|KLHL13_uc022cde.1_Missense_Mutation_p.P208S	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	224	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGCAATGCAGGAAAATTCTTC	0.438000														16			39		0	0	0.006230	0	0
SEC24D	9871	broad.mit.edu	37	4	119666174	119666174	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:119666174G>A	uc003ici.4	-	13	2021	c.1749C>T	c.(1747-1749)tcC>tcT	p.S583S	SEC24D_uc003ich.4_Non-coding_Transcript|SEC24D_uc003icj.4_Silent_p.S584S|SEC24D_uc003icl.2_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	583					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CAGTTGGCAAGGAAGAATGGA	0.398000														23			29		0	0	0.009535	0	0
TAAR6	319100	broad.mit.edu	37	6	132891909	132891909	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:132891909G>A	uc011eck.2	+	0	449	c.449G>A	c.(448-450)gGa>gAa	p.G150E		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA.	150						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TCTGTGTCAGGAATTTGCATC	0.502000														229			29		0	0	0.007291	0	0
SLC35G5	83650	broad.mit.edu	37	8	11188688	11188688	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:11188688C>T	uc003wtp.1	+	0	194	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	Homo sapiens solute carrier family 35, member G5 (SLC35G5), mRNA.	25						integral to membrane		p.L25F(1)									TCCACCCAGCCTCCGCTGGCA	0.667000														53			13		0	0	0.001855	0	0
NCF4	4689	broad.mit.edu	37	22	37272105	37272105	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:37272105C>T	uc003apy.4	+	8	977	c.793C>T	c.(793-795)Ccc>Tcc	p.P265S	NCF4_uc003apz.4_Silent_p.L346L	NM_000631	NP_000622	Q15080	NCF4_HUMAN	Homo sapiens neutrophil cytosolic factor 4, 40kDa (NCF4), transcript variant 1, mRNA.	265					cell communication|immune response|oxidation-reduction process	NADPH oxidase complex|cytosol	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CAGCAGCACTCCCCTATTGAA	0.577000														11			5		0	0	0.000602	0	0
IGHG1	3500	broad.mit.edu	37	14	106208404	106208404	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:106208404C>T	uc001yse.3	-	3	540	c.94G>A	c.(94-96)Gag>Aag	p.E32K	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron					RecName: Full=Ig gamma-1 chain C region;																		TTATGCACCTCCACGCCGTCC	0.602000														112			35		0	0	0.005524	0	0
LAMA1	284217	broad.mit.edu	37	18	7044747	7044747	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:7044747G>A	uc002knm.3	-	6	1044	c.950C>T	c.(949-951)aCc>aTc	p.T317I	LAMA1_uc010wzj.2_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	317	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAGGACACGGTTCCCGGCCT	0.473000														60			22		0	0	0.003330	0	0
IRAK2	3656	broad.mit.edu	37	3	10276308	10276308	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:10276308C>T	uc003bve.1	+	10	1514	c.1438C>T	c.(1438-1440)Ctg>Ttg	p.L480L		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	480	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GGCTGCCTGCCTGTGCCTGCG	0.697000														42			27		0	0	0.003271	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37964701	37964701	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:37964701C>T	uc003asz.4	+	2	1453	c.1050C>T	c.(1048-1050)tcC>tcT	p.S350S		NM_152243	NP_689449	Q00587	BORG5_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.	350					positive regulation of pseudopodium assembly|regulation of cell shape	Golgi apparatus|actin cytoskeleton|endomembrane system|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CCCGGGCCTCCTGGGAGAGCC	0.672000														16			11		0	0	0.008291	0	0
CMTM7	112616	broad.mit.edu	37	3	32483433	32483433	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:32483433G>A	uc003cey.1	+	1	497	c.261G>A	c.(259-261)atG>atA	p.M87I	CMTM7_uc003cez.1_Missense_Mutation_p.M87I	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 7 (CMTM7), transcript variant 1, mRNA.	87	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(2)	4						ACTTGATAATGATCCTCGCCT	0.557000														83			40		0	0	0.007835	0	0
ANXA13	312	broad.mit.edu	37	8	124748070	124748070	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:124748070C>T	uc003yqt.3	-	1	136	c.63G>A	c.(61-63)ggG>ggA	p.G21G	ANXA13_uc003yqu.3_Intron	NM_001003954	NP_001003954	P27216	ANX13_HUMAN	Homo sapiens annexin A13 (ANXA13), transcript variant 2, mRNA.	0					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			GTTGGGAGTCCCCTTTAGGCA	0.517000														57			28		0	0	0.006320	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39109260	39109260	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:39109260G>A	uc004abi.3	-	14	2501	c.2262C>T	c.(2260-2262)tcC>tcT	p.S754S	CNTNAP3_uc004abj.3_Silent_p.S753S|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.S754S	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	754	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GCTCCTTTTGGGAAAGGACTA	0.463000														16			4		0	0	0.009096	0	0
NLRP4	147945	broad.mit.edu	37	19	56369963	56369963	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:56369963C>T	uc002qmd.4	+	2	1626	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L	NLRP4_uc002qmf.3_Silent_p.L327L|NLRP4_uc010etf.3_Silent_p.L233L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	402	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCTGTGCTCCCTGGCTGCAGA	0.572000														72			35		0	0	0.007835	0	0
DSG3	1830	broad.mit.edu	37	18	29049230	29049230	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:29049230G>A	uc002kws.3	+	11	1924	c.1815G>A	c.(1813-1815)ggG>ggA	p.G605G		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	605					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)			CAAGCCCTGGGACCAGGTATG	0.587000														41			26		0	0	0.003954	0	0
ZNF133	7692	broad.mit.edu	37	20	18295808	18295808	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:18295808C>T	uc010zrv.1	+	4	525	c.322C>T	c.(322-324)Ccc>Tcc	p.P108S	ZNF133_uc010gcq.2_Missense_Mutation_p.P105S|ZNF133_uc010zrw.1_Missense_Mutation_p.P42S|ZNF133_uc010gcr.2_Missense_Mutation_p.P105S|ZNF133_uc010zrx.1_Missense_Mutation_p.P10S|ZNF133_uc002wql.4_Missense_Mutation_p.P104S|ZNF133_uc010gcs.3_Missense_Mutation_p.P104S|ZNF133_uc010zry.2_Missense_Mutation_p.P10S|ZNF133_uc002wqm.2_Missense_Mutation_p.P105S	NM_003434	NP_003425	P52736	ZN133_HUMAN	Homo sapiens zinc finger protein 133 (ZNF133), transcript variant 1, mRNA.	105						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TAATCATCCCCCCTGGATCTT	0.572000														64			16		0	0	0.004990	0	0
SLC35G5	83650	broad.mit.edu	37	8	11189494	11189494	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:11189494C>T	uc003wtp.1	+	0	1000	c.879C>T	c.(877-879)gcC>gcT	p.A293A		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	Homo sapiens solute carrier family 35, member G5 (SLC35G5), mRNA.	293	DUF6 2.					integral to membrane											TGGTTGTGGCCCTTATACTGC	0.572000														81			52		0	0	0.003610	0	0
GPR116	221395	broad.mit.edu	37	6	46821784	46821784	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:46821784T>C	uc003oyo.3	-	20	4275	c.3986A>G	c.(3985-3987)gAa>gGa	p.E1329G	GPR116_uc011dwj.1_Missense_Mutation_p.E884G|GPR116_uc011dwk.1_3'UTR|GPR116_uc003oyp.3_Missense_Mutation_p.E1187G|GPR116_uc003oyq.3_Missense_Mutation_p.E1329G	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1329					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)			GCTGGTTGCTTCTGGGGTGGA	0.498000														98			51		0	0	0.003610	0	0
FAM81B	153643	broad.mit.edu	37	5	94749851	94749851	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:94749851A>G	uc003kla.1	+	3	540	c.494A>G	c.(493-495)cAg>cGg	p.Q165R	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	165										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AGCCACATCCAGACCATCACC	0.448000														26			6		0	0	0.004482	0	0
C6orf70	55780	broad.mit.edu	37	6	170156440	170156440	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:170156440C>T	uc003qxg.1	+	3	355	c.322C>T	c.(322-324)Cct>Tct	p.P108S	C6orf70_uc011ehb.1_5'UTR|C6orf70_uc003qxh.1_Missense_Mutation_p.P108S|C6orf70_uc010kky.1_5'UTR	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA.	108						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		ATAGTTATTTCCTGAAATATT	0.333000														32			17		0	0	0.007413	0	0
C18orf62	284274	broad.mit.edu	37	18	73130767	73130767	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:73130767C>T	uc002lma.1	-	1	305	c.234G>A	c.(232-234)tgG>tgA	p.W78*	C18orf62_uc010dqw.1_Intron|C18orf62_uc002lmb.1_Non-coding_Transcript	NM_001037331	NP_001032408	Q3B7S5	CR062_HUMAN	Homo sapiens chromosome 18 open reading frame 62 (C18orf62), mRNA.	78						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Esophageal squamous(42;0.131)|Prostate(75;0.155)		OV - Ovarian serous cystadenocarcinoma(15;6.21e-06)		tggcccttttccagtcttcag	0.363000														43			40		0	0	0.003610	0	0
PARM1	25849	broad.mit.edu	37	4	75938106	75938106	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:75938106C>T	uc003hih.2	+	1	768	c.515C>T	c.(514-516)tCc>tTc	p.S172F		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	172					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TTTTCTGCCTCCGTTACTACC	0.582000														81			49		0	0	0.003610	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561247	44561247	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:44561247C>T	uc002lcr.1	-	0	742	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	130					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.R130W(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCGTGCTGTCCGTCTGTGCTC	0.637000														106			18		0	0	0.007413	0	0
ATP4A	495	broad.mit.edu	37	19	36050758	36050758	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:36050758G>A	uc002oal.1	-	6	1034	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	335					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CGATGGCCATGAAGAAGACCA	0.602000														27			6		0	0	0.001168	0	0
WFS1	7466	broad.mit.edu	37	4	6303779	6303779	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:6303779G>A	uc003giy.3	+	7	2423	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K	WFS1_uc003gix.3_Missense_Mutation_p.E753K|WFS1_uc003giz.3_Missense_Mutation_p.E571K	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	753					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGCCGAGGAGGAGCTCTGTCG	0.607000														122			45		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9077766	9077766	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9077766G>A	uc002mkp.3	-	2	9884	c.9680C>T	c.(9679-9681)tCt>tTt	p.S3227F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3228	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						CTTCCAAGGAGAATTTCTCAC	0.527000														122			47		0	0	0.002522	0	0
GINS2	51659	broad.mit.edu	37	16	85721180	85721180	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:85721180C>T	uc002fja.3	-	2	175	c.91_splice	c.e2-1	p.G31_splice	GINS2_uc002fjb.2_Splice_Site_p.G31_splice	NM_016095	NP_057179	Q9Y248	PSF2_HUMAN	Homo sapiens GINS complex subunit 2 (Psf2 homolog) (GINS2), mRNA.	31					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)	6						CCCAGGTCCCCCTGCCAAAAG	0.478000														36			10		0	0	0.006214	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279266	47279266	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:47279266G>A	uc001cqn.4	+	4	692	c.608G>A	c.(607-609)gGc>gAc	p.G203D	CYP4B1_uc009vyl.1_Missense_Mutation_p.G40D|CYP4B1_uc001cqm.4_Missense_Mutation_p.G203D|CYP4B1_uc009vym.3_Missense_Mutation_p.G188D|CYP4B1_uc010omk.2_Missense_Mutation_p.G40D|CYP4B1_uc010oml.1_Missense_Mutation_p.G40D	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	203					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GGAGACACCGGCCTGGGCCAC	0.582000														30			10		0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179403727	179403727	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179403727C>T	uc021vsy.1	-	301	91456	c.91231G>A	c.(91231-91233)Ggc>Agc	p.G30411S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G24106S|TTN_uc021vta.1_Missense_Mutation_p.G24039S|TTN_uc021vtb.1_Missense_Mutation_p.G23914S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31338	Ig-like 137.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACTCAGGCCAACATCATTC	0.463000														27			10		0	0	0.000978	0	0
ROBO2	6092	broad.mit.edu	37	3	77644301	77644301	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:77644301C>T	uc011bgk.2	+	18	3347	c.2704C>T	c.(2704-2706)Caa>Taa	p.Q902*	ROBO2_uc021xat.1_Nonsense_Mutation_p.Q914*|ROBO2_uc003dpy.4_Nonsense_Mutation_p.Q898*|ROBO2_uc003dpz.3_Nonsense_Mutation_p.Q902*|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Nonsense_Mutation_p.Q25*	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	898					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)		AGTTACGTTTCAAAGAGGAGA	0.318000														29			7		0	0	0.006214	0	0
FAM179A	165186	broad.mit.edu	37	2	29245121	29245121	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:29245121G>A	uc010ezl.3	+	10	1809	c.1458G>A	c.(1456-1458)tcG>tcA	p.S486S	FAM179A_uc010ymm.2_Silent_p.S431S|FAM179A_uc002rmr.4_Silent_p.S13S	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	486							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGCCTTTCTCGAACCCGGAGC	0.572000														32			21		0	0	0.010504	0	0
XIRP2	129446	broad.mit.edu	37	2	168107877	168107877	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:168107877C>T	uc002udx.3	+	8	10064	c.9975C>T	c.(9973-9975)ttC>ttT	p.F3325F	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.F3150F|XIRP2_uc010fpq.3_Silent_p.F3103F|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3150					actin cytoskeleton organization	cell junction	actin binding	p.F3325V(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGAAAATTTCGTGAATGACC	0.448000														53			19		0	0	0.006122	0	0
SULT4A1	25830	broad.mit.edu	37	22	44237795	44237795	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:44237795C>T	uc003bee.1	-	1	303	c.187G>A	c.(187-189)Gag>Aag	p.E63K	SULT4A1_uc003bed.1_5'UTR|SULT4A1_uc003bef.1_Non-coding_Transcript|SULT4A1_uc011aqb.1_Intron	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN	Homo sapiens sulfotransferase family 4A, member 1 (SULT4A1), mRNA.	63					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		TAGACCACCTCCTGCAGCAAG	0.677000														24			8		0	0	0.006214	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19126433	19126433	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:19126433C>T	uc002dfu.4	+	0	1180	c.650C>T	c.(649-651)cCa>cTa	p.P217L	ITPRIPL2_uc002dft.3_5'UTR	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 2 (ITPRIPL2), transcript variant 1, mRNA.	217						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCACCCTCACCATCGGGGGCC	0.697000											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			15		0	0	0.004007	0	0
CCDC144A	9720	broad.mit.edu	37	17	16593718	16593718	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:16593718G>A	uc002gqk.1	+	0	80	c.4G>A	c.(4-6)Gcc>Acc	p.A2T		NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	2																	GCTACTGATGGCCTCCTGGGG	0.647000														3			4		0	0	0.009096	0	0
NEB	4703	broad.mit.edu	37	2	152483634	152483634	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:152483634G>A	uc021vrb.1	-	64	9529	c.9500C>T	c.(9499-9501)gCt>gTt	p.A3167V	NEB_uc002txu.3_Missense_Mutation_p.A3410V|NEB_uc021vrc.1_Missense_Mutation_p.A3410V|NEB_uc010fnx.3_Missense_Mutation_p.A3155V|NEB_uc021vrd.1_Missense_Mutation_p.A3167V	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3167					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	p.A3167S(1)		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)		TATTTCAGCAGCTCTCTTGCA	0.483000														47			8		0	0	0.004482	0	0
ADAM19	8728	broad.mit.edu	37	5	156991385	156991385	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:156991385T>A	uc003lwz.3	-	2	326	c.247A>T	c.(247-249)Aat>Tat	p.N83Y	ADAM19_uc003lww.2_5'UTR|ADAM19_uc011ddr.1_Missense_Mutation_p.N14Y	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	83					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACTTACTCATTCTTCTCCAGG	0.468000														52			27		0	0	0.002096	0	0
TJP2	9414	broad.mit.edu	37	9	71845108	71845108	+	Missense_Mutation	SNP	C	G	G	rs142684074		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:71845108C>G	uc004ahe.3	+	10	1949	c.1631C>G	c.(1630-1632)gCg>gGg	p.A544G	TJP2_uc011lrs.2_Missense_Mutation_p.A521G|TJP2_uc011lrt.1_Missense_Mutation_p.A521G|TJP2_uc004ahd.3_Missense_Mutation_p.A544G|TJP2_uc004ahf.3_Missense_Mutation_p.A544G|TJP2_uc011lru.2_Missense_Mutation_p.A548G|TJP2_uc011lrv.2_Missense_Mutation_p.A575G	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA.	544	PDZ 3.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GGGACCTCGGCGGAGCAGGAG	0.512000														42			22		0	0	0.004656	0	0
PSD2	84249	broad.mit.edu	37	5	139221957	139221957	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:139221957G>A	uc003leu.1	+	14	2419	c.2214G>A	c.(2212-2214)ggG>ggA	p.G738G		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	738					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGGAAGGGGATGACCCTT	0.547000														25			12		0	0	0.000978	0	0
IMPG2	50939	broad.mit.edu	37	3	100962396	100962396	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:100962396G>A	uc003duq.2	-	12	2982	c.2779C>T	c.(2779-2781)Ctg>Ttg	p.L927L	IMPG2_uc011bhe.2_Silent_p.L790L	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	927	SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CTTTGCTCCAGGGCTTTATAC	0.413000														20			7		0	0	0.004482	0	0
CFHR5	81494	broad.mit.edu	37	1	196952085	196952085	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196952085C>T	uc001gts.4	+	1	257	c.129C>T	c.(127-129)tcC>tcT	p.S43S		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	43	Sushi 1.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ACCCTTTTTCCCAAGTTCCTA	0.348000														49			23		0	0	0.002299	0	0
CD1E	913	broad.mit.edu	37	1	158326570	158326570	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158326570G>A	uc001fse.3	+	5	1344	c.1051G>A	c.(1051-1053)Gga>Aga	p.G351R	CD1E_uc001fsh.3_Missense_Mutation_p.G150R|CD1E_uc001fry.3_Missense_Mutation_p.G284R|CD1E_uc001fsf.3_Missense_Mutation_p.G339R|CD1E_uc001fsg.3_3'UTR|CD1E_uc009wsv.3_Missense_Mutation_p.G252R|CD1E_uc001fsj.3_Missense_Mutation_p.G194R|CD1E_uc001fsk.3_Missense_Mutation_p.G261R|CD1E_uc001fsa.3_Missense_Mutation_p.G107R|CD1E_uc001fsd.3_3'UTR|CD1E_uc001frz.3_Missense_Mutation_p.G249R|CD1E_uc010pig.2_Missense_Mutation_p.G95R|CD1E_uc001fsc.3_Missense_Mutation_p.G162R|CD1E_uc021pbm.1_Non-coding_Transcript|CD1E_uc009wsw.3_Nonsense_Mutation_p.W65*	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	351					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CTTTCTCATGGGAGCCAACAC	0.433000														40			24		0	0	0.002299	0	0
ZNF600	162966	broad.mit.edu	37	19	53269440	53269440	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:53269440C>T	uc002qab.4	-	2	1855	c.1569G>A	c.(1567-1569)gaG>gaA	p.E523E	ZNF600_uc021uyz.1_Silent_p.E523E	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TGTAAGGTTTCTCACCACTAT	0.443000														112			12		0	0	0.001855	0	0
OSBPL6	114880	broad.mit.edu	37	2	179238682	179238682	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179238682C>T	uc002uly.3	+	15	2080	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	OSBPL6_uc002ulw.3_Silent_p.S420S|OSBPL6_uc002ulx.3_Silent_p.S487S|OSBPL6_uc010zfe.2_Silent_p.S456S|OSBPL6_uc002ulz.3_Silent_p.S451S|OSBPL6_uc002uma.3_Silent_p.S491S	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	487					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GCCGCCTCTCCATGTCAGAGT	0.488000														43			20		0	0	0.010504	0	0
TNN	63923	broad.mit.edu	37	1	175096203	175096203	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:175096203C>T	uc001gkl.1	+	12	3140	c.3027C>T	c.(3025-3027)ttC>ttT	p.F1009F		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1009	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTTACCAGTTCCCAGATGGCA	0.517000														59			39		0	0	0.008740	0	0
KLHL38	340359	broad.mit.edu	37	8	124658100	124658100	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:124658100G>A	uc003yqs.1	-	2	1649	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	542										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GCAATCGAAGGAGGCGGAGTC	0.617000														62			20		0	0	0.008871	0	0
TYR	7299	broad.mit.edu	37	11	88961003	88961003	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:88961003C>T	uc001pcs.3	+	2	1131	c.1049C>T	c.(1048-1050)cCa>cTa	p.P350L		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	350					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TTTGCTAGTCCACTTACTGGG	0.363000														24			11		0	0	0.001855	0	0
DEFA6	1671	broad.mit.edu	37	8	6782399	6782399	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:6782399C>T	uc003wqt.3	-	1	285	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_001926	NP_001917	Q01524	DEF6_HUMAN	Homo sapiens defensin, alpha 6, Paneth cell-specific (DEFA6), mRNA.	82					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TAGGAATATTCTGTTGAATAA	0.448000														45			23		0	0	0.003954	0	0
TAF1L	138474	broad.mit.edu	37	9	32630383	32630383	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:32630383G>A	uc003zrg.1	-	0	5285	c.5195C>T	c.(5194-5196)cCt>cTt	p.P1732L		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1732					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGGAGGCTTAGGTTTCCCATC	0.507000														75			59		0	0	0.003610	0	0
NFIX	4784	broad.mit.edu	37	19	13184830	13184830	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:13184830C>T	uc010xmx.2	+	4	885	c.832C>T	c.(832-834)Cct>Tct	p.P278S	NFIX_uc002mwd.3_Missense_Mutation_p.P270S|NFIX_uc002mwe.3_Missense_Mutation_p.P262S|NFIX_uc002mwf.3_Missense_Mutation_p.P273S|NFIX_uc002mwg.2_Missense_Mutation_p.P269S			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	270					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.R277H(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CACCTCCCCTCCTTCCACCAG	0.622000														48			33		0	0	0.004878	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149008485	149008485	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:149008485G>A	uc003lra.1	+	11	1838	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA.	592					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TCTAACACCGGAGCCCAGCCC	0.612000														22			5		0	0	0.001168	0	0
KCNH2	3757	broad.mit.edu	37	7	150648587	150648587	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:150648587G>A	uc003wic.3	-	6	2295	c.1894C>T	c.(1894-1896)Ccc>Tcc	p.P632S	KCNH2_uc003wib.3_Missense_Mutation_p.P292S|KCNH2_uc011kux.2_Missense_Mutation_p.P536S|KCNH2_uc003wid.3_Missense_Mutation_p.P292S|KCNH2_uc003wie.3_Missense_Mutation_p.P632S	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	632			P -> S (in LQT2).		blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TTGGTGTTGGGAGAGACGTTG	0.622000														54			41		0	0	0.006999	0	0
OR2D2	120776	broad.mit.edu	37	11	6913584	6913584	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:6913584G>A	uc010rau.2	-	0	148	c.148C>T	c.(148-150)Cat>Tat	p.H50Y		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAGTCAACATGAACAAGGGAG	0.458000														26			9		0	0	0.004482	0	0
FCGBP	8857	broad.mit.edu	37	19	40384098	40384098	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:40384098G>A	uc002omp.4	-	20	9520	c.9512C>T	c.(9511-9513)cCt>cTt	p.P3171L		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	3171	TIL 7.					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)			AAGGGGTGCAGGGGACGGACA	0.632000														286			38		0	0	0.003610	0	0
ROS1	6098	broad.mit.edu	37	6	117662585	117662585	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:117662585C>T	uc003pxp.1	-	28	5079	c.4880G>A	c.(4879-4881)gGt>gAt	p.G1627D	ROS1_uc011ebi.1_Intron|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1627	Fibronectin type-III 7.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.S1626C(1)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AATATTTCCACCAGACAGTCT	0.398000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									52			10		0	0	0.006214	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73149396	73149396	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:73149396G>A	uc003hgk.2	-	21	3112	c.3075C>T	c.(3073-3075)tcC>tcT	p.S1025S		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	1025	PLAC.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GACAGAATATGGACTTGTCTC	0.368000														25			14		0	0	0.003163	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962509	73962509	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:73962509C>T	uc004eby.3	-	2	2500	c.1883G>A	c.(1882-1884)cGa>cAa	p.R628Q		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	628					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTAGATTTTCGTTTGCGAGC	0.418000														6			8		0	0	0.003080	0	0
DPF2	5977	broad.mit.edu	37	11	65108524	65108524	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:65108524C>T	uc001odm.3	+	2	414	c.281C>T	c.(280-282)tCc>tTc	p.S94F	DPF2_uc010roe.2_Missense_Mutation_p.S94F	NM_006268	NP_006259	Q92785	REQU_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 2 (DPF2), mRNA.	94					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CCACGACTTTCCTTCCCATCT	0.587000														27			21		0	0	0.006320	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	120604	120604	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrGL000209.1:120604C>T	uc010yie.2	+	3	567	c.556C>T	c.(556-558)Cct>Tct	p.P186S	KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Missense_Mutation_p.P183S|KIR2DL2_uc002qum.3_Missense_Mutation_p.P186S	NM_014512	NP_055327	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA.	186	Ig-like C2-type 2.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										GGCCAACTTTCCTCTGGGCCC	0.557000														28			44		0	0	0.002852	0	0
CPNE8	144402	broad.mit.edu	37	12	39161474	39161474	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:39161474G>A	uc001rls.1	-	7	622	c.538C>T	c.(538-540)Cct>Tct	p.P180S		NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	Homo sapiens copine VIII (CPNE8), mRNA.	180	C2 2.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				ACAAGGAAAGGATCTGATTTT	0.289000														31			27		0	0	0.009535	0	0
ADAM33	80332	broad.mit.edu	37	20	3655221	3655221	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:3655221C>T	uc002wit.3	-	5	617	c.530G>A	c.(529-531)gGa>gAa	p.G177E	ADAM33_uc002wir.1_Missense_Mutation_p.G177E|ADAM33_uc002wis.3_5'Flank|ADAM33_uc002wiu.3_Missense_Mutation_p.G177E|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.G189E|ADAM33_uc010zqh.1_Missense_Mutation_p.G177E	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	177					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GCCACAGGTTCCTTTCCAGGT	0.607000														76			23		0	0	0.004656	0	0
AMY2A	279	broad.mit.edu	37	1	104160673	104160673	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:104160673G>A	uc001dut.3	+	1	330	c.266G>A	c.(265-267)gGa>gAa	p.G89E	AMY2A_uc010ouq.1_Missense_Mutation_p.G89E	NM_000699	NP_000690	P04746	AMYP_HUMAN	Homo sapiens amylase, alpha 2A (pancreatic) (AMY2A), mRNA.	89					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	ACAAGATCTGGAAATGAAGAT	0.353000														104			48		0	0	0.003610	0	0
NMUR2	56923	broad.mit.edu	37	5	151784180	151784180	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:151784180C>T	uc003luv.2	-	0	661	c.495G>A	c.(493-495)agG>agA	p.R165R		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	165					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	p.L164I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			TGCCGAGGATCCTGAGGGCCC	0.637000														27			6		0	0	0.001168	0	0
CTSE	1510	broad.mit.edu	37	1	206319208	206319209	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:206319208_206319209CC>TT	uc001hdu.3	+	2	451_452	c.333_334CC>TT	c.(331-336)agccca>agTTca	p.P112S	CTSE_uc001hdv.3_Missense_Mutation_p.P112S|CTSE_uc010prs.2_Missense_Mutation_p.P37S	NM_001910	NP_001901	P14091	CATE_HUMAN	Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA.	112					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			ACTGCACTAGCCCAGCCTGCAG	0.594000														26			12		0	0	0.004672	0	0
ACAA2	10449	broad.mit.edu	37	18	47323960	47323960	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:47323960G>A	uc002ldw.4	-	2	585	c.188C>T	c.(187-189)tCt>tTt	p.S63F		NM_006111	NP_006102	P42765	THIM_HUMAN	Homo sapiens acetyl-CoA acyltransferase 2 (ACAA2), nuclear gene encoding mitochondrial protein, mRNA.	63					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						AGCATCTGAAGAACTCTAGAA	0.373000														16			8		0	0	0.003080	0	0
PLA2R1	22925	broad.mit.edu	37	2	160824073	160824073	+	Nonsense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:160824073C>A	uc002ube.2	-	19	3093	c.2881G>T	c.(2881-2883)Gga>Tga	p.G961*	PLA2R1_uc010zcp.2_Nonsense_Mutation_p.G961*|PLA2R1_uc002ubf.3_Nonsense_Mutation_p.G961*	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	961					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TATAGCCATCCTTTGGGACAC	0.343000														52			22		1.85244e-09	2.03755e-09	0.003330	1	0
TEX15	56154	broad.mit.edu	37	8	30699874	30699874	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:30699874C>T	uc003xil.3	-	0	6660	c.6660G>A	c.(6658-6660)agG>agA	p.R2220R		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2220										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTAAATCTTTCCTAGGGGCAG	0.338000														59			19		0	0	0.006122	0	0
TAT	6898	broad.mit.edu	37	16	71606461	71606461	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:71606461C>T	uc002fap.2	-	4	638	c.539G>A	c.(538-540)gGa>gAa	p.G180E		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	180					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	GACCTCAATTCCCATAGACTC	0.388000														32			14		0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179428325	179428325	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179428325C>T	uc021vsy.1	-	274	75055	c.74830G>A	c.(74830-74832)Gaa>Aaa	p.E24944K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E18639K|TTN_uc021vta.1_Missense_Mutation_p.E18572K|TTN_uc021vtb.1_Missense_Mutation_p.E18447K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25871							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)			CTAACGCCTTCCTTATCTCGT	0.468000														80			37		0	0	0.003755	0	0
DHX30	22907	broad.mit.edu	37	3	47887831	47887831	+	Silent	SNP	G	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:47887831G>C	uc003cru.3	+	10	1695	c.1269G>C	c.(1267-1269)cgG>cgC	p.R423R	DHX30_uc003crt.3_Silent_p.R384R	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	423						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGTGGCGGCGGCGAGGGCCGG	0.632000														49			38		0	0	0.004878	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490991	141490991	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:141490991C>T	uc003vwr.1	+	0	975	c.830C>T	c.(829-831)cCt>cTt	p.P277L		NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN	Homo sapiens taste receptor, type 2, member 5 (TAS2R5), mRNA.	277					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					ATGGGGATTCCTAGGGTGAAG	0.498000														101			49		0	0	0.003610	0	0
COL4A1	1282	broad.mit.edu	37	13	110827673	110827673	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:110827673G>A	uc001vqw.4	-	36	3212	c.3090C>T	c.(3088-3090)atC>atT	p.I1030I		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1030	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.G1029C(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GTGGGCCAGGGATGCCAGGCA	0.512000														26			20		0	0	0.008871	0	0
SORCS1	114815	broad.mit.edu	37	10	108366964	108366964	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:108366964G>A	uc001kyl.3	-	22	3307	c.3125C>T	c.(3124-3126)cCa>cTa	p.P1042L	SORCS1_uc021pxw.1_Missense_Mutation_p.P1042L|SORCS1_uc009xxs.3_Missense_Mutation_p.P1042L|SORCS1_uc001kym.3_Missense_Mutation_p.P1042L|SORCS1_uc001kyn.2_Missense_Mutation_p.P1042L|SORCS1_uc001kyo.3_Missense_Mutation_p.P1042L	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	1042						integral to membrane	neuropeptide receptor activity|protein binding	p.D1041N(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TTCTCCAGCTGGATCCTGATA	0.542000														35			11		0	0	0.008291	0	0
TDRD6	221400	broad.mit.edu	37	6	46660326	46660326	+	Silent	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:46660326T>A	uc003oyj.3	+	0	4715	c.4461T>A	c.(4459-4461)ctT>ctA	p.L1487L	TDRD6_uc010jze.3_Silent_p.L1487L	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1487					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAGTAGAACTTTCTACCCAAG	0.343000														44			25		0	0	0.003954	0	0
PRG4	10216	broad.mit.edu	37	1	186278982	186278982	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:186278982G>A	uc001gru.4	+	7	3530	c.3479G>A	c.(3478-3480)gGg>gAg	p.G1160E	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.G1119E|PRG4_uc009wyl.3_Missense_Mutation_p.G1067E|PRG4_uc009wym.3_Missense_Mutation_p.G1026E|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	1160	Hemopexin-like 1.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TTGCGCAATGGGACATTAGTT	0.363000														74			23		0	0	0.003330	0	0
SPTBN2	6712	broad.mit.edu	37	11	66475083	66475083	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:66475083C>T	uc001ojd.3	-	11	1629	c.1557G>A	c.(1555-1557)atG>atA	p.M519I		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	519					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGGCGGCCACCATCTGCCGCA	0.647000														27			12		0	0	0.001368	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160738809	160738809	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:160738809C>T	uc002ubb.4	-	6	1146	c.1072G>A	c.(1072-1074)Gat>Aat	p.D358N	LY75-CD302_uc010fos.3_Missense_Mutation_p.D358N|LY75-CD302_uc002ubc.4_Missense_Mutation_p.D358N|LY75-CD302_uc010fot.2_Missense_Mutation_p.D358N	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	358					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										CAGCGGGTATCTGAGTATGTC	0.388000														68			11		0	0	0.001368	0	0
RBM5	10181	broad.mit.edu	37	3	50155853	50155853	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:50155853G>A	uc003cyg.3	+	24	2587	c.2412G>A	c.(2410-2412)cgG>cgA	p.R804R	RBM5_uc011bdk.2_Silent_p.R632R|RBM5_uc003cyh.3_Silent_p.R261R|AK125500_uc003cyi.1_Intron	NM_005778	NP_005769	P52756	RBM5_HUMAN	Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA.	804	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATGCTGTCCGGAAAGCCATGT	0.537000														17			14		0	0	0.004007	0	0
PCLO	27445	broad.mit.edu	37	7	82581291	82581291	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82581291G>A	uc003uhx.2	-	4	9267	c.8978C>T	c.(8977-8979)tCc>tTc	p.S2993F	PCLO_uc003uhv.2_Missense_Mutation_p.S2993F|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2924					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						GTCAGACATGGAAGGCTTCAT	0.403000														136			56		0	0	0.003610	0	0
PPRC1	23082	broad.mit.edu	37	10	103900612	103900612	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:103900612C>T	uc001kum.3	+	4	2386	c.2347C>T	c.(2347-2349)Cca>Tca	p.P783S	PPRC1_uc001kun.3_Missense_Mutation_p.P663S|PPRC1_uc010qqj.2_Missense_Mutation_p.P783S|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	783	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCCTAGCCTTCCAGAGACTCC	0.577000														34			7		0	0	0.003080	0	0
ARPP21	10777	broad.mit.edu	37	3	35833970	35833970	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:35833970G>A	uc011axy.2	+	17	2344	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E	ARPP21_uc003cga.3_Missense_Mutation_p.G691E|ARPP21_uc003cgb.3_Missense_Mutation_p.G710E|ARPP21_uc003cgf.3_Missense_Mutation_p.G546E|ARPP21_uc003cgg.3_Missense_Mutation_p.G233E	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	710	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AACCAACAAGGAACTCCGGTG	0.463000														42			18		0	0	0.006122	0	0
KCNG1	3755	broad.mit.edu	37	20	49626804	49626804	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:49626804G>A	uc002xwa.4	-	1	367	c.72C>T	c.(70-72)ttC>ttT	p.F24F	KCNG1_uc002xwb.3_Silent_p.F24F	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	24						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGGCCGGGTGGAAGGAGGCGT	0.677000														29			8		0	0	0.004482	0	0
SOS1	6654	broad.mit.edu	37	2	39222341	39222341	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:39222341G>A	uc002rrk.4	-	19	3310	c.3269C>T	c.(3268-3270)cCg>cTg	p.P1090L	SOS1_uc002rrj.4_Missense_Mutation_p.P704L	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	1090					Ras protein signal transduction|apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	cytosol	DNA binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding	p.L1087_P1089delLTP(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AGAAGCAGGCGGAGGTGTTAA	0.443000									Noonan syndrome					35			28		0	0	0.008361	0	0
ZNF90	7643	broad.mit.edu	37	19	20215171	20215171	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:20215171C>T	uc002nor.2	+	1	266	c.127C>T	c.(127-129)Ctt>Ttt	p.L43F	ZNF90_uc021url.1_Intron	NM_007138	NP_009069	Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.	43	KRAB.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						CCTGGTCTTCCTTGGTGAGGA	0.373000														47			12		0	0	0.001855	0	0
NPHP4	261734	broad.mit.edu	37	1	5923956	5923956	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:5923956G>A	uc001alq.2	-	28	4402	c.4134C>T	c.(4132-4134)tcC>tcT	p.S1378S	MIR4689_uc021ofn.1_5'Flank|NPHP4_uc001alr.1_3'UTR	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	1378					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		ACACCTGGAAGGAGTCCTCTC	0.602000														41			12		0	0	0.000978	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735698	55735698	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55735698C>T	uc010rit.2	-	0	242	c.242G>A	c.(241-243)gGa>gAa	p.G81E		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G81E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AGAAATATTTCCTTTCTGAGT	0.383000														36			15		0	0	0.004990	0	0
DLG2	1740	broad.mit.edu	37	11	83170872	83170872	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:83170872C>T	uc001paj.2	-	22	2905	c.2602G>A	c.(2602-2604)Gaa>Aaa	p.E868K	DLG2_uc001pai.2_Missense_Mutation_p.E747K|DLG2_uc010rsy.1_Missense_Mutation_p.E817K|DLG2_uc021qof.1_Missense_Mutation_p.E907K|DLG2_uc010rsz.1_Missense_Mutation_p.E864K|DLG2_uc010rta.1_Missense_Mutation_p.E850K|DLG2_uc001pak.2_Missense_Mutation_p.E973K|DLG2_uc010rsx.1_Missense_Mutation_p.E345K|DLG2_uc010rsw.1_Missense_Mutation_p.E332K	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	868						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TATAACTTTTCCTTTGAGGGA	0.353000														29			12		0	0	0.004007	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596614	24596614	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:24596614G>A	uc011djo.2	-	2	788	c.288C>T	c.(286-288)atC>atT	p.I96I	KIAA0319_uc011djp.2_Silent_p.I51I|KIAA0319_uc003neh.1_Silent_p.I96I|KIAA0319_uc011djq.1_Silent_p.I87I|KIAA0319_uc011djr.1_Silent_p.I96I	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	96	MANSC.				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						GATAAGACCTGATGGGGCCCA	0.602000														54			10		0	0	0.000978	0	0
CHP2	63928	broad.mit.edu	37	16	23767248	23767248	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:23767248G>A	uc002dmb.1	+	3	644	c.221_splice	c.e3+1	p.G74_splice		NM_022097	NP_071380	O43745	CHP2_HUMAN	Homo sapiens calcineurin B homologous protein 2 (CHP2), mRNA.	74	EF-hand 2.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		TTCCCCGATGGGTGAGGCTTG	0.582000														23			14		0	0	0.003163	0	0
INADL	10207	broad.mit.edu	37	1	62349956	62349956	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:62349956C>T	uc001dab.3	+	21	3121	c.3007C>T	c.(3007-3009)Cct>Tct	p.P1003S	INADL_uc009waf.1_Missense_Mutation_p.P1003S|INADL_uc001daa.2_Missense_Mutation_p.P1003S|INADL_uc001dad.3_Missense_Mutation_p.P700S|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1003					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CATTGACCTTCCTGTTGTGGC	0.463000														108			45		0	0	0.002852	0	0
ARAP1	116985	broad.mit.edu	37	11	72423317	72423318	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:72423317_72423318CC>TT	uc001osu.3	-	6	1134_1135	c.945_946GG>AA	c.(943-948)atggac>atAAac	p.315_316MD>IN	ARAP1_uc001osv.3_Missense_Mutation_p.315_316MD>IN|ARAP1_uc001osr.3_Missense_Mutation_p.75_76MD>IN|ARAP1_uc001oss.3_Missense_Mutation_p.70_71MD>IN|ARAP1_uc009yth.3_Missense_Mutation_p.70_71MD>IN|ARAP1_uc010rre.2_Missense_Mutation_p.70_71MD>IN	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	315					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GGCGGCCCGTCCATGGGGTGTG	0.663000														254			114		0	0	0.004672	0	0
NEDD4L	23327	broad.mit.edu	37	18	56056398	56056398	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:56056398C>T	uc002lgy.3	+	27	2912	c.2629C>T	c.(2629-2631)Cac>Tac	p.H877Y	NEDD4L_uc002lgz.3_Missense_Mutation_p.H813Y|NEDD4L_uc002lgx.3_Missense_Mutation_p.H857Y|NEDD4L_uc010xee.1_Missense_Mutation_p.H756Y|NEDD4L_uc002lhc.2_Missense_Mutation_p.H869Y|NEDD4L_uc002lhd.2_Missense_Mutation_p.H756Y|NEDD4L_uc002lhb.2_Missense_Mutation_p.H736Y|NEDD4L_uc002lhe.2_Missense_Mutation_p.H849Y|NEDD4L_uc002lhf.3_Missense_Mutation_p.H736Y|NEDD4L_uc002lhg.3_Missense_Mutation_p.H756Y|NEDD4L_uc002lhh.2_Missense_Mutation_p.H652Y	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	877	HECT.				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						CTGCCCAAACCACCCCGTCAT	0.552000														12			8		0	0	0.003080	0	0
PIWIL1	9271	broad.mit.edu	37	12	130833935	130833935	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:130833935C>T	uc001uik.3	+	7	1157	c.886C>T	c.(886-888)Caa>Taa	p.Q296*	PIWIL1_uc001uij.2_Nonsense_Mutation_p.Q296*	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	296	PAZ.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ACATAAATTTCAAGAACAAGT	0.343000														11			5		0	0	0.001984	0	0
MAMDC2	256691	broad.mit.edu	37	9	72833384	72833384	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:72833384G>A	uc004ahm.2	+	11	2400	c.1783G>A	c.(1783-1785)Ggc>Agc	p.G595S	MAMDC2_uc004ahn.2_Non-coding_Transcript|LOC100507299_uc004ahq.1_Non-coding_Transcript|LOC100507299_uc022bhz.1_Intron	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	595	MAM 4.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						AGGGGGCACTGGCCTGCTGAG	0.498000														56			20		0	0	0.003330	0	0
FBXO10	26267	broad.mit.edu	37	9	37515999	37515999	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:37515999G>A	uc004aac.3	-	9	2726	c.2646C>T	c.(2644-2646)atC>atT	p.I882I	FBXO10_uc004aab.3_Silent_p.I866I|FBXO10_uc004aad.3_Silent_p.I416I	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	866						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CCTGGAAGATGATGTTTTCCT	0.522000														46			41		0	0	0.006230	0	0
IL1F10	84639	broad.mit.edu	37	2	113832355	113832355	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:113832355C>T	uc002tiu.3	+	3	249	c.174C>T	c.(172-174)ttC>ttT	p.F58F	IL1F10_uc002tiv.3_Silent_p.F58F|IL1F10_uc002tiw.3_Silent_p.F50F	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA.	58						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						TCCCCATTTTCCTGGGGATCC	0.582000														49			19		0	0	0.010504	0	0
PRRG4	79056	broad.mit.edu	37	11	32874863	32874863	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:32874863G>A	uc001mtx.3	+	5	732	c.471G>A	c.(469-471)agG>agA	p.R157R		NM_024081	NP_076986	Q9BZD6	TMG4_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane) (PRRG4), mRNA.	157						Golgi apparatus|extracellular region|integral to membrane	calcium ion binding			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					TCTATGAAAGGGGGAGGCACA	0.458000														86			4		0	0	0.000602	0	0
SLC17A6	57084	broad.mit.edu	37	11	22384351	22384351	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:22384351C>T	uc001mqk.3	+	5	1141	c.728C>T	c.(727-729)tCt>tTt	p.S243F		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	243					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ACTGGCTGGTCTTCAGTGTTT	0.403000														53			21		0	0	0.004656	0	0
TREML4	285852	broad.mit.edu	37	6	41197835	41197835	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:41197835C>T	uc003oqc.3	+	3	585	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S	TREML4_uc003oqd.3_Non-coding_Transcript	NM_198153	NP_937796	Q6UXN2	TRML4_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 4 (TREML4), mRNA.	161						extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					CTCTGGCCATCCCTCCATCAA	0.537000														71			36		0	0	0.009718	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10525256	10525256	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:10525256C>T	uc002czw.3	+	1	938	c.779C>T	c.(778-780)tCa>tTa	p.S260L	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.S260L|ATF7IP2_uc002czv.3_Missense_Mutation_p.S260L|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						ACCAGTATTTCAAATTGTGAA	0.343000														38			12		0	0	0.003163	0	0
INPP5D	3635	broad.mit.edu	37	2	233925234	233925234	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:233925234G>A	uc010zmo.2	+	0	199	c.46G>A	c.(46-48)Gag>Aag	p.E16K	INPP5D_uc010zmp.2_Missense_Mutation_p.E16K	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	16	SH2.				T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CTCCAAGGCGGAGGAGCTGCT	0.677000														24			8		0	0	0.003080	0	0
MAGI2	9863	broad.mit.edu	37	7	77824342	77824342	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:77824342C>T	uc003ugx.3	-	11	2372	c.2118G>A	c.(2116-2118)acG>acA	p.T706T	MAGI2_uc003ugy.3_Silent_p.T706T|MAGI2_uc010ldx.1_Silent_p.T315T|MAGI2_uc010ldy.1_Silent_p.T315T	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	706						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CAGATAAACTCGTTTGAGGAC	0.507000														36			7		0	0	0.004482	0	0
DNAH9	1770	broad.mit.edu	37	17	11592949	11592949	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:11592949C>T	uc002gne.3	+	19	3878	c.3810C>T	c.(3808-3810)tcC>tcT	p.S1270S	DNAH9_uc010coo.3_Silent_p.S564S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1270	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	p.S1270*(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGATGGAATCCACTATGGCCT	0.488000														26			35		0	0	0.003755	0	0
EVL	51466	broad.mit.edu	37	14	100603959	100603959	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:100603959C>A	uc001ygu.3	+	9	1096	c.1009C>A	c.(1009-1011)Cct>Act	p.P337T	EVL_uc001ygt.3_Missense_Mutation_p.P335T|EVL_uc001ygv.2_Missense_Mutation_p.P341T	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Homo sapiens Enah/Vasp-like (EVL), mRNA.	335	EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	SH3 domain binding|actin binding|profilin binding	p.P337A(2)		cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GGTGGAGAAGCCTGTGTCCTC	0.612000														23			25		9.57634e-11	1.05551e-10	0.003330	1	0
PID1	55022	broad.mit.edu	37	2	229890656	229890656	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:229890656C>T	uc002vpr.4	-	2	483	c.445G>A	c.(445-447)Gac>Aac	p.D149N	PID1_uc002vps.4_Missense_Mutation_p.D147N|PID1_uc002vpt.4_Missense_Mutation_p.D116N|PID1_uc002vpu.4_Missense_Mutation_p.D67N	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	149	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CCTTTGTGGTCGAGATGATGG	0.587000														46			11		0	0	0.001855	0	0
ZAN	7455	broad.mit.edu	37	7	100348838	100348838	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100348838G>A	uc003uwj.3	+	12	1720	c.1555G>A	c.(1555-1557)Gcc>Acc	p.A519T	ZAN_uc003uwk.3_Missense_Mutation_p.A519T|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.	519	MAM 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.T518M(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AAGCAACACGGCCTCTGTGGT	0.522000														14			10		0	0	0.001368	0	0
SLC30A10	55532	broad.mit.edu	37	1	220091654	220091654	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:220091654C>T	uc001hlw.3	-	2	1112	c.901G>A	c.(901-903)Gag>Aag	p.E301K	RNU5F-1_uc021pjd.1_Intron|SLC30A10_uc001hlu.1_Non-coding_Transcript|SLC30A10_uc001hlv.3_Missense_Mutation_p.E56K|SLC30A10_uc001hlx.3_Missense_Mutation_p.E76K	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	Homo sapiens solute carrier family 30, member 10 (SLC30A10), mRNA.	301					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GCAGCGGTCTCCTTGATAAGC	0.468000														92			39		0	0	0.006999	0	0
OLFM3	118427	broad.mit.edu	37	1	102269929	102269929	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:102269929G>A	uc001duf.2	-	5	1373	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F	OLFM3_uc001dug.2_Silent_p.F414F|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Silent_p.F339F|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	434	Olfactomedin-like.					extracellular region		p.L433I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		ATTGGTTATGGAAGGGAATGT	0.458000														82			57		0	0	0.003610	0	0
FAT4	79633	broad.mit.edu	37	4	126412820	126412820	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:126412820A>G	uc003ifj.4	+	16	14843	c.14843A>G	c.(14842-14844)aAa>aGa	p.K4948R	FAT4_uc011cgp.2_Missense_Mutation_p.K3189R|FAT4_uc003ifi.1_Missense_Mutation_p.K2425R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4948					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GATGTTTTTAAAGATTTGGCA	0.473000														7			17		0	0	0.007413	0	0
OR4K1	79544	broad.mit.edu	37	14	20404640	20404640	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20404640C>T	uc001vwj.2	+	0	874	c.815C>T	c.(814-816)tCt>tTt	p.S272F		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L271H(1)|p.L271F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AAATTTCTTTCTGTGTTCTAC	0.418000														151			13		0	0	0.001855	0	0
GUCY2C	2984	broad.mit.edu	37	12	14781642	14781642	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:14781642C>T	uc001rcd.3	-	19	2324	c.2187G>A	c.(2185-2187)gaG>gaA	p.E729E		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	729	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CTGGATCTTCCTCCCAACAGT	0.343000														24			31		0	0	0.003755	0	0
SMTN	6525	broad.mit.edu	37	22	31487081	31487081	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:31487081C>T	uc003ajl.2	+	9	1313	c.1072C>T	c.(1072-1074)Ccc>Tcc	p.P358S	SMTN_uc003ajk.2_Missense_Mutation_p.P358S|SMTN_uc003ajm.2_Missense_Mutation_p.P358S|SMTN_uc011ale.2_Missense_Mutation_p.P412S|SMTN_uc011alf.2_Missense_Mutation_p.P414S|SMTN_uc003ajn.2_Missense_Mutation_p.P350S|SMTN_uc011alg.2_5'UTR|SMTN_uc003ajo.2_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.2_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	358					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						TGCCCTAAGTCCCCTGACCCC	0.662000														51			7		0	0	0.004482	0	0
GPSM1	26086	broad.mit.edu	37	9	139232392	139232392	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:139232392C>T	uc004chd.2	+	5	1012	c.792C>T	c.(790-792)cgC>cgT	p.R264R	GPSM1_uc004chc.3_Silent_p.R264R	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN	Homo sapiens G-protein signaling modulator 1 (GPSM1), transcript variant 1, mRNA.	264	Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|plasma membrane	GTPase activator activity|binding			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		TCCTGGGGCGCTTTGACGTGG	0.647000														29			11		0	0	0.000978	0	0
SLC39A5	283375	broad.mit.edu	37	12	56625139	56625139	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:56625139C>T	uc010sqj.2	+	3	338	c.81C>T	c.(79-81)ccC>ccT	p.P27P	SLC39A5_uc010sqi.2_Intron|SLC39A5_uc010sqk.2_Silent_p.P27P	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA.	27					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	p.P26S(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTCAGTCCCCAACCTGGGCC	0.632000														41			62		0	0	0.003610	0	0
HIST1H2BK	85236	broad.mit.edu	37	6	27114472	27114472	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:27114472C>T	uc003nix.2	-	0	166	c.106G>A	c.(106-108)Gag>Aag	p.E36K	Histone3_uc021yox.1_5'Flank|HIST1H2BK_uc021yoy.1_Missense_Mutation_p.E36K|HIST1H2AH_uc003niz.3_5'Flank|MIR3143_uc021yoz.1_5'Flank	NM_080593	NP_542160	O60814	H2B1K_HUMAN	Homo sapiens histone cluster 1, H2bk (HIST1H2BK), mRNA.	36					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GAGTAGCTCTCCTTGCGGCTG	0.587000														150			23		0	0	0.007291	0	0
ABCC3	8714	broad.mit.edu	37	17	48735493	48735493	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:48735493C>T	uc002isl.3	+	4	617	c.537C>T	c.(535-537)gcC>gcT	p.A179A	ABCC3_uc002isk.4_Silent_p.A179A	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	179					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TCCACTTTGCCCTGGTACTCT	0.572000														32			51		0	0	0.003610	0	0
TBC1D1	23216	broad.mit.edu	37	4	38051315	38051315	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:38051315T>G	uc003gtb.3	+	10	2064	c.1706T>G	c.(1705-1707)cTg>cGg	p.L569R	TBC1D1_uc011byd.2_Missense_Mutation_p.L569R|TBC1D1_uc010ifd.3_Missense_Mutation_p.L316R|TBC1D1_uc011byf.1_Missense_Mutation_p.L440R	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	569						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCGGAGGACCTGTCCAGTGAC	0.592000														32			20		0	0	0.010504	0	0
F13A1	2162	broad.mit.edu	37	6	6196109	6196109	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:6196109C>T	uc003mwv.3	-	9	1349	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	F13A1_uc011dib.2_Missense_Mutation_p.R346Q	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	409					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGGGCCACACCGATACATGCC	0.512000														35			12		0	0	0.002450	0	0
MANBA	4126	broad.mit.edu	37	4	103610769	103610769	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:103610769C>T	uc003hwg.3	-	6	1022	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	MANBA_uc011ces.2_Missense_Mutation_p.E251K	NM_005908	NP_005899	O00462	MANBA_HUMAN	Homo sapiens mannosidase, beta A, lysosomal (MANBA), mRNA.	308					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CCATCCAGTTCAAAAAGAACA	0.284000														25			31		0	0	0.004878	0	0
E2F6	1876	broad.mit.edu	37	2	11593743	11593743	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:11593743G>A	uc002rbh.3	-	2	637	c.345C>T	c.(343-345)ctC>ctT	p.L115L	E2F6_uc002rbg.3_Silent_p.L40L|E2F6_uc002rbi.3_Silent_p.L40L|E2F6_uc010yjl.2_Non-coding_Transcript|E2F6_uc002rbe.3_Silent_p.L40L|E2F6_uc002rbf.3_Silent_p.L83L|E2F6_uc002rbj.1_Non-coding_Transcript	NM_198256	NP_937987	O75461	E2F6_HUMAN	Homo sapiens E2F transcription factor 6 (E2F6), mRNA.	115					negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		TCTTTTCAACGAGGTCGATTC	0.423000														46			42		0	0	0.003610	0	0
BDNF	627	broad.mit.edu	37	11	27679880	27679880	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:27679880G>A	uc001mrv.3	-	1	590	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	BDNF-AS_uc009yip.3_Non-coding_Transcript|BDNF-AS_uc001mrn.3_Non-coding_Transcript|BDNF-AS_uc001mro.3_Non-coding_Transcript|BDNF-AS_uc001mrm.3_Non-coding_Transcript|BDNF-AS_uc009yiq.3_Non-coding_Transcript|BDNF-AS_uc001mrp.3_Non-coding_Transcript|BDNF-AS_uc009yij.3_Non-coding_Transcript|BDNF-AS_uc009yik.3_Non-coding_Transcript|BDNF-AS_uc009yil.3_Non-coding_Transcript|BDNF-AS_uc009yin.3_Non-coding_Transcript|BDNF-AS_uc009yio.3_Non-coding_Transcript|BDNF-AS_uc009yim.3_Non-coding_Transcript|BDNF-AS_uc009yir.3_Non-coding_Transcript|BDNF-AS_uc009yis.3_Intron|BDNF-AS_uc009yiu.3_Non-coding_Transcript|BDNF-AS_uc009yix.3_Non-coding_Transcript|BDNF-AS_uc009yiy.3_Non-coding_Transcript|BDNF-AS_uc001mrq.4_Non-coding_Transcript|BDNF-AS_uc009yiw.3_Non-coding_Transcript|BDNF-AS_uc009yiz.3_Non-coding_Transcript|BDNF-AS_uc001mrr.4_Non-coding_Transcript|BDNF-AS_uc009yit.3_Non-coding_Transcript|BDNF-AS_uc009yiv.3_Non-coding_Transcript|BDNF-AS_uc009yja.3_Non-coding_Transcript|BDNF-AS_uc009yjb.3_Non-coding_Transcript|BDNF_uc021qff.1_Missense_Mutation_p.R78W|BDNF_uc010rdu.2_Missense_Mutation_p.R78W|BDNF_uc001mrt.3_Missense_Mutation_p.R93W|BDNF_uc010rdw.2_Missense_Mutation_p.R78W|BDNF_uc009yjd.3_Missense_Mutation_p.R78W|BDNF_uc001mru.3_Missense_Mutation_p.R78W|BDNF_uc010rdx.2_Missense_Mutation_p.R78W|BDNF_uc009yjf.3_Missense_Mutation_p.R107W|BDNF_uc010rdy.2_Missense_Mutation_p.R78W|BDNF_uc009yjg.3_Missense_Mutation_p.R78W|BDNF_uc009yje.3_Missense_Mutation_p.R160W|BDNF_uc001mrw.4_Missense_Mutation_p.R78W|BDNF_uc001mry.4_Missense_Mutation_p.R78W|BDNF_uc001mrz.4_Missense_Mutation_p.R78W|BDNF_uc001mrx.3_Missense_Mutation_p.R78W|BDNF_uc001msa.3_Missense_Mutation_p.R86W	NM_170733	NP_733931	P23560	BDNF_HUMAN	Homo sapiens brain-derived neurotrophic factor (BDNF), transcript variant 5, mRNA.	78						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						TCATTGGGCCGAACTTTCTGG	0.502000														103			23		0	0	0.003330	0	0
KCTD8	386617	broad.mit.edu	37	4	44176933	44176933	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:44176933C>T	uc003gwu.3	-	1	1580	c.1296G>A	c.(1294-1296)gaG>gaA	p.E432E		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	432						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CACTTAGCTTCTCACAGACTT	0.413000										HNSCC(17;0.042)				57			72		0	0	0.003610	0	0
KALRN	8997	broad.mit.edu	37	3	124153247	124153247	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:124153247G>A	uc003ehg.3	+	16	3044	c.2917G>A	c.(2917-2919)Gat>Aat	p.D973N	KALRN_uc010hrv.1_Missense_Mutation_p.D964N|KALRN_uc003ehf.1_Missense_Mutation_p.D973N|KALRN_uc011bjy.1_Missense_Mutation_p.D964N|KALRN_uc003ehh.1_Missense_Mutation_p.D319N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	973					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CGGCCACTACGATGCCGATGC	0.582000														25			13		0	0	0.001855	0	0
TF	7018	broad.mit.edu	37	3	133475779	133475779	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:133475779C>T	uc003epu.2	+	11	2524	c.796C>T	c.(796-798)Cct>Tct	p.P266S	TF_uc011blt.2_Missense_Mutation_p.P139S|TF_uc003epw.2_Intron|TF_uc003epv.2_Missense_Mutation_p.P266S	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	266	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GGCCCAGGTCCCTTCTCATAC	0.587000														53			15		0	0	0.006122	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159604006	159604007	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:159604006_159604007GG>AA	uc003fcq.2	+	6	1298_1299	c.1117_1118GG>AA	c.(1117-1119)ggg>AAg	p.G373K	IQCJ-SCHIP1_uc003fcr.2_Missense_Mutation_p.G346K|IQCJ-SCHIP1_uc003fcs.2_Missense_Mutation_p.G297K|IQCJ-SCHIP1_uc003fct.2_Missense_Mutation_p.G284K|IQCJ-SCHIP1_uc021xgm.1_Missense_Mutation_p.G65K|IQCJ-SCHIP1_uc010hvz.1_Missense_Mutation_p.G257K|IQCJ-SCHIP1_uc003fcu.2_Missense_Mutation_p.G54K	NM_001197113	NP_001184042	Q9P0W5	SCHI1_HUMAN	Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA.	297						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						ACTGCAGAGTGGGATGAACTTG	0.446000														26			33		0	0	0.004672	0	0
SSTR5	6755	broad.mit.edu	37	16	1129933	1129933	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:1129933C>T	uc021taf.1	+	1	1136	c.1065C>T	c.(1063-1065)gcC>gcT	p.A355A	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.A355A	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	355					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	GCGCCGCAGCCAACGGGCTTA	0.716000														8			10		0	0	0.008291	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559744	44559744	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:44559744C>T	uc002lcr.1	-	0	2245	c.1892G>A	c.(1891-1893)gGa>gAa	p.G631E	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	631	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGGTTGTTTCCACGTGCAGA	0.522000														85			32		0	0	0.002096	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066524	18066524	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:18066524C>T	uc003stz.3	-	0	963	c.882G>A	c.(880-882)atG>atA	p.M294I		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	294					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CTGCAAGGATCATGGAGATGT	0.403000														170			52		0	0	0.003610	0	0
PRSS8	5652	broad.mit.edu	37	16	31143543	31143543	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:31143543C>T	uc002ebc.4	-	5	1151	c.819G>A	c.(817-819)ctG>ctA	p.L273L	PRSS8_uc010vfe.2_Silent_p.L219L	NM_002773	NP_002764	Q16651	PRSS8_HUMAN	Homo sapiens protease, serine, 8 (PRSS8), mRNA.	273	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						AGCTGGAGGCCAGAGTGTACA	0.627000														14			7		0	0	0.004482	0	0
UBQLN4	56893	broad.mit.edu	37	1	156011382	156011382	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:156011382G>A	uc001fna.3	-	9	1571	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F	UBQLN4_uc010pgx.2_Missense_Mutation_p.S496F	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	Homo sapiens ubiquilin 4 (UBQLN4), mRNA.	516						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	p.S516F(2)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GGCTGGTGAGGAAGTGGGGGC	0.607000														30			4		0	0	0.009096	0	0
HSD17B7	51478	broad.mit.edu	37	1	162767625	162767626	+	Silent	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:162767625_162767626CC>TT	uc001gci.3	+	3	461_462	c.366_367CC>TT	c.(364-369)ggcctg>ggTTtg	p.122_123GL>GL	HSD17B7_uc009wuv.3_Non-coding_Transcript	NM_016371	NP_057455	P56937	DHB7_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 (HSD17B7), mRNA.	122					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	CAGCTGAAGGCCTGCTGACCCA	0.411000														23			7		0	0	0.004672	0	0
FAM75A6	389730	broad.mit.edu	37	9	43625417	43625417	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:43625417T>C	uc011lrb.2	-	3	3299	c.3270A>G	c.(3268-3270)caA>caG	p.Q1090Q		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	1090						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						TGCATGAGCCTTGACAGTTTG	0.502000														157			79		0	0	0.003610	0	0
ABCB11	8647	broad.mit.edu	37	2	169792852	169792852	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:169792852C>T	uc002ueo.1	-	21	2828	c.2702G>A	c.(2701-2703)aGc>aAc	p.S901N	ABCB11_uc010zda.1_Missense_Mutation_p.S343N|ABCB11_uc010zdb.1_Missense_Mutation_p.S377N	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	901	ABC transmembrane type-1 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GATGACCAGGCTCAGCTTCCA	0.522000														28			15		0	0	0.002450	0	0
KCNT2	343450	broad.mit.edu	37	1	196397372	196397372	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196397372C>T	uc001gtd.1	-	9	907	c.847G>A	c.(847-849)Gag>Aag	p.E283K	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.E283K|KCNT2_uc001gtf.1_Missense_Mutation_p.E283K|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.E283K|KCNT2_uc009wyv.1_Missense_Mutation_p.E258K	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	283						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTTGTCTCTCCATCCACAAA	0.358000														49			22		0	0	0.004656	0	0
HARBI1	283254	broad.mit.edu	37	11	46637537	46637537	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:46637537G>A	uc001ncy.3	-	1	499	c.251C>T	c.(250-252)tCc>tTc	p.S84F	ATG13_uc009yld.3_5'Flank|ATG13_uc001nda.3_5'Flank|ATG13_uc001ndb.3_5'Flank|ATG13_uc001ncz.3_5'Flank|ATG13_uc001ndc.3_5'Flank|ATG13_uc010rgv.2_5'Flank	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	Homo sapiens harbinger transposase derived 1 (HARBI1), mRNA.	84						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						AGTCTGGAAGGAACCTGAGGT	0.522000														56			39		0	0	0.005524	0	0
ATRNL1	26033	broad.mit.edu	37	10	116919962	116919962	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:116919962C>T	uc001lcg.3	+	5	1377	c.991C>T	c.(991-993)Caa>Taa	p.Q331*	ATRNL1_uc001lce.3_Non-coding_Transcript|ATRNL1_uc001lcf.3_Nonsense_Mutation_p.Q331*	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	331						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CAGTTCTTTTCAAATGGTCCT	0.338000														45			20		0	0	0.008871	0	0
TBC1D3B	414059	broad.mit.edu	37	17	34499226	34499226	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:34499226C>T	uc002hky.2	-	6	635	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	DQ571391_uc002hla.1_5'Flank|DQ593188_uc021tvb.1_5'Flank|DQ586142_uc002hlc.3_5'Flank|DQ575686_uc021tvc.1_5'Flank|DQ580080_uc021tvd.1_5'Flank	NM_001001417	NP_001001417	A6NDS4	TBC3B_HUMAN	Homo sapiens TBC1 domain family, member 3B (TBC1D3B), mRNA.	162	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGTTCCGTATCGATCCCTGAA	0.567000														400			118		0	0	0.003610	0	0
PAWR	5074	broad.mit.edu	37	12	80014943	80014943	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:80014943C>T	uc001syx.3	-	2	847	c.561G>A	c.(559-561)cgG>cgA	p.R187R		NM_002583	NP_002574	Q96IZ0	PAWR_HUMAN	Homo sapiens PRKC, apoptosis, WT1, regulator (PAWR), mRNA.	187	Selective for apoptosis induction in cancer cells (SAC).				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity	p.R187W(1)		NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CTTCTCGTTTCCGCTCTTTCT	0.363000														94			19		0	0	0.008871	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394161	17394161	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:17394161C>T	uc010xpn.1	+	4	864	c.750C>T	c.(748-750)ccC>ccT	p.P250P	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Silent_p.P196P|ANKLE1_uc010eao.1_Silent_p.P218P|ANKLE1_uc002nfy.2_Silent_p.P185P|ANKLE1_uc002nfz.2_5'UTR			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	196						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						TCCCTGTTCCCCTTGAAACTG	0.592000														67			32		0	0	0.002836	0	0
NFX1	4799	broad.mit.edu	37	9	33352709	33352709	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:33352709T>C	uc003zsr.3	+	16	2877	c.2724T>C	c.(2722-2724)acT>acC	p.T908T	NFX1_uc003zsp.2_Silent_p.T907T|NFX1_uc010mjr.2_Silent_p.T908T|NFX1_uc003zsq.3_Silent_p.T907T	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	907					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		CATCTAGTACTTATCAAAGGT	0.378000														33			9		0	0	0.008291	0	0
DMWD	1762	broad.mit.edu	37	19	46289988	46289988	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:46289988G>A	uc002pdj.1	-	2	812	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L	DMWD_uc021uwc.1_5'UTR|DMWD_uc010eko.1_5'UTR	NM_004943	NP_004934	Q09019	DMWD_HUMAN	Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA.	256					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		TGCTTCAGCAGGCTGTACTGG	0.667000														51			23		0	0	0.003330	0	0
CPN1	1369	broad.mit.edu	37	10	101816837	101816837	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:101816837G>A	uc001kql.2	-	5	1204	c.944C>T	c.(943-945)cCc>cTc	p.P315L		NM_001308	NP_001299	P15169	CBPN_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.	315	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CTCTTCGGGGGGAAACTTGTC	0.468000														126			42		0	0	0.003610	0	0
CR1	1378	broad.mit.edu	37	1	207782822	207782822	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:207782822G>A	uc001hfy.3	+	28	4874	c.4734G>A	c.(4732-4734)tgG>tgA	p.W1578*	CR1_uc009xcl.1_Nonsense_Mutation_p.W1128*|CR1_uc001hfx.3_Nonsense_Mutation_p.W2028*|CR1_uc021pij.1_Nonsense_Mutation_p.W1578*	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1578	Sushi 24.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTGGTGTTTGGAGCAGCCCTC	0.458000														25			22		0	0	0.010504	0	0
OR1F1	4992	broad.mit.edu	37	16	3254555	3254555	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:3254555C>T	uc010uwu.2	+	0	309	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						AGATGTATTTCGTTTTCATGT	0.493000														110			34		0	0	0.006230	0	0
HR	55806	broad.mit.edu	37	8	21979167	21979167	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:21979167G>A	uc003xas.3	-	8	2827	c.2162C>T	c.(2161-2163)tCc>tTc	p.S721F	HR_uc003xat.3_Missense_Mutation_p.S721F	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	721							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GCCATTGCAGGAAGGTTGTGG	0.547000														59			39		0	0	0.002522	0	0
DDAH1	23576	broad.mit.edu	37	1	85824519	85824519	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:85824519C>T	uc001dlb.3	-	1	476	c.315G>A	c.(313-315)atG>atA	p.M105I	DDAH1_uc001dlc.3_Missense_Mutation_p.M2I|LOC646626_uc001dla.2_Intron|DDAH1_uc010osb.2_Missense_Mutation_p.M5I|DDAH1_uc009wco.3_Missense_Mutation_p.M2I	NM_012137	NP_001127917	O94760	DDAH1_HUMAN	Homo sapiens dimethylarginine dimethylaminohydrolase 1 (DDAH1), transcript variant 1, mRNA.	105					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	ATGCTTCTTTCATCATGTCAA	0.308000														58			19		0	0	0.001882	0	0
C15orf55	256646	broad.mit.edu	37	15	34646835	34646835	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:34646835G>A	uc010ucc.2	+	5	1646	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	C15orf55_uc010ucd.2_Missense_Mutation_p.E412K|C15orf55_uc001zif.3_Missense_Mutation_p.E394K	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	394						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		AAAACAAGAGGAAGAAGGGCA	0.517000			T	"""BRD3, BRD4"""	lethal midline carcinoma									72			14		0	0	0.002450	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125850269	125850269	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:125850269G>A	uc003eim.1	-	12	1771	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	ALDH1L1_uc010hse.1_Intron|ALDH1L1_uc011bki.1_Silent_p.I426I|ALDH1L1_uc003eio.3_Silent_p.I229I	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	527	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GGAAGGTCTGGATGGACATGC	0.617000														88			50		0	0	0.003610	0	0
OR51F1	256892	broad.mit.edu	37	11	4790565	4790565	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4790565G>A	uc010qyl.2	-	0	583	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	195						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTATTTGCCCGAATGTCTGAA	0.388000														34			23		0	0	0.003954	0	0
RNF152	220441	broad.mit.edu	37	18	59483292	59483292	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:59483292G>A	uc002lih.1	-	1	817	c.405C>T	c.(403-405)atC>atT	p.I135I	RNF152_uc021ula.1_Silent_p.I135I	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	135					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				GTTCAGCAGGGATGGTCACCA	0.692000														35			19		0	0	0.007413	0	0
ROR2	4920	broad.mit.edu	37	9	94486388	94486388	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:94486388G>A	uc004arj.2	-	8	2587	c.2388C>T	c.(2386-2388)ttC>ttT	p.F796F	ROR2_uc004ari.1_Intron	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	796	Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGGCTGTGGGAAGGGCGGGG	0.677000														52			21		0	0	0.003330	0	0
ZFP14	57677	broad.mit.edu	37	19	36832048	36832048	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:36832048G>A	uc010xtd.2	-	3	762	c.683C>T	c.(682-684)cCc>cTc	p.P228L	ZFP14_uc010eex.2_Missense_Mutation_p.P227L	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	Homo sapiens zinc finger protein 14 homolog (mouse) (ZFP14), mRNA.	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					ACATTCATAGGGTTTCTCACC	0.438000														35			13		0	0	0.001368	0	0
TCEA2	6919	broad.mit.edu	37	20	62698298	62698298	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:62698298C>T	uc021wgq.1	+	2	822	c.166C>T	c.(166-168)Ctt>Ttt	p.L56F	TCEA2_uc021wgo.1_Non-coding_Transcript|TCEA2_uc021wgp.1_Missense_Mutation_p.L29F|TCEA2_uc010gku.2_Missense_Mutation_p.L29F	NM_003195	NP_942016	Q15560	TCEA2_HUMAN	Homo sapiens transcription elongation factor A (SII), 2 (TCEA2), transcript variant 1, mRNA.	56	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGTCAACGCCCTTCGGAAGCA	0.622000														14			3		0	0	0.004672	0	0
GALNT13	114805	broad.mit.edu	37	2	155265588	155265588	+	Silent	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:155265588A>T	uc002tyt.4	+	8	1493	c.1389A>T	c.(1387-1389)ggA>ggT	p.G463G	GALNT13_uc002tyr.4_Silent_p.G463G|GALNT13_uc010foc.1_Silent_p.G282G|GALNT13_uc010fod.3_Silent_p.G216G	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	463	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GTATGGGAGGAAATCAGGTAA	0.358000														55			13		0	0	0.003163	0	0
GPNMB	10457	broad.mit.edu	37	7	23293046	23293046	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:23293046G>A	uc003swc.3	+	1	352	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	GPNMB_uc003swa.2_Missense_Mutation_p.R64Q|GPNMB_uc003swb.3_Missense_Mutation_p.R64Q|GPNMB_uc011jyy.2_Missense_Mutation_p.R64Q|GPNMB_uc011jyz.2_Intron	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	Homo sapiens glycoprotein (transmembrane) nmb (GPNMB), transcript variant 1, mRNA.	64					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GTGTGGAAGCGGGGAGACATG	0.418000														36			7		0	0	0.001984	0	0
ANK3	288	broad.mit.edu	37	10	61832650	61832650	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:61832650C>T	uc001jky.3	-	36	8327	c.7989G>A	c.(7987-7989)gaG>gaA	p.E2663E	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2663					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTGCCTTCTCCTCGGCCTTGG	0.547000														31			9		0	0	0.000978	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22896936	22896936	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:22896936G>A	uc001irl.4	-	2	507	c.259C>T	c.(259-261)Cat>Tat	p.H87Y		NM_005028	NP_005019	P48426	PI42A_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP4K2A), mRNA.	87	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						AACTTGAAATGGCTCGGCATG	0.463000														18			10		0	0	0.000978	0	0
CDRT1	374286	broad.mit.edu	37	17	15519090	15519090	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:15519090G>A	uc002gor.1	-	7	1806	c.1469C>T	c.(1468-1470)tCc>tTc	p.S490F	CDRT1_uc002gov.4_Missense_Mutation_p.S180F			O95170	CDRT1_HUMAN	Homo sapiens tripartite motif containing 16 (TRIM16), mRNA.	180										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TTTCTCAGGGGAAAAACACAC	0.473000														20			12		0	0	0.001368	0	0
NAP1L3	4675	broad.mit.edu	37	X	92927223	92927223	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:92927223G>A	uc004efq.3	-	0	1460	c.1081C>T	c.(1081-1083)Cat>Tat	p.H361Y	FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.	361					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GGTAGAAAATGAAATTCAAAG	0.403000														6			20		0	0	0.010504	0	0
HYDIN	54768	broad.mit.edu	37	16	70843784	70843784	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:70843784C>T	uc002ezr.3	-	84	14933	c.14782G>A	c.(14782-14784)Gaa>Aaa	p.E4928K	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.	4929								p.E4880K(1)|p.E4928K(1)		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)				ACAGGCTTTTCCGGAAGTGCT	0.478000														219			115		0	0	0.003610	0	0
TAF1C	9013	broad.mit.edu	37	16	84218584	84218584	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:84218584G>A	uc002fhn.3	-	1	253	c.11C>T	c.(10-12)cCc>cTc	p.P4L	TAF1C_uc010vnz.2_Intron|TAF1C_uc002fho.3_Intron|TAF1C_uc010voa.2_Intron|TAF1C_uc002fhm.3_Intron|TAF1C_uc010vnx.2_Missense_Mutation_p.P4L|TAF1C_uc010vny.2_Intron|TAF1C_uc010vob.2_Missense_Mutation_p.P4L	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	4					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	p.F3L(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GAGGGAGCTGGGGAAGTCCAT	0.597000														19			6		0	0	0.001984	0	0
TYRP1	7306	broad.mit.edu	37	9	12695730	12695730	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:12695730C>T	uc003zkv.4	+	2	779	c.601C>T	c.(601-603)Ctt>Ttt	p.L201F		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	201					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		AAAGACTTTCCTTGGGGTAGG	0.448000									Oculocutaneous Albinism					54			8		0	0	0.003080	0	0
SESN1	27244	broad.mit.edu	37	6	109319812	109319812	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:109319812G>A	uc003psu.3	-	4	1308	c.876C>T	c.(874-876)ttC>ttT	p.F292F	SESN1_uc021zdp.1_Silent_p.F167F|SESN1_uc003pst.4_Silent_p.F233F	NM_014454	NP_001186863	Q9Y6P5	SESN1_HUMAN	Homo sapiens sestrin 1 (SESN1), transcript variant 1, mRNA.	233					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		AAGGAGGTCTGAATGTGTGGC	0.428000														78			35		0	0	0.004289	0	0
GPT2	84706	broad.mit.edu	37	16	46956280	46956280	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:46956280C>T	uc002eel.3	+	8	1258	c.1164C>T	c.(1162-1164)gtC>gtT	p.V388V	GPT2_uc002eem.3_Silent_p.V288V|GPT2_uc002een.3_5'Flank	NM_133443	NP_001135938	Q8TD30	ALAT2_HUMAN	Homo sapiens glutamic pyruvate transaminase (alanine aminotransferase) 2 (GPT2), transcript variant 1, mRNA.	388					2-oxoglutarate metabolic process|L-alanine metabolic process|cellular amino acid biosynthetic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGGACATTGTCGTGAACCCCC	0.627000														42			16		0	0	0.003163	0	0
CRY2	1408	broad.mit.edu	37	11	45868990	45868990	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:45868990C>T	uc010rgn.2	+	0	34	c.12C>T	c.(10-12)gtC>gtT	p.V4V	CRY2_uc009ykw.3_Intron	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	Homo sapiens cryptochrome 2 (photolyase-like) (CRY2), transcript variant 1, mRNA.	0					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA photolyase activity|blue light photoreceptor activity|damaged DNA binding|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						TGGGCGGGGTCCACGTCGCCT	0.721000														31			16		0	0	0.004990	0	0
SMURF2	64750	broad.mit.edu	37	17	62557655	62557655	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:62557655G>A	uc002jep.1	-	11	1667	c.1279C>T	c.(1279-1281)Cgt>Tgt	p.R427C	SMURF2_uc002jeq.1_Missense_Mutation_p.R186C|SMURF2_uc002jer.1_Missense_Mutation_p.R186C	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 2 (SMURF2), mRNA.	427	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	SMAD binding|identical protein binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TCTTCTCCACGAAATTTTATC	0.363000														11			14		0	0	0.004007	0	0
ACAN	176	broad.mit.edu	37	15	89400802	89400802	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:89400802G>A	uc010upo.1	+	11	5360	c.4986G>A	c.(4984-4986)gtG>gtA	p.V1662V	ACAN_uc010upp.1_Silent_p.V1662V|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1662					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TTTCCCTAGTGGATTCTACAT	0.527000														92			10		0	0	0.006214	0	0
GRIN2A	2903	broad.mit.edu	37	16	9923464	9923464	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:9923464A>G	uc010uym.2	-	9	2133	c.1823T>C	c.(1822-1824)cTt>cCt	p.L608P	GRIN2A_uc002czo.4_Missense_Mutation_p.L608P|GRIN2A_uc010uyn.2_Missense_Mutation_p.L451P|GRIN2A_uc002czr.4_Missense_Mutation_p.L608P	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	608					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CAGGCCCCAAAGAAGCCATAT	0.448000														44			24		0	0	0.005443	0	0
NALCN	259232	broad.mit.edu	37	13	101742293	101742293	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:101742293G>A	uc001vox.1	-	28	3483	c.3294C>T	c.(3292-3294)ttC>ttT	p.F1098F		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1098						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCACATTGTCGAAATTAAAGT	0.463000														166			29		0	0	0.002096	0	0
NME9	347736	broad.mit.edu	37	3	138025309	138025309	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:138025309C>T	uc003esg.3	-	6	502	c.474G>A	c.(472-474)agG>agA	p.R158R	NME9_uc003esd.1_Non-coding_Transcript|NME9_uc010huf.1_Silent_p.R73R|NME9_uc003ese.1_Silent_p.R97R	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	Homo sapiens NME gene family member 9 (NME9), mRNA.	158	NDK.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell redox homeostasis	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AGGTACAGGTCCTCTCTGATG	0.453000														223			19		0	0	0.003330	0	0
IL10RA	3587	broad.mit.edu	37	11	117870289	117870289	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:117870289T>A	uc001prv.3	+	6	1747	c.1670T>A	c.(1669-1671)cTc>cAc	p.L557H	IL10RA_uc010rxl.2_Missense_Mutation_p.L537H|IL10RA_uc010rxm.2_Missense_Mutation_p.L537H|IL10RA_uc010rxn.2_Missense_Mutation_p.L408H|IL10RA_uc001prw.3_Missense_Mutation_p.L408H	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	557						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CCAGGTGGTCTCCTGGGCAGC	0.572000														19			31		0	0	0.002445	0	0
UPB1	51733	broad.mit.edu	37	22	24911324	24911324	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:24911324G>A	uc003aaf.3	+	5	2072	c.777G>A	c.(775-777)acG>acA	p.T259T	UPB1_uc003aae.3_Silent_p.T191T	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	Homo sapiens ureidopropionase, beta (UPB1), mRNA.	259	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CCTCGGCCACGATAGGAGCAC	0.612000														39			17		0	0	0.006122	0	0
PYGM	5837	broad.mit.edu	37	11	64525948	64525948	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:64525948C>T	uc001oax.4	-	2	1202	c.385G>A	c.(385-387)Gat>Aat	p.D129N	PYGM_uc001oay.4_Intron	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	129					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	AGCCCCGCATCCTCCTCAATT	0.657000														65			21		0	0	0.004656	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072779	17072779	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:17072779C>T	uc002zlp.1	-	0	922	c.662G>A	c.(661-663)gGg>gAg	p.G221E		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	221					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TATTGCTAACCCCGGGAGGAG	0.592000														77			20		0	0	0.002299	0	0
MYLK	4638	broad.mit.edu	37	3	123376184	123376184	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:123376184C>T	uc003ego.3	-	23	4359	c.4077G>A	c.(4075-4077)ggG>ggA	p.G1359G	MYLK_uc010hrr.3_5'UTR|MYLK_uc011bjv.2_Silent_p.G159G|MYLK_uc011bjw.2_Silent_p.G1359G|MYLK_uc003egp.3_Silent_p.G1290G|MYLK_uc003egq.3_Silent_p.G1359G|MYLK_uc003egr.3_Silent_p.G1290G|MYLK_uc003egs.3_Silent_p.G1183G	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1359	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGCACTGCCCCCATCATATG	0.567000														24			7		0	0	0.003080	0	0
SYNPO	11346	broad.mit.edu	37	5	150028986	150028986	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:150028986C>T	uc003lsn.3	+	2	2255	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F	SYNPO_uc021yfu.1_Silent_p.F627F|SYNPO_uc003lso.4_Silent_p.F383F|SYNPO_uc003lsp.3_Silent_p.F383F|SYNPO_uc021yfv.1_Silent_p.F383F	NM_001166208	NP_001159681	Q8N3V7	SYNPO_HUMAN	Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA.	627					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	p.P627P(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTTTACTTTCGTGGAGAAGC	0.612000														31			12		0	0	0.003163	0	0
SNTN	132203	broad.mit.edu	37	3	63638413	63638413	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:63638413G>A	uc003dlr.3	+	0	70	c.50G>A	c.(49-51)gGa>gAa	p.G17E		NM_001080537	NP_001074006	A6NMZ2	SNTAN_HUMAN	Homo sapiens sentan, cilia apical structure protein (SNTN), mRNA.	17						cilium	calcium ion binding			endometrium(2)|ovary(1)	3						CACTTGGAAGGAGATCCCAAT	0.478000														31			20		0	0	0.002299	0	0
VPS13B	157680	broad.mit.edu	37	8	100520086	100520086	+	Nonsense_Mutation	SNP	C	T	T	rs145741622		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:100520086C>T	uc003yiv.3	+	27	4357	c.4246C>T	c.(4246-4248)Cga>Tga	p.R1416*	VPS13B_uc003yiw.3_Intron|VPS13B_uc003yiu.1_3'UTR|VPS13B_uc003yix.1_Nonsense_Mutation_p.R886*	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1416					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTTGTTGGTTCGACCCATCAG	0.453000														55			22		0	0	0.005443	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767262	77767262	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:77767262G>A	uc003yau.2	+	9	8492	c.8105G>A	c.(8104-8106)gGa>gAa	p.G2702E	ZFHX4_uc003yaw.1_Missense_Mutation_p.G2657E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2657						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)			TGGAATGAAGGAAAGCAGGCA	0.488000										HNSCC(33;0.089)				25			10		0	0	0.006214	0	0
AKR1B15	441282	broad.mit.edu	37	7	134261723	134261723	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:134261723C>T	uc011kpr.2	+	9	1133	c.834C>T	c.(832-834)atC>atT	p.I278I		NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	Homo sapiens aldo-keto reductase family 1, member B15 (AKR1B15), mRNA.	278							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						AGGTTCTGATCCGTTTCCATA	0.478000														101			21		0	0	0.002780	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530066	140530067	+	Missense_Mutation	DNP	TG	CT	CT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140530066_140530067TG>CT	uc003lir.3	+	0	228_229	c.228_229TG>CT	c.(226-231)tttgat>ttCTat	p.D77Y		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	77	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTGCAGTTTGATCCACAGAC	0.530000														61			22		0	0	0.004672	0	0
COL1A2	1278	broad.mit.edu	37	7	94051242	94051242	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:94051242G>A	uc003ung.1	+	38	2852	c.2381G>A	c.(2380-2382)cGg>cAg	p.R794Q	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	794			Missing (in OI2A).		Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCTGCTGGACGGACTGGTCCC	0.458000										HNSCC(75;0.22)				49			11		0	0	0.001855	0	0
C17orf57	124989	broad.mit.edu	37	17	45473267	45473267	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:45473267G>A	uc002iln.3	+	16	2300	c.1869G>A	c.(1867-1869)tgG>tgA	p.W623*	C17orf57_uc002ilm.3_Nonsense_Mutation_p.W527*	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	623							calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						CTGACCTGTGGAATACTCTGT	0.358000														33			18		0	0	0.006122	0	0
RIMS4	140730	broad.mit.edu	37	20	43385568	43385568	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:43385568G>A	uc010ggu.3	-	4	632	c.565C>T	c.(565-567)Cct>Tct	p.P189S	RIMS4_uc002xms.3_Missense_Mutation_p.P188S	NM_001205317	NP_001192246	Q9H426	RIMS4_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 4 (RIMS4), transcript variant 1, mRNA.	188	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				GGACTCTCAGGAAACAGCAGC	0.552000														186			20		0	0	0.002780	0	0
ADCY4	196883	broad.mit.edu	37	14	24791356	24791356	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:24791356C>T	uc001wow.3	-	19	2921	c.2502G>A	c.(2500-2502)atG>atA	p.M834I	ADCY4_uc010toh.2_Missense_Mutation_p.M520I|ADCY4_uc001wox.3_Missense_Mutation_p.M834I|ADCY4_uc001woy.3_Missense_Mutation_p.M834I	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	834					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TCAGGTTCTCCATCGTCTCTG	0.622000														60			57		0	0	0.003610	0	0
ZNF551	90233	broad.mit.edu	37	19	58198211	58198211	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:58198211C>T	uc002qpw.4	+	2	743	c.520C>T	c.(520-522)Ccc>Tcc	p.P174S	ZNF551_uc002qpv.4_Missense_Mutation_p.P117S|ZNF551_uc002qpx.3_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 551 (ZNF551), mRNA.	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A173T(1)		endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTTCCCAGCCCCCACGGACCT	0.502000														56			11		0	0	0.000978	0	0
RFX7	64864	broad.mit.edu	37	15	56390286	56390286	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:56390286G>A	uc010bfn.3	-	7	1100	c.1100C>T	c.(1099-1101)cCc>cTc	p.P367L	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Missense_Mutation_p.P181L	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	270					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TACCGGAATGGGACTAGGGAC	0.398000														21			8		0	0	0.004482	0	0
NTRK1	4914	broad.mit.edu	37	1	156843534	156843534	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:156843534C>T	uc001fqh.1	+	7	1016	c.960C>T	c.(958-960)tcC>tcT	p.S320S	NTRK1_uc001fqf.1_Silent_p.S290S|NTRK1_uc009wsi.1_Silent_p.S25S|NTRK1_uc001fqi.1_Silent_p.S320S|NTRK1_uc009wsk.1_Silent_p.S320S	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	320	Ig-like C2-type 2.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TCAATGGCTCCGTGCTCAATG	0.632000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				13			7		0	0	0.001984	0	0
GJA8	2703	broad.mit.edu	37	1	147381356	147381356	+	Missense_Mutation	SNP	G	A	A	rs150041151		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:147381356G>A	uc021ovm.1	+	0	1274	c.1274G>A	c.(1273-1275)cGa>cAa	p.R425Q	GJA8_uc001epu.2_Missense_Mutation_p.R425Q	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	425					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.R425Q(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCCAGCAGCCGAGCCAGGTCA	0.502000														23			13		0	0	0.003163	0	0
CTNND2	1501	broad.mit.edu	37	5	11111000	11111000	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:11111000C>T	uc003jfa.1	-	13	2578	c.2433G>A	c.(2431-2433)aaG>aaA	p.K811K	CTNND2_uc010itt.2_Silent_p.K720K|CTNND2_uc011cmy.1_Silent_p.K474K|CTNND2_uc011cmz.1_Silent_p.K378K|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.K378K	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	811	Poly-Lys.				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						TCTTCTTCTTCTTGCCCCAGC	0.512000														154			53		0	0	0.003610	0	0
RAP1A	5906	broad.mit.edu	37	1	112240080	112240080	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:112240080C>T	uc001ebi.3	+	3	248	c.144C>T	c.(142-144)tgC>tgT	p.C48C	RAP1A_uc001ebk.3_Silent_p.C48C|RAP1A_uc001ebl.3_Silent_p.C48C	NM_002884	NP_002875	P62834	RAP1A_HUMAN	Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA.	48					activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		AAGTCGATTGCCAACAGTGTA	0.373000														72			10		0	0	0.000978	0	0
GRIA1	2890	broad.mit.edu	37	5	153149834	153149834	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:153149834C>T	uc011dcy.2	+	12	2186	c.2159C>T	c.(2158-2160)tCc>tTc	p.S720F	GRIA1_uc003lva.4_Missense_Mutation_p.S710F|GRIA1_uc003luy.4_Missense_Mutation_p.S710F|GRIA1_uc003luz.4_Missense_Mutation_p.S615F|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.S630F|GRIA1_uc011dcx.2_Missense_Mutation_p.S641F|GRIA1_uc011dcz.2_Missense_Mutation_p.S720F	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	710					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTGAGGAAATCCAAAGGCAAA	0.478000														24			4		0	0	0.009096	0	0
POPDC3	64208	broad.mit.edu	37	6	105606500	105606500	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:105606500C>T	uc003prb.3	-	3	1123	c.721G>A	c.(721-723)Gat>Aat	p.D241N	BVES-AS1_uc003pqz.3_Intron|POPDC3_uc003pra.3_Non-coding_Transcript	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	Homo sapiens popeye domain containing 3 (POPDC3), transcript variant 1, mRNA.	241						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				TAGAGTTTATCTGCAATGTCA	0.393000														89			43		0	0	0.003214	0	0
ADAM18	8749	broad.mit.edu	37	8	39506003	39506003	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:39506003G>A	uc003xni.3	+	11	1242	c.1187G>A	c.(1186-1188)gGg>gAg	p.G396E	ADAM18_uc010lww.3_Intron|ADAM18_uc010lwx.3_Missense_Mutation_p.G372E	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	396	Disintegrin.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TGTGGTAATGGGATTTTGGAA	0.318000														21			7		0	0	0.003080	0	0
DNAH10	196385	broad.mit.edu	37	12	124387580	124387580	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:124387580C>T	uc001uft.4	+	55	9406	c.9381C>T	c.(9379-9381)acC>acT	p.T3127T		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3127	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCGAGACGACCCTGGCAGAGG	0.567000														6			9		0	0	0.004482	0	0
PRLR	5618	broad.mit.edu	37	5	35066041	35066041	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:35066041G>A	uc003jjm.3	-	9	1578	c.1019C>T	c.(1018-1020)cCc>cTc	p.P340L	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.P239L|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	340					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CAGGTATGTGGGTTTCATACC	0.493000														45			5		0	0	0.001984	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6908965	6908965	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:6908965T>C	uc002kne.3	+	15	1819	c.1560T>C	c.(1558-1560)ggT>ggC	p.G520G	ARHGAP28_uc010wzi.2_Silent_p.G502G	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	502					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TCAGTCATGGTTCATCAGAAT	0.284000														38			9		0	0	0.006214	0	0
CSMD3	114788	broad.mit.edu	37	8	113516034	113516034	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:113516034G>A	uc003ynu.3	-	29	5227	c.5068C>T	c.(5068-5070)Cat>Tat	p.H1690Y	CSMD3_uc003yns.3_Missense_Mutation_p.H962Y|CSMD3_uc003ynt.3_Missense_Mutation_p.H1650Y|CSMD3_uc011lhx.2_Missense_Mutation_p.H1586Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1690	CUB 9.					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						TATTCTAGATGAAATCCAGTG	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				48			11		0	0	0.000978	0	0
SLC39A10	57181	broad.mit.edu	37	2	196581636	196581636	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:196581636G>A	uc002utg.4	+	6	2186	c.1972G>A	c.(1972-1974)Gga>Aga	p.G658R	SLC39A10_uc002uth.4_Missense_Mutation_p.G658R|SLC39A10_uc010zgp.2_Missense_Mutation_p.G208R	NM_001127257	NP_065075	Q9ULF5	S39AA_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA.	658					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			CTGTCATTCTGGATCCGATCT	0.488000														31			26		0	0	0.006320	0	0
NCOA5	57727	broad.mit.edu	37	20	44690967	44690967	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:44690967G>A	uc002xrd.3	-	6	2240	c.1712C>T	c.(1711-1713)cCc>cTc	p.P571L	NCOA5_uc002xrc.3_3'UTR|NCOA5_uc002xre.3_Missense_Mutation_p.P571L	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	571	Transcription activation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AGATCCCATGGGGGCCTGTGG	0.552000														42			6		0	0	0.003080	0	0
ANK3	288	broad.mit.edu	37	10	61831637	61831637	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:61831637T>G	uc001jky.3	-	36	9340	c.9002A>C	c.(9001-9003)aAa>aCa	p.K3001T	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3001					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AACTGTCTCTTTACTCATGCT	0.363000														23			8		0	0	0.003080	0	0
NIPSNAP1	8508	broad.mit.edu	37	22	29965262	29965262	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:29965262G>A	uc003afx.4	-	3	542	c.287C>T	c.(286-288)cCc>cTc	p.P96L	NIPSNAP1_uc011akp.2_Missense_Mutation_p.P76L	NM_003634	NP_003625	Q9BPW8	NIPS1_HUMAN	Homo sapiens nipsnap homolog 1 (C. elegans) (NIPSNAP1), transcript variant 1, mRNA.	96								p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						GTGAAGCTTGGGCAGCACAGC	0.592000														23			5		0	0	0.001984	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092380	30092380	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:30092380C>T	uc010dmc.3	+	0		c.755C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		ACGTGGTGTTCCACATTTGCC	0.562000														33			8		0	0	0.003080	0	0
F3	2152	broad.mit.edu	37	1	94997929	94997929	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:94997929C>T	uc001dqr.3	-	4	920	c.699G>A	c.(697-699)aaG>aaA	p.K233K	F3_uc001dqp.2_Non-coding_Transcript|F3_uc001dqq.2_Intron|F3_uc001dqs.3_Intron	NM_001993	NP_001984	P13726	TF_HUMAN	Homo sapiens coagulation factor III (thromboplastin, tissue factor) (F3), transcript variant 1, mRNA.	233					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	TGTCTGTACTCTTCCGGTTAA	0.488000														67			34		0	0	0.003271	0	0
C5	727	broad.mit.edu	37	9	123768255	123768255	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:123768255C>T	uc004bkv.3	-	19	2534	c.2504G>A	c.(2503-2505)cGa>cAa	p.R835Q	C5_uc010mvm.1_Missense_Mutation_p.R835Q	NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	835					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CTGTTCTCCTCGTACAACAGA	0.388000														25			21		0	0	0.010504	0	0
SULT1C3	442038	broad.mit.edu	37	2	108881739	108881739	+	Missense_Mutation	SNP	G	A	A	rs142520746		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:108881739G>A	uc010ywo.2	+	6	847	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	283						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						GGCCCAAAATGAAGAATTTGA	0.468000														59			17		0	0	0.006122	0	0
TEX29	121793	broad.mit.edu	37	13	111980602	111980603	+	Nonsense_Mutation	DNP	GC	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:111980602_111980603GC>AA	uc001vsa.3	+	2	260_261	c.131_132GC>AA	c.(130-132)tgc>tAA	p.C44*		NM_152324	NP_689537	Q8N6K0	CM016_HUMAN	Homo sapiens chromosome 13 open reading frame 16 (C13orf16), mRNA.	44						integral to membrane											CTCGGGTGCTGCTTCTACGAAG	0.574000														29			25		0	0	0.004672	0	0
OTX2	5015	broad.mit.edu	37	14	57268471	57268471	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:57268471C>T	uc001xcq.3	-	4	1150	c.876G>A	c.(874-876)tgG>tgA	p.W292*	OTX2_uc001xcp.3_Nonsense_Mutation_p.W284*|OTX2_uc021rtm.1_Nonsense_Mutation_p.W114*|OTX2_uc010aou.3_Nonsense_Mutation_p.W284*	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	284					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CCTGGAATTTCCACGAGGATG	0.408000														51			5		0	0	0.001168	0	0
OR5V1	81696	broad.mit.edu	37	6	29323781	29323781	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:29323781C>T	uc011dlo.2	-	0	274	c.192G>A	c.(190-192)ggG>ggA	p.G64G		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGGCCAAGTTCCCTAGAAAAT	0.408000														104			53		0	0	0.003610	0	0
DMRT3	58524	broad.mit.edu	37	9	990650	990650	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:990650C>T	uc003zgw.1	+	1	1102	c.1064C>T	c.(1063-1065)gCt>gTt	p.A355V		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	355					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGTCCCTTGGCTGGGCCTCTG	0.582000														34			27		0	0	0.002836	0	0
UBR3	130507	broad.mit.edu	37	2	170917834	170917834	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:170917834C>T	uc010zdi.2	+	34	4900	c.4900C>T	c.(4900-4902)Cct>Tct	p.P1634S	UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_Missense_Mutation_p.P455S|UBR3_uc002uft.4_Missense_Mutation_p.P491S|UBR3_uc010zdj.2_Missense_Mutation_p.P325S|UBR3_uc002ufu.4_Missense_Mutation_p.P140S	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.	1634					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTAGGTTAACCCTATTGCTTG	0.338000														77			27		0	0	0.007291	0	0
SYNE2	23224	broad.mit.edu	37	14	64473769	64473769	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:64473769C>T	uc001xgl.3	+	30	4636	c.4406C>T	c.(4405-4407)tCa>tTa	p.S1469L	SYNE2_uc001xgm.3_Missense_Mutation_p.S1469L|SYNE2_uc021ruh.1_Missense_Mutation_p.S1469L	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	1469					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGGAAAAAATCATTAATCAGA	0.343000														91			13		0	0	0.003163	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86526867	86526867	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:86526867C>G	uc011kha.2	-	18	2825	c.2640G>C	c.(2638-2640)gaG>gaC	p.E880D	KIAA1324L_uc003uie.3_Missense_Mutation_p.E713D|KIAA1324L_uc011kgz.2_Missense_Mutation_p.E766D|KIAA1324L_uc003uif.2_Missense_Mutation_p.E632D	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	880						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GGAAGTCATGCTCCGTACACA	0.473000														35			6		0	0	0.001984	0	0
LINGO2	158038	broad.mit.edu	37	9	27949575	27949575	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:27949575C>T	uc003zqv.1	-	6	1745	c.1095G>A	c.(1093-1095)tgG>tgA	p.W365*	LINGO2_uc010mjf.1_Nonsense_Mutation_p.W365*|LINGO2_uc003zqu.1_Nonsense_Mutation_p.W365*|LINGO2_uc022bfc.1_Nonsense_Mutation_p.W365*	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	365	LRRCT.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCTGCAAGATCCAGAGAAGGC	0.542000														17			6		0	0	0.001168	0	0
NLRP14	338323	broad.mit.edu	37	11	7063913	7063913	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:7063913G>A	uc001mfb.1	+	3	979	c.656G>A	c.(655-657)aGa>aAa	p.R219K		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	219	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTCAATGGGAGAGAAATTAAC	0.443000														47			26		0	0	0.003330	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519312	113519312	+	Missense_Mutation	SNP	C	T	T	rs76910192	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:113519312C>T	uc010ljy.1	-	3	1866	c.1835G>A	c.(1834-1836)gGg>gAg	p.G612E		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	612					glycogen metabolic process	integral to membrane		p.G612R(1)|p.G612G(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACCAGTTATCCCTCCTAAAGC	0.393000														92			5		0	0	0.000602	0	0
PRLR	5618	broad.mit.edu	37	5	35066066	35066066	+	Nonsense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:35066066C>A	uc003jjm.3	-	9	1553	c.994G>T	c.(994-996)Gaa>Taa	p.E332*	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Nonsense_Mutation_p.E332*|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Nonsense_Mutation_p.E231*|PRLR_uc021xxl.1_Nonsense_Mutation_p.E332*	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	332					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CTTGGGTGTTCTTTTGAATGG	0.478000														35			16		1.96292e-10	2.16273e-10	0.010504	1	0
OR2C3	81472	broad.mit.edu	37	1	247695031	247695031	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:247695031G>A	uc021pmb.1	-	0	783	c.783C>T	c.(781-783)ctC>ctT	p.L261L	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.L261L	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	261					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)			TGGCTGGCTGGAGATACATGA	0.522000														53			26		0	0	0.003954	0	0
CSTF3	1479	broad.mit.edu	37	11	33163455	33163455	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:33163455C>T	uc001muh.3	-	1	271	c.105G>A	c.(103-105)tgG>tgA	p.W35*	CSTF3_uc001mui.3_Nonsense_Mutation_p.W35*|CSTF3_uc001muj.3_Nonsense_Mutation_p.W35*	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa (CSTF3), transcript variant 1, mRNA.	35					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TGAGAATGCTCCAAGCATCAA	0.403000														71			10		0	0	0.001855	0	0
PABPC3	5042	broad.mit.edu	37	13	25671071	25671071	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:25671071G>A	uc001upy.3	+	0	796	c.735G>A	c.(733-735)caG>caA	p.Q245Q		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	245	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAGATGCACAGAAAGCTGTAG	0.433000														47			5		0	0	0.000602	0	0
PCDH12	51294	broad.mit.edu	37	5	141336751	141336751	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:141336751G>A	uc003llx.3	-	0	1877	c.666C>T	c.(664-666)ccC>ccT	p.P222P		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	222	Cadherin 2.				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)			CTGACTTGGGGGGGTTCCCAT	0.478000														54			19		0	0	0.008871	0	0
OAS3	4940	broad.mit.edu	37	12	113388611	113388611	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:113388611C>T	uc001tug.3	+	6	1575	c.1488C>T	c.(1486-1488)atC>atT	p.I496I		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	496	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GCGCAGAGATCCTTGATGAGA	0.587000														41			49		0	0	0.003610	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743205	26743205	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:26743205G>A	uc001mra.2	-	0	370	c.57C>T	c.(55-57)ttC>ttT	p.F19F	SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.4_Silent_p.F19F	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	19					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CAGAGGAAATGAAAAAGAGGG	0.448000														53			24		0	0	0.005443	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406334	38406334	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:38406334C>T	uc003jlc.2	+	6	1165	c.819C>T	c.(817-819)tcC>tcT	p.S273S	EGFLAM_uc003jlb.2_Silent_p.S273S|EGFLAM_uc003jle.2_Silent_p.S39S|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	273						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGGATATTTCCTTTGAGGAGG	0.438000														33			7		0	0	0.003080	0	0
RNF8	9025	broad.mit.edu	37	6	37336500	37336500	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:37336500T>A	uc003onq.4	+	2	674	c.481T>A	c.(481-483)Tta>Ata	p.L161I	RNF8_uc003onr.4_Missense_Mutation_p.L161I|RNF8_uc011dtx.2_Missense_Mutation_p.L93I	NM_003958	NP_003949	O76064	RNF8_HUMAN	Homo sapiens ring finger protein 8 (RNF8), transcript variant 1, mRNA.	161					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						TTTGGATGAATTAGCAGGTCC	0.383000														30			19		0	0	0.007413	0	0
SPG11	80208	broad.mit.edu	37	15	44876629	44876629	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:44876629G>A	uc001ztx.3	-	29	5280	c.5249C>T	c.(5248-5250)tCc>tTc	p.S1750F	SPG11_uc010bdw.3_Missense_Mutation_p.S39F|SPG11_uc010ueh.2_Missense_Mutation_p.S1750F|SPG11_uc010uei.2_Missense_Mutation_p.S1750F|SPG11_uc001zty.1_Missense_Mutation_p.S479F	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	1750					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGAGAAAAAGGAAGAAGCTGC	0.463000														29			9		0	0	0.006214	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576745	158576745	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158576745G>A	uc010pio.2	+	0	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CAGCTCCCATGAAATCCAGCA	0.498000														93			15		0	0	0.003163	0	0
SEMA5A	9037	broad.mit.edu	37	5	9063102	9063102	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:9063102C>T	uc003jek.2	-	17	3127	c.2415G>A	c.(2413-2415)cgG>cgA	p.R805R		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	805	TSP type-1 5.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.R805Q(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCTTCCGGTTCCGAATGCCCC	0.592000														39			13		0	0	0.002450	0	0
OR11L1	391189	broad.mit.edu	37	1	248004859	248004859	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248004859G>A	uc001idn.1	-	0	340	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGGCCAGGAGAAAGCACTCG	0.597000														13			4		0	0	0.001168	0	0
TJP1	7082	broad.mit.edu	37	15	30034858	30034858	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:30034858G>A	uc001zcr.3	-	8	1613	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	TJP1_uc010azl.3_Missense_Mutation_p.P368S|TJP1_uc001zcq.3_Missense_Mutation_p.P384S|TJP1_uc001zcs.3_Missense_Mutation_p.P380S	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	380					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGAAGAGAAGGTGTTTGTTTC	0.368000														61			20		0	0	0.010504	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709249	128709249	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:128709249G>A	uc001qeo.1	-	1	998	c.947C>T	c.(946-948)cCa>cTa	p.P316L	KCNJ1_uc001qep.1_Missense_Mutation_p.P297L|KCNJ1_uc001qeq.1_Missense_Mutation_p.P297L|KCNJ1_uc001qer.1_Missense_Mutation_p.P297L|KCNJ1_uc001qes.1_Missense_Mutation_p.P297L|KCNJ1_uc021qsb.1_Missense_Mutation_p.P297L	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	316					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	CACCTCCTCTGGGACATAGGA	0.498000														11			11		0	0	0.008291	0	0
C1orf129	80133	broad.mit.edu	37	1	170952613	170952613	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:170952613C>T	uc010plz.2	+	8	821	c.667C>T	c.(667-669)Cct>Tct	p.P223S	C1orf129_uc001ghg.3_Missense_Mutation_p.P223S|C1orf129_uc009wvy.3_Missense_Mutation_p.P30S	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	223							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCTCCAGTTTCCTTCTTCTGA	0.373000														26			9		0	0	0.001368	0	0
XPOT	11260	broad.mit.edu	37	12	64819643	64819643	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:64819643C>T	uc001ssb.3	+	14	2127	c.1621C>T	c.(1621-1623)Cgg>Tgg	p.R541W		NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.	541	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	p.R541W(4)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TGCAAAAGTTCGGAGCAGGAC	0.363000														69			91		0	0	0.003610	0	0
POMT1	10585	broad.mit.edu	37	9	134385753	134385753	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:134385753C>T	uc004cav.3	+	8	1074	c.872C>T	c.(871-873)tCt>tTt	p.S291F	POMT1_uc011mci.1_3'UTR|POMT1_uc004cax.3_Missense_Mutation_p.S269F|POMT1_uc011mcj.2_Missense_Mutation_p.S47F|POMT1_uc004cau.3_Missense_Mutation_p.S269F|POMT1_uc004caw.3_Missense_Mutation_p.S215F|POMT1_uc011mck.2_Missense_Mutation_p.S152F|POMT1_uc011mcl.2_Missense_Mutation_p.S117F|POMT1_uc011mcm.2_Missense_Mutation_p.S239F	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	291					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GTCTTCCGCTCTGGGCCCCAC	0.542000														31			18		0	0	0.002299	0	0
TOX3	27324	broad.mit.edu	37	16	52502482	52502482	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:52502482C>T	uc002egw.2	-	1	263	c.92G>A	c.(91-93)gGa>gAa	p.G31E	TOX3_uc010vgt.1_Missense_Mutation_p.G27E	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA.	31					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						ATTATTATTTCCAAACTGAAA	0.363000														63			4		0	0	0.009096	0	0
KALRN	8997	broad.mit.edu	37	3	124181432	124181432	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:124181432A>T	uc003ehg.3	+	24	4104	c.3977A>T	c.(3976-3978)gAg>gTg	p.E1326V	KALRN_uc010hrv.1_Missense_Mutation_p.E1317V|KALRN_uc003ehf.1_Missense_Mutation_p.E1326V|KALRN_uc011bjy.1_Missense_Mutation_p.E1317V|KALRN_uc003ehh.1_Missense_Mutation_p.E672V	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1326	DH 1.		E -> D (in dbSNP:rs2289838).		apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTCAATAAAGAGCATATCATC	0.478000														23			10		0	0	0.000978	0	0
ATP6V1G2	534	broad.mit.edu	37	6	31513909	31513909	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:31513909C>T	uc003nua.3	-	1	449	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	DDX39B_uc003ntv.3_5'UTR|ATP6V1G2_uc003ntz.3_Missense_Mutation_p.E13K|ATP6V1G2_uc021yur.1_Intron|NFKBIL1_uc011dnr.2_5'Flank|NFKBIL1_uc011dns.2_5'Flank|NFKBIL1_uc011dnt.1_5'Flank|NFKBIL1_uc003nuc.3_5'Flank|NFKBIL1_uc003nub.3_5'Flank	NM_130463	NP_612139	O95670	VATG2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2 (ATP6V1G2), transcript variant 1, mRNA.	54					cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport	cytosol|melanosome|vacuolar proton-transporting V-type ATPase complex	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|protein binding			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						CTCTGGAATTCGTGCTCTCGC	0.582000														90			43		0	0	0.003610	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	22995467	22995467	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:22995467C>T	uc003xcz.1	-	8	1169	c.1077G>A	c.(1075-1077)aaG>aaA	p.K359K		NM_003840	NP_003831	Q9UBN6	TR10D_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain (TNFRSF10D), mRNA.	359	Death; truncated.				anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		GAATTGTTTCCTTTGCATGTC	0.493000														26			8		0	0	0.003080	0	0
DENND2C	163259	broad.mit.edu	37	1	115141952	115141952	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:115141952G>A	uc001efd.1	-	15	2928	c.2226C>T	c.(2224-2226)ttC>ttT	p.F742F	DENND2C_uc001eez.3_Intron|DENND2C_uc001efc.1_Silent_p.F685F	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	742	DENN.							p.R741*(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCCAATAAGGAATGGTGTAG	0.468000														71			38		0	0	0.009718	0	0
ADIPOR2	79602	broad.mit.edu	37	12	1893198	1893198	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:1893198C>T	uc001qjm.3	+	6	1188	c.991C>T	c.(991-993)Cgg>Tgg	p.R331W	ADIPOR2_uc001qjn.3_Missense_Mutation_p.R331W	NM_024551	NP_078827	Q86V24	ADR2_HUMAN	Homo sapiens adiponectin receptor 2 (ADIPOR2), mRNA.	331					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			GTATGCTGCCCGGATCCCCGA	0.547000														20			32		0	0	0.002836	0	0
DNAH10	196385	broad.mit.edu	37	12	124319972	124319972	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:124319972G>A	uc001uft.4	+	26	4470	c.4445G>A	c.(4444-4446)aGa>aAa	p.R1482K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1482	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R74I(1)|p.R1482I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTGGTTCAGAGAAAATGGATG	0.378000														2			7		0	0	0.004482	0	0
SEMA7A	8482	broad.mit.edu	37	15	74707193	74707193	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:74707193G>A	uc002axv.3	-	8	1121	c.1081C>T	c.(1081-1083)Ccg>Tcg	p.P361S	SEMA7A_uc010ulk.2_Missense_Mutation_p.P196S|SEMA7A_uc010ull.2_Missense_Mutation_p.P347S	NM_003612	NP_001139502	O75326	SEM7A_HUMAN	Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA.	361	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of axon extension|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	p.P361P(2)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CCAGGCCGCGGGTTGGGAAGG	0.622000														46			8		0	0	0.006214	0	0
ABCB5	340273	broad.mit.edu	37	7	20721209	20721209	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:20721209G>A	uc010kuh.3	+	14	2026	c.1789G>A	c.(1789-1791)Gat>Aat	p.D597N	ABCB5_uc003suw.4_Missense_Mutation_p.D152N	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	152	ABC transporter 2.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GACCCTAAAGGATGGAATGCT	0.423000														40			8		0	0	0.004482	0	0
DNAH1	25981	broad.mit.edu	37	3	52429461	52429461	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:52429461C>T	uc011bef.2	+	68	11367	c.11106C>T	c.(11104-11106)gcC>gcT	p.A3702A	DNAH1_uc003ddv.3_Silent_p.A560A	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3767					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGCTCTCTGCCATCTCCCTGG	0.622000														30			13		0	0	0.003163	0	0
FLNA	2316	broad.mit.edu	37	X	153594969	153594969	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:153594969G>A	uc004fkk.2	-	6	1275	c.1026C>T	c.(1024-1026)ttC>ttT	p.F342F	FLNA_uc010nuu.1_Silent_p.F342F	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	342					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCAGACGGAGAAGGTGCGGT	0.627000														18			22		0	0	0.003330	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431463	140431463	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140431463G>A	uc003lik.1	+	0	485	c.408G>A	c.(406-408)aaG>aaA	p.K136K		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	136					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTAAACAAGGAGCCGCTTT	0.532000														20			6		0	0	0.001168	0	0
OR2M1P	388762	broad.mit.edu	37	1	248285833	248285833	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248285833C>T	uc001idy.1	+	0	396	c.396C>T	c.(394-396)ttC>ttT	p.F132F						Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA.																		AGGTTATTTTCATTTGCTCTA	0.423000														111			43		0	0	0.006999	0	0
ITGA4	3676	broad.mit.edu	37	2	182390014	182390014	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:182390014C>T	uc002unu.3	+	20	3098	c.2335C>T	c.(2335-2337)Cat>Tat	p.H779Y	ITGA4_uc010frj.1_Missense_Mutation_p.H261Y|ITGA4_uc002unv.3_Missense_Mutation_p.H24Y	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	779					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GCTGACTGTTCATGGGTAAGT	0.323000														16			5		0	0	0.000602	0	0
VCPIP1	80124	broad.mit.edu	37	8	67547298	67547298	+	Missense_Mutation	SNP	G	A	A	rs142699780	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:67547298G>A	uc003xwn.3	-	2	3366	c.3107C>T	c.(3106-3108)tCt>tTt	p.S1036F		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA.	1036					protein ubiquitination	Golgi stack|endoplasmic reticulum	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TGGGTTACCAGATGCAGTTCC	0.403000														50			39		0	0	0.004878	0	0
FLG2	388698	broad.mit.edu	37	1	152323556	152323556	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152323556C>T	uc001ezw.4	-	2	6779	c.6706G>A	c.(6706-6708)Ggt>Agt	p.G2236S	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2236							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCATAACCATAGTGGGCA	0.537000														192			111		0	0	0.003610	0	0
CDX1	1044	broad.mit.edu	37	5	149563133	149563133	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:149563133G>A	uc003lrq.3	+	2	784	c.688G>A	c.(688-690)Gac>Aac	p.D230N		NM_001804	NP_001795	P47902	CDX1_HUMAN	Homo sapiens caudal type homeobox 1 (CDX1), mRNA.	230						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGGCCCACGACATCACGGC	0.617000														17			6		0	0	0.004482	0	0
GRM1	2911	broad.mit.edu	37	6	146755520	146755520	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:146755520C>T	uc010khw.1	+	8	3643	c.3173C>T	c.(3172-3174)cCc>cTc	p.P1058L	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	1058					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCGGTGGTCCCGGGAACGGG	0.667000														24			8		0	0	0.003080	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68244434	68244434	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:68244434C>T	uc001xka.2	-	24	4955	c.4816G>A	c.(4816-4818)Gac>Aac	p.D1606N	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.D1606N	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1606					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ATGGTGGGGTCAGGGATTCTT	0.498000														48			14		0	0	0.004007	0	0
RGPD3	653489	broad.mit.edu	37	2	107049619	107049619	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:107049619T>C	uc010ywi.1	-	15	2385	c.2328A>G	c.(2326-2328)atA>atG	p.I776M		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	776					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TAGAATGTTTTATTTCTGAAT	0.348000														114			32		0	0	0.003610	0	0
COL20A1	57642	broad.mit.edu	37	20	61959771	61959771	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:61959771C>T	uc011aau.2	+	33	3802	c.3702C>T	c.(3700-3702)ccC>ccT	p.P1234P	COL20A1_uc011aav.2_Silent_p.P1061P	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	1234					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCACTGAGCCCCTGGGGTCCC	0.657000														17			10		0	0	0.006214	0	0
COL6A3	1293	broad.mit.edu	37	2	238242165	238242165	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:238242165G>A	uc002vwl.2	-	41	9541	c.9256C>T	c.(9256-9258)Cca>Tca	p.P3086S	COL6A3_uc002vwo.2_Missense_Mutation_p.P2880S|COL6A3_uc010znj.1_Missense_Mutation_p.P2479S|COL6A3_uc002vwj.2_Missense_Mutation_p.P467S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	3086	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GACCTTGCTGGCTGTGGAGGT	0.428000														29			17		0	0	0.001882	0	0
C12orf36	283422	broad.mit.edu	37	12	13529258	13529258	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:13529258C>T	uc001rbs.2	-	1	334	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K						Homo sapiens chromosome 12 open reading frame 36 (C12orf36), non-coding RNA.											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		gaagtgtcttcatcaggaaca	0.473000														11			7		0	0	0.001984	0	0
PCDP1	200373	broad.mit.edu	37	2	120373202	120373202	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:120373202C>T	uc002tmb.3	+	14	1581	c.469C>T	c.(469-471)Cat>Tat	p.H157Y	PCDP1_uc010yyq.2_Missense_Mutation_p.H287Y	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	443						cilium	calmodulin binding					Colorectal(110;0.196)					CAAGGAATTTCATCCTACTTT	0.348000														10			5		0	0	0.000602	0	0
MYO7B	4648	broad.mit.edu	37	2	128331610	128331610	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:128331610C>T	uc002top.3	+	6	761	c.708C>T	c.(706-708)ctC>ctT	p.L236L		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	236	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGCAATTTCTCCTGGAGAAGT	0.597000														87			46		0	0	0.003610	0	0
OR2M7	391196	broad.mit.edu	37	1	248487463	248487463	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248487463C>T	uc010pzk.2	-	0	408	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M136T(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTTGGGTCTCATGAGATTGG	0.448000														161			43		0	0	0.003610	0	0
ATP1A3	478	broad.mit.edu	37	19	42479800	42479800	+	Silent	SNP	G	A	A	rs143307687		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:42479800G>A	uc002osh.3	-	15	2398	c.2244C>T	c.(2242-2244)atC>atT	p.I748I	ATP1A3_uc010xwf.2_Silent_p.I759I|ATP1A3_uc010xwg.2_Silent_p.I718I|ATP1A3_uc002osg.3_Silent_p.I748I|ATP1A3_uc010xwh.2_Silent_p.I761I			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	748					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						CCCCTGTGACGATGGAGGCAA	0.632000														43			14		0	0	0.002450	0	0
TEX11	56159	broad.mit.edu	37	X	69871302	69871302	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:69871302C>T	uc004dyl.3	-	17	1688	c.1526G>A	c.(1525-1527)aGa>aAa	p.R509K	TEX11_uc004dyk.3_Missense_Mutation_p.R184K|TEX11_uc004dym.3_Missense_Mutation_p.R494K	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	509							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					ATTTATACCTCTTTCAGAGTT	0.343000														7			7		0	0	0.003080	0	0
KCNK1	3775	broad.mit.edu	37	1	233807017	233807017	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:233807017G>A	uc010pxo.1	+	3	920	c.752_splice	c.e3-1	p.C251_splice		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	251						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TCTCACACAGGTTACCTGCTA	0.418000														79			40		0	0	0.003610	0	0
WBSCR28	135886	broad.mit.edu	37	7	73279939	73279939	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:73279939C>T	uc003tzk.2	+	2	570	c.534C>T	c.(532-534)ctC>ctT	p.L178L	WBSCR28_uc003tzl.2_Silent_p.L77L	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA.	178						integral to membrane		p.K177N(1)		breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				TAAGGAAGCTCCTGGTACAGC	0.582000														98			67		0	0	0.003610	0	0
F2RL1	2150	broad.mit.edu	37	5	76128626	76128626	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:76128626C>T	uc003keo.3	+	1	369	c.194C>T	c.(193-195)tCt>tTt	p.S65F		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	65					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		GATGAGTTTTCTGCATCTGTC	0.458000														249			75		0	0	0.003610	0	0
OR4C15	81309	broad.mit.edu	37	11	55322720	55322720	+	Missense_Mutation	SNP	G	A	A	rs149965163		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55322720G>A	uc010rig.2	+	0	938	c.938G>A	c.(937-939)cGa>cAa	p.R313Q		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GTATATACACGACCTCCATCT	0.403000										HNSCC(20;0.049)				96			63		0	0	0.003610	0	0
CLCN1	1180	broad.mit.edu	37	7	143028356	143028356	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:143028356C>T	uc003wcr.1	+	8	1098	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	CLCN1_uc011ktc.1_5'UTR	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	337					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GAACCAATTTCCGAATGGATT	0.522000														72			20		0	0	0.003954	0	0
OR8A1	390275	broad.mit.edu	37	11	124440379	124440379	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:124440379C>T	uc010san.2	+	0	415	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D138E(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GGCCTACGACCGCTATGTTGC	0.493000														37			5		0	0	0.000602	0	0
SLC1A2	6506	broad.mit.edu	37	11	35287113	35287113	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:35287113G>A	uc001mwd.3	-	9	2206	c.1614C>T	c.(1612-1614)gtC>gtT	p.V538V	SLC1A2_uc021qfx.1_Silent_p.V529V|SLC1A2_uc001mwe.3_Silent_p.V529V|SLC1A2_uc010rev.1_Silent_p.V538V	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	538					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	GTGCAGCATAGACACATTGAT	0.388000														87			39		0	0	0.007835	0	0
C9	735	broad.mit.edu	37	5	39289047	39289047	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:39289047G>A	uc003jlv.4	-	9	1512	c.1423C>T	c.(1423-1425)Cct>Tct	p.P475S		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	475	MACPF.				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)			TTATATATAGGAGACAGCTGA	0.303000														17			10		0	0	0.008291	0	0
STYK1	55359	broad.mit.edu	37	12	10783853	10783853	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:10783853C>T	uc001qys.2	-	4	763	c.242G>A	c.(241-243)gGa>gAa	p.G81E		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	81						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AGCCACATTTCCTCCATGTCC	0.557000										HNSCC(73;0.22)				27			39		0	0	0.006230	0	0
SCN10A	6336	broad.mit.edu	37	3	38739252	38739252	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38739252G>A	uc003ciq.3	-	26	5459	c.5459C>T	c.(5458-5460)tCt>tTt	p.S1820F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1820					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)	TGCCTTCAGAGAATCCAACTC	0.443000														36			36		0	0	0.004289	0	0
DEFB115	245929	broad.mit.edu	37	20	29845491	29845491	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:29845491C>T	uc002wvp.1	+	0	25	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F		NM_001037730	NP_001032819	Q30KQ5	DB115_HUMAN	Homo sapiens defensin, beta 115 (DEFB115), mRNA.	9					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			TTTCTCACCCCTCTCAGGAGA	0.502000														34			13		0	0	0.001855	0	0
FAM55D	54827	broad.mit.edu	37	11	114453029	114453029	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:114453029C>T	uc001ppc.3	-	2	992	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	FAM55D_uc001ppd.3_Intron	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	271						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		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;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		AGGCTCTTTTCTTGTTTGCTA	0.383000														33			11		0	0	0.000978	0	0
NOS1	4842	broad.mit.edu	37	12	117710301	117710301	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:117710301G>A	uc001twn.2	-	9	2439	c.1728C>T	c.(1726-1728)ctC>ctT	p.L576L	NOS1_uc021ren.1_Silent_p.L240L|NOS1_uc021reo.1_Silent_p.L240L|NOS1_uc001twm.2_Silent_p.L576L	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	576					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.L576L(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CAATCTCTAGGAGCATGTTGG	0.612000														16			21		0	0	0.002299	0	0
DECR2	26063	broad.mit.edu	37	16	461008	461008	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:461008C>T	uc002chb.3	+	6	699	c.593C>T	c.(592-594)cCc>cTc	p.P198L	DECR2_uc002chc.3_Missense_Mutation_p.P114L|DECR2_uc002chd.3_Missense_Mutation_p.P114L|DECR2_uc002che.1_Non-coding_Transcript	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 2, peroxisomal (DECR2), mRNA.	198						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				GAGTGGGGTCCCCAAAACATC	0.652000														7			3		0	0	0.009096	0	0
PTPRK	5796	broad.mit.edu	37	6	128294298	128294298	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:128294298C>T	uc003qbk.3	-	28	4502	c.4135G>A	c.(4135-4137)Ggt>Agt	p.G1379S	PTPRK_uc010kfc.3_Missense_Mutation_p.G1386S|PTPRK_uc003qbj.3_Missense_Mutation_p.G1380S|PTPRK_uc011ebu.2_Missense_Mutation_p.G1402S	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1379	Tyrosine-protein phosphatase 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CGCCCGCCACCATTTCTGAAA	0.423000														40			24		0	0	0.002852	0	0
DOCK3	1795	broad.mit.edu	37	3	51263190	51263190	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:51263190G>A	uc011bds.2	+	14	1386	c.1363G>A	c.(1363-1365)Gga>Aga	p.G455R		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	455	DHR-1.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTATGCAGATGGAGAAATCTT	0.428000														88			22		0	0	0.002299	0	0
SLC9A2	6549	broad.mit.edu	37	2	103236592	103236592	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:103236592G>C	uc002tca.3	+	0	427	c.285G>C	c.(283-285)aaG>aaC	p.K95N		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	95						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCCTGGCCAAGATTGGTGAGC	0.612000														13			12		0	0	0.000978	0	0
SCN1A	6323	broad.mit.edu	37	2	166929916	166929916	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:166929916C>T	uc002udo.4	-	2	443	c.216G>A	c.(214-216)atG>atA	p.M72I	SCN1A_uc010fpk.3_Missense_Mutation_p.M72I|SCN1A_uc021vsb.1_Missense_Mutation_p.M72I	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	72						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)	GCTCTGACACCATCTCTGGAG	0.428000														66			56		0	0	0.003610	0	0
NF1	4763	broad.mit.edu	37	17	29679366	29679366	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:29679366C>T	uc002hgg.3	+	50	7932	c.7549C>T	c.(7549-7551)Cga>Tga	p.R2517*	NF1_uc002hgh.3_Nonsense_Mutation_p.R2496*|NF1_uc010cso.3_Nonsense_Mutation_p.R705*|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2517					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)|p.R2517*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GACCAGTCCCCGAGCCAGGAA	0.468000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				14			15		0	0	0.003163	0	0
SYCE1	93426	broad.mit.edu	37	10	135367795	135367795	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:135367795C>T	uc009ybn.2	-	12	1061	c.956G>A	c.(955-957)tGa>tAa	p.*319*	CYP2E1_uc001lnl.1_Intron|SYCE1_uc001lnm.2_Silent_p.*191*|SYCE1_uc001lnn.2_Silent_p.*283*	NM_001143763	NP_570140	Q8N0S2	SYCE1_HUMAN	Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 3, mRNA.	0					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CCTCTCTCTTCAACTCCACCA	0.473000														45			16		0	0	0.008871	0	0
SYNGR4	23546	broad.mit.edu	37	19	48878949	48878949	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:48878949C>T	uc002piz.3	+	3	662	c.411C>T	c.(409-411)ctC>ctT	p.L137L		NM_012451	NP_036583	O95473	SNG4_HUMAN	Homo sapiens synaptogyrin 4 (SYNGR4), mRNA.	137	MARVEL.					integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		AAGAGTTCCTCCTGGGGAGCA	0.602000														55			25		0	0	0.007291	0	0
C6orf58	352999	broad.mit.edu	37	6	127898343	127898343	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:127898343C>T	uc003qbh.3	+	0	25	c.13C>T	c.(13-15)Cct>Tct	p.P5S		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA.	5						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		GGCTTTTCTTCCTTCCTGGGT	0.488000														42			6		0	0	0.001168	0	0
SIK1	150094	broad.mit.edu	37	21	44836679	44836679	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:44836679G>A	uc002zdf.2	-	13	2422	c.2295C>T	c.(2293-2295)gaC>gaT	p.D765D		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	765					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CCATCTCACAGTCCCCCTGCA	0.672000														5			9		0	0	0.004482	0	0
SORCS3	22986	broad.mit.edu	37	10	106907396	106907396	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:106907396G>A	uc001kyi.1	+	8	1551	c.1324G>A	c.(1324-1326)Gac>Aac	p.D442N		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	442						integral to membrane	neuropeptide receptor activity	p.D442D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CATCAGTACAGACGAGAACCA	0.468000														24			9		0	0	0.008291	0	0
ACMSD	130013	broad.mit.edu	37	2	135630121	135630121	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:135630121G>A	uc002ttz.3	+	7	826	c.759G>A	c.(757-759)atG>atA	p.M253I	ACMSD_uc002tua.3_Missense_Mutation_p.M195I|LOC100129961_uc010zbe.2_Intron	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.	253					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		ACAACCCCATGAACCCGAAGA	0.493000														30			14		0	0	0.003163	0	0
TNNT1	7138	broad.mit.edu	37	19	55649424	55649424	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55649424C>T	uc002qjb.4	-	9	495	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	TNNT1_uc002qjc.4_Missense_Mutation_p.E136K|TNNT1_uc002qje.4_Missense_Mutation_p.E125K|TNNT1_uc002qjd.4_Missense_Mutation_p.E125K|TNNT1_uc002qjf.2_Missense_Mutation_p.E132K	NM_003283	NP_003274	P13805	TNNT1_HUMAN	Homo sapiens troponin T type 1 (skeletal, slow) (TNNT1), transcript variant 1, mRNA.	136					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		TCTTCCTCTTCCTTCCTCATC	0.567000														50			14		0	0	0.004007	0	0
KCTD16	57528	broad.mit.edu	37	5	143586772	143586772	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:143586772C>T	uc003lnm.1	+	2	1124	c.495C>T	c.(493-495)ttC>ttT	p.F165F	KCTD16_uc003lnn.1_Silent_p.F165F	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	165						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			AGTGGGGTTTCATTACTGTGG	0.537000														25			9		0	0	0.008291	0	0
TJP2	9414	broad.mit.edu	37	9	71842716	71842716	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:71842716C>T	uc004ahe.3	+	7	1564	c.1246C>T	c.(1246-1248)Cca>Tca	p.P416S	TJP2_uc011lrs.2_Missense_Mutation_p.P393S|TJP2_uc011lrt.1_Missense_Mutation_p.P393S|TJP2_uc004ahd.3_Missense_Mutation_p.P416S|TJP2_uc004ahf.3_Missense_Mutation_p.P416S|TJP2_uc011lru.2_Missense_Mutation_p.P420S|TJP2_uc011lrv.2_Missense_Mutation_p.P447S	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA.	416					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						ATCATTTTCTCCAGAGGAGAG	0.318000														16			5		0	0	0.004482	0	0
F13B	2165	broad.mit.edu	37	1	197009650	197009650	+	Splice_Site	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:197009650A>C	uc001gtt.1	-	11	1996	c.1952_splice	c.e11+1	p.S651_splice		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	651					blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AAAACTTCTTACCTTTGTCTT	0.299000														24			14		0	0	0.001855	0	0
SNX9	51429	broad.mit.edu	37	6	158296089	158296089	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:158296089C>T	uc003qqv.1	+	3	354	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	61	SH3.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TCAGATTTTACCCAGTGATGG	0.443000														44			7		0	0	0.003080	0	0
PDZD8	118987	broad.mit.edu	37	10	119044546	119044546	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:119044546G>A	uc001lde.1	-	4	1897	c.1698C>T	c.(1696-1698)ccC>ccT	p.P566P		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	566	Pro-rich.				intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		AAGTTTTTAGGGGTGGAGGTT	0.453000														52			23		0	0	0.003954	0	0
PTPRT	11122	broad.mit.edu	37	20	40790089	40790089	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:40790089C>T	uc002xkg.3	-	16	2769	c.2585G>A	c.(2584-2586)cGg>cAg	p.R862Q	PTPRT_uc010ggj.3_Missense_Mutation_p.R881Q|PTPRT_uc010ggi.3_Missense_Mutation_p.R65Q	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	862					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GAACTGGTCCCGGGGGTAGCT	0.612000														47			20		0	0	0.007413	0	0
TNNT2	7139	broad.mit.edu	37	1	201332529	201332529	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:201332529C>T	uc001gwf.3	-	11	564	c.495G>A	c.(493-495)gaG>gaA	p.E165E	TNNT2_uc009wzn.3_5'Flank|TNNT2_uc009wzo.3_5'Flank|TNNT2_uc009wzp.3_5'Flank|TNNT2_uc021phc.1_Silent_p.E155E|TNNT2_uc001gwg.3_Silent_p.E155E|TNNT2_uc001gwh.3_Silent_p.E146E|TNNT2_uc001gwi.3_Silent_p.E125E|TNNT2_uc009wzr.3_Silent_p.E96E|TNNT2_uc001gwj.1_Non-coding_Transcript|TNNT2_uc009wzs.1_Silent_p.E130E|TNNT2_uc001gwk.1_Silent_p.E96E|TNNT2_uc009wzt.1_Silent_p.E155E	NM_000364	NP_000355	P45379	TNNT2_HUMAN	Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA.	165					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						GTCGAGCCCTCTCTTCCTGAT	0.507000														81			45		0	0	0.002852	0	0
RIT2	6014	broad.mit.edu	37	18	40695475	40695475	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:40695475C>T	uc002lav.3	-	0	183	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	RIT2_uc010dnf.3_Missense_Mutation_p.E4K	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	4					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding	p.E4K(2)		endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTTCATTTTCTACCTCCATC	0.517000														58			14		0	0	0.003163	0	0
NFATC4	4776	broad.mit.edu	37	14	24839278	24839278	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:24839278G>A	uc001wpc.3	+	1	995	c.674G>A	c.(673-675)tGg>tAg	p.W225*	NFATC4_uc010alr.3_Nonsense_Mutation_p.W288*|NFATC4_uc010tok.2_Nonsense_Mutation_p.W288*|NFATC4_uc010tol.2_Nonsense_Mutation_p.W288*|NFATC4_uc010als.2_Nonsense_Mutation_p.W238*|NFATC4_uc010too.2_Nonsense_Mutation_p.W238*|NFATC4_uc010tom.2_Nonsense_Mutation_p.W238*|NFATC4_uc010ton.2_Nonsense_Mutation_p.W238*|NFATC4_uc010toq.2_Nonsense_Mutation_p.W257*|NFATC4_uc010alt.3_Nonsense_Mutation_p.W257*|NFATC4_uc010top.2_Nonsense_Mutation_p.W257*|NFATC4_uc010alu.3_Intron|NFATC4_uc010tor.2_Nonsense_Mutation_p.W225*|NFATC4_uc010tos.2_Nonsense_Mutation_p.W155*|NFATC4_uc010tot.2_Nonsense_Mutation_p.W213*|NFATC4_uc010tou.2_Nonsense_Mutation_p.W155*|NFATC4_uc010tov.2_Nonsense_Mutation_p.W213*|NFATC4_uc010tow.2_Nonsense_Mutation_p.W155*|NFATC4_uc010alv.3_Nonsense_Mutation_p.W213*|NFATC4_uc010tox.2_Nonsense_Mutation_p.W155*|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	225	2 approximate SP repeats.|Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCTCGGCCATGGACCCCCGAA	0.692000														20			4		0	0	0.009096	0	0
SCUBE1	80274	broad.mit.edu	37	22	43735128	43735128	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:43735128C>T	uc003bdt.2	-	1	329	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	SCUBE1_uc003bdu.2_Missense_Mutation_p.E68K	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	68	EGF-like 1; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGCTTGCCTTCCCCCTTGTAG	0.612000														51			25		0	0	0.004656	0	0
MCOLN3	55283	broad.mit.edu	37	1	85484831	85484831	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:85484831G>A	uc001dkp.3	-	12	1784	c.1637C>T	c.(1636-1638)tCt>tTt	p.S546F	MCOLN3_uc001dko.3_Missense_Mutation_p.S165F|MCOLN3_uc001dkq.3_Missense_Mutation_p.S490F	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.	546						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		GCAGAATAAAGATACTGGAGG	0.373000														44			7		0	0	0.003080	0	0
CPNE5	57699	broad.mit.edu	37	6	36742771	36742771	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:36742771G>A	uc003omr.1	-	9	771	c.704C>T	c.(703-705)cCc>cTc	p.P235L	CPNE5_uc003oms.1_Missense_Mutation_p.P214L	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	235	C2 2.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGCTCTCACGGGAATGGAGAA	0.517000														25			7		0	0	0.003080	0	0
NT5DC2	64943	broad.mit.edu	37	3	52562323	52562323	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:52562323G>A	uc003den.3	-	5	687	c.647C>T	c.(646-648)cCc>cTc	p.P216L	NT5DC2_uc003dem.3_Missense_Mutation_p.P49L|NT5DC2_uc010hmi.3_Missense_Mutation_p.P191L|NT5DC2_uc010hmj.3_5'UTR|NT5DC2_uc003deo.3_Missense_Mutation_p.P179L	NM_001134231	NP_001127703	Q9H857	NT5D2_HUMAN	Homo sapiens 5'-nucleotidase domain containing 2 (NT5DC2), transcript variant 1, mRNA.	179							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CTTAATGGAGGGACCCTGGGG	0.582000														79			14		0	0	0.003163	0	0
PRKCB	5579	broad.mit.edu	37	16	24046808	24046808	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:24046808G>A	uc002dmd.3	+	4	666	c.469G>A	c.(469-471)Gag>Aag	p.E157K	PRKCB_uc002dme.3_Missense_Mutation_p.E157K	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	157					B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GGACCACACGGAGCGCCGCGG	0.617000														29			20		0	0	0.008871	0	0
SLC39A4	55630	broad.mit.edu	37	8	145641426	145641426	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:145641426C>T	uc003zcq.3	-	1	342	c.242G>A	c.(241-243)gGg>gAg	p.G81E	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.3_5'Flank|SLC39A4_uc003zco.3_5'Flank|SLC39A4_uc003zcp.3_Missense_Mutation_p.G56E	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA.	81						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CGGGGGCAGCCCTGACCCCTC	0.726000														9			6		0	0	0.003080	0	0
CEACAM20	125931	broad.mit.edu	37	19	45028262	45028262	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:45028262C>T	uc010ejn.1	-	2	245	c.229G>A	c.(229-231)Ggc>Agc	p.G77S	CEACAM20_uc010ejo.1_Missense_Mutation_p.G77S|CEACAM20_uc010ejp.1_Missense_Mutation_p.G77S|CEACAM20_uc010ejq.1_Missense_Mutation_p.G77S	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	77	Ig-like C2-type 1.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				ATGGCAGTGCCTGGGCTGACT	0.512000														258			121		0	0	0.003610	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49687790	49687790	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:49687790C>T	uc001jgu.3	-	3	637	c.340G>A	c.(340-342)Gag>Aag	p.E114K	ARHGAP22_uc001jgs.3_Missense_Mutation_p.E24K|ARHGAP22_uc001jgt.3_Missense_Mutation_p.E114K|ARHGAP22_uc010qgl.2_Intron|ARHGAP22_uc010qgm.2_Missense_Mutation_p.E120K|ARHGAP22_uc001jgv.3_5'UTR|BC043540_uc001jgw.3_5'Flank	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	114	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGCACCTTCTCCCGCTCCCCG	0.677000														8			6		0	0	0.001168	0	0
OR51B4	79339	broad.mit.edu	37	11	5322889	5322889	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5322889G>A	uc010qza.2	-	0	288	c.288C>T	c.(286-288)ttC>ttT	p.F96F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATTGGGTGAAACAGGCAG	0.507000														37			11		0	0	0.000978	0	0
IGDCC3	9543	broad.mit.edu	37	15	65625743	65625743	+	Silent	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:65625743A>G	uc002aos.2	-	5	1086	c.834T>C	c.(832-834)ccT>ccC	p.P278P		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	278	Ig-like C2-type 3.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCACCCCGATAGGGCGACCAT	0.567000														11			5		0	0	0.001168	0	0
OR5B12	390191	broad.mit.edu	37	11	58207496	58207496	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:58207496C>T	uc010rkh.2	-	0	151	c.129G>A	c.(127-129)atG>atA	p.M43I		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCAATTCAATCATCCCCAGGT	0.483000														32			12		0	0	0.001368	0	0
NOTCH4	4855	broad.mit.edu	37	6	32165227	32165227	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:32165227C>T	uc003obb.3	-	26	5040	c.4901G>A	c.(4900-4902)gGg>gAg	p.G1634E	GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_Missense_Mutation_p.G43E|NOTCH4_uc003oba.3_Missense_Mutation_p.G294E|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_Missense_Mutation_p.G43E	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1634					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGGGGTCTCCCCAGTGCCCAC	0.697000														326			81		0	0	0.003610	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914760	94914760	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:94914760C>T	uc001ydd.1	-	1	412	c.352G>A	c.(352-354)Ggc>Agc	p.G118S		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	118					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CTCCGGAAGCCCTGGTGGATG	0.587000														74			63		0	0	0.003610	0	0
LYG1	129530	broad.mit.edu	37	2	99907775	99907775	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:99907775G>A	uc010yvo.2	-	5	588	c.258C>T	c.(256-258)atC>atT	p.I86I	MRPL30_uc002szl.1_Intron|LYG1_uc002szy.3_Silent_p.I86I	NM_174898	NP_777558	Q8N1E2	LYG1_HUMAN	Homo sapiens lysozyme G-like 1 (LYG1), mRNA.	86					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						AGACACCAGCGATCACGGCAG	0.488000														25			21		0	0	0.002299	0	0
CLCN1	1180	broad.mit.edu	37	7	143016884	143016884	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:143016884G>A	uc003wcr.1	+	1	304	c.217G>A	c.(217-219)Gag>Aag	p.E73K	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_5'Flank|CLCN1_uc010lox.1_5'Flank|CLCN1_uc010loy.1_5'Flank	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	73					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTCAGACAGGGAGCAGGACAT	0.463000														60			12		0	0	0.000978	0	0
GBP1	2633	broad.mit.edu	37	1	89520430	89520430	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:89520430T>G	uc001dmx.2	-	9	1820	c.1600A>C	c.(1600-1602)Aag>Cag	p.K534Q		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	534					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TTCTCCATCTTCTCAGTCAGT	0.433000														254			155		0	0	0.003610	0	0
TFCP2L1	29842	broad.mit.edu	37	2	122007207	122007207	+	Silent	SNP	G	A	A	rs61734658		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:122007207G>A	uc002tmx.3	-	2	324	c.231C>T	c.(229-231)atC>atT	p.I77I	TFCP2L1_uc010flr.3_Silent_p.I77I	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	77					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CCAGTAGTCGGATTTCATAAG	0.458000														74			34		0	0	0.005524	0	0
UBC	7316	broad.mit.edu	37	12	125397978	125397978	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:125397978G>A	uc001ugs.4	-	1	798	c.340C>T	c.(340-342)Cct>Tct	p.P114S	UBC_uc001ugr.3_5'Flank|UBC_uc001ugt.3_Missense_Mutation_p.P114S|UBC_uc001ugu.1_Missense_Mutation_p.P114S|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Missense_Mutation_p.P114S|UBC_uc001ugw.3_5'UTR	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	114	Ubiquitin-like 2.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.G111fs*15(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGCTGGTCAGGAGGAATGCCT	0.542000														46			62		0	0	0.003610	0	0
ARID5A	10865	broad.mit.edu	37	2	97216893	97216893	+	Nonsense_Mutation	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:97216893G>T	uc002swe.3	+	6	728	c.628G>T	c.(628-630)Gag>Tag	p.E210*	ARID5A_uc010yuq.2_Nonsense_Mutation_p.E158*|ARID5A_uc002swf.3_Nonsense_Mutation_p.E46*|ARID5A_uc002swg.3_Nonsense_Mutation_p.E158*	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA.	210					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	p.Q209*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						TCCCAGCCAGGAGCCCCCCAG	0.602000														66			9		0.00621372	0.00677217	0.006214	1	0
C8A	731	broad.mit.edu	37	1	57373655	57373655	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:57373655G>A	uc001cyo.2	+	8	1381	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	417	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CATGGCTGTGGAAGACATTAT	0.517000														36			15		0	0	0.004007	0	0
HNF4A	3172	broad.mit.edu	37	20	43043289	43043290	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:43043289_43043290CC>TT	uc002xma.3	+	4	724_725	c.635_636CC>TT	c.(634-636)ccc>cTT	p.P212L	HNF4A_uc002xlt.3_Missense_Mutation_p.P190L|HNF4A_uc002xlu.3_Missense_Mutation_p.P190L|HNF4A_uc002xlv.3_Missense_Mutation_p.P190L|HNF4A_uc002xly.3_Missense_Mutation_p.P212L|HNF4A_uc010ggq.3_Missense_Mutation_p.P205L|HNF4A_uc002xlz.3_Missense_Mutation_p.P212L	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	212					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)			TGCGAGCTCCCCCTGGACGACC	0.619000														118			55		0	0	0.004672	0	0
PSD3	23362	broad.mit.edu	37	8	18725306	18725306	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:18725306G>A	uc003wza.3	-	3	1615	c.1512C>T	c.(1510-1512)atC>atT	p.I504I		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	504					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACACACTCAGGATATCCTGAT	0.502000														109			48		0	0	0.003610	0	0
NKX2-2	4821	broad.mit.edu	37	20	21494126	21494126	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:21494126A>G	uc002wsi.3	-	0	539	c.182T>C	c.(181-183)cTg>cCg	p.L61P		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	61					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGGGTTCTTCAGGGGCAGGCT	0.677000														21			10		0	0	0.006214	0	0
UBIAD1	29914	broad.mit.edu	37	1	11345804	11345804	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:11345804C>T	uc001asg.3	+	1	967	c.633C>T	c.(631-633)gcC>gcT	p.A211A		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	Homo sapiens UbiA prenyltransferase domain containing 1 (UBIAD1), mRNA.	211					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GGTCCCTGGCCATCTTCCCAC	0.592000														82			27		0	0	0.003271	0	0
EED	8726	broad.mit.edu	37	11	85963196	85963196	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:85963196C>T	uc001pbp.3	+	2	740	c.274C>T	c.(274-276)Cat>Tat	p.H92Y	EED_uc010rtm.2_Missense_Mutation_p.H92Y|EED_uc001pbq.3_Missense_Mutation_p.H92Y|EED_uc001pbr.3_Missense_Mutation_p.H92Y	NM_003797	NP_003788	O75530	EED_HUMAN	Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA.	92	Interaction with EZH2 (By similarity).				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				ATAGGAAGATCATAACCAACC	0.343000														24			6		0	0	0.001984	0	0
DYRK3	8444	broad.mit.edu	37	1	206821851	206821851	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:206821851C>T	uc001hej.3	+	2	1476	c.1308C>T	c.(1306-1308)tcC>tcT	p.S436S	DYRK3_uc001hek.3_Intron|DYRK3_uc001hei.3_Silent_p.S416S	NM_003582	NP_003573	O43781	DYRK3_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 (DYRK3), transcript variant 1, mRNA.	436	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TGGAGCAATCCAAACGTGCCA	0.537000														169			67		0	0	0.003610	0	0
NRP1	8829	broad.mit.edu	37	10	33502411	33502411	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:33502411C>T	uc001iwx.4	-	8	2040	c.1517G>A	c.(1516-1518)cGa>cAa	p.R506Q	NRP1_uc001iwv.4_Missense_Mutation_p.R506Q|NRP1_uc001iwy.4_Missense_Mutation_p.R506Q|NRP1_uc009xlz.3_Missense_Mutation_p.R506Q|NRP1_uc001iww.4_Missense_Mutation_p.R325Q|NRP1_uc001iwz.2_Missense_Mutation_p.R506Q|NRP1_uc001ixa.2_Missense_Mutation_p.R506Q|NRP1_uc001ixb.2_Missense_Mutation_p.R506Q|NRP1_uc001ixc.1_Missense_Mutation_p.R506Q	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	506	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CTTGTTCTCTCGGTGCTTCCC	0.527000														70			22		0	0	0.002299	0	0
MGAM	8972	broad.mit.edu	37	7	141755472	141755472	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:141755472G>A	uc003vwy.3	+	27	3483	c.3429G>A	c.(3427-3429)agG>agA	p.R1143R		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1143	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)	GGTCCTATAGGAGAGACTTGG	0.547000														62			15		0	0	0.002450	0	0
USP17L2	377630	broad.mit.edu	37	8	11995285	11995285	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:11995285T>A	uc003wvc.1	-	0	985	c.985A>T	c.(985-987)Agt>Tgt	p.S329C	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	329					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TCGTGACAACTCCACCCAGCG	0.488000														31			6		0	0	0.001984	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647846	51647846	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:51647846C>T	uc002pvv.1	+	1	686	c.617C>T	c.(616-618)cCa>cTa	p.P206L	SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	206	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ACCCTCATCCCACAGCCCCAG	0.652000														42			22		0	0	0.010504	0	0
KIF27	55582	broad.mit.edu	37	9	86504116	86504116	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:86504116C>T	uc004ana.3	-	6	2006	c.1862G>A	c.(1861-1863)cGa>cAa	p.R621Q	KIF27_uc010mpw.3_Missense_Mutation_p.R621Q|KIF27_uc010mpx.3_Missense_Mutation_p.R621Q	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	621					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ACTTCGTGTTCGAAATCCAGC	0.418000														84			48		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9069097	9069097	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9069097C>T	uc002mkp.3	-	2	18553	c.18349G>A	c.(18349-18351)Gat>Aat	p.D6117N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6119	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D6117Y(3)|p.D1750Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AATGTAGGATCATAGTAGGTG	0.493000														17			8		0	0	0.004482	0	0
REC8	9985	broad.mit.edu	37	14	24646965	24646965	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:24646965G>A	uc001wmr.3	+	12	1288	c.861_splice	c.e12+1	p.E287_splice	REC8_uc001wms.3_Splice_Site_p.E287_splice	NM_005132	NP_005123	O95072	REC8_HUMAN	Homo sapiens REC8 homolog (yeast) (REC8), transcript variant 1, mRNA.	288	Glu-rich.|Pro-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CAGCCCAGAGGTGAGTAGCCT	0.637000														13			5		0	0	0.000602	0	0
NGLY1	55768	broad.mit.edu	37	3	25775392	25775392	+	Nonsense_Mutation	SNP	G	A	A	rs146140738	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:25775392G>A	uc003cdl.3	-	7	1339	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*	NGLY1_uc010hfg.3_Nonsense_Mutation_p.R393*|NGLY1_uc003cdm.3_Nonsense_Mutation_p.R411*|NGLY1_uc011awo.2_Nonsense_Mutation_p.R369*|NGLY1_uc003cdk.3_Non-coding_Transcript	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	Homo sapiens N-glycanase 1 (NGLY1), transcript variant 1, mRNA.	411					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	p.R411*(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						ATAGTGTCTCGAAGTAATGCT	0.358000														42			18		0	0	0.010504	0	0
FANCA	2175	broad.mit.edu	37	16	89858885	89858885	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:89858885G>A	uc002fou.1	-	11	1119	c.1077C>T	c.(1075-1077)taC>taT	p.Y359Y	FANCA_uc010vpn.1_Silent_p.Y359Y	NM_000135	NP_000126	O15360	FANCA_HUMAN	Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA.	359					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TCACCCTGCGGTACAGTGAGG	0.547000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					41			11		0	0	0.008291	0	0
SPDYC	387778	broad.mit.edu	37	11	64939997	64939997	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:64939997G>A	uc010rnz.2	+	4	437	c.437G>A	c.(436-438)gGg>gAg	p.G146E		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	Homo sapiens speedy homolog C (Xenopus laevis) (SPDYC), mRNA.	146	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TTACGAGTGGGGAAATTCCTG	0.567000														61			17		0	0	0.004007	0	0
CCDC39	339829	broad.mit.edu	37	3	180377491	180377491	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:180377491C>T	uc010hxe.3	-	4	698	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	195					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTGTAAGTTCGTTGTCAAGT	0.308000														52			19		0	0	0.001882	0	0
COL14A1	7373	broad.mit.edu	37	8	121209076	121209076	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:121209076C>T	uc003yox.3	+	5	748	c.483C>T	c.(481-483)atC>atT	p.I161I	COL14A1_uc003yoy.3_5'UTR|COL14A1_uc010mde.1_5'UTR	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	161	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACATTGTAATCCTGGTCGATG	0.428000														67			29		0	0	0.009535	0	0
OR52L1	338751	broad.mit.edu	37	11	6007653	6007653	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:6007653C>T	uc001mcd.2	-	0	563	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTAGTAATCCCCTCACCAGC	0.498000														49			6		0	0	0.001984	0	0
HTR1D	3352	broad.mit.edu	37	1	23520171	23520171	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:23520171G>A	uc001bgn.3	-	0	1052	c.542C>T	c.(541-543)gCc>gTc	p.A181V		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	181					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CTCCTCCTGGGCCTTGGCCTG	0.602000														46			20		0	0	0.001882	0	0
PGM5P2	595135	broad.mit.edu	37	9	69127060	69127060	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:69127060C>T	uc004aff.4	-	1		c.507G>A								Homo sapiens phosphoglucomutase 5 pseudogene 2 (PGM5P2), non-coding RNA.																		CTGCCTTGATCTTCCTGATAA	0.438000														20			8		0	0	0.006214	0	0
OR2T4	127074	broad.mit.edu	37	1	248524930	248524930	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248524930C>T	uc001ieh.1	+	0	48	c.48C>T	c.(46-48)ttC>ttT	p.F16F		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F16I(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			GGTCGGATTTCATCCTGATGG	0.493000														40			19		0	0	0.010504	0	0
F2R	2149	broad.mit.edu	37	5	76028198	76028198	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:76028198G>A	uc003ken.4	+	1	413	c.148G>A	c.(148-150)Gat>Aat	p.D50N		NM_001992	NP_001983	P25116	PAR1_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor (F2R), mRNA.	50					STAT protein import into nucleus|activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|tyrosine phosphorylation of STAT protein	Golgi apparatus|caveola|extracellular region|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	GAACCCCAATGATAAATATGA	0.328000														43			6		0	0	0.001984	0	0
MUC17	140453	broad.mit.edu	37	7	100686975	100686975	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100686975C>A	uc003uxp.1	+	2	12331	c.12278C>A	c.(12277-12279)aCc>aAc	p.T4093N	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4093						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)					ACCACCATGACCACCAGGACA	0.562000														38			21		1.85244e-09	2.03755e-09	0.003330	1	0
C14orf133	63894	broad.mit.edu	37	14	77901727	77901727	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:77901727G>A	uc001xtt.2	-	14	1339	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	C14orf133_uc001xtu.2_Missense_Mutation_p.R308C|C14orf133_uc001xtv.2_Missense_Mutation_p.R308C|C14orf133_uc021rwu.1_Missense_Mutation_p.R308C|C14orf133_uc010tvj.2_Missense_Mutation_p.R259C	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	Homo sapiens chromosome 14 open reading frame 133 (C14orf133), transcript variant 2, mRNA.	308					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding							Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TCTAGATGGCGATCATTTGCC	0.448000														62			10		0	0	0.008291	0	0
abParts	0	broad.mit.edu	37	14	106452752	106452752	+	RNA	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:106452752G>A	uc021ser.1	-	2607		c.45208C>T								Parts of antibodies, mostly variable regions.																		ACGTGTCCCTGGTCATGGTGA	0.552000														123			36		0	0	0.003755	0	0
TAF1L	138474	broad.mit.edu	37	9	32630258	32630258	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:32630258C>T	uc003zrg.1	-	0	5410	c.5320G>A	c.(5320-5322)Gaa>Aaa	p.E1774K		NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1774					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.E1774*(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCAGCATCTTCCTCATCATCT	0.453000														67			22		0	0	0.002780	0	0
C11orf80	79703	broad.mit.edu	37	11	66571633	66571633	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:66571633A>G	uc021qmd.1	+	8	1017	c.1010A>G	c.(1009-1011)aAc>aGc	p.N337S	C11orf80_uc010rpk.2_Missense_Mutation_p.N172S	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	Homo sapiens chromosome 11 open reading frame 80 (C11orf80), mRNA.	182										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GTTTCTTCCAACCAGCTTAAC	0.438000														23			11		0	0	0.000978	0	0
NCF2	4688	broad.mit.edu	37	1	183546838	183546838	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:183546838C>T	uc001gqj.4	-	2	537	c.262G>A	c.(262-264)Gat>Aat	p.D88N	NCF2_uc010pod.2_Missense_Mutation_p.D88N|NCF2_uc010poe.2_Missense_Mutation_p.D88N|NCF2_uc001gqk.4_Missense_Mutation_p.D88N	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	88					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						ATAGCCAAATCATATCTGCAG	0.443000														64			34		0	0	0.003271	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195409	18195409	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:18195409C>T	uc001mnv.1	+	0	1026	c.606C>T	c.(604-606)atC>atT	p.I202I		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.	202						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGGTCAGGATCCTCTGTGGAT	0.547000														39			24		0	0	0.002780	0	0
KRT75	9119	broad.mit.edu	37	12	52827609	52827609	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:52827609G>A	uc001saj.2	-	0	502	c.480C>T	c.(478-480)ttC>ttT	p.F160F		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	160	Coil 1A.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGAAGGAGGCGAACTTATTGT	0.562000														51			44		0	0	0.003610	0	0
HOXA9	3205	broad.mit.edu	37	7	27204563	27204563	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:27204563C>T	uc003syt.3	-	0	587	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	HOXA9_uc022aar.1_Non-coding_Transcript	NM_152739	NP_689952	P31269	HXA9_HUMAN	Homo sapiens homeobox A9 (HOXA9), mRNA.	172							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						AAGGCGCCTTCGCTGGGTTGT	0.552000			T	"""NUP98, MSI2"""	AML*									44			25		0	0	0.005443	0	0
PWWP2A	114825	broad.mit.edu	37	5	159520276	159520276	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:159520276G>A	uc011ded.2	-	1	1438	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*	PWWP2A_uc003lxv.4_Nonsense_Mutation_p.R461*|PWWP2A_uc011dec.2_Nonsense_Mutation_p.R461*	NM_001130864	NP_001124336	Q96N64	PWP2A_HUMAN	Homo sapiens PWWP domain containing 2A (PWWP2A), transcript variant 2, mRNA.	461								p.R461Q(1)		kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTGATATCGACGTGTGAAA	0.418000														23			6		0	0	0.001984	0	0
C1orf127	148345	broad.mit.edu	37	1	11024217	11024217	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:11024217C>T	uc010oao.2	-	4	484	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	C1orf127_uc001ars.2_Missense_Mutation_p.E23K|C1orf127_uc001arr.2_Missense_Mutation_p.E23K	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	13								p.E13K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TGGACGCTTTCCTGGCCCAGC	0.562000														41			18		0	0	0.008871	0	0
SLC16A10	117247	broad.mit.edu	37	6	111498712	111498712	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:111498712G>A	uc003pus.3	+	2	961	c.786G>A	c.(784-786)gaG>gaA	p.E262E	SLC16A10_uc003pur.4_Silent_p.E262E|SLC16A10_uc003put.3_5'UTR	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	Homo sapiens solute carrier family 16, member 10 (aromatic amino acid transporter) (SLC16A10), mRNA.	262					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		AAGATAAAGAGAGTGGAGGTA	0.433000														34			4		0	0	0.009096	0	0
ENPP4	22875	broad.mit.edu	37	6	46111020	46111020	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:46111020C>T	uc003oxy.3	+	3	1264	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	335						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CAGTAGGTGACCATGGTTATG	0.358000														62			20		0	0	0.004656	0	0
FBXW10	10517	broad.mit.edu	37	17	18673314	18673314	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:18673314A>T	uc002gul.3	+	9	2241	c.2009A>T	c.(2008-2010)aAt>aTt	p.N670I	FBXW10_uc002guj.3_Missense_Mutation_p.N641I|FBXW10_uc002guk.3_Missense_Mutation_p.N641I|FBXW10_uc010cqh.2_Intron	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	641										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CGAATTTACAATTTCCTCAAC	0.527000														72			70		0	0	0.003610	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120920	38120921	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:38120920_38120921CC>TT	uc003atr.3	+	6	2628_2629	c.2357_2358CC>TT	c.(2356-2358)gcc>gTT	p.A786V	TRIOBP_uc003atu.3_Missense_Mutation_p.A614V|TRIOBP_uc003atq.1_Missense_Mutation_p.A786V|TRIOBP_uc003ats.1_Missense_Mutation_p.A614V	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	786					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCCAATAGAGCCACACGAGACA	0.545000														30			18		0	0	0.004672	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053777	95053777	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:95053777G>A	uc001ydm.2	+	2	288	c.78G>A	c.(76-78)gaG>gaA	p.E26E	SERPINA5_uc010ave.2_Silent_p.E26E|SERPINA5_uc001ydn.1_Silent_p.E26E	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	26					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	ACCCCCGGGAGATGAAGAAGA	0.597000														53			23		0	0	0.001882	0	0
OCIAD2	132299	broad.mit.edu	37	4	48896040	48896040	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:48896040G>A	uc003gyt.3	-	4	451	c.248C>T	c.(247-249)tCa>tTa	p.S83L	OCIAD2_uc003gyu.3_Missense_Mutation_p.S83L	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN	Homo sapiens OCIA domain containing 2 (OCIAD2), transcript variant 1, mRNA.	83	OCIA.					endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						TTTGGGCAATGATCCAAATCT	0.338000														17			11		0	0	0.003163	0	0
ATM	472	broad.mit.edu	37	11	108163385	108163385	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:108163385C>T	uc001pkb.1	+	29	4861	c.4476C>T	c.(4474-4476)tcC>tcT	p.S1492S	ATM_uc009yxr.1_Silent_p.S1492S|ATM_uc001pke.2_Silent_p.S144S|ATM_uc001pkf.3_Intron	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1492					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GTAGCTTCTCCCTTTGTTGTG	0.373000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				109			26		0	0	0.006320	0	0
FAM47A	158724	broad.mit.edu	37	X	34149783	34149783	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:34149783C>T	uc004ddg.3	-	0	665	c.613G>A	c.(613-615)Gag>Aag	p.E205K		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	205	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACTCCAGTCTCGGGAGGCTCT	0.627000														12			22		0	0	0.003330	0	0
OR2T11	127077	broad.mit.edu	37	1	248790397	248790397	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248790397G>A	uc001ier.1	-	0	33	c.33C>T	c.(31-33)ctC>ctT	p.L11L		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			GAAGCCCCAGGAGGGTGAAGT	0.522000														29			18		0	0	0.008871	0	0
GRID1	2894	broad.mit.edu	37	10	87487638	87487638	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:87487638C>T	uc001kdl.1	-	9	1608	c.1507G>A	c.(1507-1509)Ggg>Agg	p.G503R	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.G74R	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	503						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCGATCATCCCGTTCCAGGAG	0.537000										Multiple Myeloma(13;0.14)				43			14		0	0	0.001855	0	0
TBX15	6913	broad.mit.edu	37	1	119427478	119427478	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:119427478C>T	uc001ehl.1	-	7	1683	c.1368G>A	c.(1366-1368)atG>atA	p.M456I	TBX15_uc009whj.1_Missense_Mutation_p.M280I	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	562						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TGCTGTGCTCCATCCCTGACG	0.557000														57			12		0	0	0.001368	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558812	140558812	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140558812G>A	uc011dai.2	+	0	1442	c.1197G>A	c.(1195-1197)ggG>ggA	p.G399G	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	399	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCTGTGGGGAACTTTTACA	0.463000														26			12		0	0	0.000978	0	0
RARRES1	5918	broad.mit.edu	37	3	158422676	158422676	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:158422676C>T	uc003fci.3	-	3	647	c.576G>A	c.(574-576)tgG>tgA	p.W192*	RARRES1_uc003fcj.3_Nonsense_Mutation_p.W192*	NM_206963	NP_996846	P49788	TIG1_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 1 (RARRES1), transcript variant 1, mRNA.	192					negative regulation of cell proliferation	integral to membrane				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	AAGCCAAATCCCAGATGAGTC	0.418000														18			8		0	0	0.003080	0	0
NMUR2	56923	broad.mit.edu	37	5	151784302	151784302	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:151784302G>A	uc003luv.2	-	0	539	c.373C>T	c.(373-375)Ctc>Ttc	p.L125F		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	125					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GTCTCAAAGAGGGCCGTCTTG	0.607000														55			17		0	0	0.008871	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519169	113519169	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:113519169C>T	uc010ljy.1	-	3	2009	c.1978G>A	c.(1978-1980)Gaa>Aaa	p.E660K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	660					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCCTGACTTTCCAGAACATTC	0.368000														89			23		0	0	0.002299	0	0
HGF	3082	broad.mit.edu	37	7	81372745	81372745	+	Silent	SNP	G	A	A	rs147312555	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:81372745G>A	uc003uhl.3	-	6	954	c.789C>T	c.(787-789)ccC>ccT	p.P263P	HGF_uc003uhm.3_Silent_p.P258P|HGF_uc003uhn.1_Silent_p.P263P|HGF_uc003uho.1_Silent_p.P258P	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	263	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GCTGGCCATCGGGATTGCGGC	0.493000														36			9		0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179416365	179416365	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179416365G>A	uc021vsy.1	-	283	83783	c.83558C>T	c.(83557-83559)tCt>tTt	p.S27853F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S21548F|TTN_uc021vta.1_Missense_Mutation_p.S21481F|TTN_uc021vtb.1_Missense_Mutation_p.S21356F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28780	Ig-like 130.						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)			ACCTACTGGAGAAACAGCTAA	0.368000														22			6		0	0	0.001168	0	0
MYO18B	84700	broad.mit.edu	37	22	26423569	26423569	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:26423569C>T	uc003abz.1	+	42	7879	c.7629C>T	c.(7627-7629)ccC>ccT	p.P2543P	MYO18B_uc003aca.1_Silent_p.P2424P|MYO18B_uc010guy.1_Silent_p.P2425P|MYO18B_uc010guz.1_Silent_p.P2423P|MYO18B_uc011aka.1_Silent_p.P1697P|MYO18B_uc011akb.1_Silent_p.P2056P|MYO18B_uc010gva.1_Silent_p.P526P|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2543						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						GAACGTCCCCCGAGCGGAGAG	0.552000														18			11		0	0	0.001368	0	0
EPHA4	2043	broad.mit.edu	37	2	222365816	222365816	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:222365816G>A	uc002vmq.3	-	3	942	c.900C>T	c.(898-900)gtC>gtT	p.V300V	EPHA4_uc002vmr.2_Silent_p.V300V|EPHA4_uc010zlm.1_Silent_p.V241V	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	300	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.S299C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CTCCTTCCCAGACAGAGTAGC	0.522000														39			20		0	0	0.001882	0	0
MUC16	94025	broad.mit.edu	37	19	9090653	9090653	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9090653C>T	uc002mkp.3	-	0	1366	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	388	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						CCCAACCATTCTGAAGCCAAA	0.507000														28			15		0	0	0.003163	0	0
ROPN1L	83853	broad.mit.edu	37	5	10465004	10465004	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:10465004T>A	uc021xwo.1	+	5	821	c.638T>A	c.(637-639)tTt>tAt	p.F213Y	ROPN1L_uc003jex.4_Missense_Mutation_p.F213Y	NM_001201466	NP_001188395	Q96C74	ROP1L_HUMAN	Homo sapiens rhophilin associated tail protein 1-like (ROPN1L), transcript variant 2, mRNA.	213					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						GATTTCTTCTTTCCAAAGAGG	0.313000														40			22		0	0	0.007291	0	0
MGAM	8972	broad.mit.edu	37	7	141726950	141726950	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:141726950C>T	uc003vwy.3	+	8	1072	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	340	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)	CATCACTTACCGCACCATTGG	0.388000														97			38		0	0	0.009718	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502130	140502130	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140502130C>T	uc003lip.1	+	0	550	c.550C>T	c.(550-552)Cat>Tat	p.H184Y		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	184	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACTCGAAATCATAGTGAGGG	0.473000														15			10		0	0	0.008291	0	0
TRPC4	7223	broad.mit.edu	37	13	38237762	38237762	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:38237762G>A	uc010abx.3	-	5	1714	c.1479C>T	c.(1477-1479)atC>atT	p.I493I	TRPC4_uc010abv.3_Silent_p.I73I|TRPC4_uc001uwt.3_Silent_p.I493I|TRPC4_uc001uws.3_Silent_p.I493I|TRPC4_uc010tey.2_Silent_p.I493I|TRPC4_uc010abw.3_Silent_p.I320I|TRPC4_uc010aby.3_Silent_p.I493I	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	493					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TAAACAGTGAGATCAGACGCA	0.448000														9			18		0	0	0.006122	0	0
SMOC1	64093	broad.mit.edu	37	14	70461189	70461189	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:70461189G>A	uc001xlt.2	+	6	938	c.656G>A	c.(655-657)aGa>aAa	p.R219K	SMOC1_uc001xls.2_Missense_Mutation_p.R219K	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	219					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ACCAACATAAGAAATTCAGGT	0.413000														74			63		0	0	0.003610	0	0
VWC2L	402117	broad.mit.edu	37	2	215279299	215279299	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:215279299G>A	uc002vet.2	+	1	512	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	VWC2L_uc010zjl.1_Missense_Mutation_p.E128K	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	128	VWFC 2.					extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						AATCTTGGAGGAATTTAAGGT	0.353000														27			5		0	0	0.000602	0	0
ABCA4	24	broad.mit.edu	37	1	94564427	94564427	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:94564427A>T	uc001dqh.3	-	5	795	c.691T>A	c.(691-693)Tcc>Acc	p.S231T	ABCA4_uc010otn.1_Missense_Mutation_p.S231T	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	231					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGGGAGAGGGAGCACAGGGCA	0.602000														41			14		0	0	0.002450	0	0
AGXT2	64902	broad.mit.edu	37	5	35037047	35037047	+	Splice_Site	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:35037047C>A	uc003jjf.3	-	4	729	c.486_splice	c.e4+1	p.K162_splice	AGXT2_uc011com.2_Splice_Site_p.K162_splice|AGXT2_uc011con.2_Splice_Site_p.K70_splice	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	162					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	AGCATTGTACCTTAAGAGGCT	0.502000														52			8		1.58986e-06	1.7425e-06	0.008291	1	0
SLC45A1	50651	broad.mit.edu	37	1	8395530	8395530	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:8395530G>A	uc001apb.3	+	4	1477	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	SLC45A1_uc001apc.3_Missense_Mutation_p.E191K	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	493					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CGTGAAGTATGAGAGCGAGCT	0.647000														74			31		0	0	0.003271	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140752214	140752214	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140752214C>T	uc003ljw.2	+	0	2253	c.2253C>T	c.(2251-2253)tcC>tcT	p.S751S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.S751S|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	773					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V751V(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)			TGCCTTATTCCTACAATCCGT	0.478000														21			8		0	0	0.003080	0	0
TEX15	56154	broad.mit.edu	37	8	30706008	30706008	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:30706008C>T	uc003xil.3	-	0	526	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	176										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGAGCCTTCTCCTCACTGTGG	0.423000														41			7		0	0	0.003080	0	0
GTF2IRD2	84163	broad.mit.edu	37	7	74211373	74211373	+	Silent	SNP	G	A	A	rs146532025	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:74211373G>A	uc003ubd.1	-	15	2662	c.2478C>T	c.(2476-2478)atC>atT	p.I826I	GTF2IRD2_uc010lbt.1_Silent_p.I373I	NM_173537	NP_775808	Q86UP8	GTD2A_HUMAN	Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2), mRNA.	826					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						tgagttccgcgattttgggaa	0.478000														118			21		0	0	0.003330	0	0
FAM5C	339479	broad.mit.edu	37	1	190250722	190250722	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:190250722C>T	uc001gse.1	-	2	627	c.395G>A	c.(394-396)gGg>gAg	p.G132E	FAM5C_uc010pot.1_Intron	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	132						extracellular region		p.G132E(2)|p.G132G(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GAAATGTGTCCCATATTTCTT	0.453000														40			14		0	0	0.003163	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55350941	55350941	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55350941G>A	uc002qhm.1	+	3	475	c.429G>A	c.(427-429)gaG>gaA	p.E143E	KIR3DL2_uc010yfj.2_Silent_p.E136E|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Silent_p.E143E|KIR3DL2_uc002qhn.1_Intron	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	238	Ig-like C2-type 2.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		AGGCAGGAGAGAATGTGACCT	0.582000														137			54		0	0	0.003610	0	0
MFI2	4241	broad.mit.edu	37	3	196744020	196744020	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:196744020G>A	uc003fxk.4	-	6	968	c.854C>T	c.(853-855)gCc>gTc	p.A285V		NM_005929	NP_005920	P08582	TRFM_HUMAN	Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA.	285	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		ATCTGTGTCGGCCCGGACCAC	0.677000														23			9		0	0	0.000978	0	0
ABCC9	10060	broad.mit.edu	37	12	22005137	22005137	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:22005137C>T	uc001rfh.3	-	21	2683	c.2663G>A	c.(2662-2664)gGa>gAa	p.G888E	ABCC9_uc001rfi.1_Missense_Mutation_p.G888E	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	888	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAGGACACTTCCATCTTTCAT	0.368000														3			14		0	0	0.003163	0	0
OR4D6	219983	broad.mit.edu	37	11	59224646	59224646	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:59224646C>T	uc010rku.2	+	0	213	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I71I(2)|p.D70D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TCCTGGACATCGTTTTTTCAT	0.463000														50			34		0	0	0.002836	0	0
OR5B2	390190	broad.mit.edu	37	11	58190555	58190555	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:58190555G>A	uc010rkg.2	-	0	232	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGTTACTGAGGAAAAAGTACA	0.502000														36			22		0	0	0.002299	0	0
RGS9BP	388531	broad.mit.edu	37	19	33167782	33167782	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:33167782G>A	uc002ntp.1	+	0	1470	c.613G>A	c.(613-615)Ggt>Agt	p.G205S	ANKRD27_uc002ntn.1_5'Flank|ANKRD27_uc002nto.1_5'Flank	NM_207391	NP_997274	Q6ZS82	R9BP_HUMAN	Homo sapiens regulator of G protein signaling 9 binding protein (RGS9BP), mRNA.	205					negative regulation of signal transduction	integral to membrane		p.G204G(1)		central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					GCGCGGGGGGGGTTGCGACCC	0.741000														23			5		0	0	0.001168	0	0
KARS	3735	broad.mit.edu	37	16	75669881	75669881	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:75669881G>A	uc002feq.3	-	4	646	c.598C>T	c.(598-600)Ccg>Tcg	p.P200S	KARS_uc002fer.3_Missense_Mutation_p.P228S|KARS_uc010cgz.3_Missense_Mutation_p.P44S	NM_005548	NP_005539	Q15046	SYK_HUMAN	Homo sapiens lysyl-tRNA synthetase (KARS), transcript variant 2, mRNA.	200					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	ATCTCATACGGAATGATGCTC	0.448000														22			15		0	0	0.002450	0	0
GABRR3	200959	broad.mit.edu	37	3	97726707	97726707	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:97726707C>T	uc021xbo.1	-	6		c.772G>A			GABRR3_uc021xbp.1_Intron	NM_001105580		A8MPY1	GBRR3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 3 (GABRR3), mRNA.						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			large_intestine(2)|lung(1)	3						GACTTGTTTCCGTGTTTCCAG	0.373000														9			5		0	0	0.000602	0	0
CROCC	9696	broad.mit.edu	37	1	17277559	17277559	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:17277559C>T	uc001azt.2	+	19	3017	c.2948C>T	c.(2947-2949)tCt>tTt	p.S983F	CROCC_uc009voz.1_Intron|CROCC_uc001azu.2_Missense_Mutation_p.S286F	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	983					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCCCAGGCCTCTCTGCGGGAG	0.622000														16			10		0	0	0.008291	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101576466	101576466	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:101576466C>T	uc003knm.3	-	10	2119	c.1832G>A	c.(1831-1833)cGg>cAg	p.R611Q		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	611					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.R611L(2)		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)		GGCTAGGGACCGTTGTCTGTG	0.338000														104			24		0	0	0.007291	0	0
FAM75A3	727830	broad.mit.edu	37	9	40704191	40704191	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:40704191G>A	uc010mmj.3	+	3	1877	c.1848G>A	c.(1846-1848)agG>agA	p.R616R		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.	616						integral to membrane				kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACCTGGGAAGGATCCAAGAGT	0.532000														86			23		0	0	0.003330	0	0
GABRP	2568	broad.mit.edu	37	5	170222290	170222290	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:170222290C>T	uc003mau.3	+	4	517	c.319C>T	c.(319-321)Ctg>Ttg	p.L107L	GABRP_uc011dev.2_Silent_p.L107L	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	107						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAGCTTCACTCTGGATGCCCG	0.557000														86			26		0	0	0.004656	0	0
MRPL13	28998	broad.mit.edu	37	8	121426320	121426320	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:121426320A>G	uc003ypa.3	-	5	738	c.425T>C	c.(424-426)gTa>gCa	p.V142A	MRPL13_uc010mdf.3_Non-coding_Transcript	NM_014078	NP_054797	Q9BYD1	RM13_HUMAN	Homo sapiens mitochondrial ribosomal protein L13 (MRPL13), nuclear gene encoding mitochondrial protein, mRNA.	142					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AAGCTCCTCTACTAAATTCTT	0.303000														14			16		0	0	0.004007	0	0
HFE2	148738	broad.mit.edu	37	1	145416699	145416699	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:145416699G>A	uc001eni.2	+	3	1369	c.1044G>A	c.(1042-1044)aaG>aaA	p.K348K	HFE2_uc001enk.2_Silent_p.K235K|HFE2_uc001enj.2_Silent_p.K122K|HFE2_uc001enl.2_Silent_p.K122K|HFE2_uc021oux.1_Silent_p.K122K	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	348					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGCTGTGCAAGGAAGGGCTTC	0.527000														37			20		0	0	0.008871	0	0
DOK2	9046	broad.mit.edu	37	8	21766993	21766993	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:21766993G>A	uc003wzx.1	-	4	1161	c.1068C>T	c.(1066-1068)ctC>ctT	p.L356L	DOK2_uc003wzy.1_Silent_p.L356L|DOK2_uc003wzz.1_Silent_p.L202L|DOK2_uc010lth.1_Silent_p.L202L	NM_003974	NP_003965	O60496	DOK2_HUMAN	Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.	356	Pro-rich.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GGCTGTCATAGAGGGACAGGG	0.667000														37			8		0	0	0.003080	0	0
GAS2L2	246176	broad.mit.edu	37	17	34074268	34074268	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:34074268G>A	uc002hjv.2	-	4	880	c.852C>T	c.(850-852)ttC>ttT	p.F284F		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	284					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGGCTTCAGGAAGCTGCCTG	0.597000														73			106		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	15	22473158	22473158	+	RNA	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:22473158G>A	uc001yuj.2	-	6		c.170C>T								Parts of antibodies, mostly variable regions.																		GCAGGTGAGGGACAGGGTCTC	0.632000														44			8		0	0	0.003080	0	0
DLG5	9231	broad.mit.edu	37	10	79554636	79554636	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:79554636G>A	uc001jzk.3	-	29	5587	c.5517C>T	c.(5515-5517)ttC>ttT	p.F1839F	DLG5_uc001jzi.3_Silent_p.F594F|DLG5_uc001jzj.3_Silent_p.F1254F	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1839	Guanylate kinase-like.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGTAGTGGATGAAGATGACAA	0.607000														20			8		0	0	0.003080	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52115667	52115667	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:52115667C>T	uc002pxe.3	-	8	1612	c.1473G>A	c.(1471-1473)agG>agA	p.R491R		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	491					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		AGGGCTTCTTCCTGGAACCCT	0.483000														46			24		0	0	0.002299	0	0
CNGB1	1258	broad.mit.edu	37	16	57918121	57918121	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:57918121C>T	uc002emt.2	-	32	3768	c.3703G>A	c.(3703-3705)Gag>Aag	p.E1235K	CNGB1_uc010cdh.2_Missense_Mutation_p.E1229K	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	1235					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						AGGATCTGCTCTCCCGGCTCC	0.692000														61			28		0	0	0.005524	0	0
MOB3C	148932	broad.mit.edu	37	1	47080695	47080695	+	Silent	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:47080695A>G	uc001cqe.4	-	0	111	c.54T>C	c.(52-54)ctT>ctC	p.L18L	MKNK1_uc010omf.1_Intron|MOB3C_uc001cqf.4_Intron	NM_145279	NP_958805	Q70IA8	MOL2C_HUMAN	Homo sapiens MOB kinase activator 3C (MOB3C), transcript variant 1, mRNA.	0							metal ion binding										TCACCCAAAGAAGTCCCCAGG	0.463000														60			30		0	0	0.006999	0	0
GRIA3	2892	broad.mit.edu	37	X	122561843	122561843	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:122561843C>T	uc004etq.4	+	11	2221	c.1929C>T	c.(1927-1929)atC>atT	p.I643I	GRIA3_uc004etr.4_Silent_p.I643I|GRIA3_uc004ets.4_Non-coding_Transcript	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	643					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TCACCCTGATCATAATTTCTT	0.453000														27			49		0	0	0.003610	0	0
CLCA2	9635	broad.mit.edu	37	1	86921097	86921097	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:86921097T>C	uc001dlr.4	+	13	2881	c.2719T>C	c.(2719-2721)Tta>Cta	p.L907L		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	907					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GAAAGGAGTTTTAACAGCAAT	0.398000														106			60		0	0	0.003610	0	0
DROSHA	29102	broad.mit.edu	37	5	31451648	31451648	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:31451648G>A	uc003jhg.2	-	19	3033	c.2674C>T	c.(2674-2676)Ctg>Ttg	p.L892L	DROSHA_uc003jhh.2_Silent_p.L855L|DROSHA_uc003jhi.2_Silent_p.L855L	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	892	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 1.				RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						ACCTGCAACAGACAACGATCT	0.403000														10			3		0	0	0.004672	0	0
RNF148	378925	broad.mit.edu	37	7	122342631	122342631	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:122342631C>G	uc003vkk.1	-	0	391	c.174G>C	c.(172-174)gaG>gaC	p.E58D	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	Homo sapiens ring finger protein 148 (RNF148), mRNA.	58						integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						ACACTCCACTCTCTCCTAATT	0.448000														26			8		0	0	0.004482	0	0
WDR78	79819	broad.mit.edu	37	1	67299299	67299299	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:67299299G>A	uc001dcx.3	-	12	2038	c.1982C>T	c.(1981-1983)gCt>gTt	p.A661V	WDR78_uc009waw.3_Missense_Mutation_p.A407V|WDR78_uc009wax.3_Non-coding_Transcript	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	661										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CATTCCAGGAGCCTGTCGAGA	0.343000														31			9		0	0	0.004482	0	0
TSIX	9383	broad.mit.edu	37	X	73040921	73040921	+	RNA	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:73040921C>A	uc004ebn.2	+	0		c.28882C>A			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		TAATCCATTCCCCATCCCCAG	0.363000														5			8		0.000157383	0.000171913	0.003080	1	0
TLN2	83660	broad.mit.edu	37	15	63089531	63089531	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:63089531C>T	uc002alb.4	+	44	6164	c.6164C>T	c.(6163-6165)aCc>aTc	p.T2055I	TLN2_uc002alc.4_Missense_Mutation_p.T448I	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	2055					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCAGCAGCCACCATCACCCAG	0.647000														33			21		0	0	0.010504	0	0
TTN	7273	broad.mit.edu	37	2	179638298	179638298	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179638298C>T	uc021vsy.1	-	31	7710	c.7485G>A	c.(7483-7485)gtG>gtA	p.V2495V	TTN_uc021vsz.1_Silent_p.V2449V|TTN_uc021vta.1_Silent_p.V2449V|TTN_uc021vtb.1_Silent_p.V2449V|TTN_uc002unb.2_Silent_p.V2495V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2495	Ig-like 14.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R2494C(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)			TAGTACCTTTCACAATGGCCT	0.428000														35			20		0	0	0.001882	0	0
ST18	9705	broad.mit.edu	37	8	53073993	53073993	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:53073993G>A	uc003xqz.2	-	8	1692	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	ST18_uc011ldq.1_Silent_p.F159F|ST18_uc011ldr.1_Silent_p.F477F|ST18_uc011lds.1_Silent_p.F417F|ST18_uc003xra.2_Silent_p.F512F|ST18_uc003xrb.2_Silent_p.F512F	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	512						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGCGTTTACCGAAAACTTGGG	0.438000														60			11		0	0	0.000978	0	0
PDE4C	5143	broad.mit.edu	37	19	18329177	18329177	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:18329177G>A	uc010xqc.2	-	9	1677	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S	PDE4C_uc002nik.4_Silent_p.S399S|PDE4C_uc002nil.4_Silent_p.S399S|PDE4C_uc002nig.4_Intron|PDE4C_uc002nih.4_Silent_p.S169S|PDE4C_uc010ebk.3_Silent_p.S293S|PDE4C_uc002nii.4_Silent_p.S367S|PDE4C_uc002nif.4_Silent_p.S168S|PDE4C_uc010ebl.3_Silent_p.S113S	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	399					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GCACATGCGTGGACTGGGCCA	0.662000														75			46		0	0	0.003610	0	0
SMR3A	26952	broad.mit.edu	37	4	71232694	71232694	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:71232694C>T	uc003hfg.1	+	2	469	c.388C>T	c.(388-390)Cct>Tct	p.P130S	SMR3A_uc011cas.2_Intron	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3A (SMR3A), mRNA.	130	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TCCTGCCCTCCCTACTCCTGC	0.493000														23			5		0	0	0.001168	0	0
SLC15A2	6565	broad.mit.edu	37	3	121643813	121643813	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:121643813C>T	uc003eep.2	+	12	1210	c.1057C>T	c.(1057-1059)Ctt>Ttt	p.L353F	SLC15A2_uc011bjn.1_Missense_Mutation_p.L322F	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	353					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CCTTCTGGTTCTTATCTTCAT	0.383000														98			25		0	0	0.004656	0	0
CHRD	8646	broad.mit.edu	37	3	184106376	184106376	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:184106376G>A	uc003fov.3	+	21	2801	c.2555_splice	c.e21-1	p.V852_splice	CHRD_uc003fow.3_Splice_Site_p.V482_splice|CHRD_uc003fox.3_Splice_Site_p.V852_splice|CHRD_uc003foy.3_Splice_Site_p.V482_splice|CHRD_uc010hyc.3_Splice_Site_p.V442_splice|CHRD_uc011brr.2_Splice_Site_p.V394_splice	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	852					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTCAACAGTGGGGTCGGGGG	0.587000														97			32		0	0	0.009718	0	0
ATP10B	23120	broad.mit.edu	37	5	160061514	160061514	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:160061514C>T	uc003lym.1	-	11	2075	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	ATP10B_uc003lyp.2_Missense_Mutation_p.D410N|ATP10B_uc011deg.1_Missense_Mutation_p.D454N|ATP10B_uc003lyn.3_5'UTR|ATP10B_uc003lyo.2_Missense_Mutation_p.D382N	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	410					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGGATAAATCGGTCTCTTCA	0.493000														74			28		0	0	0.002836	0	0
EMR1	2015	broad.mit.edu	37	19	6897289	6897289	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:6897289G>A	uc002mfw.3	+	3	406	c.368G>A	c.(367-369)gGa>gAa	p.G123E	EMR1_uc010dvc.3_Missense_Mutation_p.G123E|EMR1_uc010dvb.3_Intron|EMR1_uc010xji.2_Intron|EMR1_uc010xjj.2_Missense_Mutation_p.G123E	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	123	EGF-like 2; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.G123V(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGGGTCCCAGGAAAGCCGGGC	0.498000														32			16		0	0	0.007413	0	0
COL1A2	1278	broad.mit.edu	37	7	94053670	94053670	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:94053670C>T	uc003ung.1	+	40	3059	c.2588C>T	c.(2587-2589)cCt>cTt	p.P863L	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Non-coding_Transcript	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	863					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ACTCCAGGTCCTCAGGGTCTT	0.502000										HNSCC(75;0.22)				82			44		0	0	0.003610	0	0
EPHB6	2051	broad.mit.edu	37	7	142566055	142566055	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142566055C>T	uc011kst.2	+	13	2762	c.1975C>T	c.(1975-1977)Cga>Tga	p.R659*	EPHB6_uc011ksu.2_Nonsense_Mutation_p.R659*|EPHB6_uc003wbs.3_Nonsense_Mutation_p.R367*|EPHB6_uc003wbt.3_Nonsense_Mutation_p.R133*|EPHB6_uc003wbu.3_Nonsense_Mutation_p.R367*|EPHB6_uc003wbv.3_Nonsense_Mutation_p.R43*	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	659						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TCAGGCCATCCGAGAACTTGC	0.562000														42			31		0	0	0.008361	0	0
PGBD1	84547	broad.mit.edu	37	6	28264676	28264676	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:28264676C>T	uc003nky.3	+	4	1146	c.726C>T	c.(724-726)ctC>ctT	p.L242L	PGBD1_uc003nkz.3_Silent_p.L242L	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	242					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GGAGGAACCTCTGTGGGAACT	0.512000														49			23		0	0	0.003954	0	0
FAM46D	169966	broad.mit.edu	37	X	79698902	79698902	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:79698902C>T	uc022bzm.1	+	0	864	c.864C>T	c.(862-864)ttC>ttT	p.F288F	FAM46D_uc004edl.1_Silent_p.F288F|FAM46D_uc004edm.2_Silent_p.F288F	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.	288										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						ACAACCATTTCATAGGTGAAG	0.358000														10			26		0	0	0.003954	0	0
SRGAP3	9901	broad.mit.edu	37	3	9089102	9089102	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:9089102C>T	uc003brf.1	-	9	2057	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N	SRGAP3_uc003brg.1_Missense_Mutation_p.D461N|SRGAP3_uc003bri.1_Non-coding_Transcript|SRGAP3_uc003brj.1_Missense_Mutation_p.D321N	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	461					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TTGAGTAAATCGTGCTTGGCC	0.547000			T	RAF1	pilocytic astrocytoma									58			6		0	0	0.001984	0	0
HDGFRP3	50810	broad.mit.edu	37	15	83826717	83826717	+	Nonsense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:83826717C>A	uc002bjs.1	-	2	393	c.238G>T	c.(238-240)Gga>Tga	p.G80*		NM_016073	NP_057157	Q9Y3E1	HDGR3_HUMAN	Homo sapiens hepatoma-derived growth factor, related protein 3 (HDGFRP3), mRNA.	80					cell proliferation	nucleus	growth factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						TCGTTAAATCCTTTCCGTTTG	0.368000														26			9		2.17888e-05	2.38404e-05	0.006214	1	0
PDP1	54704	broad.mit.edu	37	8	94935465	94935465	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:94935465C>T	uc011lgn.2	+	1	1404	c.1355C>T	c.(1354-1356)cCt>cTt	p.P452L	PDP1_uc003ygf.3_Missense_Mutation_p.P418L|PDP1_uc003yge.3_Missense_Mutation_p.P393L|PDP1_uc010max.3_Missense_Mutation_p.P418L|PDP1_uc011lgm.2_Missense_Mutation_p.P393L|PDP1_uc022ayg.1_Missense_Mutation_p.P393L	NM_001161778	NP_001155250	Q9P0J1	PDP1_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	393					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	p.Y451*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						CACACACCTCCTTATCTCACT	0.443000														84			19		0	0	0.008871	0	0
IGSF1	3547	broad.mit.edu	37	X	130415215	130415215	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:130415215C>T	uc004ewe.4	-	8	1906	c.1623G>A	c.(1621-1623)tgG>tgA	p.W541*	IGSF1_uc004ewd.3_Nonsense_Mutation_p.W541*|IGSF1_uc022cdv.1_Nonsense_Mutation_p.W532*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.W521*	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	541					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						TCCGACACTTCCACCTTATCC	0.483000														32			68		0	0	0.003610	0	0
MMP26	56547	broad.mit.edu	37	11	5011075	5011075	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5011075G>A	uc001lzv.3	+	1	315	c.297G>A	c.(295-297)tgG>tgA	p.W99*		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	99					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GATGCAAGTGGAATAAGCACA	0.527000														25			10		0	0	0.006214	0	0
INMT	11185	broad.mit.edu	37	7	30793422	30793422	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:30793422C>T	uc003tbs.1	+	1	246	c.230C>T	c.(229-231)tCc>tTc	p.S77F	FAM188B_uc010kwe.3_5'UTR|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Missense_Mutation_p.S76F	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	77						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						GCCTGTGATTCCTTCCAAGAC	0.567000														177			107		0	0	0.003610	0	0
KCNV2	169522	broad.mit.edu	37	9	2718181	2718181	+	Missense_Mutation	SNP	G	A	A	rs140256288		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:2718181G>A	uc003zho.2	+	0	656	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	148						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GCAGACAGACGAATACTTCTT	0.657000														20			5		0	0	0.001168	0	0
ZNF782	158431	broad.mit.edu	37	9	99580357	99580357	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:99580357G>A	uc004awp.1	-	5	2229	c.1948C>T	c.(1948-1950)Cag>Tag	p.Q650*	ZNF782_uc011lup.1_Nonsense_Mutation_p.Q518*	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	Homo sapiens zinc finger protein 782 (ZNF782), mRNA.	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TCCCCACACTGATTACAATTA	0.413000														46			23		0	0	0.009535	0	0
CDH18	1016	broad.mit.edu	37	5	19571923	19571923	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:19571923T>G	uc003jgd.3	-	7	1552	c.1018A>C	c.(1018-1020)Aag>Cag	p.K340Q	CDH18_uc011cnm.2_Missense_Mutation_p.K340Q|CDH18_uc003jgc.3_Missense_Mutation_p.K340Q|CDH18_uc021xwu.1_Missense_Mutation_p.K340Q	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	340	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TATGACTTCTTTTTCTCATAG	0.308000														21			9		0	0	0.000978	0	0
EPHA7	2045	broad.mit.edu	37	6	93967867	93967867	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:93967867C>T	uc003poe.3	-	10	2301	c.2060G>A	c.(2059-2061)gGg>gAg	p.G687E	EPHA7_uc003pof.3_Missense_Mutation_p.G682E|EPHA7_uc011eac.2_Missense_Mutation_p.G683E	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	687	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTCAAACTGCCCCATGATGCT	0.393000														47			4		0	0	0.009096	0	0
KALRN	8997	broad.mit.edu	37	3	124351433	124351433	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:124351433G>A	uc003ehg.3	+	34	5470	c.5343G>A	c.(5341-5343)ggG>ggA	p.G1781G	KALRN_uc003ehi.3_Silent_p.G154G|KALRN_uc003ehk.3_Silent_p.G84G|KALRN_uc003ehj.2_Silent_p.G84G	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1781					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTAACAGCGGGAAGGCAGATG	0.557000														44			19		0	0	0.010504	0	0
PCLO	27445	broad.mit.edu	37	7	82544526	82544526	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82544526G>A	uc003uhx.2	-	6	13065	c.12776C>T	c.(12775-12777)tCt>tTt	p.S4259F	PCLO_uc003uhv.2_Missense_Mutation_p.S4259F|PCLO_uc010lec.3_Missense_Mutation_p.S1224F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4190	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTGCCAAGAGAAGATCCCAT	0.468000														7			7		0	0	0.001984	0	0
NBEAL1	65065	broad.mit.edu	37	2	203980784	203980784	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:203980784C>T	uc002uzt.3	+	16	2829	c.2496C>T	c.(2494-2496)taC>taT	p.Y832Y		NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	832							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTCTTTACTACACAGCAAAGG	0.383000														300			97		0	0	0.003610	0	0
CSMD3	114788	broad.mit.edu	37	8	113841934	113841934	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:113841934G>A	uc003ynu.3	-	11	1999	c.1840C>T	c.(1840-1842)Cct>Tct	p.P614S	CSMD3_uc003ynt.3_Missense_Mutation_p.P574S|CSMD3_uc011lhx.2_Missense_Mutation_p.P510S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	614	CUB 3.					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						ACTGTCCTAGGATCTCCAACT	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				25			8		0	0	0.006214	0	0
THBS1	7057	broad.mit.edu	37	15	39885651	39885651	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:39885651G>A	uc001zkh.3	+	18	3228	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K	THBS1_uc010bbi.3_Missense_Mutation_p.E489K	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	1017	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CATCAACACCGAAAGGGACGA	0.493000														125			57		0	0	0.003610	0	0
MYO18B	84700	broad.mit.edu	37	22	26164822	26164822	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:26164822C>T	uc003abz.1	+	3	1189	c.939C>T	c.(937-939)atC>atT	p.I313I	MYO18B_uc003aca.1_Silent_p.I194I|MYO18B_uc010guy.1_Silent_p.I194I|MYO18B_uc010guz.1_Silent_p.I194I|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	313						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						GGCCCCAAATCCCTGGGAGAA	0.532000														13			5		0	0	0.001168	0	0
FSHR	2492	broad.mit.edu	37	2	49190763	49190763	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:49190763G>A	uc002rww.3	-	9	1307	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	FSHR_uc010fbn.3_Silent_p.F373F|FSHR_uc002rwx.3_Silent_p.F337F	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	399					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.R398M(1)|p.R398S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGCACATAAGGAACCTGGGGA	0.453000									Gonadal Dysgenesis, 46 XX					32			20		0	0	0.001882	0	0
BANF2	140836	broad.mit.edu	37	20	17716333	17716333	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:17716333C>T	uc010zrs.1	+	2	185	c.171C>T	c.(169-171)ttC>ttT	p.F57F	BANF2_uc002wqa.2_Silent_p.F50F|BANF2_uc002wpz.2_Silent_p.F50F	NM_001159495	NP_848572	Q9H503	BAFL_HUMAN	Homo sapiens barrier to autointegration factor 2 (BANF2), transcript variant 3, mRNA.	50						cytoplasm|nucleus	DNA binding	p.E57K(1)		large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						TGGGACAATTCCTTCTGATGC	0.542000														67			17		0	0	0.008871	0	0
FAM75D1	389763	broad.mit.edu	37	9	84608517	84608517	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:84608517C>T	uc004amn.3	+	3	3179	c.3132C>T	c.(3130-3132)ccC>ccT	p.P1044P		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1044						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						GCTCATTCCCCATCCTCGGTC	0.428000														128			55		0	0	0.003610	0	0
RBP1	5947	broad.mit.edu	37	3	139257667	139257667	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:139257667C>T	uc003eti.2	-	1	505	c.394G>A	c.(394-396)Gag>Aag	p.E132K	RBP1_uc011bmx.2_Missense_Mutation_p.E132K|RBP1_uc010huj.3_Non-coding_Transcript|RBP1_uc011bmy.2_Missense_Mutation_p.E132K	NM_002899	NP_002890	P09455	RET1_HUMAN	Homo sapiens retinol binding protein 1, cellular (RBP1), transcript variant 1, mRNA.	70						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	TCCTCAAACTCCTTCCCAACC	0.557000														58			29		0	0	0.006320	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834348	101834348	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:101834348C>T	uc003knn.3	-	0	373	c.201G>A	c.(199-201)agG>agA	p.R67R	SLCO6A1_uc003kno.3_Silent_p.R67R|SLCO6A1_uc003knp.3_Silent_p.R67R|SLCO6A1_uc003knq.3_Silent_p.R67R	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	67						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGGCTTTTTTCCTTTTTCGGA	0.537000														73			27		0	0	0.008361	0	0
C8orf34	116328	broad.mit.edu	37	8	69351845	69351846	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:69351845_69351846GG>AA	uc010lyz.3	+	1	730_731	c.439_440GG>AA	c.(439-441)gga>AAa	p.G147K	C8orf34_uc010lyx.2_Missense_Mutation_p.G147K|C8orf34_uc010lyy.2_Missense_Mutation_p.G147K|C8orf34_uc003xyb.3_Missense_Mutation_p.G36K	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	61					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AACTTTGTCTGGATCTGCAGCT	0.376000														20			19		0	0	0.004672	0	0
TBX15	6913	broad.mit.edu	37	1	119427732	119427732	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:119427732G>A	uc001ehl.1	-	7	1429	c.1114C>T	c.(1114-1116)Cag>Tag	p.Q372*	TBX15_uc009whj.1_Nonsense_Mutation_p.Q196*	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	478						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		ATGACATACTGAAACTGGGAA	0.567000														23			20		0	0	0.010504	0	0
CES5A	221223	broad.mit.edu	37	16	55880749	55880749	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:55880749C>T	uc021tir.1	-	12	1660	c.1514G>A	c.(1513-1515)gGa>gAa	p.G505E	CES5A_uc002eip.2_Missense_Mutation_p.G476E|CES5A_uc002eio.2_Missense_Mutation_p.G426E|CES5A_uc002eiq.2_Missense_Mutation_p.G237E|CES5A_uc002eir.2_Missense_Mutation_p.G370E	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	476						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTCCGTGGCTCCTTCTGAAGG	0.537000														70			56		0	0	0.003610	0	0
XKR3	150165	broad.mit.edu	37	22	17288700	17288700	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:17288700G>A	uc002zlv.3	-	1	362	c.264C>T	c.(262-264)ttC>ttT	p.F88F	XKR3_uc011agf.2_Silent_p.F88F	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	88						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGTCTTTGTTGAAAAACATCA	0.338000														44			14		0	0	0.003163	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21422553	21422553	+	Missense_Mutation	SNP	C	T	T	rs150224028	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:21422553C>T	uc001rer.3	-	13	2193	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	SLCO1A2_uc010siq.2_Missense_Mutation_p.E516K|SLCO1A2_uc001res.3_Missense_Mutation_p.E648K|SLCO1A2_uc010sio.2_Missense_Mutation_p.E516K|SLCO1A2_uc010sip.2_Missense_Mutation_p.E516K	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	648					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						CACTCATTTTCCTTCCCTTTG	0.333000														42			28		0	0	0.007291	0	0
ME1	4199	broad.mit.edu	37	6	83933564	83933564	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:83933564G>A	uc003pjy.3	-	11	1629	c.1364C>T	c.(1363-1365)tCc>tTc	p.S455F	ME1_uc011dzb.2_Missense_Mutation_p.S380F|ME1_uc011dzc.2_Missense_Mutation_p.S289F	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	455					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	GAACACATAGGAATTGTTGCC	0.453000														17			7		0	0	0.001984	0	0
SLC2A4	6517	broad.mit.edu	37	17	7186890	7186890	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:7186890C>T	uc002gfp.3	+	2	449	c.249C>T	c.(247-249)ctC>ctT	p.L83L	SLC2A4_uc010cmd.3_Non-coding_Transcript|SLC2A4_uc021tpa.1_Silent_p.L73L	NM_001042	NP_001033	P14672	GTR4_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA.	83					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						TCTGGGCCCTCTCCGTGGCCA	0.612000														56			20		0	0	0.002780	0	0
UCKL1	54963	broad.mit.edu	37	20	62571990	62571990	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:62571990C>T	uc010gkn.3	-	11	1334	c.1259G>A	c.(1258-1260)gGc>gAc	p.G420D	UCKL1_uc011abm.2_Missense_Mutation_p.G405D|UCKL1_uc011abn.2_Non-coding_Transcript	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	Homo sapiens uridine-cytidine kinase 1-like 1 (UCKL1), transcript variant 1, mRNA.	420					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GAGGATGGTGCCGATGCGCAC	0.677000														16			10		0	0	0.006214	0	0
LOC644936	644936	broad.mit.edu	37	5	79595887	79595887	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:79595887C>T	uc010jai.3	-	0	411	c.270G>A	c.(268-270)caG>caA	p.Q90Q						Homo sapiens actin, beta pseudogene (LOC644936), non-coding RNA.																		TGGTGATGACCTGGCCATTGG	0.552000														10			3		0	0	0.004672	0	0
TECTA	7007	broad.mit.edu	37	11	120979942	120979942	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:120979942C>T	uc010rzo.2	+	2	221	c.221C>T	c.(220-222)tCc>tTc	p.S74F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	74					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGAGTTGTTTCCTTCAATGTG	0.458000														17			10		0	0	0.006214	0	0
TSPAN10	83882	broad.mit.edu	37	17	79612079	79612079	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:79612079C>T	uc010die.3	+	1	204	c.98C>T	c.(97-99)cCa>cTa	p.P33L	TSPAN10_uc021ufc.1_Missense_Mutation_p.P71L|TSPAN10_uc002kaw.2_Missense_Mutation_p.P33L|TSPAN10_uc010did.2_Non-coding_Transcript	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	Homo sapiens tetraspanin 10 (TSPAN10), mRNA.	33						integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGCCTAGGTCCAGTGCCCAGG	0.657000														29			10		0	0	0.001368	0	0
ANK2	287	broad.mit.edu	37	4	114278605	114278605	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:114278605C>T	uc003ibe.4	+	37	8931	c.8831C>T	c.(8830-8832)aCc>aTc	p.T2944I	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.T2959I	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2911					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T2944T(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAAAGCAAAACCCAAACAGAT	0.408000														33			49		0	0	0.003610	0	0
ADNP	23394	broad.mit.edu	37	20	49510758	49510758	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:49510758A>T	uc002xvt.1	-	4	838	c.493T>A	c.(493-495)Tat>Aat	p.Y165N	ADNP_uc002xvu.1_Missense_Mutation_p.Y165N	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	165						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TTACAGTAATAAACAGCTTGC	0.428000														111			19		0	0	0.002299	0	0
ABCB9	23457	broad.mit.edu	37	12	123433332	123433332	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:123433332C>T	uc001udm.4	-	4	1202	c.892G>A	c.(892-894)Gac>Aac	p.D298N	ABCB9_uc021rfo.1_Missense_Mutation_p.D298N|ABCB9_uc021rfp.1_Missense_Mutation_p.D298N|ABCB9_uc001udo.4_Missense_Mutation_p.D298N|ABCB9_uc010taj.2_Missense_Mutation_p.D298N|ABCB9_uc001udq.3_Missense_Mutation_p.D80N|ABCB9_uc021rfq.1_Missense_Mutation_p.D298N|ABCB9_uc001udr.3_Missense_Mutation_p.D298N	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA.	298	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	TAP complex|lysosomal membrane|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GAGACCAGGTCGCTGACCATG	0.617000														12			18		0	0	0.010504	0	0
OR2T2	401992	broad.mit.edu	37	1	248616379	248616379	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248616379C>T	uc001iek.1	+	0	281	c.281C>T	c.(280-282)tCc>tTc	p.S94F		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAGACCATTTCCTTCCTGGGC	0.522000														191			36		0	0	0.007835	0	0
DAB2IP	153090	broad.mit.edu	37	9	124535061	124535061	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:124535061C>T	uc004bln.3	+	11	2239	c.2170C>T	c.(2170-2172)Cag>Tag	p.Q724*	DAB2IP_uc004blo.3_Nonsense_Mutation_p.Q628*|DAB2IP_uc004blp.3_Nonsense_Mutation_p.Q157*	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	752					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGTGGACCTCCAGGACGCCCG	0.692000														14			8		0	0	0.003080	0	0
EPC1	80314	broad.mit.edu	37	10	32560821	32560821	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:32560821C>T	uc001iwg.1	-	13	2369	c.2099G>A	c.(2098-2100)aGt>aAt	p.S700N	EPC1_uc001iwi.3_Missense_Mutation_p.S627N|EPC1_uc001iwh.1_Missense_Mutation_p.S677N	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	Homo sapiens enhancer of polycomb homolog 1 (Drosophila) (EPC1), mRNA.	700					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nuclear membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TGTAGTACTACTGAGGTGTAA	0.353000														25			4		0	0	0.001168	0	0
NPHP4	261734	broad.mit.edu	37	1	5923958	5923958	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:5923958A>T	uc001alq.2	-	28	4400	c.4132T>A	c.(4132-4134)Tcc>Acc	p.S1378T	MIR4689_uc021ofn.1_5'Flank|NPHP4_uc001alr.1_3'UTR	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	1378					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTGGAAGGAGTCCTCTCTG	0.607000														41			12		0	0	0.000978	0	0
MUC4	4585	broad.mit.edu	37	3	195517442	195517442	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:195517442G>A	uc021xjp.1	-	1	1165	c.1009C>T	c.(1009-1011)Caa>Taa	p.Q337*	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Nonsense_Mutation_p.Q219*	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	342					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGTTGATTTGAGATACTCTG	0.458000														116			63		0	0	0.003610	0	0
ZNF569	148266	broad.mit.edu	37	19	37904098	37904098	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:37904098G>A	uc002ogj.3	-	8	2466	c.1534C>T	c.(1534-1536)Cat>Tat	p.H512Y	ZNF569_uc002ogh.3_Missense_Mutation_p.H329Y|ZNF569_uc002ogi.3_Missense_Mutation_p.H488Y	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCCAGAATGAATTTTTTCA	0.373000														24			9		0	0	0.006214	0	0
LURAP1L	286343	broad.mit.edu	37	9	12821462	12821462	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:12821462G>A	uc003zkw.3	+	1	1093	c.390G>A	c.(388-390)tgG>tgA	p.W130*		NM_203403	NP_981948	Q8IV03	CI150_HUMAN	Homo sapiens chromosome 9 open reading frame 150 (C9orf150), mRNA.	133																	CCATCAAGTGGATGATCGAAG	0.512000														40			24		0	0	0.002780	0	0
TBXAS1	6916	broad.mit.edu	37	7	139715636	139715636	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:139715636G>A	uc011kqv.2	+	11	1716	c.1481G>A	c.(1480-1482)aGc>aAc	p.S494N	TBXAS1_uc003vvh.3_Missense_Mutation_p.S448N|TBXAS1_uc010lne.3_Missense_Mutation_p.S380N|TBXAS1_uc011kqu.2_Missense_Mutation_p.S399N|TBXAS1_uc003vvi.3_Missense_Mutation_p.S448N|TBXAS1_uc011kqw.2_Missense_Mutation_p.S428N|TBXAS1_uc003vvj.3_Missense_Mutation_p.S448N	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	447					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CACTGGCCAAGCCCGGAGACC	0.592000														38			17		0	0	0.010504	0	0
SMAD9	4093	broad.mit.edu	37	13	37427707	37427707	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:37427707G>A	uc001uvw.3	-	5	1452	c.1109C>T	c.(1108-1110)cCa>cTa	p.P370L	SMAD9_uc001uvx.3_Missense_Mutation_p.P333L|SMAD9_uc010tep.2_Missense_Mutation_p.P163L	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.	370	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GACGGTAGCTGGGTGGAAGCC	0.572000														16			7		0	0	0.003080	0	0
FBLN5	10516	broad.mit.edu	37	14	92343975	92343975	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:92343975G>A	uc010aue.3	-	10	1637	c.1164C>T	c.(1162-1164)acC>acT	p.T388T	FBLN5_uc010aud.3_Silent_p.T352T|FBLN5_uc001xzx.4_Silent_p.T347T|FBLN5_uc001xzw.3_5'Flank	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	347					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				GGTACAAGATGGTAAAGGGCT	0.547000														22			33		0	0	0.004289	0	0
SPTA1	6708	broad.mit.edu	37	1	158650416	158650416	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158650416C>T	uc001fst.1	-	4	834	c.635G>A	c.(634-636)gGg>gAg	p.G212E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	212					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	p.G212V(2)		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)					AACAACTCTCCCTTCTTTAGC	0.463000														91			33		0	0	0.003755	0	0
HMCN1	83872	broad.mit.edu	37	1	186017874	186017874	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:186017874G>A	uc001grq.1	+	42	6710	c.6481_splice	c.e42-1	p.I2161_splice		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2161	Ig-like C2-type 19.				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						TTTGTTTTCAGATTGAAGATG	0.313000														29			23		0	0	0.004656	0	0
ITK	3702	broad.mit.edu	37	5	156667124	156667124	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:156667124C>T	uc003lwo.1	+	9	986	c.904C>T	c.(904-906)Cct>Tct	p.P302S		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	302	SH2.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAATGACAATCCTAAGCGATA	0.373000			T	SYK	peripheral T-cell lymphoma									243			66		0	0	0.003610	0	0
ECT2L	345930	broad.mit.edu	37	6	139170409	139170409	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:139170409G>A	uc003qif.2	+	8	1232	c.907G>A	c.(907-909)Gtg>Atg	p.V303M	ECT2L_uc021zfx.1_Missense_Mutation_p.V303M|ECT2L_uc011edq.1_Missense_Mutation_p.V234M	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	303					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TCTCCAGATGGTGATGGAGAG	0.393000			"""N, Splice, Mis"""		ETP ALL									60			49		0	0	0.003610	0	0
GJA1	2697	broad.mit.edu	37	6	121768626	121768626	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:121768626C>T	uc003pyr.3	+	1	883	c.633C>T	c.(631-633)atC>atT	p.I211I	GJA1_uc011ebo.1_Silent_p.I112I|GJA1_uc011ebp.1_5'UTR|GJA1_uc021zel.1_Silent_p.I211I	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	211					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCTTCATCATCTTCATGCTGG	0.483000														81			48		0	0	0.003610	0	0
CSMD1	64478	broad.mit.edu	37	8	3566012	3566012	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:3566012C>T	uc022aqr.1	-	7	1322	c.932_splice	c.e7-1	p.V311_splice		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	311	CUB 2.					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)		TCGCCTTTTTCACTGGAAGAA	0.428000														27			4		0	0	0.009096	0	0
GLT25D2	23127	broad.mit.edu	37	1	183909805	183909805	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:183909805T>G	uc001gqr.3	-	10	1886	c.1514A>C	c.(1513-1515)gAa>gCa	p.E505A	GLT25D2_uc010poj.1_Missense_Mutation_p.E505A|GLT25D2_uc001gqp.3_Missense_Mutation_p.E113A|GLT25D2_uc001gqq.3_Missense_Mutation_p.E242A|GLT25D2_uc001gqs.3_Missense_Mutation_p.E385A	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 2 (GLT25D2), mRNA.	505					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|skin(2)	31						CTGTGCTCCTTCCAGAGAGAT	0.527000														60			26		0	0	0.005443	0	0
C2orf65	130951	broad.mit.edu	37	2	74834197	74834197	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:74834197C>T	uc002smy.3	-	3	697	c.580G>A	c.(580-582)Gat>Aat	p.D194N	C2orf65_uc010ysa.2_Missense_Mutation_p.D194N|C2orf65_uc002smz.2_Missense_Mutation_p.D194N	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	194					RNA processing|chromatin assembly|female gamete generation|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						TTGCTGGTATCCTCAACAGGA	0.423000														39			24		0	0	0.003330	0	0
PSG4	5672	broad.mit.edu	37	19	43421897	43421897	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:43421897C>A	uc002ovj.1	-	0	147	c.48G>T	c.(46-48)aaG>aaT	p.K16N	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Missense_Mutation_p.K16N	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	16					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GCAGGAGCCCCTTCCAGGTGA	0.587000														75			34		2.87052e-16	3.16928e-16	0.005524	1	0
RGPD4	285190	broad.mit.edu	37	2	108475844	108475844	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:108475844C>T	uc010ywk.2	+	10	1550	c.1468C>T	c.(1468-1470)Ctt>Ttt	p.L490F	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.	490					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGTATTTCTCCTTGGAGTAGT	0.313000														51			22		0	0	0.002836	0	0
PDGFD	80310	broad.mit.edu	37	11	103870929	103870929	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:103870929C>T	uc001phq.3	-	1	551	c.179G>A	c.(178-180)gGa>gAa	p.G60E	PDGFD_uc001php.3_Missense_Mutation_p.G54E	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA.	60	CUB.				positive regulation of cell division	Golgi membrane|endoplasmic reticulum lumen|extracellular region	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GTAGCCGTTTCCTTTCACCTG	0.478000														57			30		0	0	0.004289	0	0
ZNF845	91664	broad.mit.edu	37	19	53854385	53854385	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:53854385A>G	uc010ydv.1	+	3	574	c.457A>G	c.(457-459)Atg>Gtg	p.M153V	ZNF845_uc010ydw.1_Missense_Mutation_p.M153V	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TGAACTCCACATGTTTCAGAC	0.423000														129			5		0	0	0.000602	0	0
CTNNA2	1496	broad.mit.edu	37	2	80136838	80136838	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:80136838G>A	uc010ysh.2	+	5	976	c.971G>A	c.(970-972)cGa>cAa	p.R324Q	CTNNA2_uc010yse.2_Missense_Mutation_p.R324Q|CTNNA2_uc010ysf.2_Missense_Mutation_p.R324Q|CTNNA2_uc010ysg.2_Missense_Mutation_p.R324Q	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	324					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.R324R(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCCTGCACGCGAGACGACCGG	0.647000														54			8		0	0	0.003080	0	0
LPPR1	54886	broad.mit.edu	37	9	104032288	104032288	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:104032288G>A	uc004bbb.3	+	2	589	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	LPPR1_uc011lvi.2_Missense_Mutation_p.E40K|LPPR1_uc004bbc.3_Missense_Mutation_p.E64K|LPPR1_uc010mtc.3_Missense_Mutation_p.E48K	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	64						integral to membrane	catalytic activity										AGGGACAGAGGAAGAAAGCTT	0.463000														29			13		0	0	0.001855	0	0
SLC44A5	204962	broad.mit.edu	37	1	75688085	75688085	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:75688085C>T	uc010oqz.1	-	12	1229	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	SLC44A5_uc001dgt.2_Missense_Mutation_p.R349Q|SLC44A5_uc001dgs.2_Missense_Mutation_p.R307Q|SLC44A5_uc001dgr.2_Missense_Mutation_p.R307Q|SLC44A5_uc001dgu.3_Missense_Mutation_p.R349Q|SLC44A5_uc010ora.2_Missense_Mutation_p.R343Q|SLC44A5_uc010orb.2_Missense_Mutation_p.R219Q	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	349						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GACTCGGATTCGATTCCTGAG	0.393000														40			15		0	0	0.004007	0	0
RFTN1	23180	broad.mit.edu	37	3	16419226	16419226	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:16419226C>T	uc003cay.3	-	5	1108	c.826_splice	c.e5+1	p.K276_splice	RFTN1_uc010hes.3_Splice_Site_p.K240_splice	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA.	276						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CATACTTACTCCCTGAGAGTG	0.483000														61			14		0	0	0.006122	0	0
FLG2	388698	broad.mit.edu	37	1	152328559	152328559	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152328559C>T	uc001ezw.4	-	2	1776	c.1703G>A	c.(1702-1704)gGa>gAa	p.G568E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	568	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCATGTTGTCCAAAGCCAGA	0.517000														167			95		0	0	0.003610	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6138236	6138236	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:6138236C>T	uc002kmz.4	-	13	1316	c.1156G>A	c.(1156-1158)Gga>Aga	p.G386R	L3MBTL4_uc002kmy.4_Missense_Mutation_p.G386R|L3MBTL4_uc010dkt.3_Missense_Mutation_p.G386R	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	386					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TGGCCTATTCCTCGGCACCCG	0.438000														14			6		0	0	0.004482	0	0
FSCN1	6624	broad.mit.edu	37	7	5643510	5643510	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:5643510C>T	uc003sou.3	+	3	1260	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F	FSCN1_uc003sov.3_Silent_p.F98F	NM_003088	NP_003079	Q16658	FSCN1_HUMAN	Homo sapiens fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1), mRNA.	376					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CAGAGCTCTTCCTCATGAAGC	0.647000														42			10		0	0	0.000978	0	0
ZNF214	7761	broad.mit.edu	37	11	7022082	7022082	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:7022082C>T	uc009yfh.1	-	2	1131	c.832G>A	c.(832-834)Gat>Aat	p.D278N	ZNF214_uc001mfa.2_Missense_Mutation_p.D278N|ZNF214_uc010ray.1_Missense_Mutation_p.D278N	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	Homo sapiens zinc finger protein 214 (ZNF214), mRNA.	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TCAACTTCATCACATCCGTAC	0.433000														101			22		0	0	0.003330	0	0
LRRC8C	84230	broad.mit.edu	37	1	90178523	90178523	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:90178523C>T	uc001dnl.4	+	2	636	c.394C>T	c.(394-396)Ctc>Ttc	p.L132F		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	132						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TTACCTTGTCCTCATCCATAC	0.443000														86			16		0	0	0.003163	0	0
SORCS3	22986	broad.mit.edu	37	10	106865239	106865239	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:106865239C>T	uc001kyi.1	+	6	1405	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	393						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GACATCAGTTCCCTGGTTGTC	0.498000														57			17		0	0	0.004990	0	0
SEZ6L	23544	broad.mit.edu	37	22	26706748	26706748	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:26706748G>A	uc003acb.3	+	6	1823	c.1627G>A	c.(1627-1629)Gag>Aag	p.E543K	SEZ6L_uc003acd.3_Missense_Mutation_p.E543K|SEZ6L_uc011akd.2_Missense_Mutation_p.E543K|SEZ6L_uc003ace.3_Missense_Mutation_p.E543K|SEZ6L_uc011akc.2_Missense_Mutation_p.E543K|SEZ6L_uc003acc.3_Missense_Mutation_p.E543K|SEZ6L_uc003acf.1_Missense_Mutation_p.E316K|SEZ6L_uc010gvc.1_Missense_Mutation_p.E316K	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	543	CUB 2.					endoplasmic reticulum membrane|integral to membrane		p.E543Q(2)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CATCCGCATCGAGTTCACGTC	0.597000														89			26		0	0	0.002445	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110451198	110451198	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:110451198G>A	uc003yne.3	+	31	3937	c.3833G>A	c.(3832-3834)gGa>gAa	p.G1278E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1278	IPT/TIG 6.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.V1277M(1)|p.V1277A(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTGTATGTTGGAGGAAAAACC	0.343000										HNSCC(38;0.096)				45			13		0	0	0.001368	0	0
CAB39L	81617	broad.mit.edu	37	13	49951247	49951247	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:49951247T>A	uc001vcw.3	-	2	630	c.132A>T	c.(130-132)aaA>aaT	p.K44N	CAB39L_uc001vcx.3_Missense_Mutation_p.K44N|CAB39L_uc010adf.3_Missense_Mutation_p.K41N	NM_030925	NP_112187	Q9H9S4	CB39L_HUMAN	Homo sapiens calcium binding protein 39-like (CAB39L), transcript variant 1, mRNA.	44					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding	p.K44E(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		CTTGCAGTGATTTAGACACTT	0.393000														31			6		0	0	0.001984	0	0
OR51B2	79345	broad.mit.edu	37	11	5345396	5345396	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5345396G>A	uc001mao.1	-	0	187	c.132C>T	c.(130-132)ctC>ctT	p.L44L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L44L(2)|p.L43L(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATGAGGTAGAGGAGCATGC	0.527000														66			23		0	0	0.002299	0	0
THBS1	7057	broad.mit.edu	37	15	39874870	39874870	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:39874870C>T	uc001zkh.3	+	2	723	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	182	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GTTGGACGTCCCCATCCAAAG	0.562000														19			9		0	0	0.008291	0	0
FRK	2444	broad.mit.edu	37	6	116288831	116288831	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:116288831C>T	uc003pwi.1	-	3	1129	c.682G>A	c.(682-684)Gag>Aag	p.E228K		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	228					negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		CGGTCTATCTCCCATTGGTCC	0.418000														38			5		0	0	0.000602	0	0
CYP3A7	1551	broad.mit.edu	37	7	99308381	99308381	+	Missense_Mutation	SNP	C	T	T	rs147031398		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:99308381C>T	uc003uru.3	-	9	1103	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	334					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GTATCAATTTCCTTCTGCACT	0.453000														32			17		0	0	0.006122	0	0
SULT6B1	391365	broad.mit.edu	37	2	37395156	37395156	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:37395156C>T	uc002rpu.3	-	6	741	c.720G>A	c.(718-720)atG>atA	p.M240I	SULT6B1_uc010yni.2_Non-coding_Transcript	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 6B, member 1 (SULT6B1), mRNA.	278						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				ATTTTTCATCCATTTCCTGGT	0.398000														45			14		0	0	0.002450	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55381350	55381350	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:55381350G>A	uc003pcn.3	-	4	598	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Missense_Mutation_p.R117C|HMGCLL1_uc010jzx.3_Missense_Mutation_p.R18C|HMGCLL1_uc011dxc.2_Intron|HMGCLL1_uc011dxd.2_Intron|HMGCLL1_uc003pcp.3_Intron	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	147							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACAGGATAGCGAACTCCTGGA	0.343000														58			19		0	0	0.001882	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70016326	70016326	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:70016326G>A	uc010vlq.1	-	3	554	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	CLEC18A_uc002exy.3_Intron|PDXDC2P_uc002eyb.3_Non-coding_Transcript|PDXDC2P_uc002eyc.3_Non-coding_Transcript					Homo sapiens pyridoxal-dependent decarboxylase domain containing 2, pseudogene (PDXDC2P), non-coding RNA.									p.R158C(2)|p.R126C(1)									TTCATCTTACGGATTTTAGCT	0.383000														33			9		0	0	0.004482	0	0
CSMD2	114784	broad.mit.edu	37	1	34312485	34312485	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:34312485C>T	uc001bxm.1	-	6	1210	c.1033_splice	c.e6+1	p.V345_splice	CSMD2_uc001bxn.1_Splice_Site_p.V305_splice	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	305	Sushi 2.					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)				ACCTGCCTACCTTGGTATTGG	0.612000														44			14		0	0	0.003163	0	0
APOB	338	broad.mit.edu	37	2	21245816	21245816	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:21245816C>T	uc002red.3	-	17	2831	c.2703G>A	c.(2701-2703)atG>atA	p.M901I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	901					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)	AGTTGGTGTTCATCTGGACCC	0.512000														236			142		0	0	0.003610	0	0
SLC22A7	10864	broad.mit.edu	37	6	43271893	43271893	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:43271893C>T	uc021yzt.1	+	9	1602	c.1503C>T	c.(1501-1503)atC>atT	p.I501I	SLC22A7_uc003ous.3_Silent_p.I499I|SLC22A7_uc003out.3_Silent_p.I499I	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	501						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	p.I501I(2)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			ATGGGGGGATCGCCCTGCTGG	0.652000														78			33		0	0	0.003755	0	0
MED16	10025	broad.mit.edu	37	19	880010	880010	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:880010G>A	uc002lqd.1	-	7	1431	c.1280C>T	c.(1279-1281)cCc>cTc	p.P427L	MED16_uc010drw.2_Missense_Mutation_p.P252L|MED16_uc002lqe.3_Missense_Mutation_p.P416L|MED16_uc002lqf.3_Missense_Mutation_p.P416L|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.P416L|MED16_uc010xfx.1_Missense_Mutation_p.P272L|MED16_uc010xfy.1_Intron	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	Homo sapiens mediator complex subunit 16 (MED16), mRNA.	427					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGACGGCGGGGCCCGCGGT	0.687000														15			7		0	0	0.003080	0	0
PLCH1	23007	broad.mit.edu	37	3	155200581	155200581	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:155200581T>C	uc021xge.1	-	22	3535	c.3258A>G	c.(3256-3258)ccA>ccG	p.P1086P	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Silent_p.P1048P	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1086					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AATGCTGCTTTGGGGAGAGAG	0.507000														106			59		0	0	0.003610	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420921	55420921	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:55420921G>A	uc001sgp.4	+	1	1076	c.698G>A	c.(697-699)gGa>gAa	p.G233E	NEUROD4_uc021qyr.1_Missense_Mutation_p.G233E	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	233					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AAGAGTTTGGGAGAATCGTCC	0.517000														17			42		0	0	0.008740	0	0
TG	7038	broad.mit.edu	37	8	133935696	133935696	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:133935696G>T	uc003ytw.3	+	21	4683	c.4642G>T	c.(4642-4644)Ggg>Tgg	p.G1548W	TG_uc010mdw.3_Missense_Mutation_p.G307W|TG_uc011ljb.2_5'UTR|TG_uc003ytx.1_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1548	Thyroglobulin type-1 11.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGACGGCGAGGGGCGGAGGCT	0.597000														42			15		7.05477e-17	7.79197e-17	0.004990	1	0
DTNA	1837	broad.mit.edu	37	18	32455268	32455268	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:32455268C>T	uc010dmn.1	+	16	1729	c.1728C>T	c.(1726-1728)ccC>ccT	p.P576P	DTNA_uc002kxw.2_Silent_p.P519P|DTNA_uc002kxz.2_Silent_p.P523P|DTNA_uc002kxy.2_Silent_p.P516P|DTNA_uc010dmj.3_Silent_p.P516P|DTNA_uc010xby.1_Silent_p.P266P|DTNA_uc002kye.3_Silent_p.P224P|DTNA_uc010xca.2_Silent_p.P228P|DTNA_uc010xbz.2_Silent_p.P285P	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	576					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TTCCCATGCCCATCCGGTCAG	0.592000														46			21		0	0	0.010504	0	0
ZNF501	115560	broad.mit.edu	37	3	44776090	44776090	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:44776090C>T	uc003cnu.1	+	2	578	c.177C>T	c.(175-177)ttC>ttT	p.F59F	ZNF501_uc021wwq.1_Silent_p.F59F	NM_145044	NP_659481	Q96CX3	ZN501_HUMAN	Homo sapiens zinc finger protein 501 (ZNF501), mRNA.	59					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)		GAAGTTGTTTCCGTAAACAGT	0.398000														41			6		0	0	0.001168	0	0
MYH8	4626	broad.mit.edu	37	17	10298471	10298471	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10298471C>T	uc002gmm.2	-	33	5036	c.4941G>A	c.(4939-4941)agG>agA	p.R1647R	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1647					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.Y1646C(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTTGGGTGTTCCTGTAGTTCC	0.458000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					67			86		0	0	0.003610	0	0
APOB	338	broad.mit.edu	37	2	21230014	21230014	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:21230014G>A	uc002red.3	-	25	9854	c.9726C>T	c.(9724-9726)ctC>ctT	p.L3242L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3242					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.L3242L(2)		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)	AGGTCCTGGGGAGCTCGTCGT	0.378000														243			88		0	0	0.003610	0	0
TCRBV14S1	0	broad.mit.edu	37	7	142423402	142423402	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142423402G>A	uc010lol.1	+	1	91	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron|TCRBV14S1_uc011ksj.1_Non-coding_Transcript|TCRBV14S1_uc022ant.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AGGCCCCCTGGAAGCCCAAGT	0.493000														37			8		0	0	0.003080	0	0
TRRAP	8295	broad.mit.edu	37	7	98509658	98509658	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:98509658C>T	uc003upp.3	+	17	2230	c.2021C>T	c.(2020-2022)tCc>tTc	p.S674F	TRRAP_uc011kis.2_Missense_Mutation_p.S674F|TRRAP_uc003upr.3_Missense_Mutation_p.S366F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	674					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTTGCCAATTCCTTCTTGGCA	0.413000														80			31		0	0	0.003271	0	0
STEAP4	79689	broad.mit.edu	37	7	87912071	87912071	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:87912071C>T	uc022agz.1	-	3	1092	c.869G>A	c.(868-870)cGa>cAa	p.R290Q	STEAP4_uc003ujs.3_Missense_Mutation_p.R290Q|STEAP4_uc010lek.3_Intron	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	290	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	p.R290Q(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					AAGCTGCTTTCGGCAAAGCAT	0.473000														30			11		0	0	0.000978	0	0
PEX2	5828	broad.mit.edu	37	8	77895647	77895647	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:77895647G>A	uc022awg.1	-	0	768	c.768C>T	c.(766-768)acC>acT	p.T256T	PEX2_uc003yax.3_Silent_p.T256T|PEX2_uc003yay.3_Silent_p.T256T|PEX2_uc022awe.1_Silent_p.T256T|PEX2_uc022awf.1_Silent_p.T256T	NM_001172087	NP_001165558	P28328	PEX2_HUMAN	Homo sapiens peroxisomal biogenesis factor 2 (PEX2), transcript variant 4, mRNA.	256					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						CACATCCTATGGTGTGAGGCA	0.438000														63			13		0	0	0.003163	0	0
VWCE	220001	broad.mit.edu	37	11	61048587	61048587	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:61048587G>A	uc001nra.3	-	7	1187	c.908C>T	c.(907-909)cCt>cTt	p.P303L	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	303						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGCCCCAGAAGGAGGGCTATG	0.677000														32			24		0	0	0.003330	0	0
GKAP1	80318	broad.mit.edu	37	9	86403586	86403586	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:86403586G>A	uc004amy.3	-	4	864	c.368C>T	c.(367-369)tCt>tTt	p.S123F	GKAP1_uc004amz.3_Missense_Mutation_p.S123F|GKAP1_uc011lsu.1_Non-coding_Transcript	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN	Homo sapiens G kinase anchoring protein 1 (GKAP1), transcript variant 1, mRNA.	123					signal transduction	Golgi apparatus		p.T122K(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						AAACATTTCAGATGTCAGCTA	0.289000														60			33		0	0	0.006999	0	0
TDRD5	163589	broad.mit.edu	37	1	179631338	179631338	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:179631338G>A	uc010pnp.2	+	14	2940	c.2422G>A	c.(2422-2424)Gga>Aga	p.G808R	TDRD5_uc021pfm.1_Missense_Mutation_p.G754R|TDRD5_uc001gnf.2_Missense_Mutation_p.G754R|TDRD5_uc021pfn.1_Missense_Mutation_p.G808R|TDRD5_uc001gnh.2_Missense_Mutation_p.G309R	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	804					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GATGGGAAAAGGAGGTGATGC	0.453000														29			26		0	0	0.003954	0	0
RBP3	5949	broad.mit.edu	37	10	48387922	48387923	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:48387922_48387923CC>TT	uc001jez.3	-	0	3069_3070	c.2955_2956GG>AA	c.(2953-2958)ctgggg>ctAAgg	p.G986R		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	986	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGGTCAGCCCCCAGGATCTCGG	0.614000														51			13		0	0	0.004672	0	0
BRF1	2972	broad.mit.edu	37	14	105688140	105688140	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:105688140C>T	uc001yqp.2	-	10	1523	c.1160G>A	c.(1159-1161)gGt>gAt	p.G387D	BRF1_uc010tyo.1_Missense_Mutation_p.G272D|BRF1_uc010typ.1_Missense_Mutation_p.G272D|BRF1_uc001yqk.2_5'UTR|BRF1_uc001yql.2_Missense_Mutation_p.G183D|BRF1_uc001yqo.2_Missense_Mutation_p.G149D|BRF1_uc010axg.1_Missense_Mutation_p.G360D|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_5'UTR	NM_001519	NP_663718	Q92994	TF3B_HUMAN	Homo sapiens BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) (BRF1), transcript variant 1, mRNA.	387					positive regulation of transcription, DNA-dependent|rRNA transcription|tRNA transcription|transcription initiation from RNA polymerase III promoter	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GGGGGCACCACCAAGGAGCTC	0.687000														9			6		0	0	0.001984	0	0
MXRA5	25878	broad.mit.edu	37	X	3240982	3240982	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:3240982G>A	uc004crg.4	-	4	2901	c.2744C>T	c.(2743-2745)tCt>tTt	p.S915F		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	915						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATAAGGCTCAGATATAAGTGT	0.493000														11			25		0	0	0.005443	0	0
OR4K1	79544	broad.mit.edu	37	14	20404458	20404458	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20404458C>T	uc001vwj.2	+	0	692	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGAGCTGTTTCCTGGCTTTAA	0.438000														88			8		0	0	0.003080	0	0
OR4X2	119764	broad.mit.edu	37	11	48267543	48267543	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:48267543G>A	uc001ngs.1	+	0	888	c.888G>A	c.(886-888)agG>agA	p.R296R		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTGGATTAGGACATTGAGAC	0.433000														49			16		0	0	0.007413	0	0
CD93	22918	broad.mit.edu	37	20	23064991	23064991	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:23064991C>T	uc002wsv.3	-	0	1987	c.1839G>A	c.(1837-1839)agG>agA	p.R613R		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	613					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCTTCTCCTCCCTCTTCGCTC	0.567000														102			31		0	0	0.002445	0	0
FCGBP	8857	broad.mit.edu	37	19	40396021	40396021	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:40396021G>A	uc002omp.4	-	14	7384	c.7376C>T	c.(7375-7377)cCc>cTc	p.P2459L		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2459	VWFD 6.					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)			GGTGTAGTGGGGATCTCCCGA	0.677000														56			5		0	0	0.000602	0	0
PRKDC	5591	broad.mit.edu	37	8	48790352	48790352	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:48790352G>A	uc003xqi.3	-	40	5350	c.5293C>T	c.(5293-5295)Ctt>Ttt	p.L1765F	PRKDC_uc003xqj.3_Missense_Mutation_p.L1765F	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	1766					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.V1765I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCCCGACAAAGAACTTCTGTC	0.388000								Non-homologous end-joining						72			24		0	0	0.003330	0	0
CSPG4	1464	broad.mit.edu	37	15	75977570	75977570	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:75977570G>A	uc002baw.3	-	3	4355	c.4262C>T	c.(4261-4263)tCc>tTc	p.S1421F		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	1421	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CATTCTCCAGGAGAAGGCGCT	0.662000														70			19		0	0	0.008871	0	0
HCFC1	3054	broad.mit.edu	37	X	153222475	153222475	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:153222475G>A	uc004fjp.3	-	13	2918	c.2390C>T	c.(2389-2391)aCc>aTc	p.T797I		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	797	Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTGATGATGGTGATGGGGGA	0.602000														30			58		0	0	0.003610	0	0
CSMD2	114784	broad.mit.edu	37	1	34189909	34189909	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:34189909G>A	uc001bxm.1	-	18	3066	c.2889C>T	c.(2887-2889)ctC>ctT	p.L963L	CSMD2_uc001bxn.1_Silent_p.L923L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	923	CUB 6.					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)				AGCCACCACAGAGAGCTACAG	0.562000														28			4		0	0	0.009096	0	0
FBXO30	84085	broad.mit.edu	37	6	146127418	146127418	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:146127418G>A	uc003qla.3	-	1	323	c.124C>T	c.(124-126)Cat>Tat	p.H42Y	LOC100507557_uc003qky.2_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	Homo sapiens F-box protein 30 (FBXO30), mRNA.	42							ubiquitin-protein ligase activity|zinc ion binding	p.H42L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TTACAAGAATGGAAAACTGCA	0.438000														49			22		0	0	0.010504	0	0
EPHA2	1969	broad.mit.edu	37	1	16461625	16461625	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:16461625G>A	uc001aya.2	-	6	1643	c.1488C>T	c.(1486-1488)gaC>gaT	p.D496D		NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	496	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTGGGGCCAGGTCGTCCAGGG	0.662000														140			83		0	0	0.003610	0	0
ZNF812	729648	broad.mit.edu	37	19	9801846	9801846	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9801846C>T	uc021uop.1	-	5	979	c.333G>A	c.(331-333)ggG>ggA	p.G111G	ZNF812_uc010xkx.2_Silent_p.G7G	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	111	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CAAAGATGTTCCCTCCATTCT	0.423000														40			6		0	0	0.001168	0	0
TM4SF19	116211	broad.mit.edu	37	3	196054333	196054333	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:196054333G>A	uc010iad.2	-	1	287	c.129C>T	c.(127-129)gtC>gtT	p.V43V	TM4SF19_uc003fwj.3_Non-coding_Transcript|TM4SF19_uc003fwl.2_Silent_p.V43V|TM4SF19_uc021xjs.1_Silent_p.V43V|TM4SF19_uc011btv.2_Silent_p.V43V	NM_001204897	NP_001191826	Q96DZ7	T4S19_HUMAN	Homo sapiens transmembrane 4 L six family member 19 (TM4SF19), transcript variant 2, mRNA.	43						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		ACAGGTAGGTGACATCCCAGT	0.617000														65			17		0	0	0.006122	0	0
MUC16	94025	broad.mit.edu	37	19	9083076	9083076	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9083076G>A	uc002mkp.3	-	0	8943	c.8739C>T	c.(8737-8739)tcC>tcT	p.S2913S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2914	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						TGGTGTTCAGGGACTGTCCAG	0.488000														48			7		0	0	0.003080	0	0
OR10J1	26476	broad.mit.edu	37	1	159409968	159409968	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:159409968C>T	uc010piv.2	+	0	457	c.420C>T	c.(418-420)ccC>ccT	p.P140P	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	140					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TCTGCAACCCCCTGAGATACA	0.488000														78			15		0	0	0.003163	0	0
IL18R1	8809	broad.mit.edu	37	2	102992417	102992417	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:102992417G>A	uc002tbw.4	+	4	669	c.519G>A	c.(517-519)aaG>aaA	p.K173K	IL18R1_uc010ywd.2_Silent_p.K18K|IL18R1_uc010fiy.3_Silent_p.K173K|IL18R1_uc010ywc.2_Silent_p.K173K	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	173	Ig-like C2-type 2.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CGATAAAGAAGAACGCCGAGT	0.313000														17			13		0	0	0.001368	0	0
SLC17A1	6568	broad.mit.edu	37	6	25799016	25799016	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:25799016G>A	uc003nfh.4	-	11	1517	c.1401C>T	c.(1399-1401)ctC>ctT	p.L467L	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Silent_p.L467L|SLC17A1_uc010jqc.1_Silent_p.L411L	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	467					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.R466H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						CTCACCTTCAGAGACGTGTGT	0.433000														49			24		0	0	0.003954	0	0
LOC441455	441455	broad.mit.edu	37	9	99488345	99488345	+	RNA	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:99488345G>A	uc011luo.1	+	0		c.243G>A								Homo sapiens makorin ring finger protein 1 pseudogene (LOC441455), non-coding RNA.																		ATTGAAACAGGAAGAAGCAGC	0.448000														19			4		0	0	0.009096	0	0
DIDO1	11083	broad.mit.edu	37	20	61511969	61511969	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:61511969G>A	uc002ydr.2	-	15	5651	c.5339C>T	c.(5338-5340)cCg>cTg	p.P1780L	DIDO1_uc002yds.2_Missense_Mutation_p.P1780L	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1780	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TTCTGGAAACGGAGGGGCTGG	0.627000														99			23		0	0	0.002780	0	0
UNC93B1	81622	broad.mit.edu	37	11	67765196	67765196	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:67765196G>A	uc001omw.1	-	6	935	c.855C>T	c.(853-855)ctC>ctT	p.L285L		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA.	285					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											CCACCACAATGAGGTTTCCGC	0.647000														29			8		0	0	0.003080	0	0
SALL1	6299	broad.mit.edu	37	16	51171035	51171035	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:51171035G>A	uc021tif.1	-	2	3994	c.3672C>T	c.(3670-3672)atC>atT	p.I1224I	SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Silent_p.I173I	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1321					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I1321I(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AACTCGTGACGATCTCCTTGC	0.592000														27			6		0	0	0.001168	0	0
C20orf11	54994	broad.mit.edu	37	20	61574861	61574861	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:61574861C>T	uc002ydy.3	+	3	507	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_017896	NP_060366	Q9NWU2	CT011_HUMAN	Homo sapiens chromosome 20 open reading frame 11 (C20orf11), mRNA.	110	CTLH.					nucleus	protein binding			endometrium(1)|kidney(1)|lung(3)|skin(1)|urinary_tract(1)	7	Breast(26;5.68e-08)					AGCATTTGATCGAGCTGATCC	0.607000														24			13		0	0	0.002450	0	0
OTOGL	283310	broad.mit.edu	37	12	80714438	80714438	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:80714438G>A	uc001szd.3	+	32	4018	c.4012G>A	c.(4012-4014)Gat>Aat	p.D1338N		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AAAATATGATGATTCTGAAGA	0.348000														5			8		0	0	0.004482	0	0
CACNG1	786	broad.mit.edu	37	17	65050168	65050168	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:65050168G>A	uc002jfu.3	+	1	411	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K		NM_000727	NP_000718	Q06432	CCG1_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 1 (CACNG1), mRNA.	96					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	GGAGATCTTCGAATTCACCAC	0.542000														25			50		0	0	0.003610	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724495	38724495	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:38724495G>A	uc001wum.1	-	0	1080	c.733C>T	c.(733-735)Ccc>Tcc	p.P245S		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	245	EGF-like.					integral to membrane	sugar binding	p.C244C(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCGGGGCAGGGACACAACACA	0.617000														160			28		0	0	0.002836	0	0
DDX43	55510	broad.mit.edu	37	6	74117797	74117797	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:74117797C>T	uc003pgw.3	+	8	1496	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	384	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TGAGTAACTTCGTCAATCTGA	0.408000														25			18		0	0	0.008871	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40630587	40630587	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:40630587C>T	uc002hzs.3	+	6	801	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S	ATP6V0A1_uc002hzr.3_Missense_Mutation_p.P205S|ATP6V0A1_uc002hzq.3_Missense_Mutation_p.P205S|ATP6V0A1_uc010wgj.2_Missense_Mutation_p.P162S|ATP6V0A1_uc010wgk.2_Missense_Mutation_p.P162S|ATP6V0A1_uc010cyg.3_Intron|ATP6V0A1_uc010wgl.2_Missense_Mutation_p.P64S	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	205					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		AATCGAGAACCCCCTGGAGGA	0.552000														20			16		0	0	0.006122	0	0
LAMA1	284217	broad.mit.edu	37	18	6997746	6997746	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:6997746G>A	uc002knm.3	-	32	4895	c.4801C>T	c.(4801-4803)Ctc>Ttc	p.L1601F	LAMA1_uc010wzj.2_Missense_Mutation_p.L1077F	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1601	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.L1601L(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTACCTGGAGATATTTAGTT	0.428000														46			10		0	0	0.000978	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48818932	48818932	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:48818932G>A	uc002rwp.2	+	2	2185	c.2071G>A	c.(2071-2073)Gga>Aga	p.G691R	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.G691R|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.G691R|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.G691R|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.G691R	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	691					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAGGTCTCTGGGAGTGGAGAG	0.488000														25			31		0	0	0.008361	0	0
BAI3	577	broad.mit.edu	37	6	70064192	70064192	+	Missense_Mutation	SNP	C	T	T	rs142863825		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:70064192C>T	uc010kak.3	+	25	3803	c.3527C>T	c.(3526-3528)tCg>tTg	p.S1176L	BAI3_uc003pev.4_Missense_Mutation_p.S1176L|BAI3_uc011dxx.2_Missense_Mutation_p.S382L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1176	Poly-Ser.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCTTCGAGTTCGTTTCCTAAT	0.393000														82			23		0	0	0.004656	0	0
MYO5B	4645	broad.mit.edu	37	18	47432877	47432877	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:47432877G>A	uc002leb.2	-	18	2614	c.2326C>T	c.(2326-2328)Cgg>Tgg	p.R776W		NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	776	IQ 1.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.R776W(2)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGCCATCCCCGGACAGTTTTC	0.592000														40			9		0	0	0.000978	0	0
LRRC66	339977	broad.mit.edu	37	4	52861173	52861173	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:52861173C>T	uc003gzi.3	-	3	2022	c.2015G>A	c.(2014-2016)aGa>aAa	p.R672K		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	672						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ACTGTCCCATCTTGGAGGAAA	0.552000														16			24		0	0	0.004656	0	0
XAGE5	170627	broad.mit.edu	37	X	52842166	52842166	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:52842166G>A	uc004drd.1	+	2	140	c.75G>A	c.(73-75)gaG>gaA	p.E25E		NM_130775	NP_570131	Q8WWM1	GAGD5_HUMAN	Homo sapiens X antigen family, member 5 (XAGE5), mRNA.	25										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						TGTCCCAGGAGCCCAGTGTGC	0.448000														3			18		0	0	0.006122	0	0
GSTA5	221357	broad.mit.edu	37	6	52699038	52699038	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:52699038C>T	uc003pba.1	-	4	385	c.315G>A	c.(313-315)atG>atA	p.M105I		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	Homo sapiens glutathione S-transferase alpha 5 (GSTA5), mRNA.	105	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	GAAGAAGGATCATTTCAGTCA	0.368000														68			36		0	0	0.003271	0	0
SNTG1	54212	broad.mit.edu	37	8	51569490	51569490	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:51569490G>A	uc010lxy.1	+	14	1242	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	SNTG1_uc003xqs.1_Missense_Mutation_p.E291K|SNTG1_uc010lxz.1_Missense_Mutation_p.E291K|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	291	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GGGCTGGTGTGAAGCCCGGGA	0.453000														71			13		0	0	0.004990	0	0
MYH2	4620	broad.mit.edu	37	17	10432367	10432367	+	Silent	SNP	G	A	A	rs139130605		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10432367G>A	uc010coi.3	-	26	3512	c.3384C>T	c.(3382-3384)atC>atT	p.I1128I	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.I1128I|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.	1128					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						GCTCTGCCTCGATTTCCTCCT	0.582000														11			22		0	0	0.003330	0	0
MNDA	4332	broad.mit.edu	37	1	158811981	158811981	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158811981G>A	uc001fsz.1	+	1	238	c.38G>A	c.(37-39)gGa>gAa	p.G13E		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	13	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TTGCTGAAAGGATTTGAGCTC	0.318000														29			12		0	0	0.000978	0	0
LRP5	4041	broad.mit.edu	37	11	68207320	68207320	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:68207320G>A	uc001ont.3	+	20	4499	c.4424G>A	c.(4423-4425)cGg>cAg	p.R1475Q	LRP5_uc009ysg.3_Missense_Mutation_p.R885Q	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1475					Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTCTACGACCGGAACCACGTC	0.721000														22			8		0	0	0.008291	0	0
ROBO2	6092	broad.mit.edu	37	3	77612365	77612366	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:77612365_77612366GG>AA	uc011bgk.2	+	11	2222_2223	c.1579_1580GG>AA	c.(1579-1581)ggg>AAg	p.G527K	ROBO2_uc021xat.1_Missense_Mutation_p.G539K|ROBO2_uc003dpy.4_Missense_Mutation_p.G523K|ROBO2_uc003dpz.3_Missense_Mutation_p.G527K|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.	523	Fibronectin type-III 1.				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)		TGACCTGCCAGGGCCACCATCC	0.450000														31			12		0	0	0.004672	0	0
RFX3	5991	broad.mit.edu	37	9	3225181	3225181	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:3225181G>A	uc003zhr.3	-	17	2423	c.2111C>T	c.(2110-2112)cCa>cTa	p.P704L	RFX3_uc010mhd.3_Missense_Mutation_p.P704L	NM_134428	NP_602304	P48380	RFX3_HUMAN	Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA.	704					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GCAGCCCACTGGAAATGCCTG	0.488000														15			11		0	0	0.000978	0	0
OR8B2	26595	broad.mit.edu	37	11	124252580	124252580	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:124252580G>A	uc010sai.2	-	0	660	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAGTGACAATGAAAACATAAG	0.413000														81			7		0	0	0.006214	0	0
NEBL	10529	broad.mit.edu	37	10	21178817	21178817	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:21178817G>A	uc001iqi.3	-	2	612	c.215C>T	c.(214-216)cCt>cTt	p.P72L	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	72					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GTTTAGCATAGGACTGTCAGT	0.303000														32			11		0	0	0.001855	0	0
BEND2	139105	broad.mit.edu	37	X	18221903	18221903	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:18221903G>A	uc004cyj.4	-	4	779	c.625C>T	c.(625-627)Ccc>Tcc	p.P209S	BEND2_uc010nfb.2_Missense_Mutation_p.P209S	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	209								p.E204fs*66(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ACAATTCTGGGATATGATAAA	0.488000														33			51		0	0	0.003610	0	0
C12orf63	374467	broad.mit.edu	37	12	97137206	97137206	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:97137206C>T	uc021rcc.1	+	19	2599	c.2521C>T	c.(2521-2523)Ctc>Ttc	p.L841F				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	841										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTGCCTGAGCCTCATCAATGA	0.408000														13			15		0	0	0.004007	0	0
IL1RL1	9173	broad.mit.edu	37	2	102957179	102957179	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:102957179C>T	uc002tbu.1	+	4	772	c.501C>T	c.(499-501)gtC>gtT	p.V167V	IL1RL1_uc010ywa.2_Silent_p.V50V|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Silent_p.V167V	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	167	Ig-like C2-type 2.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CATTTTTGGTCATTGATAATG	0.393000														60			19		0	0	0.008871	0	0
NGF	4803	broad.mit.edu	37	1	115828826	115828826	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:115828826C>T	uc021osd.1	-	0	591	c.591G>A	c.(589-591)tgG>tgA	p.W197*	NGF_uc001efu.1_Nonsense_Mutation_p.W197*	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	197					Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	Golgi lumen|endosome	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	AATATGAGTTCCAGTGCTTTG	0.512000														52			17		0	0	0.006122	0	0
RBL2	5934	broad.mit.edu	37	16	53476717	53476717	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:53476717C>T	uc002ehi.4	+	2	637	c.519C>T	c.(517-519)atC>atT	p.I173I	RBL2_uc010vgv.1_Silent_p.I99I	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	173					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTCAGGACATCTTTAAATACC	0.413000														127			65		0	0	0.003610	0	0
C16orf78	123970	broad.mit.edu	37	16	49430414	49430414	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:49430414C>T	uc002efr.3	+	3	518	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	159										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						TGTCTTAGATCCCATGTTACA	0.493000														42			22		0	0	0.001882	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138763369	138763369	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:138763369G>A	uc003vun.3	-	4	1890	c.1502C>T	c.(1501-1503)tCt>tTt	p.S501F	ZC3HAV1_uc003vuo.3_5'UTR|ZC3HAV1_uc003vup.3_Missense_Mutation_p.S501F	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	501					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CACCCTAGAAGATGTGGTACT	0.383000														33			22		0	0	0.004656	0	0
EPHA7	2045	broad.mit.edu	37	6	93979305	93979305	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:93979305C>T	uc003poe.3	-	6	1764	c.1523G>A	c.(1522-1524)gGa>gAa	p.G508E	EPHA7_uc003pof.3_Missense_Mutation_p.G508E|EPHA7_uc011eac.2_Missense_Mutation_p.G508E	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	508	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATACACTGTTCCTGGTTTCAG	0.393000														44			24		0	0	0.003330	0	0
SIX2	10736	broad.mit.edu	37	2	45235712	45235713	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:45235712_45235713GG>AA	uc002ruo.3	-	0	830_831	c.537_538CC>TT	c.(535-540)gaccgg>gaTTgg	p.R180W		NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	Homo sapiens SIX homeobox 2 (SIX2), mRNA.	180						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCGGCCGCCCGGTCGCGCTGCC	0.683000														55			27		0	0	0.004672	0	0
EPHB2	2048	broad.mit.edu	37	1	23191429	23191429	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:23191429G>A	uc009vqj.1	+	4	1172	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	EPHB2_uc001bge.3_Missense_Mutation_p.E343K|EPHB2_uc001bgf.3_Missense_Mutation_p.E343K|EPHB2_uc010odu.2_Missense_Mutation_p.E343K|MIR4253_uc021oic.1_5'Flank	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	343	Fibronectin type-III 1.				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)		CCTCATGCTGGAGTGGACCCC	0.677000														92			38		0	0	0.009718	0	0
APOB	338	broad.mit.edu	37	2	21233505	21233505	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:21233505C>T	uc002red.3	-	25	6363	c.6235G>A	c.(6235-6237)Gaa>Aaa	p.E2079K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2079	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCAAAATATTCTTGCAAGGTC	0.343000														342			106		0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13721267	13721267	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:13721267G>A	uc003jfd.2	-	70	12163	c.12121C>T	c.(12121-12123)Cca>Tca	p.P4041S	DNAH5_uc003jfc.2_Missense_Mutation_p.P209S	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4041	AAA 6 (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)					GGCGTCCGTGGATCAGATTCC	0.483000									Kartagener syndrome					70			18		0	0	0.007413	0	0
XYLT1	64131	broad.mit.edu	37	16	17232272	17232272	+	Silent	SNP	G	A	A	rs139802880	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:17232272G>A	uc002dfa.3	-	7	1789	c.1704C>T	c.(1702-1704)atC>atT	p.I568I		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	568					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACCAGTCCACGATGTGCTTGT	0.582000														38			7		0	0	0.006214	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555043	44555043	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:44555043C>T	uc010xdb.2	-	0	1407	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	391	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.D390G(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CTCCATAATTCATCTGTCTCT	0.572000														682			13		0	0	0.003163	0	0
OR8G1	26494	broad.mit.edu	37	11	124120530	124120530	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:124120530G>A	uc001pzx.3	+	0	108	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_001002905	NP_001002905	Q15617	OR8G1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 1 (OR8G1), mRNA.	36					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)		GAATCTATGTGGTCACAGTGG	0.507000														65			6		0	0	0.001168	0	0
CYP4A22	284541	broad.mit.edu	37	1	47603166	47603166	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:47603166C>T	uc001cqv.1	+	0	60	c.9C>T	c.(7-9)gtC>gtT	p.V3V	CYP4A22_uc009vyo.3_Silent_p.V3V|CYP4A22_uc009vyp.3_Silent_p.V3V	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	3						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						CCATGAGTGTCTCTGTCCTGA	0.602000														66			26		0	0	0.005443	0	0
TWISTNB	221830	broad.mit.edu	37	7	19739834	19739834	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:19739834G>A	uc003sup.1	-	2	487	c.466C>T	c.(466-468)Cct>Tct	p.P156S		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	Homo sapiens TWIST neighbor (TWISTNB), mRNA.	156						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						TCAGGTTTAGGAATGGAGGCA	0.423000														64			11		0	0	0.000978	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711578	155711578	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:155711578G>A	uc002tyv.1	+	2	1454	c.1259G>A	c.(1258-1260)aGt>aAt	p.S420N	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	420					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TTGAGGATGAGTTCTACAACT	0.393000														58			36		0	0	0.004878	0	0
MLL3	58508	broad.mit.edu	37	7	151927079	151927079	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:151927079C>T	uc003wla.3	-	17	3124	c.2905G>A	c.(2905-2907)Gga>Aga	p.G969R	MLL3_uc003wkz.3_Missense_Mutation_p.G30R	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	969					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CCTTCTGCTCCTTGGCCAAAA	0.348000			N		medulloblastoma									271			9		0	0	0.002299	0	0
HEATR4	399671	broad.mit.edu	37	14	73976137	73976137	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:73976137G>A	uc021rwe.1	-	7	1947	c.1599C>T	c.(1597-1599)gcC>gcT	p.A533A	HEATR4_uc021rwf.1_Silent_p.A486A|HEATR4_uc010tub.1_Silent_p.A533A	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.									p.W533C(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CAGCCTCTAGGGCAGGCAGTA	0.507000														60			12		0	0	0.003163	0	0
PEX5L	51555	broad.mit.edu	37	3	179597774	179597774	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:179597774C>T	uc003fki.1	-	4	578	c.448G>A	c.(448-450)Gat>Aat	p.D150N	PEX5L_uc011bqd.1_Missense_Mutation_p.D107N|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_Intron|PEX5L_uc003fkj.1_Missense_Mutation_p.D115N|PEX5L_uc010hxd.1_Missense_Mutation_p.D148N|PEX5L_uc011bqg.1_Missense_Mutation_p.D126N|PEX5L_uc011bqh.1_Missense_Mutation_p.D91N	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	150					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGCTCAGCATCCGTGCTGATG	0.517000														35			29		0	0	0.002096	0	0
KIF21B	23046	broad.mit.edu	37	1	200943941	200943941	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:200943941C>T	uc001gvs.2	-	33	5032	c.4715G>A	c.(4714-4716)tGg>tAg	p.W1572*	KIF21B_uc009wzl.2_Nonsense_Mutation_p.W1572*|KIF21B_uc001gvr.2_Nonsense_Mutation_p.W1559*|KIF21B_uc010ppn.2_Nonsense_Mutation_p.W1559*	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1572					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GTCCACGTTCCAGACCTTGAT	0.602000														96			44		0	0	0.003610	0	0
FBLN1	2192	broad.mit.edu	37	22	45923772	45923772	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:45923772G>A	uc010gzz.3	+	4	628	c.481G>A	c.(481-483)Ggc>Agc	p.G161S	FBLN1_uc003bgg.1_Missense_Mutation_p.G123S|FBLN1_uc003bgh.3_Missense_Mutation_p.G123S|FBLN1_uc003bgi.1_Missense_Mutation_p.G123S|FBLN1_uc003bgj.1_Missense_Mutation_p.G123S	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	123					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCAGGCCCAGGGCCAGAGCTG	0.632000														64			15		0	0	0.004007	0	0
PCLO	27445	broad.mit.edu	37	7	82544610	82544610	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82544610G>A	uc003uhx.2	-	6	12981	c.12692C>T	c.(12691-12693)tCc>tTc	p.S4231F	PCLO_uc003uhv.2_Missense_Mutation_p.S4231F|PCLO_uc010lec.3_Missense_Mutation_p.S1196F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4162	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S4231F(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCCCTGGAGGAAATGCCACC	0.388000														27			10		0	0	0.001368	0	0
KIF14	9928	broad.mit.edu	37	1	200562861	200562861	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:200562861G>A	uc010ppk.1	-	14	3025	c.2586C>T	c.(2584-2586)atC>atT	p.I862I	KIF14_uc010ppj.1_Silent_p.I371I	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	862	FHA.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CCCCAACTGGGATAATACTCA	0.318000														83			26		0	0	0.002096	0	0
DDX60	55601	broad.mit.edu	37	4	169138161	169138161	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:169138161C>T	uc003irp.3	-	37	5354	c.5062G>A	c.(5062-5064)Gaa>Aaa	p.E1688K	DDX60_uc003iro.3_3'UTR	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1688							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TCTTCATTTTCACATAGCTCA	0.363000														21			18		0	0	0.010504	0	0
SAMD9	54809	broad.mit.edu	37	7	92731309	92731309	+	Missense_Mutation	SNP	C	T	T	rs138600971	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:92731309C>T	uc003umf.3	-	2	4372	c.4102G>A	c.(4102-4104)Gaa>Aaa	p.E1368K	SAMD9_uc003umg.3_Missense_Mutation_p.E1368K|SAMD9_uc022ahg.1_Missense_Mutation_p.E1368K	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1368						cytoplasm		p.E1368K(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAAGTATATTCGTTCACTATA	0.348000														63			28		0	0	0.006320	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997481	19997481	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:19997481C>T	uc002ktv.1	-	0	398	c.294G>A	c.(292-294)gaG>gaA	p.E98E		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	98						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CGCAGGTTGCCTCCAAACTTT	0.373000														148			33		0	0	0.003755	0	0
MYO1A	4640	broad.mit.edu	37	12	57431726	57431726	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:57431726C>T	uc001smw.4	-	17	2128	c.1888G>A	c.(1888-1890)Ggt>Agt	p.G630S	MYO1A_uc010sqz.2_Missense_Mutation_p.G468S|MYO1A_uc009zpd.3_Missense_Mutation_p.G630S	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	630	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGCCCATAACCCTGGCGGTGG	0.632000														15			23		0	0	0.002780	0	0
KANK2	25959	broad.mit.edu	37	19	11303680	11303680	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:11303680G>A	uc002mqm.3	-	1	1155	c.1076C>T	c.(1075-1077)cCt>cTt	p.P359L	KANK2_uc021upe.1_Missense_Mutation_p.P359L|KANK2_uc002mqo.4_Missense_Mutation_p.P359L|KANK2_uc002mqp.1_Missense_Mutation_p.P168L|KANK2_uc002mqq.3_Missense_Mutation_p.P359L	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	359										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGTGCCGTAAGGCTCCAGGCT	0.692000														27			14		0	0	0.003163	0	0
ATP2A1	487	broad.mit.edu	37	16	28914725	28914725	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:28914725G>A	uc002dro.1	+	20	3128	c.2944G>A	c.(2944-2946)Gaa>Aaa	p.E982K	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.E982K|ATP2A1_uc002drp.1_Missense_Mutation_p.E857K	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	982					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	p.D981D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TGGGCTCGACGAAATCCTCAA	0.612000														53			14		0	0	0.004007	0	0
ENTPD2	954	broad.mit.edu	37	9	139945719	139945719	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:139945719C>T	uc004ckw.2	-	3	544	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	ENTPD2_uc004ckv.2_5'Flank|ENTPD2_uc022bqb.1_5'Flank|ENTPD2_uc004ckx.2_Missense_Mutation_p.E164K	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 2 (ENTPD2), transcript variant 1, mRNA.	164						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACCCCCTCTTCCTGGCCCGAG	0.627000														64			18		0	0	0.002299	0	0
OR10V1	390201	broad.mit.edu	37	11	59481007	59481007	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:59481007G>A	uc001nof.1	-	0	312	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily V, member 1 (OR10V1), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						AGAAGACAAAGAAAAACATCT	0.483000														25			12		0	0	0.001368	0	0
CHD5	26038	broad.mit.edu	37	1	6191793	6191793	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:6191793C>T	uc001amb.2	-	20	3271	c.3160G>A	c.(3160-3162)Gac>Aac	p.D1054N	CHD5_uc001alz.2_5'UTR|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1054	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCCAGGAGGTCCAGCATCTTG	0.632000														38			20		0	0	0.002299	0	0
SQRDL	58472	broad.mit.edu	37	15	45968449	45968449	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:45968449G>A	uc001zvu.3	+	6	998	c.805G>A	c.(805-807)Gat>Aat	p.D269N	SQRDL_uc001zvv.3_Missense_Mutation_p.D269N	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	Homo sapiens sulfide quinone reductase-like (yeast) (SQRDL), nuclear gene encoding mitochondrial protein, mRNA.	269							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		AGTCCGAGCCGATAAACAAGA	0.478000														63			30		0	0	0.003271	0	0
EYA4	2070	broad.mit.edu	37	6	133789771	133789771	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:133789771G>A	uc011ecs.2	+	10	1188	c.872G>A	c.(871-873)gGa>gAa	p.G291E	EYA4_uc011ecq.2_Missense_Mutation_p.G237E|EYA4_uc011ecr.2_Missense_Mutation_p.G237E|EYA4_uc003qec.4_Missense_Mutation_p.G291E|EYA4_uc003qed.4_Missense_Mutation_p.G291E|EYA4_uc003qee.4_Missense_Mutation_p.G268E|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	291					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TCAACGTATGGAGCGTATATG	0.428000														73			20		0	0	0.008871	0	0
OR2L8	391190	broad.mit.edu	37	1	248112537	248112537	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248112537C>T	uc001idt.1	+	0	378	c.378C>T	c.(376-378)tgC>tgT	p.C126C	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTGCTATTTGCTTTCCTCTCC	0.458000														139			47		0	0	0.003610	0	0
IMPG1	3617	broad.mit.edu	37	6	76751661	76751661	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:76751661C>T	uc003pik.1	-	1	380	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	84					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTCATGGATTCCTGTGGACAG	0.383000														45			15		0	0	0.008871	0	0
CDK20	23552	broad.mit.edu	37	9	90584230	90584230	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:90584230G>A	uc004apr.3	-	6	1056	c.722C>T	c.(721-723)tCc>tTc	p.S241F	CDK20_uc004aps.3_Missense_Mutation_p.S220F|CDK20_uc022bjj.1_Missense_Mutation_p.S220F|CDK20_uc004apt.3_Missense_Mutation_p.S233F|CDK20_uc004apu.3_Missense_Mutation_p.P179S	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	Homo sapiens cyclin-dependent kinase 20 (CDK20), transcript variant 3, mRNA.	241	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						CTCCTTAAAGGAGATCTTGTT	0.577000														74			19		0	0	0.001882	0	0
CLCN6	1185	broad.mit.edu	37	1	11894319	11894319	+	Missense_Mutation	SNP	C	T	T	rs149710478		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:11894319C>T	uc001ate.4	+	15	1666	c.1553C>T	c.(1552-1554)tCg>tTg	p.S518L	CLCN6_uc010oat.2_Missense_Mutation_p.S234L|CLCN6_uc010oau.2_Missense_Mutation_p.S496L	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	518					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CACATCTATTCGGGGACCTTT	0.542000														31			14		0	0	0.003163	0	0
KLF17	128209	broad.mit.edu	37	1	44595255	44595255	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:44595255G>A	uc001clp.3	+	1	370	c.312G>A	c.(310-312)gcG>gcA	p.A104A	KLF17_uc009vxf.1_Silent_p.A67A	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	104					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GCCCCCAAGCGACTCTCACTC	0.557000														73			52		0	0	0.003610	0	0
VPS13D	55187	broad.mit.edu	37	1	12328876	12328876	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:12328876C>T	uc001atv.3	+	15	2056	c.1915C>T	c.(1915-1917)Ccg>Tcg	p.P639S	VPS13D_uc001atw.3_Missense_Mutation_p.P639S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	639					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CATATACAATCCGCAGGCCAT	0.423000														86			41		0	0	0.007835	0	0
EPHA4	2043	broad.mit.edu	37	2	222301175	222301175	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:222301175C>T	uc002vmq.3	-	12	2332	c.2290G>A	c.(2290-2292)Gat>Aat	p.D764N	EPHA4_uc002vmr.2_Missense_Mutation_p.D764N|EPHA4_uc010zlm.1_Missense_Mutation_p.D705N	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	764	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ATGCCAAAATCAGACACTTTG	0.493000														34			11		0	0	0.000978	0	0
CEP350	9857	broad.mit.edu	37	1	180065016	180065016	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:180065016C>T	uc001gnt.3	+	34	9253	c.8870C>T	c.(8869-8871)gCc>gTc	p.A2957V	CEP350_uc009wxl.2_Missense_Mutation_p.A2956V|CEP350_uc001gnv.3_Missense_Mutation_p.A1092V|CEP350_uc001gnw.1_Missense_Mutation_p.A714V|CEP350_uc001gnx.1_Missense_Mutation_p.A714V	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2957						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTTGGCTGTGCCAGTAAAGGT	0.363000														24			6		0	0	0.001168	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643740	37643740	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:37643740G>A	uc002ofo.1	-	4	1292	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F	ZNF585A_uc002ofm.1_Missense_Mutation_p.S299F|ZNF585A_uc002ofn.1_Missense_Mutation_p.S299F	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.S354L(2)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTACATATGGAAGATTTCTC	0.398000														62			39		0	0	0.008740	0	0
COL7A1	1294	broad.mit.edu	37	3	48621767	48621767	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:48621767G>A	uc003ctz.2	-	35	4162	c.4161C>T	c.(4159-4161)ccC>ccT	p.P1387P		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1387	Interrupted collagenous region.|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)		GGGGGCCACGGGGTCCTGGGT	0.617000														11			6		0	0	0.001984	0	0
SLC4A8	9498	broad.mit.edu	37	12	51868847	51868847	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:51868847G>A	uc001rys.1	+	15	2207	c.2029G>A	c.(2029-2031)Gga>Aga	p.G677R	SLC4A8_uc001rym.3_Missense_Mutation_p.G624R|SLC4A8_uc001ryn.3_Missense_Mutation_p.G624R|SLC4A8_uc001ryo.2_Missense_Mutation_p.G624R|SLC4A8_uc010snj.2_Missense_Mutation_p.G704R|SLC4A8_uc001ryr.3_Missense_Mutation_p.G677R|SLC4A8_uc010snk.2_Missense_Mutation_p.G624R	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	677					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GGAGATGCATGGAGAGTTCAT	0.478000														18			17		0	0	0.006122	0	0
ABCA13	154664	broad.mit.edu	37	7	48273745	48273745	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:48273745G>A	uc003toq.2	+	7	918	c.894G>A	c.(892-894)aaG>aaA	p.K298K	ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	298					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGAACTGAAGGAGGTACACA	0.527000														50			49		0	0	0.003610	0	0
EBF2	64641	broad.mit.edu	37	8	25747281	25747281	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:25747281G>A	uc003xes.2	-	7	1003	c.738C>T	c.(736-738)ctC>ctT	p.L246L	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_5'Flank	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	246					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)		CCGATGGATCGAGTCTTCTTG	0.463000														33			17		0	0	0.001882	0	0
C8B	732	broad.mit.edu	37	1	57399055	57399055	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:57399055G>A	uc001cyp.3	-	9	1572	c.1505C>T	c.(1504-1506)tCc>tTc	p.S502F	C8B_uc010oon.2_Missense_Mutation_p.S440F|C8B_uc010ooo.2_Missense_Mutation_p.S450F	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	502	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.S502F(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACAGTGGCAGGAACTAACTTC	0.522000														56			28		0	0	0.009535	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161019038	161019038	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:161019038C>T	uc001fxl.3	-	11	2119	c.1773G>A	c.(1771-1773)ctG>ctA	p.L591L	ARHGAP30_uc001fxk.3_Silent_p.L591L|ARHGAP30_uc001fxm.3_Silent_p.L437L|ARHGAP30_uc009wtx.3_Silent_p.L264L|ARHGAP30_uc001fxn.1_Silent_p.L437L	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	591			L -> V (in dbSNP:rs3813609).		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)			CAGCGGAGTCCAGGGAACAGC	0.577000														73			46		0	0	0.003610	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756661	56756661	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56756661G>A	uc010rjp.2	+	0	273	c.273G>A	c.(271-273)ttG>ttA	p.L91L		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						AAAAGAATTTGATGTTATTTC	0.383000														44			12		0	0	0.001368	0	0
ODZ4	26011	broad.mit.edu	37	11	78380134	78380134	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:78380134C>T	uc001ozl.4	-	31	7719	c.7256G>A	c.(7255-7257)cGa>cAa	p.R2419Q	ODZ4_uc001ozk.4_Missense_Mutation_p.R644Q	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2419					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						ATCATAATCTCGCCGGCCCAT	0.517000														15			4		0	0	0.009096	0	0
COG6	57511	broad.mit.edu	37	13	40301618	40301618	+	Missense_Mutation	SNP	C	T	T	rs144843064	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:40301618C>T	uc001uxh.2	+	17	1859	c.1759C>T	c.(1759-1761)Cgt>Tgt	p.R587C	COG6_uc001uxi.2_Missense_Mutation_p.R535C|COG6_uc010acb.2_Missense_Mutation_p.R587C	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	Homo sapiens component of oligomeric golgi complex 6 (COG6), transcript variant 1, mRNA.	587					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TCAGTTTGATCGTTATCTGTC	0.328000														80			8		0	0	0.003080	0	0
HTR1D	3352	broad.mit.edu	37	1	23520476	23520476	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:23520476G>A	uc001bgn.3	-	0	747	c.237C>T	c.(235-237)tcC>tcT	p.S79S		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	79					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGGTGGCCAGGGAGCCAATCA	0.537000														123			52		0	0	0.003610	0	0
HECW1	23072	broad.mit.edu	37	7	43484268	43484268	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:43484268G>A	uc003tid.1	+	10	2102	c.1497G>A	c.(1495-1497)agG>agA	p.R499R	HECW1_uc011kbi.1_Silent_p.R499R	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	499	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGGCTGGAAGggaagaagagg	0.622000														6			3		0	0	0.004672	0	0
PDE8B	8622	broad.mit.edu	37	5	76714114	76714114	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:76714114G>A	uc003kfa.3	+	17	2017	c.1972G>A	c.(1972-1974)Gat>Aat	p.D658N	PDE8B_uc003kfd.3_Missense_Mutation_p.D611N|PDE8B_uc003kfe.3_Missense_Mutation_p.D561N|PDE8B_uc003kfb.3_Missense_Mutation_p.D638N|PDE8B_uc003kfc.3_Missense_Mutation_p.D603N	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	658	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CCATGACGTGGATCACCCGGG	0.562000														261			61		0	0	0.003610	0	0
FAM46C	54855	broad.mit.edu	37	1	118166142	118166142	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:118166142G>A	uc021osq.1	+	0	652	c.652G>A	c.(652-654)Gac>Aac	p.D218N	FAM46C_uc001ehe.3_Missense_Mutation_p.D218N	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	218								p.G217W(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CATGTACGGGGACTTTGAGGA	0.488000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)				130			23		0	0	0.007291	0	0
ZNF439	90594	broad.mit.edu	37	19	11978815	11978815	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:11978815C>T	uc002mss.3	+	2	1059	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C	ZNF439_uc002msr.3_Missense_Mutation_p.R175C	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	Homo sapiens zinc finger protein 439 (ZNF439), mRNA.	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CATGTGTCCCCGTTATGTTCG	0.413000														40			29		0	0	0.007291	0	0
CLIP2	7461	broad.mit.edu	37	7	73770739	73770739	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:73770739G>A	uc003uam.3	+	5	1131	c.804_splice	c.e5-1	p.R268_splice	CLIP2_uc003uan.3_Splice_Site_p.R268_splice	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	268	CAP-Gly 2.					microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGCTTCCACAGGTACTTCCAG	0.587000														78			30		0	0	0.007291	0	0
AGTR1	185	broad.mit.edu	37	3	148459740	148459740	+	Silent	SNP	G	A	A	rs1064535		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:148459740G>A	uc003ewg.3	+	3	1364	c.918G>A	c.(916-918)ggG>ggA	p.G306G	AGTR1_uc003ewh.3_Silent_p.G306G|AGTR1_uc003ewi.3_Silent_p.G306G|AGTR1_uc003ewj.3_Silent_p.G306G|AGTR1_uc003ewk.3_Silent_p.G306G|AGTR1_uc021xfj.1_Silent_p.G306G	NM_031850	NP_114438	P30556	AGTR1_HUMAN	Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA.	306					Rho protein signal transduction|calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of NAD(P)H oxidase activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	p.L305L(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GCTTTCTGGGGAAAAAATTTA	0.368000														16			24		0	0	0.002299	0	0
TRANK1	9881	broad.mit.edu	37	3	36880169	36880169	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:36880169C>T	uc003cgj.3	-	17	5435	c.5187G>A	c.(5185-5187)gaG>gaA	p.E1729E		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1729					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACTTCTCCTTCTCAAATGCAC	0.483000														19			7		0	0	0.006214	0	0
ASTN2	23245	broad.mit.edu	37	9	119976741	119976741	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:119976741C>T	uc004bjt.2	-	2	1012	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	ASTN2_uc022bml.1_5'UTR|ASTN2_uc022bmm.1_5'UTR	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	304						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ATGGTTGGCCCGCCTAGGTGG	0.592000														50			11		0	0	0.008291	0	0
FCAR	2204	broad.mit.edu	37	19	55401169	55401169	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55401169G>A	uc002qhr.1	+	4	1001	c.804G>A	c.(802-804)tgG>tgA	p.W268*	FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_Nonsense_Mutation_p.W219*|FCAR_uc010esi.1_Nonsense_Mutation_p.W145*|FCAR_uc002qhu.1_Nonsense_Mutation_p.W172*|FCAR_uc002qhv.1_Nonsense_Mutation_p.W246*|FCAR_uc002qhw.1_Nonsense_Mutation_p.W256*|FCAR_uc002qhx.1_Nonsense_Mutation_p.W160*|FCAR_uc002qhy.1_Nonsense_Mutation_p.W234*|FCAR_uc002qhz.1_3'UTR|FCAR_uc002qia.1_Nonsense_Mutation_p.W159*	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	268					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		AACCGAGCTGGAGCCAACAGA	0.547000														106			55		0	0	0.003610	0	0
GRXCR2	643226	broad.mit.edu	37	5	145252310	145252310	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:145252310C>T	uc003lns.1	-	0	222	c.222G>A	c.(220-222)caG>caA	p.Q74Q		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	74										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GGGAGCACATCTGGGGCCTGG	0.512000														32			10		0	0	0.006214	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306175	2306175	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:2306175G>A	uc003gex.2	-	7	2212	c.1892C>T	c.(1891-1893)tCc>tTc	p.S631F	ZFYVE28_uc011bvk.2_Missense_Mutation_p.S561F|ZFYVE28_uc011bvl.2_Missense_Mutation_p.S601F|ZFYVE28_uc003gew.2_Missense_Mutation_p.S517F	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	631					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GCACTTGTCGGAAGTGGGGGC	0.662000														29			27		0	0	0.005443	0	0
COL21A1	81578	broad.mit.edu	37	6	55929417	55929417	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:55929417G>A	uc003pcs.3	-	23	2363	c.2131C>T	c.(2131-2133)Caa>Taa	p.Q711*	COL21A1_uc010jzz.3_Nonsense_Mutation_p.Q96*|COL21A1_uc011dxg.2_Nonsense_Mutation_p.Q84*|COL21A1_uc011dxh.2_Nonsense_Mutation_p.Q96*|COL21A1_uc003pcr.3_Silent_p.V68V	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	711	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCTCCCTTTTGACCCTTTAAA	0.323000														8			4		0	0	0.000602	0	0
HNF4A	3172	broad.mit.edu	37	20	43030112	43030112	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:43030112T>A	uc002xma.3	+	0	189	c.100T>A	c.(100-102)Ttg>Atg	p.L34M	HNF4A_uc010zwo.1_Intron|HNF4A_uc002xlt.3_Intron|HNF4A_uc002xlu.3_Intron|HNF4A_uc002xlv.3_Intron|BC071794_uc002xlw.1_Intron|HNF4A_uc002xly.3_Missense_Mutation_p.L34M|HNF4A_uc010ggq.3_5'UTR|HNF4A_uc002xlz.3_Missense_Mutation_p.L34M	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	34					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.L34L(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGTGCAGGTGTTGACGATGGG	0.577000														184			42		0	0	0.003610	0	0
SPRR2D	6703	broad.mit.edu	37	1	153012660	153012660	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:153012660G>A	uc021ozq.1	-	0	163	c.163C>T	c.(163-165)Cct>Tct	p.P55S	SPRR2D_uc001fbb.2_Missense_Mutation_p.P55S	NM_006945	NP_008876	P22532	SPR2D_HUMAN	Homo sapiens small proline-rich protein 2D (SPRR2D), mRNA.	55					keratinization	cornified envelope|cytoplasm		p.P55S(2)		endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCACAGGAGGATATTTCTGC	0.557000														198			65		0	0	0.003610	0	0
GPR179	440435	broad.mit.edu	37	17	36499484	36499484	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:36499484G>A	uc002hpz.3	-	0	210	c.189C>T	c.(187-189)ctC>ctT	p.L63L		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	63						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTCCAGAGTAGAGATAAGCGA	0.632000														35			26		0	0	0.005443	0	0
ASTL	431705	broad.mit.edu	37	2	96789922	96789922	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:96789922C>T	uc010yui.2	-	8	963	c.963G>A	c.(961-963)agG>agA	p.R321R		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	321					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GGTCGGGGCTCCTGGATTCCG	0.657000														30			12		0	0	0.000978	0	0
MUC17	140453	broad.mit.edu	37	7	100684188	100684188	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100684188C>T	uc003uxp.1	+	2	9544	c.9491C>T	c.(9490-9492)aCt>aTt	p.T3164I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3164	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGGAAGTACTCCATTAACA	0.493000														167			61		0	0	0.003610	0	0
FMO3	2328	broad.mit.edu	37	1	171083156	171083156	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:171083156G>A	uc001ghi.3	+	6	948	c.837G>A	c.(835-837)agG>agA	p.R279R	FMO3_uc001ghh.3_Silent_p.R279R|FMO3_uc010pmb.2_Silent_p.R259R|FMO3_uc010pmc.2_Silent_p.R216R	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	279					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGTCCTGAGGAAAGAGCCTG	0.398000														23			7		0	0	0.004482	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72520494	72520494	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:72520494G>A	uc001jrg.3	+	21	3566	c.3566G>A	c.(3565-3567)gGg>gAg	p.G1189E	ADAMTS14_uc001jrh.3_Missense_Mutation_p.G1186E	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	1186	Pro-rich.				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						ACCCCCGGGGGGCTGCCTTGG	0.642000														25			8		0	0	0.004482	0	0
ABCA12	26154	broad.mit.edu	37	2	215819948	215819948	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:215819948G>A	uc002vew.3	-	42	6591	c.6371C>T	c.(6370-6372)tCc>tTc	p.S2124F	ABCA12_uc002vev.3_Missense_Mutation_p.S1806F|ABCA12_uc010zjn.2_Missense_Mutation_p.S1051F	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2124					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.S2124F(2)		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)		CTTTTCCTTGGAAAGAAAGTA	0.368000														24			9		0	0	0.004482	0	0
ABCA7	10347	broad.mit.edu	37	19	1062201	1062201	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:1062201C>T	uc002lqw.4	+	41	5832	c.5601C>T	c.(5599-5601)ctC>ctT	p.L1867L	ABCA7_uc002lqy.3_Silent_p.L320L|ABCA7_uc010dsc.3_Non-coding_Transcript	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1867	ABC transporter 2.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCGCACCTCAGCATGGGAT	0.682000														191			27		0	0	0.003954	0	0
C7orf58	79974	broad.mit.edu	37	7	120740016	120740016	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:120740016C>T	uc003vjq.4	+	6	1233	c.786C>T	c.(784-786)atC>atT	p.I262I	C7orf58_uc003vjr.1_Silent_p.I262I|C7orf58_uc003vjs.4_Silent_p.I262I|C7orf58_uc003vjt.4_Silent_p.I42I|C7orf58_uc010lkk.2_Silent_p.I42I	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	262				I -> T (in Ref. 3; CAD89961).		endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					ATGAAACAATCTTTCGAGCCG	0.393000														18			10		0	0	0.001368	0	0
CNTN2	6900	broad.mit.edu	37	1	205034309	205034309	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:205034309G>A	uc001hbr.3	+	12	1883	c.1614G>A	c.(1612-1614)atG>atA	p.M538I	CNTN2_uc001hbq.1_Missense_Mutation_p.M429I|CNTN2_uc001hbs.3_Missense_Mutation_p.M326I	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	538	Ig-like C2-type 6.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACCCCACCATGGACCTCACCT	0.567000														77			40		0	0	0.006999	0	0
RIMBP3	85376	broad.mit.edu	37	22	20457175	20457175	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:20457175T>A	uc002zsd.4	-	0	4612	c.4127A>T	c.(4126-4128)cAt>cTt	p.H1376L	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CAAAACGTTATGGAAGTCAGA	0.582000														79			13		0	0	0.002450	0	0
FLG	2312	broad.mit.edu	37	1	152279679	152279679	+	Silent	SNP	C	T	T	rs143745201		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152279679C>T	uc001ezu.1	-	2	7719	c.7683G>A	c.(7681-7683)agG>agA	p.R2561R		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2561	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R2561R(2)|p.R2561S(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCCCCAGTTCCTGCTTGTCC	0.587000									Ichthyosis					168			65		0	0	0.003610	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787056	73787056	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:73787056C>T	uc011dyh.2	+	3	975	c.628C>T	c.(628-630)Ctt>Ttt	p.L210F	KCNQ5_uc003pgj.4_Missense_Mutation_p.L210F|KCNQ5_uc011dyi.2_Missense_Mutation_p.L210F|KCNQ5_uc010kat.3_Missense_Mutation_p.L210F|KCNQ5_uc003pgk.3_Missense_Mutation_p.L210F|KCNQ5_uc011dyj.2_Missense_Mutation_p.L210F|KCNQ5_uc011dyk.2_5'UTR	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	210					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TACCATTGTTCTTATCGCTTC	0.403000														45			22		0	0	0.004656	0	0
PHF21B	112885	broad.mit.edu	37	22	45283928	45283929	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:45283928_45283929GG>AA	uc003bfn.3	-	9	1262_1263	c.1111_1112CC>TT	c.(1111-1113)ccg>TTg	p.P371L	PHF21B_uc011aqk.2_Missense_Mutation_p.P317L|PHF21B_uc003bfm.3_Missense_Mutation_p.P167L|PHF21B_uc011aql.2_Missense_Mutation_p.P329L|PHF21B_uc011aqm.1_3'UTR	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	371							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)		GTAGGCCCCCGGGCAGGTGCCG	0.678000														7			6		0	0	0.004672	0	0
MST1P2	11209	broad.mit.edu	37	1	16976623	16976623	+	RNA	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:16976623G>A	uc010och.2	+	13		c.2344G>A			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGTCCTGAAAGGAATTAGAAT	0.577000														85			4		0	0	0.000602	0	0
NOS3	4846	broad.mit.edu	37	7	150703536	150703536	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:150703536G>A	uc003wif.3	+	14	2070	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	NOS3_uc011kuy.2_Missense_Mutation_p.E386K	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	592	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TGCCCTGATGGAGATGTCCGG	0.522000														101			60		0	0	0.003610	0	0
PDCD4	27250	broad.mit.edu	37	10	112645010	112645010	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:112645010G>A	uc001kzh.3	+	5	728	c.442_splice	c.e5-1	p.E148_splice	PDCD4_uc001kzg.3_Splice_Site_p.E137_splice|PDCD4_uc010qre.2_Splice_Site_p.E134_splice	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	Homo sapiens programmed cell death 4 (neoplastic transformation inhibitor) (PDCD4), transcript variant 1, mRNA.	148					apoptosis|cell aging|negative regulation of JUN kinase activity|negative regulation of cell cycle|negative regulation of transcription, DNA-dependent	cytosol|nucleus	RNA binding|protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TCCCCTCAAAGGAGAACTGTG	0.328000														36			14		0	0	0.001855	0	0
SV2A	9900	broad.mit.edu	37	1	149879733	149879733	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:149879733G>A	uc001etg.3	-	8	1896	c.1405C>T	c.(1405-1407)Cct>Tct	p.P469S	SV2A_uc009wlk.3_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.P469S	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	469					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ATCATGTCAGGAAACCAGACG	0.522000														82			38		0	0	0.002852	0	0
CCNB3	85417	broad.mit.edu	37	X	50052150	50052150	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:50052150C>T	uc004dox.4	+	5	1279	c.981C>T	c.(979-981)ttC>ttT	p.F327F	CCNB3_uc004doy.3_Silent_p.F327F|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	327					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding	p.F327L(3)		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)					AGACACTTTTCCAAGAGCTAT	0.438000														22			51		0	0	0.003610	0	0
LAMB1	3912	broad.mit.edu	37	7	107600245	107600245	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:107600245G>A	uc003vev.2	-	16	2582	c.2421C>T	c.(2419-2421)tcC>tcT	p.S807S	LAMB1_uc003vew.2_Silent_p.S783S|LAMB1_uc003vex.3_Silent_p.S783S	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	783	Laminin EGF-like 6.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATCACACACGGAACTTAACG	0.572000														18			4		0	0	0.009096	0	0
ADAM28	10863	broad.mit.edu	37	8	24167449	24167449	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:24167449G>A	uc003xdy.3	+	2	276	c.193G>A	c.(193-195)Gga>Aga	p.G65R	ADAM28_uc003xdx.3_Missense_Mutation_p.G65R|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	65					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.G65E(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GACAATTAATGGAAAAATTGC	0.294000														60			10		0	0	0.001368	0	0
LRP2	4036	broad.mit.edu	37	2	170038771	170038771	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:170038771C>T	uc002ues.3	-	50	10117	c.9904G>A	c.(9904-9906)Gga>Aga	p.G3302R		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3302					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CGGCGGTGTCCACCATTGAGG	0.512000														81			44		0	0	0.009718	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48916900	48916900	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:48916900G>A	uc002isv.4	+	1	945	c.251G>A	c.(250-252)gGg>gAg	p.G84E	WFIKKN2_uc010dbu.3_5'UTR	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	84	WAP.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AACGTATGTGGGACCAAGAGC	0.582000														12			17		0	0	0.007413	0	0
TGIF2	60436	broad.mit.edu	37	20	35219809	35219809	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:35219809C>T	uc021wcv.1	+	2	903	c.689C>T	c.(688-690)cCt>cTt	p.P230L	TGIF2_uc021wcu.1_Missense_Mutation_p.P230L|TGIF2_uc002xfn.3_Missense_Mutation_p.P230L|TGIF2_uc021wcw.1_Missense_Mutation_p.P230L|TGIF2_uc002xfo.3_Intron	NM_001199514	NP_001186443	Q9GZN2	TGIF2_HUMAN	Homo sapiens TGFB-induced factor homeobox 2 (TGIF2), transcript variant 1, mRNA.	230	Repressive function.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				ACTCCCATCCCTTTAGTCTCT	0.552000														87			41		0	0	0.003610	0	0
SVEP1	79987	broad.mit.edu	37	9	113189870	113189870	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:113189870C>T	uc010mtz.3	-	36	6312	c.5975_splice	c.e36+1	p.G1992_splice	SVEP1_uc010mty.3_Splice_Site	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1992	Sushi 10.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCCCTACTCACCCTTCTTTGC	0.483000											OREG0019389	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		71			14		0	0	0.004007	0	0
SAGE1	55511	broad.mit.edu	37	X	134993485	134993485	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:134993485G>A	uc004ezh.3	+	16	2307	c.2140G>A	c.(2140-2142)Gat>Aat	p.D714N	SAGE1_uc010nry.1_Missense_Mutation_p.D683N|SAGE1_uc011mvv.2_Missense_Mutation_p.D338N	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	714										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AAGTACCAGGGATCTGTGTAT	0.433000														16			50		0	0	0.003610	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517231	158517231	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158517231G>A	uc010pil.2	-	0	665	c.665C>T	c.(664-666)tCc>tTc	p.S222F		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGCAGCGTAGGATGCCACCAC	0.547000														44			24		0	0	0.002299	0	0
OR2K2	26248	broad.mit.edu	37	9	114090020	114090020	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:114090020C>T	uc011lwp.2	-	0	694	c.694G>A	c.(694-696)Gga>Aga	p.G232R		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E231D(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						TTGTTTCTTCCCTCTGCTGAG	0.443000														18			5		0	0	0.001168	0	0
LILRP2	79166	broad.mit.edu	37	19	55221680	55221680	+	RNA	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55221680G>A	uc002qgs.1	+	0		c.2080G>A			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		GCTCCGCACAGGCCCTGCTGG	0.672000														12			6		0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9045877	9045877	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9045877C>T	uc002mkp.3	-	4	35958	c.35754G>A	c.(35752-35754)tgG>tgA	p.W11918*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11920	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						TTTCTGTGTTCCAGGAGGTCA	0.493000														61			43		0	0	0.002852	0	0
BMS1	9790	broad.mit.edu	37	10	43319084	43319084	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:43319084C>T	uc001jaj.3	+	20	3666	c.3308C>T	c.(3307-3309)cCt>cTt	p.P1103L		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	1103					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACTTGGTATCCTGTTTCCATC	0.408000														27			6		0	0	0.004482	0	0
KIF20B	9585	broad.mit.edu	37	10	91503565	91503565	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:91503565G>A	uc001kgs.1	+	22	3988	c.3916_splice	c.e22-1	p.V1306_splice	KIF20B_uc001kgr.1_Splice_Site_p.V1266_splice|KIF20B_uc001kgt.1_Splice_Site_p.V517_splice|KIF20B_uc009xtw.1_Splice_Site	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1306					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TATTTTGTAGGTATCTGTAAT	0.289000														32			9		0	0	0.006214	0	0
HTR2A	3356	broad.mit.edu	37	13	47409563	47409563	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:47409563C>T	uc010acr.3	-	3	1514	c.825G>A	c.(823-825)cgG>cgA	p.R275R	HTR2A_uc001vbr.3_Silent_p.R191R	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	275					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CTAATTTGGCCCGTGTGCCAA	0.458000														21			15		0	0	0.004007	0	0
OR10G4	390264	broad.mit.edu	37	11	123887188	123887188	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:123887188G>A	uc010sac.2	+	0	907	c.907G>A	c.(907-909)Gac>Aac	p.D303N		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GAAACTTAGAGACAAAGTAGC	0.368000														30			4		0	0	0.000602	0	0
NUP54	53371	broad.mit.edu	37	4	77057383	77057383	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:77057383G>C	uc003hjs.3	-	3	606	c.478C>G	c.(478-480)Ccg>Gcg	p.P160A	NUP54_uc010ije.3_Intron|NUP54_uc011cbs.2_Intron|NUP54_uc011cbt.2_Missense_Mutation_p.P112A|NUP54_uc003hjt.3_Intron	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	Homo sapiens nucleoporin 54kDa (NUP54), mRNA.	160	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		p.P160P(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TCCACTGGCGGAATATTATTG	0.353000														32			27		0	0	0.002836	0	0
PCDH17	27253	broad.mit.edu	37	13	58299120	58299120	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:58299120G>A	uc001vhq.1	+	3	4064	c.3172G>A	c.(3172-3174)Gaa>Aaa	p.E1058K	PCDH17_uc010aec.1_Missense_Mutation_p.E1057K|PCDH17_uc001vhr.1_Missense_Mutation_p.E147K	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	1058					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GGATGGCTGTGAAGCAAAACC	0.552000														34			4		0	0	0.009096	0	0
SV2C	22987	broad.mit.edu	37	5	75596660	75596660	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:75596660G>A	uc003kei.1	+	10	1877	c.1743G>A	c.(1741-1743)tgG>tgA	p.W581*		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	581					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GTGCCTACTGGATTTATTTTG	0.403000														56			23		0	0	0.001882	0	0
FREM1	158326	broad.mit.edu	37	9	14863874	14863874	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:14863874C>T	uc003zlm.3	-	3	1078	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	88					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.E88K(2)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TACTTGACTTCGTTGGGAAGG	0.413000														14			11		0	0	0.001855	0	0
MKI67	4288	broad.mit.edu	37	10	129903183	129903183	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:129903183C>T	uc001lke.3	-	12	7116	c.6921G>A	c.(6919-6921)aaG>aaA	p.K2307K	MKI67_uc001lkf.3_Silent_p.K1947K|MKI67_uc009yav.1_Silent_p.K1882K|MKI67_uc009yaw.1_Silent_p.K1457K	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2307	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGGCCTTTTCCTTAGGAGTTT	0.478000														132			20		0	0	0.010504	0	0
MET	4233	broad.mit.edu	37	7	116418907	116418907	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:116418907C>T	uc003vij.3	+	16	3605	c.3418C>T	c.(3418-3420)Ctc>Ttc	p.L1140F	MET_uc010lkh.3_Missense_Mutation_p.L1158F|MET_uc011knj.2_Missense_Mutation_p.L710F	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1140	Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCCCAATGTCCTCTCGCTCCT	0.463000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					64			17		0	0	0.004990	0	0
CASC1	55259	broad.mit.edu	37	12	25297531	25297531	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:25297531C>T	uc001rgk.3	-	8	852	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	CASC1_uc001rgj.3_Missense_Mutation_p.R211Q|CASC1_uc001rgm.4_Missense_Mutation_p.R315Q|CASC1_uc001rgl.3_Missense_Mutation_p.R251Q|CASC1_uc010sje.2_Missense_Mutation_p.R192Q|CASC1_uc010sjf.2_Missense_Mutation_p.R139Q|CASC1_uc010sjg.1_Missense_Mutation_p.R251Q	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA.	251										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ATGCAGGAGTCGTACAGCAAT	0.378000														10			256		0	0	0.003610	0	0
SERPINB12	89777	broad.mit.edu	37	18	61228387	61228387	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:61228387G>A	uc010xeo.2	+	3	514	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	SERPINB12_uc010xen.2_Missense_Mutation_p.E152K	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	152					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AAAAAACCCTGAAAAATCCAG	0.373000														45			18		0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179426223	179426223	+	Silent	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179426223A>G	uc021vsy.1	-	274	77157	c.76932T>C	c.(76930-76932)acT>acC	p.T25644T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.T19339T|TTN_uc021vta.1_Silent_p.T19272T|TTN_uc021vtb.1_Silent_p.T19147T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26571	Ig-like 125.						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)			CTTTCATTTGAGTATCAGCAA	0.363000														50			14		0	0	0.001855	0	0
MYLK	4638	broad.mit.edu	37	3	123451915	123451915	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:123451915G>A	uc003ego.3	-	10	1626	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	MYLK_uc011bjw.2_Silent_p.F448F|MYLK_uc003egp.3_Intron|MYLK_uc003egq.3_Silent_p.F448F|MYLK_uc003egr.3_Intron|MYLK_uc003egs.3_Silent_p.F272F	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	448	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGCCTTCCAGGAACCAGGCCA	0.567000														20			9		0	0	0.000978	0	0
KCNU1	157855	broad.mit.edu	37	8	36663823	36663823	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:36663823G>A	uc010lvw.3	+	4	592	c.505G>A	c.(505-507)Gag>Aag	p.E169K	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	169						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)		GTTCTGGCTGGAGATGAATTC	0.378000														9			6		0	0	0.001168	0	0
FAT3	120114	broad.mit.edu	37	11	92616291	92616291	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:92616291G>A	uc001pdj.4	+	22	12686	c.12669G>A	c.(12667-12669)caG>caA	p.Q4223Q	FAT3_uc001pdi.4_Silent_p.Q663Q	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4223					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACGTCTACCAGGAGGTGGGGC	0.672000										TCGA Ovarian(4;0.039)				170			59		0	0	0.003610	0	0
IFNA2	3440	broad.mit.edu	37	9	21384864	21384864	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:21384864C>T	uc003zpb.3	-	0	533	c.465G>A	c.(463-465)gaG>gaA	p.E155E		NM_000605	NP_000596	P01563	IFNA2_HUMAN	Homo sapiens interferon, alpha 2 (IFNA2), mRNA.	155					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of transcription, DNA-dependent|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.E155Q(1)		breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TGTATTTCTTCTCTTTCAGAT	0.438000														161			32		0	0	0.002836	0	0
RGS4	5999	broad.mit.edu	37	1	163039213	163039213	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:163039213G>A	uc001gcl.4	+	1	559	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	RGS4_uc009wuy.3_5'UTR|RGS4_uc009wuz.3_5'UTR|RGS4_uc009wva.3_5'Flank	NM_001102445	NP_001106851	P49798	RGS4_HUMAN	Homo sapiens regulator of G-protein signaling 4 (RGS4), transcript variant 1, mRNA.	0	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						GCTCAAAGCCGAAGCCACAGC	0.502000											OREG0013952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			6		0	0	0.001168	0	0
NCOA6	23054	broad.mit.edu	37	20	33330866	33330866	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:33330866G>A	uc002xav.3	-	11	5765	c.3194C>T	c.(3193-3195)tCc>tTc	p.S1065F	NCOA6_uc002xaw.3_Missense_Mutation_p.S1065F|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Missense_Mutation_p.S1065F|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	1065	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						CATTCTCTGGGAGTCGGGGTT	0.527000														109			44		0	0	0.003610	0	0
SCN3A	6328	broad.mit.edu	37	2	165947098	165947098	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:165947098G>A	uc002ucx.3	-	27	6057	c.5565C>T	c.(5563-5565)gcC>gcT	p.A1855A	SCN3A_uc010zcy.2_Silent_p.A338A|SCN3A_uc002ucy.3_Silent_p.A1806A|SCN3A_uc002ucz.3_Silent_p.A1806A	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1855						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GCTTTGTAAAGGCAAATAAAA	0.458000														29			25		0	0	0.003954	0	0
CYP4F22	126410	broad.mit.edu	37	19	15654785	15654785	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15654785G>A	uc002nbh.4	+	8	1110	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	315						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						ATTCCAGGATGAAGATGGAAA	0.562000														28			14		0	0	0.004007	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889980	23889980	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:23889980C>T	uc001ywj.4	-	0	3014	c.2910G>A	c.(2908-2910)tgG>tgA	p.W970*		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		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;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TCGGGCCCTCCCAGGCACTCA	0.662000														18			4		0	0	0.009096	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95513801	95513801	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:95513801C>T	uc010fhp.3	-	4		c.604G>A						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						TTCTGCATCTCGTCCACACAT	0.358000														469			45		0	0	0.003610	0	0
BPIFB2	80341	broad.mit.edu	37	20	31607532	31607532	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:31607532C>T	uc002wyj.3	+	10	1250	c.1056C>T	c.(1054-1056)ttC>ttT	p.F352F		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	352						extracellular region	lipid binding										ACTCGGCTTTCCAGTCCCTCT	0.637000														14			10		0	0	0.008291	0	0
TLL2	7093	broad.mit.edu	37	10	98145829	98145829	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:98145829C>T	uc001kml.2	-	14	2237	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	666	CUB 3.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCTTCCAGTTCAAACACTTCA	0.547000														18			4		0	0	0.001168	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858327	9858327	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:9858327G>A	uc010uym.2	-	13	3384	c.3074C>T	c.(3073-3075)tCa>tTa	p.S1025L	GRIN2A_uc002czo.4_Missense_Mutation_p.S1025L|GRIN2A_uc010uyn.2_Missense_Mutation_p.S868L|GRIN2A_uc002czr.4_Missense_Mutation_p.S1025L	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1025					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S1025L(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTGGGATAGTGAATCCTGGCG	0.542000														114			28		0	0	0.009535	0	0
C12orf51	283450	broad.mit.edu	37	12	112645736	112645736	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:112645736G>A	uc021reb.1	-	51	8067	c.7671C>T	c.(7669-7671)ttC>ttT	p.F2557F	C12orf51_uc001ttr.1_Silent_p.F444F	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						CTTCATTGCGGAAGCGTCTTC	0.507000														9			14		0	0	0.003163	0	0
HECW2	57520	broad.mit.edu	37	2	197122610	197122610	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:197122610C>T	uc002utm.1	-	17	3539	c.3356G>A	c.(3355-3357)cGa>cAa	p.R1119Q	HECW2_uc002utl.1_Missense_Mutation_p.R763Q|BC062769_uc002utn.1_5'Flank	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	1119					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCCTTCAGTTCGGATAAATTG	0.403000														63			19		0	0	0.010504	0	0
SCGB1D2	10647	broad.mit.edu	37	11	62010826	62010826	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:62010826C>T	uc001ntb.3	+	1	177	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L		NM_006551	NP_006542	O95969	SG1D2_HUMAN	Homo sapiens secretoglobin, family 1D, member 2 (SCGB1D2), mRNA.	41						extracellular space	binding			breast(1)|endometrium(1)|lung(1)	3						TAGTGAACCTCTGTTCAAGTT	0.443000														46			23		0	0	0.004656	0	0
PLA2R1	22925	broad.mit.edu	37	2	160808060	160808060	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:160808060C>T	uc002ube.2	-	23	3543	c.3331G>A	c.(3331-3333)Gat>Aat	p.D1111N	PLA2R1_uc010zcp.2_Missense_Mutation_p.D1111N|PLA2R1_uc002ubf.3_Missense_Mutation_p.D1111N	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	1111					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGATACATATCAGATGTATTT	0.363000														38			15		0	0	0.004007	0	0
FAT3	120114	broad.mit.edu	37	11	92616345	92616345	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:92616345C>T	uc001pdj.4	+	22	12740	c.12723C>T	c.(12721-12723)ttC>ttT	p.F4241F	FAT3_uc001pdi.4_Silent_p.F681F	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4241					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CACCCTGCTTCCAGAGTGACT	0.662000										TCGA Ovarian(4;0.039)				197			6		0	0	0.001168	0	0
C12orf42	374470	broad.mit.edu	37	12	103795408	103795408	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:103795408C>T	uc001tjt.2	-	2	212	c.124G>A	c.(124-126)Gat>Aat	p.D42N	C12orf42_uc001tjs.3_Non-coding_Transcript|C12orf42_uc009zuf.1_Missense_Mutation_p.D42N|C12orf42_uc001tju.2_5'UTR	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.	42										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GTGCTTCTATCCCACAGGGTG	0.438000														13			18		0	0	0.006122	0	0
OBP2A	29991	broad.mit.edu	37	9	138441153	138441153	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:138441153G>A	uc004cgc.3	+	6	598	c.556_splice	c.e6-1	p.E186_splice	OBP2A_uc004cgb.3_Splice_Site_p.G164_splice|OBP2A_uc010nau.3_Splice_Site|OBP2A_uc010nav.3_Splice_Site_p.G141_splice			Q9NY56	OBP2A_HUMAN	Homo sapiens odorant binding protein 2A (OBP2A), mRNA.	0					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GGTCTCTGCAGGAAGCTGCGT	0.617000														101			23		0	0	0.005443	0	0
INADL	10207	broad.mit.edu	37	1	62340985	62340985	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:62340985G>A	uc001dab.3	+	20	3020	c.2906G>A	c.(2905-2907)aGa>aAa	p.R969K	INADL_uc009waf.1_Missense_Mutation_p.R969K|INADL_uc001daa.2_Missense_Mutation_p.R969K|INADL_uc001dad.3_Missense_Mutation_p.R666K|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	969					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAACAAGGCAGATTTGACGAC	0.333000														63			21		0	0	0.008871	0	0
DYTN	391475	broad.mit.edu	37	2	207572096	207572096	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:207572096C>T	uc002vbr.1	-	2	343	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	76						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CCTGGGTTTTCCTCCCTGGCC	0.557000														17			5		0	0	0.000602	0	0
CATSPERD	257062	broad.mit.edu	37	19	5772804	5772804	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:5772804G>A	uc002mda.3	+	19	1830	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q		NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	590						integral to membrane											CCTAGGTGGCGAAAAGACAGT	0.612000														79			18		0	0	0.003330	0	0
S100A8	6279	broad.mit.edu	37	1	153362599	153362599	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:153362599C>T	uc001fbs.3	-	2	432	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_002964	NP_002955	P05109	S10A8_HUMAN	Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA.	88				VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390).	chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGCTTTCTTCATGGCTTTTT	0.473000														110			25		0	0	0.003954	0	0
XIRP2	129446	broad.mit.edu	37	2	168104641	168104641	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:168104641C>T	uc002udx.3	+	8	6828	c.6739C>T	c.(6739-6741)Cac>Tac	p.H2247Y	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.H2072Y|XIRP2_uc010fpq.3_Missense_Mutation_p.H2025Y|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2072					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GACTGATGTTCACTTGAAAAG	0.383000														12			9		0	0	0.008291	0	0
OR10T2	128360	broad.mit.edu	37	1	158368604	158368604	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158368604G>A	uc010pih.2	-	0	653	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GAAGCCATAGGATATGAGAAT	0.463000														48			6		0	0	0.001168	0	0
OR52H1	390067	broad.mit.edu	37	11	5566366	5566366	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5566366G>A	uc010qzh.2	-	0	388	c.388C>T	c.(388-390)Cac>Tac	p.H130Y	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	130			H -> R (in dbSNP:rs1566275).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D129N(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)		GCTACATAGTGATCAAATGCC	0.453000														25			12		0	0	0.001368	0	0
RBMXL2	27288	broad.mit.edu	37	11	7110574	7110574	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:7110574G>A	uc001mfc.2	+	0	410	c.223G>A	c.(223-225)Gat>Aat	p.D75N		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	75	RRM.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAAGTCCCTGGATGGTAAGGC	0.672000														7			5		0	0	0.000602	0	0
HSPB8	26353	broad.mit.edu	37	12	119631570	119631570	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:119631570C>T	uc001txb.3	+	2	1021	c.498C>T	c.(496-498)atC>atT	p.I166I		NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN	Homo sapiens heat shock 22kDa protein 8 (HSPB8), mRNA.	166					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCTGATCATCGAAGCTCCCC	0.498000														27			21		0	0	0.010504	0	0
MUC16	94025	broad.mit.edu	37	19	9046043	9046043	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9046043G>A	uc002mkp.3	-	4	35792	c.35588C>T	c.(35587-35589)cCa>cTa	p.P11863L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11865	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						AGTTGAAGTTGGAATCATTGT	0.488000														86			33		0	0	0.002445	0	0
CORO2A	7464	broad.mit.edu	37	9	100899903	100899903	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:100899903C>T	uc004aym.3	-	2	385	c.269G>A	c.(268-270)tGg>tAg	p.W90*	CORO2A_uc004ayl.3_Nonsense_Mutation_p.W90*	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	90					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAAAGGGTTCCACTTGACATC	0.557000														68			17		0	0	0.008871	0	0
OVOL2	58495	broad.mit.edu	37	20	18005591	18005591	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:18005591G>A	uc002wqi.1	-	3	760	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C		NM_021220	NP_067043	Q9BRP0	OVOL2_HUMAN	Homo sapiens ovo-like 2 (Drosophila) (OVOL2), mRNA.	173					negative regulation of Notch signaling pathway|negative regulation of keratinocyte differentiation|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TTGTAGGGACGAATGCCTGAA	0.522000														70			12		0	0	0.001855	0	0
OR10R2	343406	broad.mit.edu	37	1	158450494	158450494	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158450494C>T	uc010pik.2	+	0	827	c.827C>T	c.(826-828)tCc>tTc	p.S276F	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GGCTGTGCTTCCTTCATCTAC	0.488000														33			21		0	0	0.010504	0	0
TNC	3371	broad.mit.edu	37	9	117848531	117848531	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:117848531C>T	uc004bjj.4	-	2	1891	c.1479G>A	c.(1477-1479)ggG>ggA	p.G493G	TNC_uc010mvf.3_Silent_p.G493G|TNC_uc022bmj.1_Silent_p.G493G	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	493	EGF-like 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GGCAGTCTTCCCCTGTGTAGC	0.597000														85			19		0	0	0.001882	0	0
OR2J3	442186	broad.mit.edu	37	6	29079901	29079901	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:29079901C>T	uc011dll.2	+	0	234	c.234C>T	c.(232-234)acC>acT	p.T78T		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GCTACACCACCAGCTCTATCC	0.473000														109			52		0	0	0.003610	0	0
LRRC32	2615	broad.mit.edu	37	11	76370954	76370955	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:76370954_76370955GG>AA	uc001oxq.4	-	2	1925_1926	c.1682_1683CC>TT	c.(1681-1683)acc>aTT	p.T561I	LRRC32_uc001oxr.4_Missense_Mutation_p.T561I|LRRC32_uc010rsf.2_Missense_Mutation_p.T547I	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	561						integral to plasma membrane		p.T561T(2)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GCCGGAGGCTGGTCTCCAGGCC	0.663000														20			19		0	0	0.004672	0	0
COMTD1	118881	broad.mit.edu	37	10	76995454	76995454	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:76995454G>A	uc001jxb.3	-	1	226	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S		NM_144589	NP_653190	Q86VU5	CMTD1_HUMAN	Homo sapiens catechol-O-methyltransferase domain containing 1 (COMTD1), mRNA.	48						integral to membrane	O-methyltransferase activity			central_nervous_system(1)|large_intestine(1)|lung(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)					TCCTCGGGGGGAAGCAGGCAC	0.706000														7			3		0	0	0.000602	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110439294	110439294	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:110439294G>A	uc003yne.3	+	24	3013	c.2909G>A	c.(2908-2910)gGa>gAa	p.G970E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	970					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.E969*(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAGGGAATGGGAAGAATCTCA	0.552000										HNSCC(38;0.096)				40			13		0	0	0.001855	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961966	73961966	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:73961966A>C	uc004eby.3	-	2	3043	c.2426T>G	c.(2425-2427)gTt>gGt	p.V809G		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	809					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCCCGGGATAACAGGTATATT	0.408000														22			51		0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100699524	100699524	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100699524C>T	uc003uxp.1	+	11	13466	c.13413C>T	c.(13411-13413)tcC>tcT	p.S4471S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4471						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)					TCCAGCCCTCCTTGAGACACA	0.493000														28			23		0	0	0.003330	0	0
SOX7	83595	broad.mit.edu	37	8	10583780	10583781	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:10583780_10583781AC>TT	uc011kwz.2	-	5	823_824	c.790_791GT>AA	c.(790-792)gtg>AAg	p.V264K	SOX7_uc003wtf.3_Missense_Mutation_p.V212K	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	212					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CGGCTCCAGCACGTCCAGGGGA	0.703000														31			11		0	0	0.004672	0	0
SLC22A8	9376	broad.mit.edu	37	11	62766395	62766395	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:62766395G>A	uc009yon.3	-	4	880	c.759C>T	c.(757-759)tcC>tcT	p.S253S	SLC22A8_uc001nwn.1_Silent_p.S44S|SLC22A8_uc009yom.3_Silent_p.S130S|SLC22A8_uc001nwo.3_Silent_p.S253S|SLC22A8_uc010rmm.2_Silent_p.S162S|SLC22A8_uc001nwp.2_Silent_p.S253S	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	253					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CCACATACCAGGATGATAGGA	0.592000														35			9		0	0	0.000978	0	0
LEMD1	93273	broad.mit.edu	37	1	205389633	205389633	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:205389633T>A	uc001hcj.2	-	1	167	c.32A>T	c.(31-33)aAa>aTa	p.K11I	LEMD1_uc001hcl.2_Missense_Mutation_p.K11I|LEMD1_uc001hci.2_Missense_Mutation_p.K11I|LEMD1_uc001hcm.2_Non-coding_Transcript|LEMD1_uc001hcn.2_Missense_Mutation_p.K11I|LEMD1_uc001hck.2_Non-coding_Transcript	NM_001199050	NP_001185979	Q68G75	LEMD1_HUMAN	Homo sapiens LEM domain containing 1 (LEMD1), transcript variant 1, mRNA.	11	LEM.					integral to membrane|nuclear envelope				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			GTTCTGCAATTTACAGTCACT	0.358000														36			25		0	0	0.004656	0	0
PREX1	57580	broad.mit.edu	37	20	47274731	47274731	+	Silent	SNP	G	A	A	rs147901913		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:47274731G>A	uc002xtw.1	-	16	1940	c.1917C>T	c.(1915-1917)atC>atT	p.I639I	PREX1_uc002xtv.1_5'Flank	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	639	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCTTCTCCTCGATGTCAAAGC	0.672000											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		252			23		0	0	0.002299	0	0
RASGRF1	5923	broad.mit.edu	37	15	79320131	79320131	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:79320131C>T	uc002beq.3	-	8	1708	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	RASGRF1_uc002bep.3_Missense_Mutation_p.E445K|RASGRF1_uc010blm.1_Missense_Mutation_p.E367K|RASGRF1_uc002ber.4_Missense_Mutation_p.E445K	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	445					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TCACAGCCTTCGATGATCATG	0.567000														47			41		0	0	0.009718	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767510	143767510	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:143767510G>A	uc001ejt.3	-	0	372	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	113	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CAGTGCAGATGAAAAACTGGG	0.478000														282			19		0	0	0.008361	0	0
NUP62	23636	broad.mit.edu	37	19	50412799	50412799	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:50412799G>A	uc002prb.3	-	1	510	c.266C>T	c.(265-267)tCt>tTt	p.S89F	IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Missense_Mutation_p.S89F|NUP62_uc002pqy.3_Missense_Mutation_p.S89F|NUP62_uc002pra.3_Missense_Mutation_p.S89F|NUP62_uc002pqz.3_Missense_Mutation_p.S89F|NUP62_uc002prc.3_Missense_Mutation_p.S89F|NUP62_uc021uya.1_Missense_Mutation_p.S89F	NM_012346	NP_714941	P37198	NUP62_HUMAN	Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA.	89	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	SH2 domain binding|chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GATCCCCAAAGAAAATCCAGT	0.582000														90			48		0	0	0.003610	0	0
ANK2	287	broad.mit.edu	37	4	114286205	114286205	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:114286205C>T	uc003ibe.4	+	40	10999	c.10899C>T	c.(10897-10899)ctC>ctT	p.L3633L	ANK2_uc003ibd.4_Silent_p.L1539L|ANK2_uc003ibf.4_Silent_p.L1548L|ANK2_uc011cgc.2_Silent_p.L724L|ANK2_uc003ibg.4_Silent_p.L532L|ANK2_uc003ibh.4_Silent_p.L222L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3600					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATACCAACCTCGTTGAATGTC	0.388000														29			32		0	0	0.002836	0	0
SERPINI2	5276	broad.mit.edu	37	3	167159914	167159914	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:167159914C>T	uc003fes.1	-	8	1302	c.1231G>A	c.(1231-1233)Gat>Aat	p.D411N	SERPINI2_uc003fer.1_Missense_Mutation_p.D401N|SERPINI2_uc003fet.1_Missense_Mutation_p.D401N	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	401					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GAATCTAAATCTCTTCCTTTT	0.323000														14			7		0	0	0.004482	0	0
PKP1	5317	broad.mit.edu	37	1	201294248	201294248	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:201294248C>T	uc001gwd.3	+	11	2328	c.2077C>T	c.(2077-2079)Cga>Tga	p.R693*	PKP1_uc001gwe.3_Nonsense_Mutation_p.R672*|PKP1_uc009wzm.3_Nonsense_Mutation_p.R280*	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	693					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CAACCTGTGCCGAAGCAGGTG	0.617000														60			32		0	0	0.002445	0	0
SYT15	83849	broad.mit.edu	37	10	46968689	46968689	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:46968689G>A	uc001jea.3	-	2	400	c.247C>T	c.(247-249)Ctt>Ttt	p.L83F	SYT15_uc001jdz.2_Missense_Mutation_p.L83F|SYT15_uc001jeb.3_5'UTR|SYT15_uc010qfp.1_5'Flank	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	83						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CGGCCTTGAAGGGTTGGGGGC	0.637000														90			5		0	0	0.000602	0	0
CFHR1	3078	broad.mit.edu	37	1	196762596	196762596	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196762596C>T	uc001gtl.3	+	5	1033	c.946C>T	c.(946-948)Caa>Taa	p.Q316*	CFH_uc021pgt.1_Intron|CFHR1_uc010poy.2_Nonsense_Mutation_p.Q255*|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	314	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TCTATCATTTCAAGCAGTGTG	0.373000														53			16		0	0	0.007413	0	0
AMPD1	270	broad.mit.edu	37	1	115215745	115215745	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:115215745G>A	uc001efe.2	-	15	2381	c.2333C>T	c.(2332-2334)tCa>tTa	p.S778L	DENND2C_uc001eez.3_5'Flank|AMPD1_uc001eff.2_Missense_Mutation_p.S774L	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	745					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TTATTCTGTTGATTTAAGACC	0.333000														13			6		0	0	0.001168	0	0
OR4C46	119749	broad.mit.edu	37	11	51515947	51515947	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:51515947C>T	uc010ric.2	+	0	666	c.666C>T	c.(664-666)tcC>tcT	p.S222S		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TCTTGTGCTCCCTAAGGACTC	0.488000														36			22		0	0	0.010504	0	0
TGM5	9333	broad.mit.edu	37	15	43552323	43552323	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:43552323G>A	uc001zrd.2	-	2	371	c.363C>T	c.(361-363)atC>atT	p.I121I	TGM5_uc001zre.2_Intron	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	121					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGAAGGAGTCGATGTGGATTT	0.627000														48			27		0	0	0.007291	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558648	113558648	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:113558648G>A	uc010ljy.1	-	0	435	c.404C>T	c.(403-405)tCt>tTt	p.S135F		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	135	CBM21.				glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCCAAGAAGAGACTCAGTTGA	0.363000														48			15		0	0	0.004990	0	0
PTPRG	5793	broad.mit.edu	37	3	61989031	61989031	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:61989031C>T	uc003dlb.3	+	3	1098	c.379C>T	c.(379-381)Ctt>Ttt	p.L127F	PTPRG_uc003dlc.3_Missense_Mutation_p.L127F	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	127	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGTCGCCATCCTTCTGAAAGA	0.438000														48			15		0	0	0.004007	0	0
ZNF177	7730	broad.mit.edu	37	19	9491886	9491886	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9491886C>T	uc021uon.1	+	5	1040	c.879C>T	c.(877-879)ttC>ttT	p.F293F	ZNF177_uc002mli.3_Silent_p.F133F|ZNF177_uc002mlj.3_3'UTR|ZNF177_uc002mlk.3_Silent_p.F133F	NM_001172651	NP_001166122	Q13360	ZN177_HUMAN	Homo sapiens zinc finger protein 177 (ZNF177), transcript variant 1, mRNA.	133					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						GGAAAGCCTTCATTTTTCAGT	0.438000														62			7		0	0	0.001984	0	0
DPT	1805	broad.mit.edu	37	1	168698215	168698215	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:168698215C>T	uc001gfp.3	-	0	228	c.198G>A	c.(196-198)aaG>aaA	p.K66K		NM_001937	NP_001928	Q07507	DERM_HUMAN	Homo sapiens dermatopontin (DPT), mRNA.	66	2 X 53-55 AA tandem repeats.				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CAGAACCTTCCTTCTTGCTGA	0.587000														51			24		0	0	0.005443	0	0
OR52E4	390081	broad.mit.edu	37	11	5905919	5905919	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5905919C>T	uc010qzs.2	+	0	397	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	133					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)		CAACCCTCTCCAGTACACCAT	0.423000														71			32		0	0	0.002836	0	0
DLG2	1740	broad.mit.edu	37	11	83673961	83673961	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:83673961G>A	uc001paj.2	-	8	1295	c.992C>T	c.(991-993)cCa>cTa	p.P331L	DLG2_uc001pai.2_Missense_Mutation_p.P280L|DLG2_uc010rsy.1_Missense_Mutation_p.P298L|DLG2_uc021qof.1_Missense_Mutation_p.P370L|DLG2_uc010rsz.1_Missense_Mutation_p.P331L|DLG2_uc010rta.1_Missense_Mutation_p.P331L|DLG2_uc001pak.2_Missense_Mutation_p.P436L|DLG2_uc010rtb.1_Missense_Mutation_p.P298L|DLG2_uc001pal.1_Missense_Mutation_p.P331L|DLG2_uc001pam.2_Missense_Mutation_p.P370L	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	331						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CATGTGCTTTGGAATTGGTGA	0.428000														49			36		0	0	0.005524	0	0
DEFB131	644414	broad.mit.edu	37	4	9452214	9452214	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:9452214G>A	uc011bwt.2	+	1	187	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K		NM_001040448	NP_001035538	P59861	DB131_HUMAN	Homo sapiens defensin, beta 131 (DEFB131), mRNA.	63					defense response to bacterium	extracellular region				lung(2)	2						GAAGATCATTGAAATTGACGG	0.363000														8			7		0	0	0.003080	0	0
OR51F1	256892	broad.mit.edu	37	11	4790995	4790995	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4790995G>A	uc010qyl.2	-	0	153	c.153C>T	c.(151-153)atC>atT	p.I51I		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	51						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GCTGGGTAATGATGACAAACA	0.463000														25			8		0	0	0.003080	0	0
CSMD3	114788	broad.mit.edu	37	8	113668412	113668412	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:113668412G>A	uc003ynu.3	-	17	3134	c.2975C>T	c.(2974-2976)tCc>tTc	p.S992F	CSMD3_uc003yns.3_Missense_Mutation_p.S264F|CSMD3_uc003ynt.3_Missense_Mutation_p.S952F|CSMD3_uc011lhx.2_Missense_Mutation_p.S888F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	992	CUB 5.					integral to membrane|plasma membrane		p.R991R(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACCATTATTGGAACGACTGTT	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				54			7		0	0	0.008291	0	0
RIC3	79608	broad.mit.edu	37	11	8132349	8132349	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:8132349C>T	uc010rbm.1	-	5	1144	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	RIC3_uc001mgb.2_Missense_Mutation_p.E174K|RIC3_uc010rbl.1_Missense_Mutation_p.E286K|RIC3_uc001mgd.2_Missense_Mutation_p.E336K|RIC3_uc001mgc.2_Missense_Mutation_p.E335K|RIC3_uc009yfm.2_Missense_Mutation_p.E255K|RIC3_uc001mge.2_Missense_Mutation_p.E154K|RIC3_uc009yfn.2_Missense_Mutation_p.E139K	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	336						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GACCACTCTTCTTTGGTGGTT	0.488000														93			19		0	0	0.008871	0	0
TTN	7273	broad.mit.edu	37	2	179592867	179592867	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179592867C>T	uc021vsy.1	-	63	16177	c.15952G>A	c.(15952-15954)Gat>Aat	p.D5318N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1979N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6245							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)			CTGCATGCATCATCTCCTGCT	0.383000														17			6		0	0	0.001984	0	0
EPHA3	2042	broad.mit.edu	37	3	89456471	89456471	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:89456471G>A	uc003dqy.3	+	7	1872	c.1647G>A	c.(1645-1647)gcG>gcA	p.A549A	EPHA3_uc021xbf.1_Silent_p.A549A	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	549						extracellular region|integral to plasma membrane	ATP binding	p.A549A(2)		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)		CCATTTCAGCGGCAGTAGCAA	0.398000										TSP Lung(6;0.00050)				27			26		0	0	0.002445	0	0
BTN2A2	10385	broad.mit.edu	37	6	26392647	26392647	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:26392647C>T	uc003nht.3	+	7	1157	c.1024C>T	c.(1024-1026)Ctg>Ttg	p.L342L	BTN2A2_uc003nhs.3_Intron|BTN2A2_uc003nhq.3_Silent_p.L342L|BTN2A2_uc003nhr.3_Silent_p.L226L|BTN2A2_uc011dkh.2_Silent_p.L132L|BTN2A2_uc011dkg.2_3'UTR|BTN2A2_uc011dki.1_3'UTR	NM_001197237	NP_001184166	Q8WVV5	BT2A2_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A2 (BTN2A2), transcript variant 3, mRNA.	342	B30.2/SPRY.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CGAGCTCTTCCTGTCAGAGGA	0.587000														49			22		0	0	0.001882	0	0
ACSL5	51703	broad.mit.edu	37	10	114172982	114172982	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:114172982C>T	uc001kzu.3	+	11	1280	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	ACSL5_uc001kzs.3_Missense_Mutation_p.R334W|ACSL5_uc001kzt.3_Missense_Mutation_p.R334W|ACSL5_uc009xxz.3_Missense_Mutation_p.R334W|ACSL5_uc010qrj.2_Missense_Mutation_p.R116W	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	334					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		AGGGGATATTCGGTTGCTGGC	0.468000														69			14		0	0	0.003163	0	0
CTNNA2	1496	broad.mit.edu	37	2	80816456	80816456	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:80816456G>A	uc010ysh.2	+	13	2040	c.2035G>A	c.(2035-2037)Gag>Aag	p.E679K	CTNNA2_uc010yse.2_Missense_Mutation_p.E679K|CTNNA2_uc010ysf.2_Missense_Mutation_p.E679K|CTNNA2_uc010ysg.2_Missense_Mutation_p.E679K|CTNNA2_uc010ysi.2_Missense_Mutation_p.E311K|CTNNA2_uc010ysj.2_Missense_Mutation_p.E8K	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	679					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ACCGCAGGAGGAGAAGGCAAA	0.498000														12			15		0	0	0.002450	0	0
HAL	3034	broad.mit.edu	37	12	96384198	96384198	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:96384198C>T	uc001tem.1	-	9	1125	c.828G>A	c.(826-828)ccG>ccA	p.P276P	HAL_uc010sux.1_Silent_p.P276P|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_Silent_p.P68P	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	276					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	p.P276P(2)		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)	AGCCACTCTTCGGAGACCACA	0.527000														30			51		0	0	0.003610	0	0
EPX	8288	broad.mit.edu	37	17	56271404	56271404	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:56271404C>T	uc002ivq.3	+	4	664	c.545C>T	c.(544-546)cCc>cTc	p.P182L		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	182					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CTGTCGCTCCCCTTCGGCTGG	0.627000														4			20		0	0	0.010504	0	0
GKN2	200504	broad.mit.edu	37	2	69173457	69173457	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:69173457C>A	uc002sfa.3	-	4	560	c.451G>T	c.(451-453)Ggg>Tgg	p.G151W	GKN2_uc002sfb.4_Missense_Mutation_p.G151W	NM_182536	NP_872342	Q86XP6	GKN2_HUMAN	Homo sapiens gastrokine 2 (GKN2), mRNA.	151	BRICHOS.					extracellular region		p.K150T(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						ACCACTTCCCCCTTATACAAA	0.453000														77			35		2.32173e-10	2.55758e-10	0.004878	1	0
EFEMP1	2202	broad.mit.edu	37	2	56104905	56104905	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:56104905C>T	uc002rzi.3	-	6	1237	c.736G>A	c.(736-738)Gca>Aca	p.A246T	EFEMP1_uc002rzj.3_Missense_Mutation_p.A246T|EFEMP1_uc010ypc.2_Intron	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	246	EGF-like 3; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTGTTTGCTGCCAATTGAAAC	0.438000														48			15		0	0	0.002450	0	0
TP53	7157	broad.mit.edu	37	17	7577070	7577070	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:7577070G>A	uc002gim.2	-	7	1062	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R290C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R158C|TP53_uc010cnf.1_Missense_Mutation_p.R158C|TP53_uc002gii.1_Missense_Mutation_p.R158C|TP53_uc010cni.1_Missense_Mutation_p.R290C|TP53_uc010cnh.1_Missense_Mutation_p.R290C|TP53_uc002gij.2_Missense_Mutation_p.R290C|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	290	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs55819519).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R290H(18)|p.N288fs*13(17)|p.0?(8)|p.R290C(6)|p.R290L(4)|p.R290fs*53(3)|p.R290fs*12(2)|p.R290fs*50(2)|p.R290fs*57(2)|p.R290fs*55(2)|p.T284_G293del10(2)|p.R290_P295>X(2)|p.?(2)|p.L265_K305del41(2)|p.R290R(2)|p.R290S(2)|p.V272_K292del21(2)|p.L289F(2)|p.L289L(2)|p.L289P(2)|p.K291fs*12(1)|p.E285fs*13(1)|p.N288fs*15(1)|p.E285_L289delEEENL(1)|p.L289fs*56(1)|p.L289V(1)|p.L289R(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTTCTTGCGGAGATTCTCT	0.567000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				17			17		0	0	0.006122	0	0
SLC17A4	10050	broad.mit.edu	37	6	25769408	25769408	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:25769408T>A	uc003nfe.3	+	2	406	c.287T>A	c.(286-288)tTt>tAt	p.F96Y	SLC17A4_uc011djx.2_Missense_Mutation_p.F96Y|SLC17A4_uc003nff.1_Missense_Mutation_p.F33Y|SLC17A4_uc003nfg.3_Missense_Mutation_p.F33Y	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	96					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTAAAAGAATTTAAAGCAATG	0.413000														15			16		0	0	0.003163	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704514	41704515	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:41704514_41704515CC>TT	uc002opw.3	+	3	696_697	c.641_642CC>TT	c.(640-642)tcc>tTT	p.S214F	CYP2S1_uc010xvx.2_Intron	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	214					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GGAGTCAGCTCCCAGGGGGGTC	0.614000														63			33		0	0	0.004672	0	0
PHACTR4	65979	broad.mit.edu	37	1	28785613	28785614	+	Missense_Mutation	DNP	AC	CT	CT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:28785613_28785614AC>CT	uc001bpy.3	+	1	299_300	c.64_65AC>CT	c.(64-66)act>CTt	p.T22L	PHACTR4_uc001bpu.3_Missense_Mutation_p.T12L|PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Missense_Mutation_p.T12L|PHACTR4_uc001bpx.3_5'UTR	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	12							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AGACCAGCCCACTACAGAGCCA	0.470000														34			8		0	0	0.004672	0	0
ZG16B	124220	broad.mit.edu	37	16	2882116	2882116	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:2882116C>T	uc002cru.3	+	3	659	c.583C>T	c.(583-585)Cca>Tca	p.P195S		NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN	Homo sapiens zymogen granule protein 16 homolog B (rat) (ZG16B), mRNA.	195						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CACTGAGCCACCAGTTAATCT	0.552000														44			38		0	0	0.006230	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60348291	60348291	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:60348291G>A	uc002izq.2	-	6	596	c.484C>T	c.(484-486)Cga>Tga	p.R162*	TBC1D3P2_uc010woz.2_Intron|DQ571391_uc010wpa.1_5'Flank|DQ581615_uc021ubf.1_5'Flank|DQ575686_uc021ubg.1_5'Flank|DQ580080_uc021ubh.1_5'Flank					Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						GTTCCGTATCGATCCCTGAAG	0.547000														59			83		0	0	0.003610	0	0
ASH1L	55870	broad.mit.edu	37	1	155448167	155448167	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:155448167G>A	uc009wqq.3	-	2	4974	c.4494C>T	c.(4492-4494)ccC>ccT	p.P1498P	ASH1L_uc001fkt.3_Silent_p.P1498P|ASH1L_uc009wqr.1_Silent_p.P1498P	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1498					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TAGAAACCTGGGGTTGTTCAG	0.493000														52			24		0	0	0.002780	0	0
ACAD9	28976	broad.mit.edu	37	3	128627105	128627105	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:128627105C>T	uc003ela.4	+	12	1558	c.1356C>T	c.(1354-1356)atC>atT	p.I452I	ACAD9_uc010hsw.1_Silent_p.I329I|ACAD9_uc011bks.2_Silent_p.I329I|ACAD9_uc003elb.3_Silent_p.I329I|ACAD9_uc003ele.3_Silent_p.I104I	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 9 (ACAD9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	452						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CTACCAGGATCCAGTAGGTGC	0.592000														60			25		0	0	0.003330	0	0
ACTC1	70	broad.mit.edu	37	15	35085505	35085505	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:35085505G>A	uc001ziu.1	-	2	638	c.395C>T	c.(394-396)cCt>cTt	p.P132L	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	132					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GTACATGGCAGGGACATTGAA	0.572000														56			8		0	0	0.008291	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171060	207171060	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:207171060G>A	uc002vbp.2	+	4	2058	c.1808G>A	c.(1807-1809)aGa>aAa	p.R603K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	603							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						GTCAAAGGAAGAAACCTGAAA	0.403000														37			9		0	0	0.004482	0	0
IARS	3376	broad.mit.edu	37	9	95050137	95050137	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:95050137A>C	uc004art.1	-	3	589	c.332T>G	c.(331-333)aTg>aGg	p.M111R	IARS_uc004ars.1_5'UTR|IARS_uc004aru.3_Missense_Mutation_p.M111R|IARS_uc010mqr.2_Missense_Mutation_p.M1R|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	111					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TGTAATCCCCATTTTGGCCAC	0.403000														22			14		0	0	0.004007	0	0
CFH	3075	broad.mit.edu	37	1	196694352	196694352	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196694352G>A	uc001gtj.4	+	11	2038	c.1798G>A	c.(1798-1800)Gga>Aga	p.G600R	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	600	Sushi 10.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTGCAAACCAGGATTTACAAT	0.398000														30			14		0	0	0.003163	0	0
COL4A3	1285	broad.mit.edu	37	2	228169791	228169791	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:228169791G>A	uc002vom.2	+	46	4406	c.4244G>A	c.(4243-4245)gGa>gAa	p.G1415E	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron|COL4A3_uc010fxf.2_5'Flank|COL4A3_uc021vxt.1_5'Flank	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1415	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGTTCTAAAGGAGAGCCAGGT	0.488000														18			8		0	0	0.004482	0	0
RFX6	222546	broad.mit.edu	37	6	117237412	117237412	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:117237412C>T	uc003pxm.3	+	8	970	c.907C>T	c.(907-909)Ctt>Ttt	p.L303F		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	303					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGACCATCTCCTTCCCCTGCT	0.348000														89			27		0	0	0.009535	0	0
ROBO2	6092	broad.mit.edu	37	3	77666843	77666843	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:77666843G>T	uc011bgk.2	+	22	4128	c.3485G>T	c.(3484-3486)cGg>cTg	p.R1162L	ROBO2_uc021xat.1_Missense_Mutation_p.R1174L|ROBO2_uc003dpy.4_Missense_Mutation_p.R1158L|ROBO2_uc003dpz.3_Missense_Mutation_p.R1162L|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Missense_Mutation_p.R285L	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1158					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)		CCATCCCCACGGGAAGAGATG	0.478000														57			18		2.54575e-18	2.81284e-18	0.010504	1	0
OVCH2	341277	broad.mit.edu	37	11	7721909	7721909	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:7721909C>T	uc010rbf.2	-	6	835	c.835G>A	c.(835-837)Gga>Aga	p.G279R		NM_198185	NP_937828			Homo sapiens ovochymase 2 (gene/pseudogene) (OVCH2), mRNA.											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		CCAGGGGATCCTTGATCACTT	0.507000														22			8		0	0	0.003080	0	0
TUB	7275	broad.mit.edu	37	11	8060477	8060477	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:8060477G>A	uc001mfy.3	+	0	298	c.57G>A	c.(55-57)ggG>ggA	p.G19G	TUB_uc010rbk.2_Intron	NM_003320	NP_003311	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 1, mRNA.	0					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CCGAGACAGGGATTTTGTTCC	0.567000														67			37		0	0	0.006230	0	0
XIST	7503	broad.mit.edu	37	X	73062296	73062296	+	RNA	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:73062296G>A	uc004ebm.1	-	0		c.10293C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CTTGTCCCCAGAATCTGACAA	0.413000														3			4		0	0	0.009096	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41058294	41058294	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:41058294G>A	uc003jmj.4	-	6	1117	c.627C>T	c.(625-627)atC>atT	p.I209I	HEATR7B2_uc003jmi.4_5'UTR|HEATR7B2_uc021xxt.1_Silent_p.I209I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	209							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						GGGCCTTAACGATGCTCAAAG	0.512000														12			7		0	0	0.003080	0	0
POTEH	23784	broad.mit.edu	37	22	16279198	16279199	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:16279198_16279199CC>AT	uc010gqp.2	-	3	1076_1077	c.1024_1025GG>AT	c.(1024-1026)gga>ATa	p.G342I	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Missense_Mutation_p.G61I|POTEH_uc002zlj.1_Missense_Mutation_p.G177I	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	342										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ACTATACCTTCCATATCTATCC	0.317000														204			16		0	0	0.004672	0	0
MUC17	140453	broad.mit.edu	37	7	100683951	100683951	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100683951C>T	uc003uxp.1	+	2	9307	c.9254C>T	c.(9253-9255)tCa>tTa	p.S3085L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3085	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S3084G(2)|p.S3085*(2)		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)					GAAGTCAGTTCATCTCCTACA	0.522000														185			66		0	0	0.003610	0	0
SLC38A1	81539	broad.mit.edu	37	12	46592514	46592514	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:46592514G>A	uc009zkj.1	-	13	1701	c.1016C>T	c.(1015-1017)tCc>tTc	p.S339F	SLC38A1_uc001rpb.3_Missense_Mutation_p.S339F|SLC38A1_uc001rpc.3_Missense_Mutation_p.S339F|SLC38A1_uc001rpd.3_Missense_Mutation_p.S339F|SLC38A1_uc001rpe.3_Missense_Mutation_p.S339F|SLC38A1_uc010slh.2_Missense_Mutation_p.S312F|SLC38A1_uc001rpa.3_Missense_Mutation_p.S339F	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	339					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AAGGAGGTCGGACTGCACGTT	0.408000														23			18		0	0	0.010504	0	0
LY9	4063	broad.mit.edu	37	1	160793421	160793421	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:160793421C>T	uc001fwu.3	+	7	1715	c.1665C>T	c.(1663-1665)ccC>ccT	p.P555P	LY9_uc001fwv.3_Silent_p.P541P|LY9_uc001fww.3_Silent_p.P465P|LY9_uc001fwy.1_Silent_p.P353P|LY9_uc001fwz.3_Silent_p.P193P	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	555					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGCACAAGCCCATCAGTGGAA	0.577000														67			36		0	0	0.003755	0	0
PSG2	5670	broad.mit.edu	37	19	43576076	43576076	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	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														115			18		0	0	0.008871	0	0
MST1P9	11223	broad.mit.edu	37	1	17085656	17085656	+	Nonsense_Mutation	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:17085656G>T	uc010ock.2	-	8	1065	c.1065C>A	c.(1063-1065)taC>taA	p.Y355*	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						CCGCGCCGTGGTAGCAGTCTG	0.711000														49			5		0.000602214	0.000657442	0.000602	1	0
OR5AS1	219447	broad.mit.edu	37	11	55798094	55798094	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55798094C>T	uc010riw.2	+	0	200	c.200C>T	c.(199-201)tCt>tTt	p.S67F		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					AGCAACTTATCTTTCTTAGAC	0.343000														35			12		0	0	0.000978	0	0
ASB13	79754	broad.mit.edu	37	10	5690985	5690986	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:5690985_5690986GT>AA	uc001iig.2	-	3	508_509	c.464_465AC>TT	c.(463-465)cac>cTT	p.H155L	ASB13_uc001iih.2_Non-coding_Transcript|ASB13_uc001iii.2_Non-coding_Transcript|ASB13_uc009xic.2_Missense_Mutation_p.H155L	NM_024701	NP_078977	Q8WXK3	ASB13_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 13 (ASB13), transcript variant 1, mRNA.	155					intracellular signal transduction		protein binding			NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		CACAGGCAACGTGCAGAGGGGT	0.540000														50			15		0	0	0.004672	0	0
USP26	83844	broad.mit.edu	37	X	132159894	132159894	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:132159894C>T	uc011mvf.2	-	0	2407	c.2355G>A	c.(2353-2355)agG>agA	p.R785R	USP26_uc010nrm.1_Silent_p.R785R	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	785					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GTAGGGAATTCCTGTTAGACT	0.398000														35			41		0	0	0.002852	0	0
NFASC	23114	broad.mit.edu	37	1	204943918	204943918	+	Nonsense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:204943918A>T	uc010prc.2	+	12	1755	c.226A>T	c.(226-228)Aaa>Taa	p.K76*	NFASC_uc001hbh.3_Nonsense_Mutation_p.K509*|NFASC_uc010pqz.2_Nonsense_Mutation_p.K503*|NFASC_uc001hbj.3_Nonsense_Mutation_p.K509*|NFASC_uc010pra.2_Nonsense_Mutation_p.K520*|NFASC_uc001hbi.3_Nonsense_Mutation_p.K520*|NFASC_uc010prb.2_Nonsense_Mutation_p.K520*|NFASC_uc001hbk.1_Nonsense_Mutation_p.K330*			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	509	Ig-like C2-type 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CATCCTGGGCAAAGCTGAAAA	0.527000														83			9		0	0	0.006214	0	0
TIMD4	91937	broad.mit.edu	37	5	156375506	156375506	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:156375506G>A	uc003lwh.2	-	4	822	c.765C>T	c.(763-765)tcC>tcT	p.S255S	TIMD4_uc010jii.2_Intron	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	255	Ser-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCCAAACTTTGGACTCTTTGG	0.433000														91			29		0	0	0.008361	0	0
ADORA3	140	broad.mit.edu	37	1	112026336	112026336	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:112026336C>T	uc001ebf.3	-	5	1784	c.1017G>A	c.(1015-1017)aaG>aaA	p.K339K	ADORA3_uc001ebg.4_Silent_p.K258K	NM_020683	NP_065734	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 1, mRNA.	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GAGCCATTTCCTTTGGAGTCA	0.428000														19			9		0	0	0.008291	0	0
LRCH4	4034	broad.mit.edu	37	7	100172796	100172796	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100172796G>A	uc003uvj.3	-	17	2039	c.1986C>T	c.(1984-1986)ttC>ttT	p.F662F	SAP25_uc003uvh.3_5'Flank|SAP25_uc022aip.1_5'Flank|LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc022aiq.1_5'Flank|LRCH4_uc011kjw.1_3'UTR	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	662					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)					AGAAGACGACGAAGCCGCCCA	0.682000														23			5		0	0	0.001168	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807820	15807820	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15807820G>A	uc002nbl.3	+	12	1619	c.1500G>A	c.(1498-1500)agG>agA	p.R500R		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)					AGCCCCGCAGGAAGCTGGAAT	0.597000														39			20		0	0	0.001882	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48585991	48585991	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:48585991T>C	uc010wmr.2	+	0	247	c.85T>C	c.(85-87)Tgg>Cgg	p.W29R	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	0					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TCGGTGTCTCTGGGCCGGCGG	0.647000														1			4		0	0	0.009096	0	0
TMEM37	140738	broad.mit.edu	37	2	120194518	120194518	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:120194518C>T	uc002tly.3	+	1	109	c.75C>T	c.(73-75)ttC>ttT	p.F25F		NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN	Homo sapiens transmembrane protein 37 (TMEM37), mRNA.	25						integral to membrane	calcium channel activity|voltage-gated ion channel activity	p.F25F(2)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TTGAATCCTTCATCCGGACCC	0.617000														45			22		0	0	0.002299	0	0
FLNA	2316	broad.mit.edu	37	X	153582370	153582370	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:153582370G>A	uc004fkk.2	-	34	5848	c.5599C>T	c.(5599-5601)Cat>Tat	p.H1867Y	FLNA_uc011mzn.1_Missense_Mutation_p.H58Y|FLNA_uc010nuu.1_Missense_Mutation_p.H1859Y	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1867					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGTGACATGGCCACAGTTG	0.572000											OREG0003596	type=REGULATORY REGION|Gene=BC028089|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		12			24		0	0	0.002780	0	0
SPEF2	79925	broad.mit.edu	37	5	35727893	35727893	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:35727893G>A	uc003jjo.3	+	20	3142	c.3031G>A	c.(3031-3033)Gaa>Aaa	p.E1011K	SPEF2_uc003jjp.1_Missense_Mutation_p.E497K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1011					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGGATCAGAAGAATGGGTCTA	0.428000														29			15		0	0	0.004990	0	0
DEPDC5	9681	broad.mit.edu	37	22	32215160	32215160	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:32215160C>T	uc011alu.2	+	21	2021	c.1819C>T	c.(1819-1821)Ccc>Tcc	p.P607S	DEPDC5_uc011als.2_Missense_Mutation_p.P607S|DEPDC5_uc003als.3_Missense_Mutation_p.P607S|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.P607S|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Missense_Mutation_p.P47S|DEPDC5_uc011alt.2_Missense_Mutation_p.P579S	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	607					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTCTCGGATGCCCATGAAGCT	0.542000														47			13		0	0	0.002450	0	0
PSD4	23550	broad.mit.edu	37	2	113950132	113950132	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:113950132C>T	uc002tjc.3	+	5	1987	c.1804C>T	c.(1804-1806)Cgg>Tgg	p.R602W	PSD4_uc002tjd.3_Missense_Mutation_p.R223W|PSD4_uc002tje.3_Missense_Mutation_p.R573W|PSD4_uc002tjf.3_Missense_Mutation_p.R223W	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	602	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.R602Q(1)|p.R602L(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAGGGCTTCCGGAAGTCTGA	0.597000														21			8		0	0	0.004482	0	0
HERPUD1	9709	broad.mit.edu	37	16	56976078	56976078	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:56976078C>T	uc002eke.1	+	6	1349	c.940C>T	c.(940-942)Ccg>Tcg	p.P314S	HERPUD1_uc002ekf.1_Missense_Mutation_p.P313S|HERPUD1_uc002ekg.1_Missense_Mutation_p.P289S|HERPUD1_uc010cco.1_Silent_p.G322G|HERPUD1_uc010ccp.1_Missense_Mutation_p.P216S|HERPUD1_uc002ekh.1_Missense_Mutation_p.P132S	NM_014685	NP_055500	Q15011	HERP1_HUMAN	Homo sapiens homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 (HERPUD1), transcript variant 1, mRNA.	314						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TAGACCGAGGCCGGTTCAGAA	0.483000			T	ERG	prostate									110			5		0	0	0.001984	0	0
CFHR1	3078	broad.mit.edu	37	1	196759217	196759217	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196759217G>A	uc001gtl.3	+	4	743	c.656G>A	c.(655-657)gGt>gAt	p.G219D	CFH_uc021pgt.1_Intron|CFHR1_uc010poy.2_Missense_Mutation_p.G158D|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	217	Sushi 4.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						ATTAGCAATGGTGATACCACC	0.383000														67			21		0	0	0.004656	0	0
PHKG1	5260	broad.mit.edu	37	7	56149359	56149359	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:56149359C>T	uc011kdb.1	-	9	1173	c.978G>A	c.(976-978)gaG>gaA	p.E326E	PSPH_uc003trj.3_Intron|PHKG1_uc003try.1_Silent_p.E188E|PHKG1_uc003trz.1_Silent_p.E294E|PHKG1_uc011kdc.1_Silent_p.E285E|PHKG1_uc011kdd.1_Silent_p.E240E	NM_006213	NP_006204	Q16816	PHKG1_HUMAN	Homo sapiens phosphorylase kinase, gamma 1 (muscle) (PHKG1), mRNA.	294	Calmodulin-binding (domain-N).				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCCGCACTTCCTCCACCAAGT	0.602000														44			8		0	0	0.003080	0	0
CRSP8P	441089	broad.mit.edu	37	5	79647680	79647680	+	RNA	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:79647680G>A	uc010jaj.1	-	0		c.106C>T								Homo sapiens mediator complex subunit 27 pseudogene (CRSP8P), non-coding RNA.																		TCAGGCAGTCGAACAACCTGC	0.582000														19			5		0	0	0.000602	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18807949	18807949	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:18807949C>T	uc001bax.3	+	0	526	c.474C>T	c.(472-474)ttC>ttT	p.F158F	KLHDC7A_uc009vpg.3_5'UTR	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	158						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCCCATTTCCCCCGCTTGG	0.647000														33			16		0	0	0.006122	0	0
NANS	54187	broad.mit.edu	37	9	100843246	100843246	+	Missense_Mutation	SNP	C	T	T	rs117325934	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:100843246C>T	uc004ayc.3	+	4	884	c.752C>T	c.(751-753)tCg>tTg	p.S251L	TRIM14_uc004ayd.2_Intron|NANS_uc004aye.1_Missense_Mutation_p.S99L	NM_018946	NP_061819	Q9NR45	SIAS_HUMAN	Homo sapiens N-acetylneuraminic acid synthase (NANS), mRNA.	251					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				AGTGACCACTCGGCCTCGCTG	0.617000														21			16		0	0	0.004007	0	0
CYP2C19	1557	broad.mit.edu	37	10	96484114	96484114	+	Nonsense_Mutation	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:96484114G>T	uc001kjv.4	+	6	1299	c.973G>T	c.(973-975)Gaa>Taa	p.E325*	CYP2C19_uc001kjw.4_Nonsense_Mutation_p.E266*|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	325					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.Q324R(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)	TAAAGTCCAGGAAGAGATTGA	0.453000														46			10		2.80697e-09	3.08688e-09	0.000978	1	0
KCNQ3	3786	broad.mit.edu	37	8	133141540	133141540	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:133141540G>A	uc003ytj.3	-	14	2813	c.2588C>T	c.(2587-2589)tCa>tTa	p.S863L	KCNQ3_uc003yti.3_Missense_Mutation_p.S743L|KCNQ3_uc010mdt.3_Missense_Mutation_p.S851L	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	863					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGTCCATACTGAATCAGAAAT	0.532000														43			11		0	0	0.001368	0	0
SLC7A11	23657	broad.mit.edu	37	4	139163186	139163186	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:139163186C>T	uc021xrw.1	-	0	318	c.38G>A	c.(37-39)gGa>gAa	p.G13E		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	13					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	CAGGTAACCTCCTTTGGAGAT	0.488000														10			8		0	0	0.004482	0	0
OR2W3	343171	broad.mit.edu	37	1	248058927	248058927	+	Silent	SNP	C	T	T	rs118132111	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248058927C>T	uc010pzb.2	+	0	39	c.39C>T	c.(37-39)atC>atT	p.I13I	OR2W3_uc001idp.1_Silent_p.I13I	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCCATTTCATCCTACTGGGAT	0.473000														37			6		0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9074665	9074665	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9074665G>A	uc002mkp.3	-	2	12985	c.12781C>T	c.(12781-12783)Cct>Tct	p.P4261S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4263	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P4261H(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTGGGATAGGAGAATATTCA	0.473000														58			24		0	0	0.004656	0	0
KLHDC3	116138	broad.mit.edu	37	6	42985014	42985014	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:42985014C>T	uc003otl.3	+	1	389	c.84C>T	c.(82-84)tcC>tcT	p.S28S	KLHDC3_uc003otn.3_5'UTR|KLHDC3_uc003otm.3_Non-coding_Transcript|KLHDC3_uc021yzr.1_Intron|KLHDC3_uc003oto.3_Silent_p.S28S	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	Homo sapiens kelch domain containing 3 (KLHDC3), transcript variant 1, mRNA.	28					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGTATACTCCTTCGGGGGTT	0.587000														82			41		0	0	0.008740	0	0
RP1L1	94137	broad.mit.edu	37	8	10468882	10468882	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:10468882C>T	uc003wtc.3	-	3	2955	c.2726G>A	c.(2725-2727)aGg>aAg	p.R909K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	909					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACTGCTTCTCCTTGATGCCCC	0.711000														14			3		0	0	0.004672	0	0
LYZL6	57151	broad.mit.edu	37	17	34264881	34264881	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:34264881G>A	uc002hkj.2	-	1	379	c.179C>T	c.(178-180)tCa>tTa	p.S60L	LYZL6_uc002hkk.2_Missense_Mutation_p.S60L	NM_020426	NP_065159	O75951	LYZL6_HUMAN	Homo sapiens lysozyme-like 6 (LYZL6), transcript variant 2, mRNA.	60					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATTTATCTTTGATATGTTGAA	0.443000														18			39		0	0	0.006999	0	0
YEATS2	55689	broad.mit.edu	37	3	183469889	183469889	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:183469889C>T	uc003fly.2	+	9	1193	c.998C>T	c.(997-999)tCt>tTt	p.S333F		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	333					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CATCGCCATTCTCTCGGAGAA	0.493000														78			40		0	0	0.003214	0	0
WEE1	7465	broad.mit.edu	37	11	9606822	9606822	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:9606822C>T	uc001mhs.3	+	6	1559	c.1306C>T	c.(1306-1308)Cga>Tga	p.R436*	WEE1_uc001mht.3_Nonsense_Mutation_p.R222*	NM_003390	NP_001137448	P30291	WEE1_HUMAN	Homo sapiens WEE1 homolog (S. pombe) (WEE1), transcript variant 1, mRNA.	436	Protein kinase.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|blood coagulation|cell cycle checkpoint|cell division|mitosis	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TTTCATATCTCGAACCTCAAT	0.328000														46			12		0	0	0.001368	0	0
SULF1	23213	broad.mit.edu	37	8	70501326	70501327	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:70501326_70501327GG>AT	uc003xyg.2	+	6	1245_1246	c.684_685GG>AT	c.(682-687)gaggac>gaATac	p.D229Y	SULF1_uc010lza.1_Missense_Mutation_p.D229Y|SULF1_uc003xyd.2_Missense_Mutation_p.D229Y|SULF1_uc003xye.2_Missense_Mutation_p.D229Y|SULF1_uc003xyf.2_Missense_Mutation_p.D229Y	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	229					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ACGGCCCCGAGGACTCAGCCCC	0.490000														22			7		0	0	0.004672	0	0
ANO2	57101	broad.mit.edu	37	12	5963220	5963220	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:5963220G>A	uc001qnm.2	-	3	682	c.610C>T	c.(610-612)Cct>Tct	p.P204S	ANO2_uc021qtt.1_Missense_Mutation_p.P208S	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	208						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TTCTTGGTAGGAACTTTGATC	0.507000														68			83		0	0	0.003610	0	0
TRAT1	50852	broad.mit.edu	37	3	108568080	108568080	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:108568080G>A	uc003dxi.1	+	4	426	c.282G>A	c.(280-282)caG>caA	p.Q94Q	TRAT1_uc010hpx.1_Silent_p.Q57Q	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	94					T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						ATAAGATGCAGGAAGCCACCC	0.368000														34			12		0	0	0.001368	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140812029	140812029	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140812029C>T	uc003lkt.2	+	0	1872	c.1703C>T	c.(1702-1704)cCc>cTc	p.P568L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.P568L	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	570					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)			CCCGCCCTCCCCACGGACGGT	0.677000														81			24		0	0	0.003330	0	0
ZYG11B	79699	broad.mit.edu	37	1	53282222	53282222	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:53282222C>T	uc001cuj.3	+	12	2160	c.1965C>T	c.(1963-1965)ttC>ttT	p.F655F	ZYG11B_uc009vzg.3_Non-coding_Transcript|ZYG11B_uc010onj.2_Silent_p.F576F|ZYG11B_uc009vzh.3_Silent_p.F77F	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	Homo sapiens zyg-11 homolog B (C. elegans) (ZYG11B), mRNA.	655							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						ATCCATTTTTCCCATTACTTG	0.373000														95			42		0	0	0.003610	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42907894	42907894	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:42907894G>A	uc010zwl.2	+	5	1182	c.1115G>A	c.(1114-1116)gGg>gAg	p.G372E	GDAP1L1_uc002xlq.3_Missense_Mutation_p.G353E|GDAP1L1_uc010zwm.2_Missense_Mutation_p.G295E|GDAP1L1_uc010zwn.2_Missense_Mutation_p.G161E	NM_024034	NP_076939	Q96MZ0	GD1L1_HUMAN	Homo sapiens ganglioside-induced differentiation-associated protein 1-like 1 (GDAP1L1), mRNA.	353										endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCCCTGGGTGGGATGGGCTAC	0.577000														84			51		0	0	0.003610	0	0
NEFH	4744	broad.mit.edu	37	22	29886023	29886024	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:29886023_29886024GG>AA	uc003afo.3	+	3	2465_2466	c.2394_2395GG>AA	c.(2392-2397)aaggcg>aaAAcg	p.A799T	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	805	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCCCAGAGAAGGCGAAATCTCC	0.554000														15			15		0	0	0.004672	0	0
MRGPRD	116512	broad.mit.edu	37	11	68747504	68747504	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:68747504C>T	uc010rqf.2	-	0	952	c.952G>A	c.(952-954)Gag>Aag	p.E318K		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	Homo sapiens MAS-related GPR, member D (MRGPRD), mRNA.	318						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCCCCATCTCATTGGTGCCC	0.687000														41			25		0	0	0.003954	0	0
OR10A4	283297	broad.mit.edu	37	11	6897966	6897966	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:6897966C>T	uc010rat.2	+	0	111	c.88C>T	c.(88-90)Ctc>Ttc	p.L30F		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L30L(1)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTACTGTTTCTCCTTTTCTT	0.443000														79			48		0	0	0.003610	0	0
COL11A2	1302	broad.mit.edu	37	6	33132116	33132116	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:33132116G>A	uc003ocx.1	-	64	5226	c.4998C>T	c.(4996-4998)ctC>ctT	p.L1666L	COL11A2_uc010jul.1_Silent_p.L236L|COL11A2_uc003ocy.1_Silent_p.L1580L|COL11A2_uc003ocz.1_Silent_p.L1559L	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1666	Fibrillar collagen NC1.				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						TGGCCCCACGGAGTCTCAGGG	0.627000														20			13		0	0	0.002450	0	0
LRP1B	53353	broad.mit.edu	37	2	141093194	141093194	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:141093194G>A	uc002tvj.1	-	77	13078	c.12106C>T	c.(12106-12108)Cct>Tct	p.P4036S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4036					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.P4036S(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTCTTTTAGGATTTACTGCA	0.383000										TSP Lung(27;0.18)				62			33		0	0	0.002445	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139908732	139908732	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:139908732C>T	uc003lfs.2	+	28	6355	c.6201C>T	c.(6199-6201)tcC>tcT	p.S2067S	ANKHD1-EIF4EBP3_uc003lfr.3_Silent_p.S2067S|ANKHD1-EIF4EBP3_uc011czh.1_Silent_p.S806S|ANKHD1-EIF4EBP3_uc003lfw.3_Silent_p.S705S|ANKHD1-EIF4EBP3_uc010jfl.3_Silent_p.S502S|ANKHD1-EIF4EBP3_uc003lfx.1_Silent_p.S204S	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	2067						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACCCATCCAGTAGTCCCA	0.507000														73			5		0	0	0.000602	0	0
PCLO	27445	broad.mit.edu	37	7	82582368	82582368	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82582368G>A	uc003uhx.2	-	4	8190	c.7901C>T	c.(7900-7902)tCt>tTt	p.S2634F	PCLO_uc003uhv.2_Missense_Mutation_p.S2634F|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2565					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						CTGTTCTGAAGAAATTGGAAT	0.453000														54			33		0	0	0.003271	0	0
GBA3	57733	broad.mit.edu	37	4	22737782	22737782	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:22737782C>T	uc003gqp.4	+	1	328	c.237C>T	c.(235-237)tcC>tcT	p.S79S	GBA3_uc010iep.3_Silent_p.S79S|GBA3_uc011bxo.2_Silent_p.S80S	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	79					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	p.L78P(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCTCTCTTTCCTGGTCACGTC	0.438000														49			56		0	0	0.003610	0	0
COL9A1	1297	broad.mit.edu	37	6	71004099	71004099	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:71004099G>A	uc003pfg.4	-	4	626	c.467C>T	c.(466-468)tCa>tTa	p.S156L		NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	156	Nonhelical region (NC4).|TSP N-terminal.				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						TCCCTTGTATGAAAATACAAC	0.433000														52			37		0	0	0.005524	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140712378	140712378	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140712378C>T	uc003lji.2	+	0	2127	c.2127C>T	c.(2125-2127)atC>atT	p.I709I	PCDHGC5_uc011dan.2_Silent_p.I709I	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	710					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)			CCTTCGTCATCGTGCTGCTGG	0.667000														53			18		0	0	0.006122	0	0
BAG3	9531	broad.mit.edu	37	10	121429480	121429480	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:121429480C>T	uc001lem.3	+	1	604	c.298C>T	c.(298-300)Cat>Tat	p.H100Y	BAG3_uc001lel.3_Missense_Mutation_p.H100Y	NM_004281	NP_004272	O95817	BAG3_HUMAN	Homo sapiens BCL2-associated athanogene 3 (BAG3), mRNA.	100					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)		TCCTGTGCTCCATGAAGGCGC	0.637000														77			24		0	0	0.005443	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102516140	102516140	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:102516140C>T	uc001yks.2	+	75	13769	c.13605C>T	c.(13603-13605)tcC>tcT	p.S4535S		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	4535					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						ACAGCTGGTCCCTGGAGGAGC	0.607000														16			26		0	0	0.004656	0	0
NOX5	79400	broad.mit.edu	37	15	69325563	69325563	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:69325563C>T	uc002ars.2	+	4	842	c.801C>T	c.(799-801)gtC>gtT	p.V267V	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.V221V|NOX5_uc002arp.2_Silent_p.V249V|NOX5_uc010bid.2_Silent_p.V232V|NOX5_uc010bie.2_Silent_p.V67V|NOX5_uc002arr.2_Silent_p.V239V|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	267					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCGCCAGCGTCATGGTGGCCA	0.647000														20			6		0	0	0.001984	0	0
CILP2	148113	broad.mit.edu	37	19	19656520	19656520	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:19656520G>A	uc002nmw.4	+	7	3269	c.3184G>A	c.(3184-3186)Ggc>Agc	p.G1062S	CILP2_uc002nmv.4_Missense_Mutation_p.G1056S	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	1056						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AGACCCTCTGGGCCACAACTA	0.637000														20			4		0	0	0.000602	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183119	167183119	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:167183119G>A	uc003fes.1	-	4	842	c.771C>T	c.(769-771)agC>agT	p.S257S	SERPINI2_uc003fer.1_Silent_p.S247S|SERPINI2_uc003fet.1_Silent_p.S247S	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	247					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TGATAATTAAGCTAAATTCAT	0.318000														61			29		0	0	0.008361	0	0
WASF3	10810	broad.mit.edu	37	13	27216450	27216450	+	Silent	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:27216450C>A	uc001uqv.3	+	2	268	c.43C>A	c.(43-45)Cgg>Agg	p.R15R	WASF3_uc001uqw.3_Silent_p.R15R	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	15					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GCACTTGTGCCGGGGAGCTCT	0.448000														51			23		4.72057e-08	5.18447e-08	0.003954	1	0
CACNA1E	777	broad.mit.edu	37	1	181695218	181695218	+	Silent	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:181695218A>G	uc009wxt.3	+	17	2355	c.2160A>G	c.(2158-2160)gaA>gaG	p.E720E	CACNA1E_uc001gow.3_Silent_p.E720E|CACNA1E_uc009wxs.3_Silent_p.E720E	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	720	Poly-Glu.				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						AGGAGGAAGAAGAGGCCTTCA	0.552000														17			5		0	0	0.001984	0	0
CLIC6	54102	broad.mit.edu	37	21	36081660	36081660	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:36081660G>A	uc010gmt.1	+	5	1777	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	CLIC6_uc002yuf.1_Missense_Mutation_p.E575K	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	Homo sapiens chloride intracellular channel 6 (CLIC6), nuclear gene encoding mitochondrial protein, mRNA.	593	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TTTAGTTCATGAAAAGAACCT	0.458000														37			9		0	0	0.004482	0	0
KDM3A	55818	broad.mit.edu	37	2	86709633	86709633	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:86709633C>T	uc002sri.4	+	17	3065	c.2738C>T	c.(2737-2739)tCt>tTt	p.S913F	KDM3A_uc010ytj.2_Missense_Mutation_p.S913F|KDM3A_uc010ytk.2_Missense_Mutation_p.S861F	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA.	913					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						ATCTTTGCCTCTTTGGTGCAA	0.403000														74			10		0	0	0.000978	0	0
ACSM5	54988	broad.mit.edu	37	16	20451727	20451727	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:20451727G>A	uc002dhe.3	+	13	1865	c.1718G>A	c.(1717-1719)cGa>cAa	p.R573Q		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	573					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						AGTAAATTGCGAAGTCAGGAG	0.488000														31			6		0	0	0.000978	0	0
COL12A1	1303	broad.mit.edu	37	6	75857400	75857400	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:75857400C>T	uc021zbv.1	-	21	4443	c.4408G>A	c.(4408-4410)Gaa>Aaa	p.E1470K	COL12A1_uc021zbw.1_Missense_Mutation_p.E306K|COL12A1_uc003phs.3_Missense_Mutation_p.E1470K|COL12A1_uc003pht.3_Missense_Mutation_p.E306K	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1470	Fibronectin type-III 9.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGGTTTTTTCTGTCCCCTTC	0.363000														83			13		0	0	0.002450	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060385	35060385	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:35060385C>T	uc002xff.3	+	2	700	c.265C>T	c.(265-267)Ccc>Tcc	p.P89S	DLGAP4_uc010zvp.2_Missense_Mutation_p.P89S	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	89					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GAGCCCCTTCCCCAGCCATGC	0.627000														30			16		0	0	0.003163	0	0
ANGPT1	284	broad.mit.edu	37	8	108306175	108306176	+	Nonsense_Mutation	DNP	CC	AT	AT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:108306175_108306176CC>AT	uc003ymn.3	-	5	1494_1495	c.1026_1027GG>AT	c.(1024-1029)aaggaa>aaATaa	p.E343*	ANGPT1_uc011lhv.2_Nonsense_Mutation_p.E143*|ANGPT1_uc003ymo.3_Nonsense_Mutation_p.E342*|ANGPT1_uc003ymp.4_Nonsense_Mutation_p.E142*	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	343	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			ATTTTATATTCCTTCCAGCCTC	0.361000														47			22		0	0	0.004672	0	0
COL7A1	1294	broad.mit.edu	37	3	48629344	48629344	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:48629344C>T	uc003ctz.2	-	9	1345	c.1344G>A	c.(1342-1344)tgG>tgA	p.W448*		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	448	Fibronectin type-III 3.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.W448R(1)		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)		TCTCACGCCGCCATTCCAACC	0.627000														72			28		0	0	0.009535	0	0
CCDC88C	440193	broad.mit.edu	37	14	91760555	91760556	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:91760555_91760556CT>TA	uc010aty.3	-	22	4227_4228	c.4073_4074AG>TA	c.(4072-4074)gag>gTA	p.E1358V		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1358					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCTCCTTGTTCTCCATGTTCTG	0.545000														86			56		0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9019338	9019338	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9019338G>A	uc002mkp.3	-	22	37753	c.37549C>T	c.(37549-37551)Cct>Tct	p.P12517S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12519					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						GAGGTCCCAGGAGCTGAGAAA	0.483000														18			13		0	0	0.004007	0	0
OR8I2	120586	broad.mit.edu	37	11	55861551	55861551	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55861551C>T	uc010rix.2	+	0	768	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CTCTGATTTTCACCTATTTGC	0.498000														73			22		0	0	0.002780	0	0
TP63	8626	broad.mit.edu	37	3	189587118	189587118	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:189587118C>T	uc003fry.2	+	8	1224	c.1135C>T	c.(1135-1137)Cgt>Tgt	p.R379C	TP63_uc003frx.2_Missense_Mutation_p.R379C|TP63_uc003frz.2_Missense_Mutation_p.R379C|TP63_uc010hzc.1_Missense_Mutation_p.R379C|TP63_uc003fsa.2_Missense_Mutation_p.R285C|TP63_uc003fsb.2_Missense_Mutation_p.R285C|TP63_uc003fsc.2_Missense_Mutation_p.R285C|TP63_uc003fsd.2_Missense_Mutation_p.R285C|TP63_uc021xir.1_Missense_Mutation_p.R285C|TP63_uc010hzd.1_Missense_Mutation_p.R200C|TP63_uc003fse.1_Missense_Mutation_p.R256C	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	379	Interaction with HIPK2.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R379C(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACCAGCGTTTCGTCAGAACAC	0.363000										HNSCC(45;0.13)				33			7		0	0	0.006214	0	0
SUGP1	57794	broad.mit.edu	37	19	19420913	19420913	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:19420913G>A	uc002nmh.3	-	2	319	c.303C>T	c.(301-303)acC>acT	p.T101T	SUGP1_uc002nmi.3_5'UTR|SUGP1_uc002nmj.3_Intron|SUGP1_uc010xqr.2_Non-coding_Transcript|SUGP1_uc010xqs.2_Non-coding_Transcript	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	Homo sapiens SURP and G patch domain containing 1 (SUGP1), mRNA.	101					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CACCTGTGCTGGTCTGTGCCT	0.527000														29			15		0	0	0.003163	0	0
GPX5	2880	broad.mit.edu	37	6	28501788	28501788	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:28501788C>T	uc003nll.2	+	4	512	c.510C>T	c.(508-510)tcC>tcT	p.S170S	GPX5_uc003nlm.2_3'UTR|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	170					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	AATCTATATCCTGGGACCCTG	0.493000														122			53		0	0	0.003610	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151140886	151140886	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:151140886C>T	uc011eem.1	+	11	1649	c.1561C>T	c.(1561-1563)Cca>Tca	p.P521S	PLEKHG1_uc011eel.1_Missense_Mutation_p.P502S|PLEKHG1_uc003qny.1_Missense_Mutation_p.P462S|PLEKHG1_uc003qnz.2_Missense_Mutation_p.P462S	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	462					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AGGTTCTGCTCCATATCGGCT	0.438000														66			43		0	0	0.002852	0	0
C6orf10	10665	broad.mit.edu	37	6	32261670	32261670	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:32261670C>T	uc021yvt.1	-	22	953	c.780G>A	c.(778-780)acG>acA	p.T260T	C6orf10_uc011dpx.2_Silent_p.T251T|C6orf10_uc021yvs.1_Silent_p.T177T|C6orf10_uc011dpz.2_Silent_p.T258T|C6orf10_uc021yvu.1_Silent_p.T258T|C6orf10_uc021yvv.1_Silent_p.T244T	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	260						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CTACAGAATTCGTAAATATGA	0.393000														81			36		0	0	0.003271	0	0
FRMPD1	22844	broad.mit.edu	37	9	37745262	37745262	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:37745262C>T	uc004aag.1	+	15	3277	c.3233C>T	c.(3232-3234)cCt>cTt	p.P1078L	FRMPD1_uc004aah.1_Missense_Mutation_p.P1078L	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	1078						cytoskeleton|cytosol|plasma membrane		p.S1077C(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TTGTTGTCTCCTAGAGATGAG	0.428000														60			15		0	0	0.004007	0	0
IGSF10	285313	broad.mit.edu	37	3	151166168	151166168	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:151166168C>T	uc011bod.2	-	3	1601	c.1601G>A	c.(1600-1602)gGa>gAa	p.G534E		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	534	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)			TTCCAATTTTCCACTTTTGTC	0.443000														128			26		0	0	0.002096	0	0
ACSL5	51703	broad.mit.edu	37	10	114169281	114169281	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:114169281G>A	uc001kzu.3	+	6	829	c.717G>A	c.(715-717)gtG>gtA	p.V239V	ACSL5_uc001kzs.3_Silent_p.V183V|ACSL5_uc001kzt.3_Silent_p.V183V|ACSL5_uc009xxz.3_Silent_p.V183V|ACSL5_uc010qrj.2_5'UTR	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	183					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TCGCCATGGTGATCTGTGACA	0.478000														74			17		0	0	0.010504	0	0
XCR1	2829	broad.mit.edu	37	3	46063217	46063217	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:46063217G>A	uc003cpe.3	-	2	447	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F	AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Missense_Mutation_p.L75F|XCR1_uc021wwx.1_Missense_Mutation_p.L75F	NM_005283	NP_005274	P46094	XCR1_HUMAN	Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA.	75					G-protein signaling, coupled to cyclic nucleotide second messenger|chemotaxis|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGGTCTGAGAGGCACAGGTTG	0.557000														23			17		0	0	0.004007	0	0
NALCN	259232	broad.mit.edu	37	13	101717769	101717769	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:101717769G>A	uc001vox.1	-	39	4780	c.4591C>T	c.(4591-4593)Cat>Tat	p.H1531Y		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1531						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGGACATCATGGAAGGTGACG	0.557000														47			37		0	0	0.006999	0	0
GCM2	9247	broad.mit.edu	37	6	10876690	10876690	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:10876690C>T	uc003mzn.4	-	2	516	c.444G>A	c.(442-444)gcG>gcA	p.A148A	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	148					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GAAAAAAGATCGCGTTGCCAT	0.498000														38			13		0	0	0.001855	0	0
USP7	7874	broad.mit.edu	37	16	8990881	8990881	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:8990881C>A	uc002czl.2	-	25	2993	c.2794G>T	c.(2794-2796)Ggg>Tgg	p.G932W	USP7_uc010uyk.1_Missense_Mutation_p.G833W|USP7_uc010uyj.1_Missense_Mutation_p.G833W|USP7_uc002czk.2_Missense_Mutation_p.G916W	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	932					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GCTTTCTCCCCAAGCTCCACG	0.448000														145			26		3.73148e-12	4.11596e-12	0.007291	1	0
SPATA16	83893	broad.mit.edu	37	3	172631501	172631501	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:172631501G>A	uc003fin.4	-	9	1721	c.1537C>T	c.(1537-1539)Ctt>Ttt	p.L513F		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	513					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	p.T512T(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTTCCTTCAAGGGTGTCCATA	0.358000														41			10		0	0	0.001368	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113328	117113328	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:117113328G>A	uc003pxj.1	-	5	2780	c.2758C>T	c.(2758-2760)Cga>Tga	p.R920*	GPRC6A_uc003pxk.1_Nonsense_Mutation_p.R745*|GPRC6A_uc003pxl.1_Nonsense_Mutation_p.R849*	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	920					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)		ATTCTTTTTCGAGGCAAAGTT	0.388000														109			27		0	0	0.009535	0	0
PDE1B	5153	broad.mit.edu	37	12	54943669	54943669	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:54943669C>T	uc001sgd.2	+	1	406	c.13C>T	c.(13-15)Ccc>Tcc	p.P5S	PDE1B_uc010soz.2_5'UTR|PDE1B_uc010spa.1_5'Flank	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	5					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.S4Y(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						GGAGCTGTCCCCCCGCAGTCC	0.622000														20			16		0	0	0.006122	0	0
CD2	914	broad.mit.edu	37	1	117297327	117297327	+	Missense_Mutation	SNP	C	T	T	rs142374557	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:117297327C>T	uc001egu.4	+	1	165	c.136C>T	c.(136-138)Cct>Tct	p.P46S	CD2_uc010owz.1_Missense_Mutation_p.P46S|CD2_uc010oxa.1_Missense_Mutation_p.P46S	NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	46	Ig-like V-type.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CTTGGACATTCCTAGTTTTCA	0.378000														39			21		0	0	0.002299	0	0
DSCAM	1826	broad.mit.edu	37	21	41452104	41452104	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:41452104G>A	uc002yyq.1	-	24	4847	c.4395C>T	c.(4393-4395)atC>atT	p.I1465I	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.	1465	Fibronectin type-III 5.				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)				TTGCTTCTATGATTTCACTTA	0.443000														32			48		0	0	0.003610	0	0
STARD4	134429	broad.mit.edu	37	5	110835597	110835597	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:110835597C>T	uc003kph.1	-	5	689	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	STARD4_uc010jbw.1_Missense_Mutation_p.R104Q|STARD4_uc010jbx.1_Missense_Mutation_p.R104Q|STARD4_uc003kpi.1_Non-coding_Transcript	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 4 (STARD4), mRNA.	202	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TAAAGCTTTTCGTAAATCACC	0.403000														31			8		0	0	0.003080	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658536	72658536	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:72658536C>T	uc003txs.1	-	12	1376	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		ctgattttttcacgtaacttc	0.458000														31			8		0	0	0.003163	0	0
SYNGR2	9144	broad.mit.edu	37	17	76166954	76166954	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:76166954C>G	uc002jut.3	+	1	183	c.156C>G	c.(154-156)caC>caG	p.H52Q	SYNGR2_uc002juu.1_Missense_Mutation_p.H52Q			O43760	SNG2_HUMAN	Homo sapiens synaptogyrin 2 (SYNGR2), mRNA.	52	MARVEL.					integral to plasma membrane				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			GCAATGCCCACGAGTCTAAGC	0.617000														55			88		0	0	0.003610	0	0
OR4P4	81300	broad.mit.edu	37	11	55405880	55405880	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55405880C>T	uc010rij.2	+	0	47	c.47C>T	c.(46-48)tCc>tTc	p.S16F		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F15fs*29(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TTGGGGTTTTCCCAAAATAAG	0.328000														143			11		0	0	0.002450	0	0
MGAM	8972	broad.mit.edu	37	7	141740542	141740542	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:141740542G>A	uc003vwy.3	+	20	2448	c.2394G>A	c.(2392-2394)agG>agA	p.R798R		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	798	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)	TGAGATGGAGGAAGCAAAAAG	0.468000														22			5		0	0	0.000602	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12920100	12920100	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:12920100C>T	uc001aum.1	+	2	927	c.840C>T	c.(838-840)ttC>ttT	p.F280F		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	280										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCTTCTTCAGTGGGCACC	0.458000														79			39		0	0	0.008740	0	0
MICAL1	64780	broad.mit.edu	37	6	109769147	109769148	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:109769147_109769148GG>AA	uc011eaq.2	-	13	2222_2223	c.1931_1932CC>TT	c.(1930-1932)tcc>tTT	p.S644F	MICAL1_uc003ptj.3_Missense_Mutation_p.S625F|MICAL1_uc003ptk.3_Missense_Mutation_p.S625F|MICAL1_uc010kdr.3_Missense_Mutation_p.S539F	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	625					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AGGTCCCTGGGGAGGCCTGGCT	0.594000														38			10		0	0	0.004672	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27539056	27539056	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:27539056C>T	uc001its.2	-	0	2180	c.337G>A	c.(337-339)Gat>Aat	p.D113N						Homo sapiens leucine rich repeat containing 37, member A family pseudogene (LOC387646), non-coding RNA.																		GGTTCTACATCATTACCTGGT	0.542000														31			8		0	0	0.004482	0	0
GPR101	83550	broad.mit.edu	37	X	136112786	136112786	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:136112786C>T	uc011mwh.2	-	0	1048	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K		NM_054021	NP_473362	Q96P66	GP101_HUMAN	Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.	350						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					ATGTCATCTTCACCCAAGTCA	0.532000														39			75		0	0	0.003610	0	0
MYH2	4620	broad.mit.edu	37	17	10432014	10432014	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10432014T>C	uc010coi.3	-	26	3865	c.3737A>G	c.(3736-3738)aAa>aGa	p.K1246R	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.K1246R|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.	1246					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						TACCTTGGCTTTGGAGACCGT	0.398000														59			13		0	0	0.004007	0	0
DSG4	147409	broad.mit.edu	37	18	28986274	28986274	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:28986274C>T	uc002kwr.2	+	11	2006	c.1871C>T	c.(1870-1872)tCa>tTa	p.S624L	DSG4_uc002kwq.2_Missense_Mutation_p.S624L	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	624					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCTGGAGTTTCAAATGTTGGT	0.478000														63			14		0	0	0.003163	0	0
ZPLD1	131368	broad.mit.edu	37	3	102153984	102153984	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:102153984G>A	uc003dvt.1	+	0	126	c.26G>A	c.(25-27)aGg>aAg	p.R9K	ZPLD1_uc003dvs.1_Intron|ZPLD1_uc011bhg.1_5'UTR	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	0						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TCCATGTGCAGGGGAAATGAT	0.363000														23			10		0	0	0.000978	0	0
HIP1	3092	broad.mit.edu	37	7	75186992	75186992	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:75186992G>A	uc003uds.2	-	15	1592	c.1547C>T	c.(1546-1548)tCg>tTg	p.S516L	HIP1_uc011kfz.2_Missense_Mutation_p.S516L	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	516					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	p.S516L(2)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCGCTCCAACGAATCCTCCAG	0.557000			T	PDGFRB	CMML									60			44		0	0	0.008740	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290982	141290982	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:141290982G>A	uc022cfj.1	-	0	792	c.792C>T	c.(790-792)caC>caT	p.H264H	MAGEC2_uc004fbu.2_Silent_p.H264H	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	264	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CATAGACGAAGTGCTCCCTCC	0.507000										HNSCC(46;0.14)				14			48		0	0	0.003610	0	0
SLC38A5	92745	broad.mit.edu	37	X	48320627	48320628	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:48320627_48320628GG>AA	uc010nid.3	-	9	802_803	c.624_625CC>TT	c.(622-627)ttcctt>ttTTtt	p.L209F	SLC38A5_uc004djk.4_Missense_Mutation_p.L158F	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	Homo sapiens solute carrier family 38, member 5 (SLC38A5), mRNA.	209					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						ACCGAAACAAGGAAAAACAGCA	0.554000														11			3		0	0	0.004672	0	0
abParts	0	broad.mit.edu	37	14	106539350	106539350	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:106539350C>T	uc021ser.1	-	2082		c.37796G>A								Parts of antibodies, mostly variable regions.																		CACCTCAGCCCCAGACTGCAC	0.542000														20			35		0	0	0.008740	0	0
GH2	2689	broad.mit.edu	37	17	61958450	61958450	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:61958450G>A	uc002jcl.1	-	2	292	c.230C>T	c.(229-231)tCc>tTc	p.S77F	GH2_uc002jcn.1_Missense_Mutation_p.S62F|GH2_uc002jco.1_Missense_Mutation_p.S77F|GH2_uc002jcm.1_Missense_Mutation_p.S77F	NM_022557	NP_072051	P01242	SOM2_HUMAN	Homo sapiens growth hormone 2 (GH2), transcript variant 2, mRNA.	77						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GAAGCAGAGGGAGGTCTGGGG	0.532000														125			77		0	0	0.003610	0	0
FBXO40	51725	broad.mit.edu	37	3	121341642	121341642	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:121341642C>T	uc003eeg.2	+	2	1576	c.1366C>T	c.(1366-1368)Cac>Tac	p.H456Y		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	456					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AGGGGGACTCCACGTGGAGCT	0.522000														27			11		0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179464302	179464302	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179464302C>T	uc021vsy.1	-	237	48847	c.48622G>A	c.(48622-48624)Gag>Aag	p.E16208K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E9903K|TTN_uc021vta.1_Missense_Mutation_p.E9836K|TTN_uc021vtb.1_Missense_Mutation_p.E9711K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17135	Fibronectin type-III 17.						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)			AGTCTCATCTCCTTTGATGCT	0.383000														181			58		0	0	0.003610	0	0
LRRC32	2615	broad.mit.edu	37	11	76371827	76371827	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:76371827C>T	uc001oxq.4	-	2	1053	c.810G>A	c.(808-810)ctG>ctA	p.L270L	LRRC32_uc001oxr.4_Silent_p.L270L|LRRC32_uc010rsf.2_Silent_p.L270L	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	270						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TGGACAAGTTCAGGTAGATGA	0.642000														59			8		0	0	0.006214	0	0
PRKCI	5584	broad.mit.edu	37	3	169999030	169999030	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:169999030C>T	uc003fgs.2	+	9	1197	c.959C>T	c.(958-960)tCt>tTt	p.S320F		NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	320	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GGGCTGCATTCTTGCTTTCAG	0.383000														35			7		0	0	0.001984	0	0
CHRM3	1131	broad.mit.edu	37	1	240072190	240072190	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:240072190G>A	uc021plc.1	+	0	1439	c.1439G>A	c.(1438-1440)aGg>aAg	p.R480K	CHRM3_uc001hyp.3_Missense_Mutation_p.R480K	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	480					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.K479T(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AAGCGGAAAAGGATGTCCCTG	0.527000														50			16		0	0	0.004990	0	0
TMEM59L	25789	broad.mit.edu	37	19	18724759	18724759	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:18724759C>T	uc010ebu.1	+	1	336	c.249C>T	c.(247-249)ctC>ctT	p.L83L	TMEM59L_uc002njy.4_Silent_p.L83L	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA.	83						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GCTGCCGCCTCTTCTCCATCT	0.672000														48			26		0	0	0.005443	0	0
MTDH	92140	broad.mit.edu	37	8	98657030	98657030	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:98657030C>T	uc003yhz.3	+	0	624	c.296C>T	c.(295-297)gCc>gTc	p.A99V		NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	Homo sapiens metadherin (MTDH), mRNA.	99	Interaction with BCCIP.				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)			ccggccgcggcccccgACGAC	0.677000														7			3		0	0	0.009096	0	0
MUC16	94025	broad.mit.edu	37	19	9072091	9072091	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9072091G>A	uc002mkp.3	-	2	15559	c.15355C>T	c.(15355-15357)Cct>Tct	p.P5119S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5121	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						TTTATAGAAGGAAAAATTTCC	0.453000														68			30		0	0	0.006320	0	0
RGS6	9628	broad.mit.edu	37	14	72985178	72985178	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:72985178C>T	uc001xna.4	+	14	1734	c.1211C>T	c.(1210-1212)tCt>tTt	p.S404F	RGS6_uc021rvv.1_Missense_Mutation_p.S369F|RGS6_uc010ttn.2_Missense_Mutation_p.S404F|RGS6_uc021rvw.1_Missense_Mutation_p.S404F|RGS6_uc021rvx.1_Missense_Mutation_p.S404F|RGS6_uc021rvy.1_Missense_Mutation_p.S367F|RGS6_uc021rvz.1_Missense_Mutation_p.S367F|RGS6_uc001xmy.4_Missense_Mutation_p.S404F|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.S404F|RGS6_uc021rwa.1_Missense_Mutation_p.S367F|RGS6_uc021rwb.1_Missense_Mutation_p.S367F|RGS6_uc010ttp.1_Missense_Mutation_p.S335F|RGS6_uc021rwc.1_Missense_Mutation_p.S265F	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	404	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AACCTGGATTCTCACAGCTAT	0.453000														21			22		0	0	0.010504	0	0
IGHE	3497	broad.mit.edu	37	14	106066897	106066897	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:106066897G>A	uc001yrw.1	-	3	930	c.918C>T	c.(916-918)atC>atT	p.I306I	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Silent_p.I253I|epsilon_IgE_uc010axp.1_5'Flank|IGHE_uc001yru.2_5'Flank					RecName: Full=Ig epsilon chain C region;																		TCTCCCCCTCGATCCAGTCTC	0.662000														15			5		0	0	0.000602	0	0
PTPRD	5789	broad.mit.edu	37	9	8492952	8492952	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:8492952C>T	uc003zkk.3	-	26	3120	c.2377G>A	c.(2377-2379)Gaa>Aaa	p.E793K	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	793	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TAGGAAGTTTCAGGCTGGAGC	0.488000										TSP Lung(15;0.13)				78			18		0	0	0.010504	0	0
SPATS2L	26010	broad.mit.edu	37	2	201284121	201284121	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:201284121C>T	uc010zhc.2	+	5	560	c.437C>T	c.(436-438)tCg>tTg	p.S146L	SPATS2L_uc002uvn.4_Missense_Mutation_p.S116L|SPATS2L_uc010fst.3_Missense_Mutation_p.S116L|SPATS2L_uc002uvo.4_Missense_Mutation_p.S56L|SPATS2L_uc002uvp.4_Missense_Mutation_p.S116L|SPATS2L_uc002uvq.4_Missense_Mutation_p.S116L|SPATS2L_uc002uvr.4_Missense_Mutation_p.S116L	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2-like (SPATS2L), transcript variant 1, mRNA.	116						cytoplasm|nucleolus		p.R145H(1)		endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						AAGGACAGCTCGTCCACAGAT	0.542000														19			10		0	0	0.006214	0	0
FREM1	158326	broad.mit.edu	37	9	14746467	14746467	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:14746467C>T	uc003zlm.3	-	36	6955	c.6139_splice	c.e36-1	p.D2047_splice	FREM1_uc010mic.3_Splice_Site|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Splice_Site_p.D583_splice	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	2047					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTTCCACATCCTGAAAAACAG	0.483000														76			11		0	0	0.001368	0	0
UQCC	55245	broad.mit.edu	37	20	33971916	33971916	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:33971916G>A	uc002xcd.3	-	2	329	c.150C>T	c.(148-150)tcC>tcT	p.S50S	UQCC_uc010zuy.2_Intron|UQCC_uc021wcl.1_Silent_p.S4S|UQCC_uc010zva.2_Silent_p.S50S|UQCC_uc010gfb.3_Silent_p.S50S|UQCC_uc010zvb.2_Intron|UQCC_uc002xcg.3_5'UTR|UQCC_uc002xcf.3_Intron|UQCC_uc010zuz.2_Intron|GDF5_uc010gfc.1_Intron|UQCC_uc002xci.1_Silent_p.S4S|UQCC_uc010gfd.2_Intron|RN7SK_uc021wcm.1_5'Flank	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase complex chaperone (UQCC), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	50						cytoplasmic membrane-bounded vesicle				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CACATGCTCGGGACTGGCTCA	0.438000														39			9		0	0	0.004482	0	0
ERC2	26059	broad.mit.edu	37	3	56330247	56330247	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:56330247C>T	uc021wzo.1	-	1	1014	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	ERC2_uc003dhr.1_Missense_Mutation_p.E292K	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	292						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTCTGCGTTTCAATTCTCAGC	0.468000														326			46		0	0	0.003610	0	0
SLC44A5	204962	broad.mit.edu	37	1	75708618	75708618	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:75708618A>C	uc010oqz.1	-	6	607	c.541T>G	c.(541-543)Tgg>Ggg	p.W181G	SLC44A5_uc001dgt.2_Missense_Mutation_p.W142G|SLC44A5_uc001dgs.2_Missense_Mutation_p.W100G|SLC44A5_uc001dgr.2_Missense_Mutation_p.W100G|SLC44A5_uc001dgu.3_Missense_Mutation_p.W142G|SLC44A5_uc010ora.2_Missense_Mutation_p.W136G|SLC44A5_uc010orb.2_Missense_Mutation_p.W12G	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	142						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TAGTCTTCCCAGTAGCTTTTG	0.373000														104			10		0	0	0.000978	0	0
BPIFB1	92747	broad.mit.edu	37	20	31890760	31890760	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:31890760C>T	uc002wyw.1	+	10	1181	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	BPIFB1_uc002wyx.1_Non-coding_Transcript	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	340						extracellular space	lipid binding										TCGTGAAGATCCTAACTCAGG	0.562000														47			12		0	0	0.001855	0	0
NLRP13	126204	broad.mit.edu	37	19	56416475	56416475	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:56416475C>T	uc010ygg.2	-	7	2476	c.2451G>A	c.(2449-2451)ctG>ctA	p.L817L		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	817							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGCATTTCTCCAGGCTGTGGA	0.537000														55			7		0	0	0.004482	0	0
ATP13A4	84239	broad.mit.edu	37	3	193201734	193201734	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:193201734C>T	uc003ftd.3	-	7	907	c.799G>A	c.(799-801)Ggg>Agg	p.G267R	ATP13A4_uc003fte.1_Missense_Mutation_p.G267R|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	267					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)		CCTTTTCTCCCACATACAGAG	0.333000														70			31		0	0	0.003271	0	0
IMP3	55272	broad.mit.edu	37	15	75931965	75931965	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:75931965A>G	uc010bkl.2	-	0	700	c.545T>C	c.(544-546)cTg>cCg	p.L182P	IMP3_uc002bat.2_Missense_Mutation_p.L182P	NM_018285	NP_060755	Q9NV31	IMP3_HUMAN	Homo sapiens IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast) (IMP3), mRNA.	182					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding			large_intestine(1)	1						CTAGGCTTCCAGATCGAAGTC	0.532000														36			17		0	0	0.006122	0	0
PHKA1	5255	broad.mit.edu	37	X	71843002	71843002	+	Silent	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:71843002C>A	uc004eax.4	-	17	2218	c.1917G>T	c.(1915-1917)ctG>ctT	p.L639L	PHKA1_uc004eay.4_Silent_p.L639L|PHKA1_uc011mqi.2_Silent_p.L639L	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	639					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TGCCAGATTCCAGGTAATCAT	0.413000														11			18		1.2644e-06	1.38631e-06	0.010504	1	0
DNAH5	1767	broad.mit.edu	37	5	13865808	13865808	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:13865808T>A	uc003jfd.2	-	26	4366	c.4324A>T	c.(4324-4326)Att>Ttt	p.I1442F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1442	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)					TCATTGTTAATTTTTTCAATA	0.318000									Kartagener syndrome					30			12		0	0	0.001855	0	0
FLG2	388698	broad.mit.edu	37	1	152324797	152324797	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152324797C>T	uc001ezw.4	-	2	5538	c.5465G>A	c.(5464-5466)cGa>cAa	p.R1822Q	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1822							calcium ion binding|structural molecule activity	p.R1822*(1)		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)			AGTGTGTCCTCGTGAGTGTGG	0.522000														97			53		0	0	0.003610	0	0
MYH13	8735	broad.mit.edu	37	17	10265528	10265528	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10265528C>T	uc002gmk.1	-	4	502	c.412G>A	c.(412-414)Gag>Aag	p.E138K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	138	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCACCACCTCGGGCTTGTAC	0.537000														37			21		0	0	0.002836	0	0
ADAM2	2515	broad.mit.edu	37	8	39627032	39627032	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:39627032G>A	uc003xnj.3	-	11	1166	c.1091C>T	c.(1090-1092)tCa>tTa	p.S364L	ADAM2_uc003xnk.3_Missense_Mutation_p.S345L|ADAM2_uc011lck.2_Missense_Mutation_p.S364L|ADAM2_uc003xnl.3_Missense_Mutation_p.S238L	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	364	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.S364L(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)		CTTCTGCTTTGAAATAAAATG	0.408000														20			10		0	0	0.006214	0	0
ADAM30	11085	broad.mit.edu	37	1	120438510	120438510	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:120438510C>T	uc001eij.3	-	0	638	c.450G>A	c.(448-450)aaG>aaA	p.K150K		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	150					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TGGGAGAGGCCTTGAGGGGCT	0.443000														498			243		0	0	0.003610	0	0
SCN3A	6328	broad.mit.edu	37	2	165984417	165984417	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:165984417G>A	uc002ucx.3	-	17	3609	c.3117C>T	c.(3115-3117)atC>atT	p.I1039I	SCN3A_uc002ucy.3_Silent_p.I990I|SCN3A_uc002ucz.3_Silent_p.I990I|SCN3A_uc002uda.1_Silent_p.I859I|SCN3A_uc002udb.1_Silent_p.I859I	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1039						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TGCCTTCATGGATTTCTATAA	0.358000														58			5		0	0	0.000602	0	0
RGPD4	285190	broad.mit.edu	37	2	108488514	108488514	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:108488514G>A	uc010ywk.2	+	19	4136	c.4054G>A	c.(4054-4056)Gaa>Aaa	p.E1352K	RGPD4_uc002tdu.3_Missense_Mutation_p.E539K|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1352	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CAGTGGTGAGGAAAATGAAAA	0.368000														196			60		0	0	0.003610	0	0
DENND1A	57706	broad.mit.edu	37	9	126144874	126144874	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:126144874G>A	uc011lzm.1	-	20	2114	c.1900C>T	c.(1900-1902)Cgc>Tgc	p.R634C	DENND1A_uc011lzl.1_Missense_Mutation_p.R441C|DENND1A_uc004bny.1_Missense_Mutation_p.R405C|DENND1A_uc004bnz.1_Missense_Mutation_p.R623C|DENND1A_uc010mwh.1_Missense_Mutation_p.R44C	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	623						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GTCACCCCGCGGCTCCTCTCA	0.642000														35			11		0	0	0.001368	0	0
CCAR1	55749	broad.mit.edu	37	10	70509354	70509354	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:70509354C>T	uc001joo.3	+	9	1149	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S	CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_Missense_Mutation_p.P149S|CCAR1_uc009xpx.1_Missense_Mutation_p.P318S|CCAR1_uc001jon.1_Missense_Mutation_p.P290S|CCAR1_uc010qiz.1_Missense_Mutation_p.P329S|CCAR1_uc010qja.1_Missense_Mutation_p.P329S|CCAR1_uc010qjb.2_Non-coding_Transcript	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	344	Arg-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GGAAAGATCTCCACGAAGAGA	0.433000														23			16		0	0	0.003163	0	0
IGFN1	91156	broad.mit.edu	37	1	201184950	201184950	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:201184950C>T	uc001gwc.3	+	14	9409	c.9279C>T	c.(9277-9279)ctC>ctT	p.L3093L	IGFN1_uc001gwb.3_Intron	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGGCCGAGCTCACTCTGCAAG	0.632000														27			7		0	0	0.003080	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142557691	142557691	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:142557691C>T	uc003evd.3	-	4	938	c.631G>A	c.(631-633)Gat>Aat	p.D211N		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.	211	CUB 2.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GCCACATAATCATATCGGCAG	0.373000														37			10		0	0	0.003163	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37126523	37126523	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:37126523C>T	uc003zzq.3	+	1	367	c.194C>T	c.(193-195)tCg>tTg	p.S65L	ZCCHC7_uc011lqh.2_Intron|ZCCHC7_uc022bgu.1_Missense_Mutation_p.S65L|ZCCHC7_uc010mlt.3_Missense_Mutation_p.S64L|ZCCHC7_uc003zzs.1_Missense_Mutation_p.S64L	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 7 (ZCCHC7), mRNA.	65				S -> P (in Ref. 4; AAH22434).			nucleic acid binding|zinc ion binding	p.S65S(1)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		TCGGAATCTTCGAGTAGTAAA	0.418000														69			20		0	0	0.010504	0	0
OR11G2	390439	broad.mit.edu	37	14	20666271	20666271	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20666271C>T	uc010tlb.2	+	0	777	c.777C>T	c.(775-777)gtC>gtT	p.V259V		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V259V(4)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATGCTCTGGTCGTGAGAGCTG	0.507000														163			36		0	0	0.006230	0	0
PSMD2	5708	broad.mit.edu	37	3	184019347	184019348	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:184019347_184019348CC>TT	uc003fnn.1	+	3	413_414	c.380_381CC>TT	c.(379-381)tcc>tTT	p.S127F	PSMD2_uc011brj.1_5'UTR|PSMD2_uc011brk.1_5'UTR	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 (PSMD2), mRNA.	127					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GACATCATCTCCGTTTTGGCCA	0.485000														57			32		0	0	0.004672	0	0
C4orf21	55345	broad.mit.edu	37	4	113540840	113540840	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:113540840G>A	uc003iau.3	-	5	569	c.358C>T	c.(358-360)Caa>Taa	p.Q120*	C4orf21_uc003iaw.3_Nonsense_Mutation_p.Q120*	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	120										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CGTGGTCCTTGAAAACCCTGA	0.363000														16			17		0	0	0.007413	0	0
ZDHHC21	340481	broad.mit.edu	37	9	14618989	14618989	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:14618989G>A	uc003zlh.2	-	9	1251	c.773C>T	c.(772-774)cCc>cTc	p.P258L	ZDHHC21_uc003zlg.2_Intron	NM_178566	NP_848661	Q8IVQ6	ZDH21_HUMAN	Homo sapiens zinc finger, DHHC-type containing 21 (ZDHHC21), mRNA.	258					nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9				GBM - Glioblastoma multiforme(50;4.31e-06)		AAAGTGGTAGGGAACTCGCAG	0.488000														23			21		0	0	0.003330	0	0
MAP1A	4130	broad.mit.edu	37	15	43813704	43813704	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:43813704C>T	uc001zrt.3	+	3	500	c.33C>T	c.(31-33)gtC>gtT	p.V11V		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	11						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)	CCGAGTATGTCTCTGAGACTG	0.582000														34			16		0	0	0.004990	0	0
CCDC141	285025	broad.mit.edu	37	2	179701784	179701784	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179701784G>A	uc002une.2	-	22	4280	c.4162C>T	c.(4162-4164)Cct>Tct	p.P1388S	CCDC141_uc002unf.1_Missense_Mutation_p.P867S	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	813							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCTTCTCGAGGAACCATTTGC	0.498000														31			14		0	0	0.002450	0	0
TEKT3	64518	broad.mit.edu	37	17	15212016	15212016	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:15212016C>T	uc002gon.3	-	7	1408	c.1221G>A	c.(1219-1221)ccG>ccA	p.P407P		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	Homo sapiens tektin 3 (TEKT3), mRNA.	407					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		ACTCAATGTTCGGCCGTCTTG	0.577000														28			32		0	0	0.003271	0	0
SOS2	6655	broad.mit.edu	37	14	50655308	50655308	+	Silent	SNP	G	A	A	rs147109760	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:50655308G>A	uc001wxs.4	-	4	719	c.621C>T	c.(619-621)atC>atT	p.I207I	SOS2_uc010tql.2_Silent_p.I207I	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	207	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTTCTTCTGCGATTTCAGTTC	0.353000														24			8		0	0	0.003080	0	0
ECT2L	345930	broad.mit.edu	37	6	139167690	139167690	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:139167690G>A	uc003qif.2	+	7	1104	c.779G>A	c.(778-780)gGa>gAa	p.G260E	ECT2L_uc021zfx.1_Missense_Mutation_p.G260E|ECT2L_uc011edq.1_Missense_Mutation_p.G191E	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	260					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						AATATTTCTGGAAGCCATTCC	0.358000			"""N, Splice, Mis"""		ETP ALL									50			27		0	0	0.004656	0	0
FSIP2	401024	broad.mit.edu	37	2	186672248	186672248	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:186672248C>T	uc002upl.3	+	16	18482	c.18482C>T	c.(18481-18483)aCc>aTc	p.T6161I	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						TATGTAGAAACCTTACAATCT	0.318000														122			26		0	0	0.003954	0	0
PANK2	80025	broad.mit.edu	37	20	3869920	3869920	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:3869920C>T	uc002wkc.3	+	0	179	c.173C>T	c.(172-174)cCt>cTt	p.P58L	BC012193_uc002wjz.2_5'Flank|BC012193_uc002wka.1_5'Flank|PANK2_uc002wkb.3_Intron|PANK2_uc010gbd.1_Non-coding_Transcript|PANK2_uc002wkd.3_Non-coding_Transcript|PANK2_uc002wke.3_5'Flank|PANK2_uc002wkf.3_5'Flank	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	Homo sapiens pantothenate kinase 2 (PANK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	58					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GTCAATCCTCCTCGAGTTAGG	0.682000														6			6		0	0	0.001168	0	0
NRP1	8829	broad.mit.edu	37	10	33502446	33502446	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:33502446G>A	uc001iwx.4	-	8	2005	c.1482C>T	c.(1480-1482)atC>atT	p.I494I	NRP1_uc001iwv.4_Silent_p.I494I|NRP1_uc001iwy.4_Silent_p.I494I|NRP1_uc009xlz.3_Silent_p.I494I|NRP1_uc001iww.4_Silent_p.I313I|NRP1_uc001iwz.2_Silent_p.I494I|NRP1_uc001ixa.2_Silent_p.I494I|NRP1_uc001ixb.2_Silent_p.I494I|NRP1_uc001ixc.1_Silent_p.I494I	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	494	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TGCCCCTCACGATCTTCTCCT	0.547000														54			16		0	0	0.004990	0	0
ACOXL	55289	broad.mit.edu	37	2	111551742	111551742	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:111551742C>T	uc010yxk.1	+	4	560	c.336C>T	c.(334-336)ctC>ctT	p.L112L		NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	112					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	p.L112L(5)		kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CCTTTGACCTCTCTGCCCAGG	0.552000														24			9		0	0	0.006214	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962950	69962950	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:69962950G>A	uc003heg.4	+	0	758	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	UGT2B7_uc010ihq.3_Missense_Mutation_p.E238K	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	238					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTTTTATAGTGAAGTTCTAGG	0.328000														27			12		0	0	0.001855	0	0
AKAP6	9472	broad.mit.edu	37	14	33290821	33290821	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:33290821C>T	uc001wrq.3	+	12	3972	c.3802C>T	c.(3802-3804)Cat>Tat	p.H1268Y		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1268					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GGCTGATAACCATGGGGGATC	0.463000														30			9		0	0	0.004482	0	0
PLB1	151056	broad.mit.edu	37	2	28855815	28855815	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:28855815G>A	uc002rmb.2	+	55	4051	c.4007G>A	c.(4006-4008)gGg>gAg	p.G1336E	PLB1_uc010ezj.2_Missense_Mutation_p.G1325E|PLB1_uc002rme.2_Missense_Mutation_p.G301E	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1336	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TTGCAGAGAGGGGACACTGAC	0.582000														48			21		0	0	0.003330	0	0
C3orf32	51066	broad.mit.edu	37	3	8675454	8675454	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:8675454G>A	uc011atg.2	-	3	277	c.237C>T	c.(235-237)gcC>gcT	p.A79A	C3orf32_uc003bqz.3_Silent_p.A57A|C3orf32_uc003bqt.3_Silent_p.A6A|C3orf32_uc003bqu.3_Silent_p.A57A|C3orf32_uc003bqv.3_Silent_p.A6A|C3orf32_uc003bqx.3_Non-coding_Transcript|C3orf32_uc003bqy.3_Silent_p.A57A	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	Homo sapiens chromosome 3 open reading frame 32 (C3orf32), mRNA.	57										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	14						GGGCTTCCCGGGCCACCTCCT	0.657000														45			4		0	0	0.009096	0	0
TIGD3	220359	broad.mit.edu	37	11	65123368	65123368	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:65123368C>T	uc021qlj.1	+	0	89	c.89C>T	c.(88-90)tCc>tTc	p.S30F	TIGD3_uc001odo.4_Missense_Mutation_p.S30F	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA.	30	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TCCAAGATGTCCCAGTCGGAG	0.617000														48			28		0	0	0.007291	0	0
POLD3	10714	broad.mit.edu	37	11	74324008	74324008	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:74324008C>T	uc001ovf.1	+	4	420	c.345C>T	c.(343-345)ttC>ttT	p.F115F	POLD3_uc009yua.1_Silent_p.F9F	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	Homo sapiens polymerase (DNA-directed), delta 3, accessory subunit (POLD3), mRNA.	115					DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair|mismatch repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					GGCCTCTGTTCAATACTGACT	0.443000														49			24		0	0	0.003330	0	0
SCN5A	6331	broad.mit.edu	37	3	38663953	38663953	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38663953G>A	uc021wvo.1	-	2	472	c.420C>T	c.(418-420)acC>acT	p.T140T	SCN5A_uc021wvk.1_Silent_p.T140T|SCN5A_uc021wvl.1_Silent_p.T140T|SCN5A_uc021wvm.1_Silent_p.T140T|SCN5A_uc021wvn.1_Silent_p.T140T|SCN5A_uc021wvp.1_Silent_p.T140T|SCN5A_uc021wvq.1_Silent_p.T140T|SCN5A_uc021wvr.1_Silent_p.T140T|SCN5A_uc021wvs.1_Silent_p.T140T|SCN5A_uc021wvt.1_Silent_p.T140T|SCN5A_uc021wvu.1_Silent_p.T140T|SCN5A_uc021wvv.1_Silent_p.T140T|SCN5A_uc021wvj.1_Silent_p.T6T|SCN5A_uc021wvi.1_Silent_p.T6T|SCN5A_uc010hhl.1_Silent_p.T6T	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	140					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGGTGAGGATGGTGCACATGA	0.627000														7			3		0	0	0.000602	0	0
DIO3	1735	broad.mit.edu	37	14	102028019	102028019	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:102028019C>T	uc021sdx.1	+	0	332	c.186C>T	c.(184-186)ctC>ctT	p.L62L	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	36					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TCTGGCTTCTCGATTTCTTGT	0.662000														38			10		0	0	0.000978	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995039	140995039	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:140995039C>T	uc004fbt.3	+	3	2173	c.1849C>T	c.(1849-1851)Cag>Tag	p.Q617*	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Nonsense_Mutation_p.Q276*	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	617							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTCCTCTTCAGGGGGAGGA	0.572000										HNSCC(15;0.026)				116			42		0	0	0.007835	0	0
SCN11A	11280	broad.mit.edu	37	3	38991643	38991643	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38991643G>A	uc021wvy.1	-	0	410	c.211C>T	c.(211-213)Cgt>Tgt	p.R71C		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	71					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)	ATGAGCTCACGAGGAATGTCG	0.552000														119			29		0	0	0.002096	0	0
BMPR2	659	broad.mit.edu	37	2	203420895	203420895	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:203420895C>T	uc002uzf.4	+	11	3655	c.2507C>T	c.(2506-2508)aCc>aTc	p.T836I	BMPR2_uc010ftr.3_Intron	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), mRNA.	836					BMP signaling pathway|anterior/posterior pattern formation|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GGCCAAACAACCAACATAGTG	0.468000														32			22		0	0	0.001882	0	0
POP1	10940	broad.mit.edu	37	8	99146817	99146817	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:99146817C>T	uc003yij.4	+	6	1041	c.941C>T	c.(940-942)tCc>tTc	p.S314F	POP1_uc011lgv.2_Missense_Mutation_p.S314F|POP1_uc003yik.3_Missense_Mutation_p.S314F	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	314					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			ATCTGGAAGTCCCAGAGGACC	0.507000														68			23		0	0	0.003330	0	0
C1orf94	84970	broad.mit.edu	37	1	34662971	34662971	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:34662971G>A	uc001bxt.3	+	1	1304	c.466G>A	c.(466-468)Gag>Aag	p.E156K	C1orf94_uc001bxs.4_5'UTR	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	95							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GGGGACCAGAGAGCTGGCTCC	0.587000														11			5		0	0	0.000602	0	0
AK7	122481	broad.mit.edu	37	14	96904217	96904217	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:96904217G>A	uc001yfn.2	+	5	699	c.655G>A	c.(655-657)Gga>Aga	p.G219R		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	219					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ACTCCAGTATGGAGCGGAAGG	0.363000														21			20		0	0	0.004656	0	0
CILP2	148113	broad.mit.edu	37	19	19655535	19655535	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:19655535C>T	uc002nmw.4	+	7	2284	c.2199C>T	c.(2197-2199)ttC>ttT	p.F733F	CILP2_uc002nmv.4_Silent_p.F727F	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	727						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGCGCCTGTTCAATCTGGACG	0.706000														17			6		0	0	0.001168	0	0
AMPD3	272	broad.mit.edu	37	11	10506453	10506453	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:10506453G>A	uc001min.1	+	4	1048	c.703G>A	c.(703-705)Ggg>Agg	p.G235R	AMPD3_uc010rbz.1_Missense_Mutation_p.G67R|AMPD3_uc009yfw.1_Splice_Site|AMPD3_uc009yfx.1_Missense_Mutation_p.G226R|AMPD3_uc001mio.1_Missense_Mutation_p.G226R|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.G233R|AMPD3_uc009yfy.2_Missense_Mutation_p.G226R	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	226					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CCACATGCAGGGGGGCATCCT	0.572000														48			43		0	0	0.003610	0	0
SLC25A12	8604	broad.mit.edu	37	2	172700971	172700971	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:172700971G>A	uc002uhh.2	-	4	462	c.373C>T	c.(373-375)Cct>Tct	p.P125S	SLC25A12_uc010fqh.2_Missense_Mutation_p.P18S|SLC25A12_uc010zdv.1_Non-coding_Transcript	NM_003705	NP_003696	O75746	CMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, Aralar), member 12 (SLC25A12), nuclear gene encoding mitochondrial protein, mRNA.	125	EF-hand 3.				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	CAGTTAAAAGGGATATGATGA	0.328000														42			13		0	0	0.001855	0	0
SRP54	6729	broad.mit.edu	37	14	35478029	35478029	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:35478029T>A	uc001wso.3	+	6	828	c.477T>A	c.(475-477)ttT>ttA	p.F159L	SRP54_uc010tpp.2_Missense_Mutation_p.F110L|SRP54_uc010tpq.2_Missense_Mutation_p.F95L	NM_003136	NP_003127	P61011	SRP54_HUMAN	Homo sapiens signal recognition particle 54kDa (SRP54), transcript variant 1, mRNA.	159	G-domain.				GTP catabolic process|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation|response to drug	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|GDP binding|GTP binding|drug binding|endoplasmic reticulum signal peptide binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		GAATTCCATTTTATGGAAGGT	0.323000														18			5		0	0	0.000602	0	0
DNAH5	1767	broad.mit.edu	37	5	13762882	13762882	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:13762882C>T	uc003jfd.2	-	59	10272	c.10230G>A	c.(10228-10230)acG>acA	p.T3410T	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3410	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)					CCATAGCTTTCGTCCAGGAAC	0.453000									Kartagener syndrome					27			14		0	0	0.003163	0	0
GRIA1	2890	broad.mit.edu	37	5	153190776	153190777	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:153190776_153190777GG>AA	uc011dcy.2	+	15	2769_2770	c.2742_2743GG>AA	c.(2740-2745)acggga>acAAga	p.G915R	GRIA1_uc003lva.4_Missense_Mutation_p.G905R|GRIA1_uc003luy.4_Missense_Mutation_p.G905R|GRIA1_uc003luz.4_Missense_Mutation_p.G810R|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.G825R|GRIA1_uc011dcx.2_Missense_Mutation_p.G836R|GRIA1_uc011dcz.2_Missense_Mutation_p.G915R	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	905					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGGGAGCCACGGGATTGTAACT	0.559000														18			5		0	0	0.004672	0	0
CEACAM21	90273	broad.mit.edu	37	19	42083877	42083877	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:42083877G>A	uc002ore.4	+	1	486	c.390G>A	c.(388-390)caG>caA	p.Q130Q	CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Silent_p.Q130Q	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	130						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GAAATTCTCAGATTGAACAGG	0.498000														46			9		0	0	0.006214	0	0
ZNF566	84924	broad.mit.edu	37	19	36940123	36940123	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:36940123G>A	uc010xtf.2	-	4	1151	c.1016C>T	c.(1015-1017)cCt>cTt	p.P339L	ZNF566_uc002oea.4_Missense_Mutation_p.P338L|ZNF566_uc010xte.2_Missense_Mutation_p.P338L|ZNF566_uc002oeb.4_Missense_Mutation_p.P338L|ZNF566_uc002oec.4_Missense_Mutation_p.P234L|ZNF566_uc010xtg.2_Missense_Mutation_p.P234L	NM_001145343	NP_001138815	Q969W8	ZN566_HUMAN	Homo sapiens zinc finger protein 566 (ZNF566), transcript variant 4, mRNA.	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					ACATTCGTAAGGTTTCTCACC	0.393000														31			12		0	0	0.000978	0	0
ADAM22	53616	broad.mit.edu	37	7	87792381	87792381	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:87792381G>A	uc003ujn.3	+	22	2177	c.1962G>A	c.(1960-1962)ggG>ggA	p.G654G	ADAM22_uc003ujk.2_Silent_p.G654G|ADAM22_uc003ujl.2_Silent_p.G654G|ADAM22_uc003ujm.3_Silent_p.G654G|ADAM22_uc003ujo.3_Silent_p.G654G|ADAM22_uc003ujp.1_Silent_p.G706G	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	654	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TGGAAGATGGGACACCTTGTG	0.398000														38			44		0	0	0.003610	0	0
CILP2	148113	broad.mit.edu	37	19	19655245	19655245	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:19655245G>A	uc002nmw.4	+	7	1994	c.1909G>A	c.(1909-1911)Gac>Aac	p.D637N	CILP2_uc002nmv.4_Missense_Mutation_p.D631N	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	631						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGTGGACAGCGACGGCGAGCT	0.726000														63			36		0	0	0.009718	0	0
CYP4F3	4051	broad.mit.edu	37	19	15770121	15770121	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15770121G>A	uc010xok.2	+	12	1539	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	CYP4F3_uc010xol.2_Missense_Mutation_p.E497K|CYP4F3_uc002nbj.3_Missense_Mutation_p.E497K|CYP4F3_uc010xom.2_Missense_Mutation_p.E348K|CYP4F3_uc002nbk.3_Missense_Mutation_p.E497K|CYP4F3_uc010xon.2_Missense_Mutation_p.E207K	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	497					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGACCACACCGAGCCCCGCAG	0.682000														14			8		0	0	0.004482	0	0
ALPK2	115701	broad.mit.edu	37	18	56204564	56204564	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:56204564G>A	uc002lhj.4	-	4	3069	c.2855C>T	c.(2854-2856)cCt>cTt	p.P952L	ALPK2_uc002lhk.1_Missense_Mutation_p.P283L	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	952							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTGCACTAAAGGATTGTTCTC	0.512000														27			14		0	0	0.001855	0	0
MLL2	8085	broad.mit.edu	37	19	36214784	36214784	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:36214784C>T	uc021usv.1	+	7	3210	c.3210C>T	c.(3208-3210)ctC>ctT	p.L1070L	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	832	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.D1070G(1)		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						AGGACTCCCTCCTGCAGCGCA	0.716000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				16			4		0	0	0.000602	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074331	106074331	+	Silent	SNP	G	A	A	rs147963751		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:106074331G>A	uc001kyf.3	-	2	1932	c.1479C>T	c.(1477-1479)gcC>gcT	p.A493A	ITPRIP_uc001kye.3_Silent_p.A493A|ITPRIP_uc001kyg.3_Silent_p.A493A|ITPRIP_uc021pxv.1_Silent_p.A493A	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	493						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CCCTGAGCACGGCCTCAGGGA	0.577000														47			18		0	0	0.010504	0	0
RB1CC1	9821	broad.mit.edu	37	8	53586631	53586631	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:53586631G>A	uc003xre.4	-	6	1334	c.776C>T	c.(775-777)cCc>cTc	p.P259L	RB1CC1_uc003xrf.4_Missense_Mutation_p.P259L	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	259					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding	p.P259S(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CACTGACTTGGGAAATGAGGT	0.418000														130			31		0	0	0.002096	0	0
RIMBP3	85376	broad.mit.edu	37	22	20458093	20458093	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:20458093C>T	uc002zsd.4	-	0	3694	c.3209G>A	c.(3208-3210)gGa>gAa	p.G1070E	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			GGACATAGTTCCCCAATACAC	0.662000														75			5		0	0	0.001984	0	0
AHCYL2	23382	broad.mit.edu	37	7	129046260	129046260	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:129046260C>T	uc011kov.2	+	9	1311	c.1248C>T	c.(1246-1248)tcC>tcT	p.S416S	AHCYL2_uc003vot.3_Silent_p.S415S|AHCYL2_uc003vov.3_Silent_p.S313S|AHCYL2_uc011kox.2_Silent_p.S313S	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA.	416					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						CCATGGGCTCCATTGTGTATG	0.493000														66			33		0	0	0.004289	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50513589	50513589	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:50513589C>T	uc003daq.3	-	1	286	c.248G>A	c.(247-249)gGc>gAc	p.G83D	CACNA2D2_uc003dap.3_Missense_Mutation_p.G83D	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	83					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.G83D(2)		breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CCGCATCACGCCGTCGACCTC	0.632000														10			5		0	0	0.001168	0	0
ZNF417	147687	broad.mit.edu	37	19	58421035	58421035	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:58421035G>A	uc002qqq.3	-	2	810	c.611C>T	c.(610-612)cCc>cTc	p.P204L	ZNF417_uc010yhm.2_Missense_Mutation_p.P161L|ZNF417_uc002qqr.3_Missense_Mutation_p.P203L	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	Homo sapiens zinc finger protein 417 (ZNF417), mRNA.	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CTCCTGAAAGGGTGGGCCATG	0.468000														62			26		0	0	0.003610	0	0
ALPPL2	251	broad.mit.edu	37	2	233272048	233272049	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:233272048_233272049GG>AA	uc002vss.4	+	2	290_291	c.237_238GG>AA	c.(235-240)aaggac>aaAAac	p.D80N		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	80					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GGCAGAAGAAGGACAAACTGGG	0.584000														43			4		0	0	0.004672	0	0
MUC4	4585	broad.mit.edu	37	3	195518055	195518055	+	Missense_Mutation	SNP	C	T	T	rs147332471	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:195518055C>T	uc021xjp.1	-	1	552	c.396G>A	c.(394-396)atG>atA	p.M132I	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.M14I	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	137					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTGATGTCATCATGAGTGTGT	0.443000														39			8		0	0	0.003080	0	0
NELL1	4745	broad.mit.edu	37	11	21250883	21250883	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:21250883G>A	uc009yid.3	+	14	1669	c.1516G>A	c.(1516-1518)Gat>Aat	p.D506N	NELL1_uc010rdp.2_Missense_Mutation_p.D238N|NELL1_uc001mqe.3_Missense_Mutation_p.D478N|NELL1_uc001mqf.3_Missense_Mutation_p.D478N|NELL1_uc010rdo.2_Missense_Mutation_p.D421N	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	478	EGF-like 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AACAGAACACGATGAATGTGG	0.463000														18			6		0	0	0.001984	0	0
NSD1	64324	broad.mit.edu	37	5	176637091	176637091	+	Missense_Mutation	SNP	C	T	T	rs148196686		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:176637091C>T	uc003mfr.4	+	4	1829	c.1691C>T	c.(1690-1692)gCc>gTc	p.A564V	NSD1_uc003mft.4_Missense_Mutation_p.A295V|NSD1_uc003mfs.1_Missense_Mutation_p.A461V|NSD1_uc011dfx.2_Missense_Mutation_p.A212V	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	564					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCCAACACTGCCCCAGGAAGT	0.443000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				26			12		0	0	0.000978	0	0
MUC17	140453	broad.mit.edu	37	7	100683171	100683171	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100683171C>A	uc003uxp.1	+	2	8527	c.8474C>A	c.(8473-8475)tCt>tAt	p.S2825Y	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2825	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGGCCAGTTCTGAGGCTGGC	0.493000														152			82		3.77845e-26	4.17802e-26	0.003610	1	0
CLDN15	24146	broad.mit.edu	37	7	100880830	100880830	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100880830G>A	uc003uyg.2	-	0	398	c.33C>T	c.(31-33)ttC>ttT	p.F11F	CLDN15_uc003uyh.2_Silent_p.F11F|CLDN15_uc003uyi.3_Silent_p.F11F|CLDN15_uc022aja.1_Silent_p.F11F	NM_014343	NP_001172009	P56746	CLD15_HUMAN	Homo sapiens claudin 15 (CLDN15), transcript variant 2, mRNA.	11					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					CAGTTGCCATGAAGAAGCCAA	0.607000														20			5		0	0	0.000602	0	0
MED17	9440	broad.mit.edu	37	11	93523911	93523911	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:93523911C>T	uc001pem.4	+	2	864	c.589C>T	c.(589-591)Cga>Tga	p.R197*		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	Homo sapiens mediator complex subunit 17 (MED17), mRNA.	197					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTGGAAACTTCGAAAAGTTGG	0.398000														41			10		0	0	0.000978	0	0
TGM3	7053	broad.mit.edu	37	20	2312850	2312850	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:2312850G>A	uc002wfx.4	+	9	1633	c.1536G>A	c.(1534-1536)acG>acA	p.T512T		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	512					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCAGGGATACGAAGACAGTGA	0.537000														12			9		0	0	0.006214	0	0
NRXN2	9379	broad.mit.edu	37	11	64374929	64374929	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:64374929C>T	uc021qkw.1	-	22	5340	c.4878G>A	c.(4876-4878)gtG>gtA	p.V1626V	NRXN2_uc021qkx.1_Silent_p.V1556V|NRXN2_uc001oas.3_Silent_p.V1556V|NRXN2_uc001oao.3_Silent_p.V266V|NRXN2_uc001oap.3_Silent_p.V580V|NRXN2_uc001oaq.3_Silent_p.V1293V	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1626					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GGATCACCTCCACTGCGCCCG	0.711000														29			8		0	0	0.006214	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68795677	68795677	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:68795677C>T	uc003hdr.1	-	4	532	c.411G>A	c.(409-411)aaG>aaA	p.K137K	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Silent_p.K134K	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	137	SEA.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TTTGGATTTTCTTCTCTCTTA	0.403000														42			10		0	0	0.001368	0	0
AGMAT	79814	broad.mit.edu	37	1	15905500	15905500	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:15905500C>T	uc001awv.2	-	3	717	c.574G>A	c.(574-576)Gac>Aac	p.D192N	DNAJC16_uc001awu.3_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	Homo sapiens agmatine ureohydrolase (agmatinase) (AGMAT), mRNA.	192					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGCCTTGTCGGTCGTGTCC	0.647000														19			17		0	0	0.007413	0	0
GRIK2	2898	broad.mit.edu	37	6	102124583	102124583	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:102124583G>A	uc003pqp.4	+	3	920	c.627G>A	c.(625-627)aaG>aaA	p.K209K	GRIK2_uc021zdj.1_Silent_p.K209K|GRIK2_uc003pqn.3_Silent_p.K209K|GRIK2_uc010kcw.3_Silent_p.K209K|GRIK2_uc003pqo.4_Silent_p.K209K|GRIK2_uc021zdk.1_Silent_p.K209K|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	209					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CTGATACAAAGGATGCAAAAC	0.368000														22			9		0	0	0.004482	0	0
CCDC60	160777	broad.mit.edu	37	12	119942892	119942892	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:119942892C>T	uc001txe.3	+	6	1132	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	223										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ATTCAAAATTCCCACAATGCG	0.517000														24			36		0	0	0.004289	0	0
RGS7	6000	broad.mit.edu	37	1	241519024	241519024	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:241519024G>A	uc001hyv.2	-	1	383	c.53C>T	c.(52-54)tCa>tTa	p.S18L	RGS7_uc001hyu.2_Missense_Mutation_p.S18L|RGS7_uc009xgn.1_Missense_Mutation_p.S18L|RGS7_uc001hyw.2_Missense_Mutation_p.S18L	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	18					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CATGTTGGGTGATTCATCGGC	0.468000														55			32		0	0	0.002836	0	0
C1RL	51279	broad.mit.edu	37	12	7252533	7252533	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:7252533G>A	uc001qsn.3	-	3	673	c.580C>T	c.(580-582)Cac>Tac	p.H194Y	C1RL_uc009zft.3_Missense_Mutation_p.H194Y	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA.	194					complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCCTGGCAGTGGTTCTGGACC	0.597000														16			27		0	0	0.009535	0	0
DDX10	1662	broad.mit.edu	37	11	108577504	108577504	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:108577504C>T	uc001pkm.3	+	9	1327	c.1262C>T	c.(1261-1263)cCc>cTc	p.P421L	DDX10_uc001pkl.1_Missense_Mutation_p.P421L	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	421	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		ATTTTGCTACCCTCAGAAAAA	0.343000			T	NUP98	AML*									110			19		0	0	0.001882	0	0
ADCY8	114	broad.mit.edu	37	8	131792927	131792927	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:131792927C>T	uc003ytd.4	-	17	3721	c.3465G>A	c.(3463-3465)gtG>gtA	p.V1155V	ADCY8_uc010mds.3_Silent_p.V1024V	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	1155					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGATACCCTTCACATAGATCT	0.517000										HNSCC(32;0.087)				59			31		0	0	0.009535	0	0
OR7D4	125958	broad.mit.edu	37	19	9325025	9325025	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9325025C>T	uc002mla.2	-	0	523	c.489G>A	c.(487-489)atG>atA	p.M163I		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TCAACCTCTTCATCAGTAGAA	0.507000														38			26		0	0	0.003330	0	0
TPTE	7179	broad.mit.edu	37	21	10969106	10969106	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:10969106C>T	uc002yip.1	-	6	510	c.142G>A	c.(142-144)Gga>Aga	p.G48R	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Intron|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	48					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGGGCTGCTCCTTTAAATTCA	0.468000														97			31		0	0	0.007835	0	0
JAK3	3718	broad.mit.edu	37	19	17945447	17945447	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:17945447G>A	uc002nhn.4	-	16	2383	c.2283C>T	c.(2281-2283)gcC>gcT	p.A761A	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Silent_p.A761A	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	761	Protein kinase 1.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.A761A(3)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CCGGCTCATAGGCCATGCACT	0.612000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									67			27		0	0	0.009535	0	0
CDH10	1008	broad.mit.edu	37	5	24535818	24535818	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:24535818C>T	uc003jgr.2	-	3	1146	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	214	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGACCTGTTTCAGGCTCCACA	0.428000										HNSCC(23;0.051)				25			4		0	0	0.001168	0	0
LTBP2	4053	broad.mit.edu	37	14	75052711	75052711	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:75052711C>T	uc001xqa.3	-	2	1063	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	226					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)		GGGTCAAATTCCTCATCGGGA	0.682000														5			7		0	0	0.001984	0	0
BCL11A	53335	broad.mit.edu	37	2	60688386	60688386	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:60688386G>A	uc002sae.1	-	3	1889	c.1661C>T	c.(1660-1662)tCc>tTc	p.S554F	BCL11A_uc002sab.3_Missense_Mutation_p.S554F|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.S223F|BCL11A_uc010ypj.2_Missense_Mutation_p.S520F|BCL11A_uc002sad.1_Missense_Mutation_p.S402F|BCL11A_uc002saf.1_Missense_Mutation_p.S520F	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	554					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.S554F(2)|p.S554S(1)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GTGCTGCATGGAGCTGAGCAC	0.706000			T	IGH@	B-CLL									128			35		0	0	0.007835	0	0
NALCN	259232	broad.mit.edu	37	13	101712206	101712206	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:101712206C>T	uc001vox.1	-	41	5058	c.4869G>A	c.(4867-4869)acG>acA	p.T1623T		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1623						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTTGGCATTCGTGTCCTCAC	0.542000														33			28		0	0	0.008361	0	0
DNAH5	1767	broad.mit.edu	37	5	13793832	13793832	+	Silent	SNP	C	T	T	rs112594597		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:13793832C>T	uc003jfd.2	-	48	8058	c.8016G>A	c.(8014-8016)acG>acA	p.T2672T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2672	AAA 3 (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)					CTATCTCATTCGTAACCTACA	0.423000									Kartagener syndrome					39			10		0	0	0.008291	0	0
RNF113B	140432	broad.mit.edu	37	13	98828564	98828564	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:98828564C>T	uc001vnk.3	-	0	958	c.927G>A	c.(925-927)gcG>gcA	p.A309A	FARP1_uc001vnh.3_Intron|FARP1_uc001vni.3_Intron|FARP1_uc001vnj.3_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	Homo sapiens ring finger protein 113B (RNF113B), mRNA.	309							nucleic acid binding|zinc ion binding	p.A309A(2)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TTTGCAGTTTCGCCATCAGTT	0.572000														46			26		0	0	0.008361	0	0
CR2	1380	broad.mit.edu	37	1	207649738	207649738	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:207649738G>A	uc001hfw.3	+	13	2818	c.2699G>A	c.(2698-2700)tGg>tAg	p.W900*	CR2_uc001hfv.3_Nonsense_Mutation_p.W959*|CR2_uc009xch.3_Intron	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	900	Sushi 14.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GAGGGAACCTGGAGCCAACCT	0.423000														26			17		0	0	0.006122	0	0
LRRK1	79705	broad.mit.edu	37	15	101562664	101562664	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:101562664C>T	uc002bwr.3	+	14	2248	c.1929C>T	c.(1927-1929)atC>atT	p.I643I	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	643	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGATGATCATCGTGGGTCCCC	0.587000														61			18		0	0	0.010504	0	0
OR2T34	127068	broad.mit.edu	37	1	248737705	248737705	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248737705G>A	uc001iep.1	-	0	354	c.354C>T	c.(352-354)ttC>ttT	p.F118F		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGCCAGGAGGAAAACCTCAG	0.562000														65			6		0	0	0.001984	0	0
HERC4	26091	broad.mit.edu	37	10	69726449	69726449	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:69726449G>A	uc001jng.4	-	15	2228	c.1917C>T	c.(1915-1917)gcC>gcT	p.A639A	HERC4_uc009xpq.3_Silent_p.A180A|HERC4_uc001jnf.4_Non-coding_Transcript|HERC4_uc001jnh.4_Silent_p.A639A|HERC4_uc009xpr.3_Silent_p.A639A|HERC4_uc001jni.4_Silent_p.A383A|HERC4_uc021prr.1_Silent_p.A124A	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	Homo sapiens hect domain and RLD 4 (HERC4), transcript variant 1, mRNA.	639					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						CCATTCCATAGGCCTGCTGTT	0.289000														5			5		0	0	0.001984	0	0
RYR2	6262	broad.mit.edu	37	1	237875071	237875071	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:237875071C>T	uc001hyl.1	+	70	10377	c.10257C>T	c.(10255-10257)ttC>ttT	p.F3419F	RYR2_uc010pxz.1_Silent_p.F374F	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3419					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)			AGCAGAACTTCGTTGTACAGA	0.323000														20			6		0	0	0.003080	0	0
NPR1	4881	broad.mit.edu	37	1	153661483	153661483	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:153661483G>A	uc001fcs.4	+	15	2893	c.2472G>A	c.(2470-2472)gcG>gcA	p.A824A	NPR1_uc010pdz.2_Silent_p.A570A|NPR1_uc010pea.2_Silent_p.A302A	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	824					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	p.A824A(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	AGCAGTACGCGAACAATCTGG	0.622000														87			48		0	0	0.003610	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1811274	1811274	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:1811274G>A	uc010uvl.2	+	12	1627	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K	MAPK8IP3_uc002cmk.3_Missense_Mutation_p.E502K|MAPK8IP3_uc002cml.3_Missense_Mutation_p.E492K|MAPK8IP3_uc021tah.1_Missense_Mutation_p.E496K	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	502					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGAAGAGGCGGAGGATGTAAG	0.607000														78			15		0	0	0.010504	0	0
DMRT3	58524	broad.mit.edu	37	9	990474	990474	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:990474G>A	uc003zgw.1	+	1	926	c.888G>A	c.(886-888)gaG>gaA	p.E296E		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	296					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CGGGAGCAGAGCGAACTTCCG	0.582000														35			22		0	0	0.010504	0	0
KIAA1958	158405	broad.mit.edu	37	9	115421617	115421617	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:115421617C>T	uc011lwx.1	+	4	1678	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F	KIAA1958_uc004bgf.1_Silent_p.F473F	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	473										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GCTCGGACTTCCTGGCCACCT	0.547000														26			18		0	0	0.004990	0	0
FAT3	120114	broad.mit.edu	37	11	92534656	92534656	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:92534656G>A	uc001pdj.4	+	8	8494	c.8477G>A	c.(8476-8478)gGg>gAg	p.G2826E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2826	Cadherin 26.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATAATGGAAGGGATGCCTGTT	0.448000										TCGA Ovarian(4;0.039)				264			75		0	0	0.003610	0	0
NCKAP5	344148	broad.mit.edu	37	2	133489315	133489315	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:133489315G>A	uc002ttp.3	-	16	5812	c.5438C>T	c.(5437-5439)tCc>tTc	p.S1813F	NCKAP5_uc002ttq.3_Missense_Mutation_p.S494F	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1813							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTACCTGAGGAAGCTGGTTT	0.507000														49			22		0	0	0.002299	0	0
abParts	0	broad.mit.edu	37	14	107170136	107170136	+	RNA	SNP	C	T	T	rs141856656	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:107170136C>T	uc021ser.1	-	44		c.2748G>A								Parts of antibodies, mostly variable regions.																		AGCATAGCTGCTGAAGGTGCC	0.587000														80			16		0	0	0.003163	0	0
PLOD2	5352	broad.mit.edu	37	3	145796908	145796908	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:145796908C>T	uc003evr.1	-	12	2001	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	PLOD2_uc003evq.1_Missense_Mutation_p.E159K|PLOD2_uc011bnm.1_Missense_Mutation_p.E444K|PLOD2_uc003evs.1_Missense_Mutation_p.E499K	NM_182943	NP_891988	O00469	PLOD2_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 (PLOD2), transcript variant 1, mRNA.	499					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CTTACCATTTCTCTAGCATTT	0.398000														91			25		0	0	0.008361	0	0
SAMD4B	55095	broad.mit.edu	37	19	39866354	39866355	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:39866354_39866355CC>TT	uc002olb.3	+	6	1767_1768	c.732_733CC>TT	c.(730-735)ccccag>ccTTag	p.Q245*	SAMD4B_uc002ola.3_Nonsense_Mutation_p.Q245*	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Homo sapiens sterile alpha motif domain containing 4B (SAMD4B), mRNA.	245							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTACAAGCCCCCAGGTCCCTGG	0.614000														133			57		0	0	0.004672	0	0
TRANK1	9881	broad.mit.edu	37	3	36874636	36874636	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:36874636C>T	uc003cgj.3	-	20	6554	c.6306G>A	c.(6304-6306)ttG>ttA	p.L2102L		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2102					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTCTCAAGTTCAAATCCAGGT	0.393000														12			9		0	0	0.006214	0	0
DNAH17	8632	broad.mit.edu	37	17	76525736	76525737	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:76525736_76525737CC>TT	uc010dhp.2	-	21	3449_3450	c.3324_3325GG>AA	c.(3322-3327)atgggc>atAAgc	p.1108_1109MG>IS		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.									p.G1106C(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTGGTCAAGCCCATTCTGGCGA	0.579000														13			23		0	0	0.004672	0	0
DDX60	55601	broad.mit.edu	37	4	169158547	169158547	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:169158547C>T	uc003irp.3	-	31	4593	c.4301G>A	c.(4300-4302)gGg>gAg	p.G1434E		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1434							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TCCAGCAAACCCCATAGGATT	0.338000														15			8		0	0	0.006214	0	0
CTGF	1490	broad.mit.edu	37	6	132270418	132270418	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:132270418C>T	uc003qcz.3	-	4	1242	c.1036G>A	c.(1036-1038)Gga>Aga	p.G346R	DD182001_uc021zfj.1_5'Flank	NM_001901	NP_001892	P29279	CTGF_HUMAN	Homo sapiens connective tissue growth factor (CTGF), mRNA.	346	Heparin-binding.				DNA replication|cellular lipid metabolic process|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GCCATGTCTCCGTACATCTTC	0.418000														63			29		0	0	0.002836	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810436	65810436	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:65810436G>A	uc001ogv.3	-	1	998	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	GAL3ST3_uc001ogw.3_Missense_Mutation_p.P280S	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 3 (GAL3ST3), mRNA.	280					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						agcgccgcggggATGGCGGCC	0.751000														8			4		0	0	0.009096	0	0
CCDC54	84692	broad.mit.edu	37	3	107096817	107096817	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:107096817C>T	uc003dwi.1	+	0	630	c.383C>T	c.(382-384)tCt>tTt	p.S128F		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	128								p.L127L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GATATCCTCTCTATGAAAGAA	0.393000														12			5		0	0	0.001984	0	0
OR2B3	442184	broad.mit.edu	37	6	29054925	29054925	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:29054925G>A	uc003nlx.3	-	0	166	c.101C>T	c.(100-102)tCa>tTa	p.S34L		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						GATTGTGTATGATATTAACAG	0.408000														41			18		0	0	0.001882	0	0
TRPM3	80036	broad.mit.edu	37	9	73151591	73151591	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:73151591C>T	uc004aid.3	-	24	4646	c.4402G>A	c.(4402-4404)Gac>Aac	p.D1468N	TRPM3_uc004ahu.3_Missense_Mutation_p.D1310N|TRPM3_uc004ahv.3_Missense_Mutation_p.D1270N|TRPM3_uc004ahw.3_Missense_Mutation_p.D1340N|TRPM3_uc004ahx.3_Missense_Mutation_p.D1327N|TRPM3_uc004ahy.3_Missense_Mutation_p.D1330N|TRPM3_uc004ahz.3_Missense_Mutation_p.D1317N|TRPM3_uc004aia.3_Missense_Mutation_p.D1315N|TRPM3_uc004aib.3_Missense_Mutation_p.D1305N|TRPM3_uc004aic.3_Intron	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1493						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						GATCTAGTGTCCATGGAGGTG	0.512000														52			15		0	0	0.004990	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290979	141290979	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:141290979G>A	uc022cfj.1	-	0	795	c.795C>T	c.(793-795)ttC>ttT	p.F265F	MAGEC2_uc004fbu.2_Silent_p.F265F	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	265	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCATAGACGAAGTGCTCCC	0.507000										HNSCC(46;0.14)				14			46		0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168103356	168103357	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:168103356_168103357GG>AT	uc002udx.3	+	8	5543_5544	c.5454_5455GG>AT	c.(5452-5457)aaggtt>aaATtt	p.V1819F	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.V1644F|XIRP2_uc010fpq.3_Missense_Mutation_p.V1597F|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1644					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACACAGTTAAGGTTTTTATGAC	0.406000														63			10		0	0	0.004672	0	0
MARK2	2011	broad.mit.edu	37	11	63676485	63676485	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:63676485C>T	uc001nxw.3	+	18	2722	c.2143C>T	c.(2143-2145)Cgc>Tgc	p.R715C	MARK2_uc001nxv.4_Missense_Mutation_p.R651C|MARK2_uc001nxx.3_Missense_Mutation_p.R646C|MARK2_uc001nxy.3_Missense_Mutation_p.R636C|MARK2_uc001nxz.4_Missense_Mutation_p.R672C|MARK2_uc009yoy.3_Missense_Mutation_p.R626C	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	715					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GCGGGAGATCCGCAAGGTGCT	0.607000														14			11		0	0	0.008291	0	0
PCF11	51585	broad.mit.edu	37	11	82877056	82877057	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:82877056_82877057CC>TT	uc001ozx.4	+	4	1462_1463	c.1117_1118CC>TT	c.(1117-1119)cct>TTt	p.P373F	PCF11_uc010rsu.1_Missense_Mutation_p.P373F	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	373	Lys-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATCACCCTCACCTTTGAAAAAC	0.312000														15			4		0	0	0.004672	0	0
OMP	4975	broad.mit.edu	37	11	76813933	76813933	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:76813933C>T	uc010rsk.2	+	0	48	c.48C>T	c.(46-48)gtC>gtT	p.V16V	CAPN5_uc001oxx.3_Intron|CAPN5_uc009yup.3_Intron|CAPN5_uc009yuq.3_Intron|CAPN5_uc001oxy.3_Intron	NM_006189	NP_006180	P47874	OMP_HUMAN	Homo sapiens olfactory marker protein (OMP), mRNA.	16					sensory perception of smell|synaptic transmission					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TGCCGCTGGTCCTGGACCAGG	0.692000														9			11		0	0	0.000978	0	0
MAGI1	9223	broad.mit.edu	37	3	65464362	65464362	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:65464362C>T	uc003dmn.3	-	3	1188	c.662G>A	c.(661-663)cGa>cAa	p.R221Q	MAGI1_uc003dmm.3_Missense_Mutation_p.R221Q|MAGI1_uc003dmo.3_Missense_Mutation_p.R221Q|MAGI1_uc003dmp.3_Missense_Mutation_p.R221Q|MAGI1_uc010hny.2_Missense_Mutation_p.R105Q|MAGI1_uc021xac.1_Missense_Mutation_p.R221Q|MAGI1_uc003dmr.3_Missense_Mutation_p.R221Q	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	221	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GGACTTGGTTCGCTTCGGGGT	0.527000														73			37		0	0	0.004289	0	0
VWF	7450	broad.mit.edu	37	12	6094217	6094217	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:6094217C>T	uc001qnn.1	-	39	7220	c.6970G>A	c.(6970-6972)Gag>Aag	p.E2324K	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2324	VWFC 1.				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)	ATACCACACTCATACTCGGGG	0.607000														27			35		0	0	0.006230	0	0
AKR1D1	6718	broad.mit.edu	37	7	137776547	137776547	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:137776547C>T	uc003vtz.3	+	2	382	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C	AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqb.1_Missense_Mutation_p.R99C|AKR1D1_uc011kqc.1_Non-coding_Transcript|AKR1D1_uc011kqf.2_Missense_Mutation_p.R99C|AKR1D1_uc011kqe.1_Missense_Mutation_p.R99C|AKR1D1_uc010lmy.1_Non-coding_Transcript	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	99					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	p.V98V(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						AGAGATGGTCCGCCCAACCCT	0.463000														35			11		0	0	0.001368	0	0
GUCY2F	2986	broad.mit.edu	37	X	108697044	108697044	+	Silent	SNP	G	A	A	rs137951058		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:108697044G>A	uc022cch.1	-	2	1162	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Silent_p.I359I	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	359					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TGGCTTGTGCGATAAAGTAAA	0.418000														7			5		0	0	0.000602	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375783	93375783	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:93375783C>T	uc022bjs.1	-	0	327	c.327G>A	c.(325-327)ggG>ggA	p.G109G	DIRAS2_uc004aqx.1_Silent_p.G109G	NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA.	109					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						TCTCCACGTCCCCTTTGATCT	0.592000														60			9		0	0	0.006214	0	0
IGSF9	57549	broad.mit.edu	37	1	159898388	159898389	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:159898388_159898389GG>AA	uc001fur.2	-	18	2987_2988	c.2789_2790CC>TT	c.(2788-2790)ccc>cTT	p.P930L	IGSF9_uc001fuq.2_Missense_Mutation_p.P914L|IGSF9_uc001fup.2_Missense_Mutation_p.P76L	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	930	Pro-rich.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCGGAAGAAGGGCAGGCTCAG	0.644000														16			4		0	0	0.004672	0	0
FOLR1	2348	broad.mit.edu	37	11	71907035	71907035	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:71907035C>T	uc001orz.2	+	5	864	c.588C>T	c.(586-588)tcC>tcT	p.S196S	FOLR1_uc001osa.2_Silent_p.S196S|FOLR1_uc001osb.2_Silent_p.S196S|FOLR1_uc001osd.2_Silent_p.S196S	NM_016724	NP_057941	P15328	FOLR1_HUMAN	Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.	196					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						GGACTCACTCCTACAAGGTCA	0.557000														58			25		0	0	0.003954	0	0
SATB1	6304	broad.mit.edu	37	3	18391025	18391025	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:18391025C>T	uc003cbh.3	-	10	3664	c.1929G>A	c.(1927-1929)caG>caA	p.Q643Q	SATB1_uc003cbi.3_Silent_p.Q675Q|SATB1_uc003cbj.3_Silent_p.Q643Q	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	643					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCCGGGTCTTCTGTCGGTTTT	0.592000														69			23		0	0	0.002780	0	0
BCL6	604	broad.mit.edu	37	3	187449586	187449586	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:187449586C>T	uc003frp.3	-	3	751	c.294G>A	c.(292-294)cgG>cgA	p.R98R	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Silent_p.R98R|BCL6_uc010hza.2_5'UTR|BCL6_uc003frq.2_Silent_p.R98R	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	98	BTB.				negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGTTGCCCTCCCGCAAATTGA	0.493000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""									39			6		0	0	0.003080	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64718908	64718908	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:64718908G>A	uc010nko.3	+	2	845	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	249							endonuclease activity|nucleic acid binding|zinc ion binding	p.E110K(1)|p.S259Y(1)|p.E196K(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACTGGAGAAGGAAAAGATTCT	0.393000														37			61		0	0	0.003610	0	0
PCSK1	5122	broad.mit.edu	37	5	95733144	95733144	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:95733144C>T	uc003kls.2	-	11	1857	c.1618G>A	c.(1618-1620)Gaa>Aaa	p.E540K	PCSK1_uc010jbi.2_Missense_Mutation_p.E230K|PCSK1_uc021ybq.1_Missense_Mutation_p.E493K	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	540					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)	GTATCCCGTTCTCTTTCAGCC	0.398000														19			4		0	0	0.000602	0	0
HYDIN	54768	broad.mit.edu	37	16	71054220	71054220	+	Splice_Site	SNP	T	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:71054220T>G	uc002ezr.3	-	22	3338	c.3187_splice	c.e22-1	p.K1063_splice		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1063										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)				CTGTTAGGTTTCTGCAAAAAC	0.388000														16			9		0	0	0.008291	0	0
IGSF10	285313	broad.mit.edu	37	3	151164712	151164712	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:151164712C>T	uc011bod.2	-	3	3057	c.3057G>A	c.(3055-3057)agG>agA	p.R1019R		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1019					cell differentiation|multicellular organismal development|ossification	extracellular region		p.G1018*(1)|p.G1018R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAATCCGCCCCCTTCCGCCAA	0.478000														55			7		0	0	0.001984	0	0
COL9A1	1297	broad.mit.edu	37	6	70944264	70944264	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:70944264C>T	uc003pfg.4	-	34	2451	c.2292G>A	c.(2290-2292)caG>caA	p.Q764Q	COL9A1_uc003pfe.4_Silent_p.Q313Q|COL9A1_uc003pff.4_Silent_p.Q521Q	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	764	Nonhelical region (NC2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.K763N(1)		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						TCATGCAAACCTGCTTAATGT	0.353000														14			6		0	0	0.001984	0	0
DSC3	1825	broad.mit.edu	37	18	28598740	28598740	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:28598740C>T	uc002kwj.4	-	7	1124	c.969G>A	c.(967-969)atG>atA	p.M323I	DSC3_uc002kwi.4_Missense_Mutation_p.M323I	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	323	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTTGTACTTTCATTATCAATG	0.328000														35			15		0	0	0.004007	0	0
PALMD	54873	broad.mit.edu	37	1	100154504	100154504	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:100154504G>A	uc001dsg.3	+	6	1131	c.688G>A	c.(688-690)Ggc>Agc	p.G230S		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	230					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		AGCATACAATGGCACCGATGG	0.428000														86			39		0	0	0.006999	0	0
CORIN	10699	broad.mit.edu	37	4	47647188	47647188	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:47647188C>T	uc003gxm.3	-	13	1960	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	CORIN_uc011bzf.2_Missense_Mutation_p.E484K|CORIN_uc011bzg.2_Missense_Mutation_p.E556K|CORIN_uc011bzh.1_Missense_Mutation_p.E586K	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	623	LDL-receptor class A 6.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GATGGACATTCCCAAAGATCT	0.373000														36			27		0	0	0.007291	0	0
KIAA1407	57577	broad.mit.edu	37	3	113772443	113772444	+	Splice_Site	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:113772443_113772444CC>TT	uc003eax.3	-	2	276	c.129_splice	c.e2+1	p.K43_splice	KIAA1407_uc011bin.1_Intron|KIAA1407_uc011bio.1_Intron|KIAA1407_uc011bip.1_Intron	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	43										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AATATCCTTACCTTTATCCAGT	0.322000														17			3		0	0	0.004672	0	0
GRM7	2917	broad.mit.edu	37	3	7620949	7620949	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:7620949G>A	uc003bqm.2	+	7	2630	c.2356G>A	c.(2356-2358)Gaa>Aaa	p.E786K	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.E786K|GRM7_uc003bql.2_Missense_Mutation_p.E786K|GRM7_uc003bqn.1_Missense_Mutation_p.E369K|GRM7_uc010hch.1_Missense_Mutation_p.E297K	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	786					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)	GAATTTTAACGAAGCCAAGCC	0.433000														36			5		0	0	0.000602	0	0
KIAA0754	643314	broad.mit.edu	37	1	39878858	39878858	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:39878858C>T	uc009vvt.1	+	0	3683	c.2921C>T	c.(2920-2922)cCt>cTt	p.P974L	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	838	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGAAGGGCCTGTCACCCCA	0.592000														10			4		0	0	0.009096	0	0
RNF165	494470	broad.mit.edu	37	18	44030681	44030681	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:44030681C>T	uc002lcb.1	+	5	786	c.735C>T	c.(733-735)ctC>ctT	p.L245L	RNF165_uc002lby.1_Silent_p.L178L|RNF165_uc010dnn.1_Silent_p.L41L	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	245							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		TGCTGCAGCTCGAGGACAGGT	0.517000														41			14		0	0	0.003163	0	0
C2CD2	25966	broad.mit.edu	37	21	43332482	43332482	+	Silent	SNP	C	T	T	rs148517689		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:43332482C>T	uc002yzw.3	-	6	1154	c.912G>A	c.(910-912)acG>acA	p.T304T	C2CD2_uc002yzu.3_Silent_p.T136T|C2CD2_uc002yzv.3_Silent_p.T149T|C2CD2_uc002yzx.1_Silent_p.T149T	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	304	C2.					cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GAGTGTTTTTCGTCAGGGTGC	0.542000														6			10		0	0	0.001855	0	0
ANKRD7	56311	broad.mit.edu	37	7	117876137	117876137	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:117876137C>T	uc003vji.3	+	3	684	c.511C>T	c.(511-513)Cca>Tca	p.P171S		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	Homo sapiens ankyrin repeat domain 7 (ANKRD7), mRNA.	171					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TAACAATAATCCAAAAATGGT	0.279000														79			8		0	0	0.006214	0	0
VLDLR	7436	broad.mit.edu	37	9	2647568	2647568	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:2647568C>T	uc003zhk.1	+	11	2195	c.1798C>T	c.(1798-1800)Cag>Tag	p.Q600*	VLDLR_uc003zhl.1_Nonsense_Mutation_p.Q600*|VLDLR_uc003zhm.1_Non-coding_Transcript	NM_003383	NP_003374	P98155	VLDLR_HUMAN	Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.	600					cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		AGCGGATATCCAGTGGCCTAA	0.433000														29			4		0	0	0.000602	0	0
OR1J2	26740	broad.mit.edu	37	9	125273488	125273488	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:125273488G>A	uc011lyv.2	+	0	408	c.408G>A	c.(406-408)atG>atA	p.M136I	OR1J2_uc004bmj.2_Missense_Mutation_p.M136I	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CTGTCATCATGAGGGAAGAGC	0.458000														30			11		0	0	0.000978	0	0
PLG	5340	broad.mit.edu	37	6	161143527	161143527	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:161143527G>A	uc003qtm.4	+	9	1296	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	395	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.G395R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACCACCACAGGAAAGAAGTGT	0.493000														32			17		0	0	0.006122	0	0
SCN7A	6332	broad.mit.edu	37	2	167298046	167298046	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:167298046C>T	uc002udu.2	-	13	2147	c.2017G>A	c.(2017-2019)Gac>Aac	p.D673N	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	673					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGGAAAAAGTCATGCATGTGC	0.468000														37			10		0	0	0.000978	0	0
PLAG1	5324	broad.mit.edu	37	8	57079555	57079555	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:57079555G>A	uc003xsq.4	-	2	1201	c.750C>T	c.(748-750)ttC>ttT	p.F250F	PLAG1_uc003xsr.4_Silent_p.F250F|PLAG1_uc010lyi.3_Silent_p.F250F|PLAG1_uc010lyj.3_Silent_p.F168F|PLAG1_uc022aur.1_Silent_p.F168F	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	250	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			ATGGGTCAAGGAAATCCACTG	0.443000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma									105			45		0	0	0.003610	0	0
ATP13A4	84239	broad.mit.edu	37	3	193132532	193132532	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:193132532C>T	uc003ftd.3	-	25	2958	c.2850G>A	c.(2848-2850)ctG>ctA	p.L950L	ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	950					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)		AGGCACCATTCAGATTCACTA	0.408000														29			8		0	0	0.004482	0	0
FREM1	158326	broad.mit.edu	37	9	14759820	14759820	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:14759820C>T	uc003zlm.3	-	28	6100	c.5284G>A	c.(5284-5286)Gaa>Aaa	p.E1762K	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Missense_Mutation_p.E298K	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1762	Calx-beta.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTGATAATTTCCAAGGGCAAC	0.388000														51			27		0	0	0.006320	0	0
MUC16	94025	broad.mit.edu	37	19	9073527	9073527	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9073527G>T	uc002mkp.3	-	2	14123	c.13919C>A	c.(13918-13920)tCt>tAt	p.S4640Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4642	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						TGCATCAAAAGAGGGGACTTC	0.453000														90			10		3.07112e-06	3.36407e-06	0.000978	1	0
AKR1B1	231	broad.mit.edu	37	7	134134532	134134532	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:134134532G>A	uc003vrp.1	-	3	443	c.369C>T	c.(367-369)ttC>ttT	p.F123F		NM_001628	NP_001619	P15121	ALDR_HUMAN	Homo sapiens aldo-keto reductase family 1, member B1 (aldose reductase) (AKR1B1), mRNA.	123					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	CATCCAATGGGAAAAATTCCT	0.468000														79			53		0	0	0.003610	0	0
TNFSF15	9966	broad.mit.edu	37	9	117554687	117554687	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:117554687C>T	uc004bjh.3	-	3	417	c.301_splice	c.e3+1	p.V101_splice	TNFSF15_uc004bjg.3_Splice_Site_p.V42_splice	NM_005118	NP_005109	O95150	TNF15_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA.	101					activation of NF-kappaB-inducing kinase activity|activation of caspase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						GGAGGCTTACCTGTCAGGTGT	0.438000														21			6		0	0	0.004482	0	0
PTPRB	5787	broad.mit.edu	37	12	70963486	70963486	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:70963486C>T	uc001swb.4	-	11	2979	c.2949G>A	c.(2947-2949)ctG>ctA	p.L983L	PTPRB_uc010sto.2_Silent_p.L983L|PTPRB_uc010stp.2_Silent_p.L893L|PTPRB_uc001swc.4_Silent_p.L1201L|PTPRB_uc001swa.4_Silent_p.L1113L|PTPRB_uc001swd.4_Silent_p.L1200L|PTPRB_uc009zrr.2_Silent_p.L1080L	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	983	Fibronectin type-III 11.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCTGATTCTTCAGGGACCCGC	0.517000														11			29		0	0	0.007291	0	0
TNRC6C	57690	broad.mit.edu	37	17	76094571	76094571	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:76094571C>T	uc002jud.2	+	17	5054	c.4454C>T	c.(4453-4455)tCc>tTc	p.S1485F	TNRC6C_uc002juf.2_Missense_Mutation_p.S1521F	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1485	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AAGCCCTCCTCCACCTGGGGT	0.602000														27			34		0	0	0.006999	0	0
OR13H1	347468	broad.mit.edu	37	X	130678425	130678425	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:130678425C>T	uc011muw.2	+	0	378	c.378C>T	c.(376-378)atC>atT	p.I126I	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TGGTTGCTATCAGCAATCCCC	0.532000														19			54		0	0	0.003610	0	0
CHST4	10164	broad.mit.edu	37	16	71570729	71570729	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:71570729C>T	uc021tkt.1	+	0	149	c.149C>T	c.(148-150)tCc>tTc	p.S50F	CHST4_uc002fan.3_Missense_Mutation_p.S50F|CHST4_uc002fao.3_Missense_Mutation_p.S50F	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	50					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						GTTCTGTCTTCCTGGCGCTCT	0.552000														38			27		0	0	0.005443	0	0
DENND3	22898	broad.mit.edu	37	8	142186792	142186792	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:142186792G>A	uc003yvy.3	+	14	2676	c.2398G>A	c.(2398-2400)Gag>Aag	p.E800K	DENND3_uc010mep.3_Missense_Mutation_p.E761K	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	800										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGAAAACCGAGTGTGACCT	0.522000														53			27		0	0	0.006320	0	0
NLRC4	58484	broad.mit.edu	37	2	32474890	32474890	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:32474890C>T	uc002roi.3	-	3	2304	c.2043G>A	c.(2041-2043)ggG>ggA	p.G681G	NLRC4_uc021vfq.1_Silent_p.G681G|NLRC4_uc002roj.2_Silent_p.G681G|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	681					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGAATATTTTCCCCAGATATC	0.458000														65			21		0	0	0.008871	0	0
SRC	6714	broad.mit.edu	37	20	36028682	36028682	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:36028682G>A	uc002xgx.3	+	9	1473	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	SRC_uc002xgy.3_Missense_Mutation_p.E342K|SRC_uc021wdd.1_5'Flank	NM_005417	NP_938033	P12931	SRC_HUMAN	Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) (SRC), transcript variant 1, mRNA.	342	Protein kinase.				Ras protein signal transduction|T cell costimulation|axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly	caveola|cytosol|mitochondrial inner membrane	ATP binding|SH2 domain binding|SH3/SH2 adaptor activity|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity	p.T341R(1)|p.T341A(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	CATCGTCACGGAGTACATGAG	0.592000														23			8		0	0	0.000978	0	0
NAIP	4671	broad.mit.edu	37	5	70308365	70308365	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:70308365G>A	uc003kar.1	-	3	1096	c.378C>T	c.(376-378)ttC>ttT	p.F126F	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Silent_p.F126F|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.	126					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TGTTCAAAAGGAACCCACAAT	0.483000														56			14		0	0	0.003163	0	0
CA1	759	broad.mit.edu	37	8	86249251	86249251	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:86249251G>A	uc022axc.1	-	2	356	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	CA13_uc003ydf.1_Intron|CA1_uc003ydh.3_Nonsense_Mutation_p.Q93*|CA1_uc022axd.1_Nonsense_Mutation_p.Q93*|CA1_uc010mae.2_Nonsense_Mutation_p.Q93*|CA1_uc003ydi.3_Nonsense_Mutation_p.Q93*	NM_001164830	NP_001729	P00915	CAH1_HUMAN	Homo sapiens carbonic anhydrase I (CA1), transcript variant 5, mRNA.	93					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)	AAATGGAACTGAAAGAGCCTG	0.433000														44			25		0	0	0.003954	0	0
DNAH5	1767	broad.mit.edu	37	5	13900509	13900509	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:13900509G>A	uc003jfd.2	-	14	2107	c.2065C>T	c.(2065-2067)Cat>Tat	p.H689Y		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	689	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)					AGACCTACATGAATTTCTTCA	0.373000									Kartagener syndrome					16			4		0	0	0.000602	0	0
TACR2	6865	broad.mit.edu	37	10	71174784	71174784	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:71174784G>A	uc001jpn.2	-	1	1099	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_001057	NP_001048	P21452	NK2R_HUMAN	Homo sapiens tachykinin receptor 2 (TACR2), mRNA.	168					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	CGGTGGAGTAGAAGCACTGAG	0.652000														37			10		0	0	0.000978	0	0
FAM194A	131831	broad.mit.edu	37	3	150387157	150387157	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:150387157G>A	uc003eyg.3	-	11	1482	c.1425C>T	c.(1423-1425)ccC>ccT	p.P475P	FAM194A_uc003eyh.3_Silent_p.P329P	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	475								p.P475S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CAGGGTTAGTGGGCATATCTT	0.463000														62			18		0	0	0.006122	0	0
PRKCG	5582	broad.mit.edu	37	19	54403501	54403501	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:54403501C>T	uc002qcq.1	+	11	1578	c.1296C>T	c.(1294-1296)ttC>ttT	p.F432F	PRKCG_uc010yeg.1_Silent_p.F432F|PRKCG_uc010yeh.1_Silent_p.F319F	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	432	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GCCTGTATTTCGTGATGGAGT	0.537000														31			20		0	0	0.003330	0	0
ADCY8	114	broad.mit.edu	37	8	131792904	131792904	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:131792904C>T	uc003ytd.4	-	17	3744	c.3488G>A	c.(3487-3489)gGa>gAa	p.G1163E	ADCY8_uc010mds.3_Missense_Mutation_p.G1032E	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	1163					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.G1163*(1)		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)			TTTGATTTTTCCTTCCTGTTC	0.512000										HNSCC(32;0.087)				50			24		0	0	0.003330	0	0
SPTBN1	6711	broad.mit.edu	37	2	54858619	54858619	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:54858619G>A	uc002rxu.3	+	15	3684	c.3435G>A	c.(3433-3435)caG>caA	p.Q1145Q	SPTBN1_uc002rxx.3_Silent_p.Q1132Q	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	1145					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCGGCTGCAGGCCCTGGACA	0.562000														79			15		0	0	0.003163	0	0
TAP1	6890	broad.mit.edu	37	6	32815321	32815321	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:32815321G>A	uc003ocg.3	-	8	2207	c.2052C>T	c.(2050-2052)ttC>ttT	p.F684F	PSMB8_uc003ocf.3_5'Flank|TAP1_uc011dqi.2_Silent_p.F423F	NM_000593	NP_000584	Q03518	TAP1_HUMAN	Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA.	684	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	TAP complex|cytosol|plasma membrane	ADP binding|ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						GTCCAGAGATGAAACTATGGG	0.488000														67			9		0	0	0.006214	0	0
OR6T1	219874	broad.mit.edu	37	11	123813896	123813896	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:123813896G>A	uc010sab.2	-	0	650	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S217Y(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCAGGCATAGGAAACTGAGGT	0.542000														43			4		0	0	0.009096	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691095	18691095	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:18691095G>A	uc001rdt.3	+	23	3322	c.3206G>A	c.(3205-3207)cGa>cAa	p.R1069Q	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.R1110Q|PIK3C2G_uc010sic.2_Missense_Mutation_p.R888Q	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1069	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TACAGGGACCGAGCTCCTTTC	0.368000														12			25		0	0	0.006320	0	0
TTN	7273	broad.mit.edu	37	2	179466861	179466861	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179466861G>A	uc021vsy.1	-	232	47658	c.47433C>T	c.(47431-47433)ttC>ttT	p.F15811F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.F9506F|TTN_uc021vta.1_Silent_p.F9439F|TTN_uc021vtb.1_Silent_p.F9314F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16738	Fibronectin type-III 14.						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)			CAATGTCAATGAAAACTTCTG	0.378000														50			16		0	0	0.004007	0	0
PMFBP1	83449	broad.mit.edu	37	16	72164189	72164189	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:72164189C>T	uc002fcc.4	-	11	1892	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K	PMFBP1_uc002fcd.3_Missense_Mutation_p.E569K|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Missense_Mutation_p.E424K|PMFBP1_uc010cgo.1_5'Flank	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	574										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TGCCTCTTTTCCTTGTCTGAA	0.478000														52			4		0	0	0.009096	0	0
PRMT7	54496	broad.mit.edu	37	16	68382290	68382290	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:68382290A>C	uc002evy.2	+	13	1713	c.1369A>C	c.(1369-1371)Aaa>Caa	p.K457Q	PRMT7_uc010vlg.2_Missense_Mutation_p.K407Q|PRMT7_uc002evz.2_Intron	NM_019023	NP_061896	Q9NVM4	ANM7_HUMAN	Homo sapiens protein arginine methyltransferase 7 (PRMT7), transcript variant 1, mRNA.	457					DNA methylation involved in gamete generation|cell differentiation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CATCATAGAGAAACGGCCGGA	0.428000														68			5		0	0	0.003080	0	0
ZNF284	342909	broad.mit.edu	37	19	44585252	44585252	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:44585252C>T	uc002oyg.1	+	2	316	c.100C>T	c.(100-102)Cga>Tga	p.R34*	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	Homo sapiens zinc finger protein 284 (ZNF284), mRNA.	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				GAAGCTGTATCGAGATGTCAT	0.532000														69			38		0	0	0.005524	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325752	79325752	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:79325752C>T	uc010mpk.3	-	7	1562	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	PRUNE2_uc022bih.1_Missense_Mutation_p.E302K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	480					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CATGCATGTTCCTCCGCCACC	0.597000														15			8		0	0	0.008291	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406325	38406325	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:38406325G>T	uc003jlc.2	+	6	1156	c.810G>T	c.(808-810)ttG>ttT	p.L270F	EGFLAM_uc003jlb.2_Missense_Mutation_p.L270F|EGFLAM_uc003jle.2_Missense_Mutation_p.L36F|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	270						cell junction|proteinaceous extracellular matrix|synapse		p.D269E(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ACTTAGATTTGGATATTTCCT	0.463000														36			8		1.06961e-07	1.17384e-07	0.003080	1	0
OR52H1	390067	broad.mit.edu	37	11	5566574	5566574	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5566574C>A	uc010qzh.2	-	0	180	c.180G>T	c.(178-180)gaG>gaT	p.E60D	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GAAGACTATGCTCCACCACAA	0.463000														41			8		1.12685e-05	1.23365e-05	0.004482	1	0
NPR2	4882	broad.mit.edu	37	9	35792814	35792814	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:35792814C>T	uc003zyd.3	+	0	409	c.409C>T	c.(409-411)Cgt>Tgt	p.R137C	NPR2_uc010mlb.3_Missense_Mutation_p.R137C	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	137					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TGACCATTATCGTACCCTGGT	0.602000														58			6		0	0	0.003080	0	0
RYR2	6262	broad.mit.edu	37	1	237796931	237796931	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:237796931C>T	uc001hyl.1	+	42	6729	c.6609C>T	c.(6607-6609)ttC>ttT	p.F2203F		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2203	4 X approximate repeats.				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)			TCTGTTACTTCTGTCGTATAA	0.378000														121			55		0	0	0.003610	0	0
DOPEY1	23033	broad.mit.edu	37	6	83869520	83869520	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:83869520C>T	uc011dyy.2	+	36	7036	c.6776C>T	c.(6775-6777)tCa>tTa	p.S2259L	DOPEY1_uc003pjs.1_Missense_Mutation_p.S2268L|DOPEY1_uc010kbl.1_Missense_Mutation_p.S2259L|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	2268					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TACAGGACTTCAGGGCCCTCT	0.463000														49			20		0	0	0.001882	0	0
NTN4	59277	broad.mit.edu	37	12	96131721	96131721	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:96131721A>T	uc001tei.3	-	2	1236	c.787T>A	c.(787-789)Ttc>Atc	p.F263I	NTN4_uc009ztf.3_Missense_Mutation_p.F263I|NTN4_uc009ztg.3_Missense_Mutation_p.F226I	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	263	Laminin EGF-like 1.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CCATTGCAGAAGCAGCTGCCC	0.478000														27			19		0	0	0.007413	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518020	113518020	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:113518020C>T	uc010ljy.1	-	3	3158	c.3127G>A	c.(3127-3129)Gaa>Aaa	p.E1043K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	1043					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GATTCCTTTTCACCTGAAGTG	0.378000														89			40		0	0	0.003610	0	0
ABCC8	6833	broad.mit.edu	37	11	17438479	17438479	+	Silent	SNP	G	A	A	rs142315209		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:17438479G>A	uc001mnc.3	-	16	2379	c.2253C>T	c.(2251-2253)ccC>ccT	p.P751P		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	751	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGCTGTACCTGGGGTCCTCTC	0.562000														197			94		0	0	0.003610	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596513	24596513	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:24596513C>T	uc011djo.2	-	2	889	c.389G>A	c.(388-390)tGg>tAg	p.W130*	KIAA0319_uc011djp.2_Nonsense_Mutation_p.W85*|KIAA0319_uc003neh.1_Nonsense_Mutation_p.W130*|KIAA0319_uc011djq.1_Nonsense_Mutation_p.W121*|KIAA0319_uc011djr.1_Nonsense_Mutation_p.W130*	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	130					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						TGAGTCCCCCCAGATCCCCGA	0.552000														39			16		0	0	0.004990	0	0
ENPP3	5169	broad.mit.edu	37	6	132045225	132045225	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:132045225G>A	uc003qcu.4	+	19	2139	c.1792G>A	c.(1792-1794)Gaa>Aaa	p.E598K	ENPP3_uc003qcv.3_Missense_Mutation_p.E598K|ENPP3_uc010kfq.3_Non-coding_Transcript	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	598					immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TCTCACCCAAGAAGAAAGTAA	0.383000														20			7		0	0	0.003080	0	0
CYP3A43	64816	broad.mit.edu	37	7	99447176	99447176	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:99447176G>A	uc003ury.1	+	6	632	c.529G>A	c.(529-531)Ggg>Agg	p.G177R	CYP3A43_uc003urx.1_Missense_Mutation_p.G177R|CYP3A43_uc003urz.1_Missense_Mutation_p.G177R|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_Nonsense_Mutation_p.W39*	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	177			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	CAGTTTCTTTGGGGCCTACAC	0.408000														50			13		0	0	0.002450	0	0
MCTP2	55784	broad.mit.edu	37	15	94927293	94927293	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:94927293G>A	uc002btj.3	+	11	1690	c.1625G>A	c.(1624-1626)cGa>cAa	p.R542Q	MCTP2_uc002bti.2_Missense_Mutation_p.R542Q|MCTP2_uc010boj.3_Missense_Mutation_p.R271Q|MCTP2_uc010bok.3_Missense_Mutation_p.R542Q|MCTP2_uc002btk.4_Missense_Mutation_p.R130Q|MCTP2_uc002btl.3_Missense_Mutation_p.R130Q	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	542	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGCAATGACCGACTTCAGACG	0.433000														13			5		0	0	0.001984	0	0
C15orf2	23742	broad.mit.edu	37	15	24923641	24923641	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:24923641C>T	uc001ywo.3	+	0	3101	c.2627C>T	c.(2626-2628)cCt>cTt	p.P876L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	876					cell differentiation|multicellular organismal development|spermatogenesis			p.P876S(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		ACCAGTTTTCCTGCACAGGCA	0.507000														68			8		0	0	0.003080	0	0
FERMT1	55612	broad.mit.edu	37	20	6065781	6065781	+	Missense_Mutation	SNP	C	T	T	rs151300234		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:6065781C>T	uc002wmr.3	-	11	2314	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	FERMT1_uc002wmq.3_Missense_Mutation_p.E62K|FERMT1_uc010gbt.3_Missense_Mutation_p.E252K	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	509	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						TCCATGTTTTCGAGACTGGAA	0.448000														55			27		0	0	0.002445	0	0
PPM1E	22843	broad.mit.edu	37	17	57058257	57058257	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:57058257G>A	uc002iwx.3	+	6	2260	c.2133G>A	c.(2131-2133)ggG>ggA	p.G711G	PPM1E_uc010ddd.3_Silent_p.G474G	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA.	720					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			CTGGAAGTGGGAAGAGAAATA	0.418000														14			39		0	0	0.006230	0	0
CCR2	729230	broad.mit.edu	37	3	46399939	46399939	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:46399939C>T	uc003cpn.4	+	1	1406	c.921C>T	c.(919-921)ttC>ttT	p.F307F	CCR2_uc003cpm.4_Silent_p.F307F|CCR2_uc021wxa.1_Silent_p.F307F	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	307					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	p.F307F(2)		breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TCTATGCCTTCGTTGGGGAGA	0.498000														77			45		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179637975	179637975	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179637975G>A	uc021vsy.1	-	32	7941	c.7716C>T	c.(7714-7716)atC>atT	p.I2572I	TTN_uc021vsz.1_Silent_p.I2526I|TTN_uc021vta.1_Silent_p.I2526I|TTN_uc021vtb.1_Silent_p.I2526I|TTN_uc002unb.2_Silent_p.I2572I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2572							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)			AACTGGGCTTGATTTCCTTGT	0.348000														13			18		0	0	0.006122	0	0
ZNF616	90317	broad.mit.edu	37	19	52619558	52619558	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:52619558G>A	uc002pym.3	-	3	1142	c.859C>T	c.(859-861)Cat>Tat	p.H287Y	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V286F(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATTCTCTGATGAACTGCAAGG	0.393000														38			20		0	0	0.001882	0	0
SYT14	255928	broad.mit.edu	37	1	210334187	210334187	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:210334187C>T	uc001hhs.4	+	9	1718	c.1660C>T	c.(1660-1662)Caa>Taa	p.Q554*	SYT14_uc001hht.4_Nonsense_Mutation_p.Q509*|SYT14_uc010psn.2_Nonsense_Mutation_p.Q535*|SYT14_uc001hhu.4_Non-coding_Transcript|SYT14_uc010pso.2_Nonsense_Mutation_p.Q452*|SYT14_uc009xcv.3_Nonsense_Mutation_p.Q490*|SYT14_uc010psp.2_Nonsense_Mutation_p.Q28*	NM_001146261	NP_001139733	Q8NB59	SYT14_HUMAN	Homo sapiens synaptotagmin XIV (SYT14), transcript variant 1, mRNA.	490						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TTTTGTCTTTCAAGTGGCCCT	0.413000														57			25		0	0	0.003954	0	0
CYLC1	1538	broad.mit.edu	37	X	83129566	83129566	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:83129566C>T	uc004eei.1	+	3	1871	c.1850C>T	c.(1849-1851)cCa>cTa	p.P617L	CYLC1_uc004eeh.1_Missense_Mutation_p.P616L	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	617	Pro-rich.				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						CCTTCTCTACCATCACCAAAG	0.418000														8			10		0	0	0.001855	0	0
FAM184A	79632	broad.mit.edu	37	6	119332557	119332557	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:119332557C>T	uc003pyj.3	-	5	1918	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	FAM184A_uc003pyk.4_Missense_Mutation_p.E404K|FAM184A_uc003pyl.4_Missense_Mutation_p.E404K	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	524										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTATCCTCTTCCAGGTTTAGT	0.303000														25			7		0	0	0.001984	0	0
ZNF70	7621	broad.mit.edu	37	22	24086478	24086478	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:24086478G>A	uc002zxs.3	-	1	1311	c.850C>T	c.(850-852)Ctc>Ttc	p.L284F	ZNF70_uc021wmu.1_Missense_Mutation_p.L284F	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN	Homo sapiens zinc finger protein 70 (ZNF70), mRNA.	284						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L284V(2)|p.D283N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TTCCCACAGAGATCGCACTCG	0.517000														43			15		0	0	0.004007	0	0
CALCR	799	broad.mit.edu	37	7	93098044	93098044	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:93098044C>T	uc003umv.2	-	7	858	c.558G>A	c.(556-558)ggG>ggA	p.G186G	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Silent_p.G168G|CALCR_uc003umw.2_Silent_p.G168G	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	168					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.G186G(1)|p.G168G(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ACACGAAAATCCCCAGGGAAA	0.388000														46			17		0	0	0.006122	0	0
LDHC	3948	broad.mit.edu	37	11	18451403	18451403	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:18451403C>T	uc001mon.4	+	3	476	c.364C>T	c.(364-366)Cct>Tct	p.P122S	LDHC_uc001mom.4_Missense_Mutation_p.P122S|LDHC_uc009yhp.3_Missense_Mutation_p.P122S|LDHC_uc001moo.4_Missense_Mutation_p.P6S|LDHC_uc009yhq.3_Intron|LDHC_uc009yhr.3_Missense_Mutation_p.P6S	NM_017448	NP_059144	P07864	LDHC_HUMAN	Homo sapiens lactate dehydrogenase C (LDHC), transcript variant 2, mRNA.	122					glycolysis	cytoplasm	L-lactate dehydrogenase activity|binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	ATCAATCATTCCTGCCATAGT	0.423000														56			14		0	0	0.002450	0	0
ACOT12	134526	broad.mit.edu	37	5	80643737	80643737	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:80643737T>A	uc003khl.4	-	5	564	c.509A>T	c.(508-510)gAt>gTt	p.D170V	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	170	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TTCCTCTTCATCAAAAATGAG	0.498000														103			35		0	0	0.003271	0	0
TBX18	9096	broad.mit.edu	37	6	85466564	85466564	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:85466564C>T	uc003pkl.1	-	3	623	c.623G>A	c.(622-624)tGg>tAg	p.W208*	TBX18_uc010kbq.2_Nonsense_Mutation_p.W50*	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	208					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TGCCACCATCCATTTCGAACT	0.483000														21			14		0	0	0.004007	0	0
TMEM57	55219	broad.mit.edu	37	1	25784985	25784986	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:25784985_25784986CC>TT	uc001bkk.3	+	5	958_959	c.756_757CC>TT	c.(754-759)taccga>taTTga	p.R253*	TMEM57_uc009vru.3_Intron|TMEM57_uc009vrv.3_Intron|TMEM57_uc009vrt.2_Non-coding_Transcript	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	253						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGATAGAATACCGAGAAAAAGG	0.376000														59			40		0	0	0.004672	0	0
FRMD1	79981	broad.mit.edu	37	6	168458013	168458013	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:168458013C>T	uc003qwo.4	-	10	1479	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	FRMD1_uc003qwm.4_Missense_Mutation_p.E266K|FRMD1_uc011egs.2_Missense_Mutation_p.E243K|FRMD1_uc011egt.2_Missense_Mutation_p.E407K|FRMD1_uc003qwn.4_Missense_Mutation_p.E404K	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	472						cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCTGTCATTTCCTGGATCTGC	0.662000														18			3		0	0	0.009096	0	0
PAPL	390928	broad.mit.edu	37	19	39591400	39591400	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:39591400C>A	uc002oki.3	+	6	988	c.714C>A	c.(712-714)caC>caA	p.H238Q	PAPL_uc010egl.3_Missense_Mutation_p.T197K	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	238						extracellular region	acid phosphatase activity|metal ion binding										GTCCCGCCCACATCATCTCCT	0.607000														35			14		3.27435e-08	3.59748e-08	0.002450	1	0
FBN3	84467	broad.mit.edu	37	19	8152962	8152962	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:8152962G>A	uc002mjf.3	-	50	6495	c.6478C>T	c.(6478-6480)Ctc>Ttc	p.L2160F	FBN3_uc002mje.3_5'UTR	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2160	EGF-like 34; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GTCATCATGAGGCCAGGCTCA	0.627000														49			24		0	0	0.002780	0	0
COMMD2	51122	broad.mit.edu	37	3	149459388	149459388	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:149459388G>A	uc003exj.2	-	4	575	c.520C>T	c.(520-522)Cat>Tat	p.H174Y		NM_016094	NP_057178	Q86X83	COMD2_HUMAN	Homo sapiens COMM domain containing 2 (COMMD2), mRNA.	174	COMM.						protein binding	p.L173F(1)		NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGAACCAAATGGAGCAGGGTG	0.418000														51			17		0	0	0.004007	0	0
PCSK1	5122	broad.mit.edu	37	5	95734703	95734703	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:95734703G>A	uc003kls.2	-	10	1707	c.1468C>T	c.(1468-1470)Cca>Tca	p.P490S	PCSK1_uc010jbi.2_Missense_Mutation_p.P180S|PCSK1_uc021ybq.1_Missense_Mutation_p.P443S	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	490					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)	GCTCTTGTTGGAATTTCAATG	0.358000														10			5		0	0	0.001168	0	0
MAST2	23139	broad.mit.edu	37	1	46474017	46474017	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:46474017C>T	uc001cov.3	+	8	1235	c.952C>T	c.(952-954)Cat>Tat	p.H318Y	MAST2_uc001cow.3_Missense_Mutation_p.H318Y|MAST2_uc001coy.1_Missense_Mutation_p.H26Y|MAST2_uc001coz.1_Missense_Mutation_p.H203Y|MAST2_uc009vya.3_Missense_Mutation_p.H240Y|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	318					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					AATGATGAATCATGTTTACAA	0.423000														20			10		0	0	0.006214	0	0
AFF2	2334	broad.mit.edu	37	X	147743594	147743594	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:147743594C>T	uc004fcp.3	+	2	825	c.346C>T	c.(346-348)Cca>Tca	p.P116S	AFF2_uc004fco.3_Missense_Mutation_p.P112S|AFF2_uc004fcq.3_Missense_Mutation_p.P112S|AFF2_uc004fcr.3_Missense_Mutation_p.P112S|AFF2_uc011mxb.2_Missense_Mutation_p.P116S|AFF2_uc004fcs.3_Missense_Mutation_p.P112S	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	116					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCTTTTTTCCAGAACAAAA	0.393000														51			94		0	0	0.003610	0	0
TBC1D1	23216	broad.mit.edu	37	4	38138951	38138951	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:38138951G>A	uc003gtb.3	+	19	3860	c.3502G>A	c.(3502-3504)Gac>Aac	p.D1168N	TBC1D1_uc011byd.2_Missense_Mutation_p.D1159N|TBC1D1_uc010ifd.3_Missense_Mutation_p.D955N|TBC1D1_uc021xnh.1_Missense_Mutation_p.D265N|TBC1D1_uc021xni.1_Missense_Mutation_p.D265N|TBC1D1_uc003gtd.3_Missense_Mutation_p.D180N	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	1168						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GCCCACGGGCGACTGACAGCT	0.662000														11			13		0	0	0.002450	0	0
NTSR1	4923	broad.mit.edu	37	20	61391529	61391529	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:61391529G>A	uc002ydf.3	+	3	1538	c.1167G>A	c.(1165-1167)agG>agA	p.R389R		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	389						Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GGCGGCGCAGGAGGAAGAGGC	0.642000														62			15		0	0	0.002450	0	0
PSG4	5672	broad.mit.edu	37	19	43411915	43411915	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:43411915C>T	uc002ovj.1	-	3	897	c.798G>A	c.(796-798)cgG>cgA	p.R266R	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Silent_p.R106R|PSG4_uc002ovg.1_Silent_p.R266R	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	267	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AGGTGTAGTTCCGACTCTTAG	0.498000														169			96		0	0	0.003610	0	0
BEND6	221336	broad.mit.edu	37	6	56879998	56879998	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:56879998G>A	uc010kab.3	+	3	952	c.366G>A	c.(364-366)ggG>ggA	p.G122G	BEND6_uc003pdi.4_Silent_p.G24G	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN	Homo sapiens BEN domain containing 6 (BEND6), mRNA.	122										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						TTAAGGGTGGGGGAACCATGT	0.443000														25			15		0	0	0.004007	0	0
STK19	8859	broad.mit.edu	37	6	31940123	31940123	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:31940123G>A	uc003nyv.3	+	1	393	c.265G>A	c.(265-267)Gac>Aac	p.D89N	DOM3Z_uc003nyp.1_5'Flank|DOM3Z_uc003nyq.1_5'Flank|DOM3Z_uc010jtl.1_5'Flank|STK19_uc003nyt.3_Missense_Mutation_p.D46N|DOM3Z_uc003nyu.1_5'Flank|STK19_uc011dow.2_Missense_Mutation_p.D89N|STK19_uc011dox.1_Missense_Mutation_p.D46N|STK19_uc003nyw.3_Missense_Mutation_p.D89N|STK19_uc010jtn.1_Non-coding_Transcript	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	89			D -> N (in a metastatic melanoma sample; somatic mutation).			nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.D89N(6)|p.E88K(1)		skin(5)|upper_aerodigestive_tract(2)	7						TGCGCCGGAAGACCCTATTTT	0.582000														81			32		0	0	0.003271	0	0
CCDC129	223075	broad.mit.edu	37	7	31683179	31683179	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:31683179G>A	uc011kae.2	+	10	2285	c.2273G>A	c.(2272-2274)gGa>gAa	p.G758E	CCDC129_uc011kad.1_Missense_Mutation_p.G742E|CCDC129_uc003tcj.1_Missense_Mutation_p.G732E|CCDC129_uc003tci.1_Missense_Mutation_p.G583E|CCDC129_uc003tck.1_Missense_Mutation_p.G640E	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	732										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GGTCCCAGAGGAACATCTTTA	0.507000														80			16		0	0	0.006122	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21457408	21457408	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:21457408G>A	uc001rer.3	-	4	793	c.542C>T	c.(541-543)tCc>tTc	p.S181F	SLCO1A2_uc010siq.2_Missense_Mutation_p.S49F|SLCO1A2_uc001res.3_Missense_Mutation_p.S181F|SLCO1A2_uc010sio.2_Missense_Mutation_p.S49F|SLCO1A2_uc010sip.2_Missense_Mutation_p.S49F|SLCO1A2_uc001ret.3_Missense_Mutation_p.S179F|SLCO1A2_uc001reu.2_Missense_Mutation_p.S161F	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	181					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.S181F(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTCTATATAGGAAATACCCAA	0.373000														14			28		0	0	0.005443	0	0
UBE2C	11065	broad.mit.edu	37	20	44443052	44443052	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:44443052C>T	uc002xpm.3	+	2	239	c.159C>T	c.(157-159)ttC>ttT	p.F53F	UBE2C_uc002xpl.3_Silent_p.F53F|UBE2C_uc002xpn.3_Silent_p.F14F|UBE2C_uc002xpo.3_Intron|UBE2C_uc002xpp.3_Intron|UBE2C_uc002xpq.3_Silent_p.F14F	NM_007019	NP_861518	O00762	UBE2C_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2C (UBE2C), transcript variant 1, mRNA.	53					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization	anaphase-promoting complex|cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				TTTCTGCCTTCCCTGAATCAG	0.493000														50			6		0	0	0.001984	0	0
VWA3B	200403	broad.mit.edu	37	2	98928323	98928323	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:98928323C>T	uc002syo.3	+	26	3827	c.3563C>T	c.(3562-3564)cCa>cTa	p.P1188L	VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.P845L|VWA3B_uc002syp.1_Missense_Mutation_p.P580L|VWA3B_uc002syq.1_Missense_Mutation_p.P464L|VWA3B_uc002syr.1_Missense_Mutation_p.P505L|VWA3B_uc002sys.3_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	1188										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTCTTCTGGCCACTGAAAGAA	0.587000														14			3		0	0	0.009096	0	0
KLHL32	114792	broad.mit.edu	37	6	97562297	97562297	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:97562297G>A	uc010kcm.1	+	6	1738	c.1266G>A	c.(1264-1266)aaG>aaA	p.K422K	KLHL32_uc003poy.3_Silent_p.K422K|KLHL32_uc003poz.2_Intron|KLHL32_uc011ead.1_Silent_p.K386K|KLHL32_uc011eae.1_Silent_p.K353K|KLHL32_uc003ppa.2_Intron|MIR548H3_uc021zda.1_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	Homo sapiens kelch-like 32 (Drosophila) (KLHL32), mRNA.	422										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		ATTGCCCCAAGAAGAACAAAT	0.473000														48			11		0	0	0.000978	0	0
F8	2157	broad.mit.edu	37	X	154159406	154159406	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:154159406C>T	uc004fmt.3	-	13	2830	c.2659G>A	c.(2659-2661)Gca>Aca	p.A887T		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	887	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)	AACTCTGTTGCTGCAGTTGTC	0.413000														11			13		0	0	0.002450	0	0
MUC6	4588	broad.mit.edu	37	11	1031885	1031885	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:1031885G>A	uc001lsw.2	-	2	335	c.284C>T	c.(283-285)tCg>tTg	p.S95L		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	95	VWFD 1.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATGATCCGCGAGATGCTCCC	0.657000														39			17		0	0	0.007413	0	0
ASB15	142685	broad.mit.edu	37	7	123267301	123267301	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:123267301C>T	uc003vku.1	+	8	1127	c.835C>T	c.(835-837)Cct>Tct	p.P279S	ASB15_uc003vkv.1_Missense_Mutation_p.P279S|ASB15_uc003vkw.1_Missense_Mutation_p.P279S	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	279					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGGACATCTTCCTATACACCG	0.433000														32			5		0	0	0.000602	0	0
KLK5	25818	broad.mit.edu	37	19	51452009	51452009	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:51452009G>A	uc002pue.3	-	5	831	c.613C>T	c.(613-615)Cag>Tag	p.Q205*	KLK5_uc002puf.3_Nonsense_Mutation_p.Q205*|KLK5_uc002pug.3_Nonsense_Mutation_p.Q205*	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	205	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.L204I(1)		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)		TTCAAGCACTGGAGGACCTTA	0.502000														59			8		0	0	0.003080	0	0
NEB	4703	broad.mit.edu	37	2	152507377	152507377	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:152507377C>T	uc021vrb.1	-	50	6967	c.6938G>A	c.(6937-6939)cGa>cAa	p.R2313Q	NEB_uc002txu.3_Missense_Mutation_p.R2313Q|NEB_uc021vrc.1_Missense_Mutation_p.R2313Q|NEB_uc010fnx.3_Missense_Mutation_p.R2313Q|NEB_uc021vrd.1_Missense_Mutation_p.R2313Q	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2313					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)		AAGTTGCTTTCGGTAGCCTTG	0.393000														93			50		0	0	0.003610	0	0
CTC1	80169	broad.mit.edu	37	17	8135484	8135484	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:8135484G>A	uc002gkq.4	-	12	2181	c.2122C>T	c.(2122-2124)Cat>Tat	p.H708Y	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	708					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GTTGCTGAATGAAGGCAGGGT	0.557000														3			3		0	0	0.004672	0	0
RAB27A	5873	broad.mit.edu	37	15	55497756	55497756	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:55497756G>A	uc002aco.3	-	6	846	c.615C>T	c.(613-615)gcC>gcT	p.A205A	RAB27A_uc002acr.3_Silent_p.A205A|RAB27A_uc002acp.3_Silent_p.A205A|RAB27A_uc002acq.3_Silent_p.A205A	NM_183234	NP_899059	P51159	RB27A_HUMAN	Homo sapiens RAB27A, member RAS oncogene family (RAB27A), transcript variant 2, mRNA.	205					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		GATCCGTAGAGGCATGACCAT	0.483000														86			23		0	0	0.004656	0	0
DOCK2	1794	broad.mit.edu	37	5	169461457	169461457	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:169461457C>T	uc003maf.3	+	34	3602	c.3522C>T	c.(3520-3522)ttC>ttT	p.F1174F	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.F666F	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1174	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding	p.F1174F(2)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAGAACTTCGTGAACCTGG	0.572000														32			13		0	0	0.001368	0	0
POLR1B	84172	broad.mit.edu	37	2	113316947	113316947	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:113316947C>T	uc002thw.2	+	8	1988	c.1408C>T	c.(1408-1410)Cgc>Tgc	p.R470C	POLR1B_uc010fkn.2_Missense_Mutation_p.R414C|POLR1B_uc002thx.2_Missense_Mutation_p.R331C|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Intron|POLR1B_uc002thy.2_Missense_Mutation_p.R331C|POLR1B_uc010yxo.1_Missense_Mutation_p.R247C	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	470					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CTCCCATTTCCGCTGCGTGCA	0.517000														134			37		0	0	0.004878	0	0
CUL9	23113	broad.mit.edu	37	6	43172719	43172719	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:43172719C>T	uc003ouk.3	+	22	4573	c.4498C>T	c.(4498-4500)Cgt>Tgt	p.R1500C	CUL9_uc003oul.3_Missense_Mutation_p.R1500C|CUL9_uc010jyk.3_Missense_Mutation_p.R652C	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1500					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTTTGTGCCTCGTTACTGTAA	0.577000														86			49		0	0	0.003610	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058366	152058366	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152058366C>T	uc001ezo.1	-	2	1857	c.1792G>A	c.(1792-1794)Gga>Aga	p.G598R		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	598							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)			CCAGGTGTTCCCTGCCTCTGG	0.552000														90			52		0	0	0.003610	0	0
OR2A25	392138	broad.mit.edu	37	7	143771368	143771368	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:143771368G>A	uc011ktx.2	+	0	56	c.56G>A	c.(55-57)gGc>gAc	p.G19D		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)					TTTCCCATTGGCCCAAGGATT	0.498000														61			28		0	0	0.007291	0	0
FKBP9L	360132	broad.mit.edu	37	7	55752937	55752938	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:55752937_55752938CC>TT	uc010kzl.3	-	4	612_613	c.512_513GG>AA	c.(511-513)tgg>tAA	p.W171*	FKBP9L_uc010kzk.3_Nonsense_Mutation_p.W60*|FKBP9L_uc003tqt.3_Nonsense_Mutation_p.W60*|FKBP9L_uc011kcs.2_Nonsense_Mutation_p.W60*|U6_uc022adq.1_5'Flank					Homo sapiens FK506 binding protein 9-like (FKBP9L), transcript variant 4, non-coding RNA.											endometrium(1)|kidney(1)|lung(3)	5						CCTCACCATTCCATATGAACAT	0.520000														22			4		0	0	0.004672	0	0
CXorf22	170063	broad.mit.edu	37	X	35944275	35944275	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:35944275C>T	uc004ddj.3	+	1	457	c.391C>T	c.(391-393)Cct>Tct	p.P131S	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	131										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AACAGAAATTCCTCTAATTGG	0.318000														3			6		0	0	0.001984	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874853	80874853	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:80874853G>A	uc010ysh.2	+	17	2723	c.2718G>A	c.(2716-2718)tgG>tgA	p.W906*	CTNNA2_uc010yse.2_Nonsense_Mutation_p.W858*|CTNNA2_uc010ysf.2_Nonsense_Mutation_p.W858*|CTNNA2_uc010ysg.2_Nonsense_Mutation_p.W813*|CTNNA2_uc010ysi.2_Nonsense_Mutation_p.W490*|CTNNA2_uc010ysj.2_Nonsense_Mutation_p.W187*	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	906					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TTGTGTCTTGGAAGATGAAGG	0.483000														86			54		0	0	0.003610	0	0
SVOPL	136306	broad.mit.edu	37	7	138329483	138329483	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:138329483C>T	uc011kqh.2	-	7	768	c.768G>A	c.(766-768)ggG>ggA	p.G256G	SVOPL_uc003vue.3_Silent_p.G104G	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	256						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CCACCAGCTTCCCCTCCGGCA	0.627000														25			17		0	0	0.008871	0	0
MALAT1	378938	broad.mit.edu	37	11	65266490	65266490	+	RNA	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:65266490A>G	uc010roh.2	+	0		c.1258A>G								Homo sapiens metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) (MALAT1), non-coding RNA.																		TCCGTCTATAAATACGCCTCG	0.537000														74			28		0	0	0.002445	0	0
PRKAA2	5563	broad.mit.edu	37	1	57169990	57169990	+	Nonsense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:57169990A>T	uc001cyk.4	+	6	1206	c.1135A>T	c.(1135-1137)Aaa>Taa	p.K379*		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	379					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						AGACAGCCCCAAAGCAAGATG	0.468000														34			21		0	0	0.002299	0	0
RAET1K	646024	broad.mit.edu	37	6	150322216	150322216	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:150322216C>T	uc003qnq.3	-	1		c.661G>A								Homo sapiens retinoic acid early transcript 1K pseudogene (RAET1K), non-coding RNA.																		TCTGCCGTGTCCGTGGGCTTC	0.512000														26			13		0	0	0.001855	0	0
CDH13	1012	broad.mit.edu	37	16	83251002	83251002	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:83251002G>A	uc010vns.2	+	5	941	c.677G>A	c.(676-678)gGa>gAa	p.G226E	CDH13_uc002fgx.3_Missense_Mutation_p.G179E|CDH13_uc010vnt.2_5'UTR|CDH13_uc010vnu.2_Missense_Mutation_p.G140E	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	179	Cadherin 1.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ACTGGAAAGGGAGTGGATCAA	0.458000														32			13		0	0	0.003163	0	0
ZNF679	168417	broad.mit.edu	37	7	63726795	63726795	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:63726795C>T	uc003tsx.3	+	4	1053	c.784C>T	c.(784-786)Cat>Tat	p.H262Y		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TAGGAGAATTCATACTGGAGA	0.418000														6			3		0	0	0.009096	0	0
HMGCS2	3158	broad.mit.edu	37	1	120306903	120306903	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:120306903C>T	uc001eid.3	-	1	539	c.451G>A	c.(451-453)Gat>Aat	p.D151N	HMGCS2_uc010oxj.2_Missense_Mutation_p.D151N|HMGCS2_uc021osx.1_Missense_Mutation_p.D59N	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	151					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TTGCCTGAATCCTGGAAGAGT	0.512000														344			156		0	0	0.003610	0	0
SLC35F3	148641	broad.mit.edu	37	1	234445036	234445036	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:234445036C>T	uc001hvy.1	+	3	943	c.798C>T	c.(796-798)atC>atT	p.I266I	SLC35F3_uc001hwa.1_Silent_p.I197I	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	197					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TCTCATGGATCGTTCTCAGGG	0.443000														37			16		0	0	0.006122	0	0
TNS4	84951	broad.mit.edu	37	17	38652542	38652542	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:38652542C>T	uc010cxb.3	-	1	300	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	46					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCCCAGCCTTCCGTGGTGTAG	0.677000														12			37		0	0	0.004878	0	0
C9orf71	169693	broad.mit.edu	37	9	71152396	71152396	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:71152396G>A	uc004agt.3	-	1	345	c.292C>T	c.(292-294)Cct>Tct	p.P98S	AK130904_uc004ags.1_Non-coding_Transcript	NM_153237	NP_694969	Q8N6L7	CI071_HUMAN	Homo sapiens chromosome 9 open reading frame 71 (C9orf71), mRNA.	98						integral to membrane				endometrium(1)|lung(2)|prostate(1)	4						TAAGCTGGAGGGTAAAAGTCT	0.507000														20			18		0	0	0.007413	0	0
ATP12A	479	broad.mit.edu	37	13	25272843	25272843	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:25272843G>A	uc010aaa.3	+	11	1911	c.1578G>A	c.(1576-1578)atG>atA	p.M526I	ATP12A_uc001upp.3_Missense_Mutation_p.M520I	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	520					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GCTTCCTCATGGTGATGAAGG	0.552000														27			7		0	0	0.001984	0	0
KCNC3	3748	broad.mit.edu	37	19	50826917	50826917	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:50826917G>A	uc002pru.1	-	1	1588	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	KCNC3_uc002prt.1_Silent_p.F67F	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	431					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GCAGCCCCACGAAGTGCCGGG	0.657000														19			10		0	0	0.000978	0	0
NCR2	9436	broad.mit.edu	37	6	41303840	41303840	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:41303840C>T	uc003oqh.2	+	1	155	c.68C>T	c.(67-69)tCc>tTc	p.S23F	NCR2_uc003oqj.2_Missense_Mutation_p.S23F|NCR2_uc003oqi.2_Missense_Mutation_p.S23F	NM_004828	NP_004819	O95944	NCTR2_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 2 (NCR2), transcript variant 1, mRNA.	23	Ig-like.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					CAGGCACAATCCAAGGCTCAG	0.577000														24			13		0	0	0.003163	0	0
LAMA1	284217	broad.mit.edu	37	18	6965358	6965358	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:6965358G>A	uc002knm.3	-	49	7218	c.7124C>T	c.(7123-7125)aCc>aTc	p.T2375I	LAMA1_uc002knl.3_5'UTR|LAMA1_uc010wzj.2_Missense_Mutation_p.T1851I	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2375	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTCAAAAGGGTAATGGGTCC	0.458000														59			16		0	0	0.004990	0	0
DACH1	1602	broad.mit.edu	37	13	72063191	72063191	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:72063191G>A	uc021rkj.1	-	6	2089	c.1666C>T	c.(1666-1668)Cca>Tca	p.P556S	DACH1_uc021rkk.1_Missense_Mutation_p.P408S|DACH1_uc021rkl.1_Missense_Mutation_p.P354S	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	606					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AAAGGAGATGGAAAACCTGGA	0.468000														80			58		0	0	0.003610	0	0
CACNA1A	773	broad.mit.edu	37	19	13409891	13409891	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:13409891C>T	uc002mwy.3	-	18	2792	c.2556G>A	c.(2554-2556)caG>caA	p.Q852Q	CACNA1A_uc010dzc.2_Silent_p.Q378Q|CACNA1A_uc010xnd.2_Silent_p.Q855Q|CACNA1A_uc021ups.1_Silent_p.Q852Q|CACNA1A_uc010xne.2_Silent_p.Q855Q|CACNA1A_uc010dze.2_Silent_p.Q852Q|CACNA1A_uc021upt.1_Silent_p.Q853Q	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	853					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.G851C(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCTCGGCGCGCTGCTGGCCGA	0.726000														13			8		0	0	0.003080	0	0
SIRPG	55423	broad.mit.edu	37	20	1629810	1629810	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:1629810G>A	uc002wfm.1	-	1	383	c.318C>T	c.(316-318)atC>atT	p.I106I	SIRPG_uc002wfn.1_Silent_p.I106I|SIRPG_uc002wfo.1_Silent_p.I106I	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	106	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding	p.R105S(1)|p.R105C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TGATGCTACTGATGCGGATGG	0.478000														103			12		0	0	0.001855	0	0
ATP8B4	79895	broad.mit.edu	37	15	50211080	50211080	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:50211080G>A	uc001zxu.3	-	18	2133	c.1991C>T	c.(1990-1992)tCa>tTa	p.S664L	ATP8B4_uc010ber.3_Missense_Mutation_p.S537L|ATP8B4_uc010ufd.2_Missense_Mutation_p.S474L|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	664					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	p.S664L(2)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATTGGCTAGTGATAAACTTGT	0.343000														51			13		0	0	0.006122	0	0
CD1B	910	broad.mit.edu	37	1	158299729	158299729	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158299729C>T	uc001frx.3	-	2	628	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	CD1B_uc001frw.3_Missense_Mutation_p.E174K	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	174					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CTCACAGTTTCCATGATACCT	0.468000														64			35		0	0	0.003271	0	0
CADM3	57863	broad.mit.edu	37	1	159169565	159169565	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:159169565C>T	uc001ftl.2	+	7	1156	c.977C>T	c.(976-978)tCc>tTc	p.S326F	CADM3_uc001ftk.2_Missense_Mutation_p.S360F|LOC100131825_uc001ftm.2_Intron	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	326					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CCCTCCTCCTCCAGCACCTAC	0.532000														39			11		0	0	0.001368	0	0
DGKK	139189	broad.mit.edu	37	X	50129459	50129459	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:50129459G>A	uc010njr.2	-	14	2288	c.2244C>T	c.(2242-2244)ttC>ttT	p.F748F		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	748					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTTGAGGAATGAAGGGCTTCC	0.473000														12			31		0	0	0.002445	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408164	105408164	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:105408164G>A	uc010axc.1	-	6	13744	c.13624C>T	c.(13624-13626)Ctc>Ttc	p.L4542F	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.L4442F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4542						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCCCTTTGAGGCCGGCTACC	0.632000														121			28		0	0	0.005443	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214243	3214243	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:3214243C>T	uc002fvi.2	+	0	705	c.639C>T	c.(637-639)ccC>ccT	p.P213P						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		GTGTGGCCCCCTTGGTCCTCA	0.562000														32			32		0	0	0.002096	0	0
SVEP1	79987	broad.mit.edu	37	9	113241922	113241922	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:113241922C>T	uc010mtz.3	-	12	2817	c.2480G>A	c.(2479-2481)gGa>gAa	p.G827E	SVEP1_uc010mua.1_Missense_Mutation_p.G827E|SVEP1_uc004beu.2_Missense_Mutation_p.G827E	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	827					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TACCATTTTTCCCAGGGTCGT	0.388000														161			34		0	0	0.006230	0	0
GPR183	1880	broad.mit.edu	37	13	99947367	99947367	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:99947367C>T	uc001vog.3	-	1	1207	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	UBAC2_uc001voa.4_Intron|UBAC2_uc010tiu.2_Intron|UBAC2_uc001vob.4_Intron|UBAC2_uc010tiv.2_Intron|UBAC2_uc001vod.3_Intron|UBAC2_uc001voc.3_Intron|UBAC2_uc010tiw.2_Intron|MIR548AN_uc021rly.1_Intron|GPR183_uc021rma.1_Missense_Mutation_p.E345K	NM_004951	NP_004942	P32249	GP183_HUMAN	Homo sapiens G protein-coupled receptor 183 (GPR183), mRNA.	345					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						TCTGTCATTTCACGTGAATTT	0.378000														35			13		0	0	0.002450	0	0
ITIH5	80760	broad.mit.edu	37	10	7679298	7679298	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:7679298G>A	uc021pmv.1	-	4	651	c.545C>T	c.(544-546)tCc>tTc	p.S182F	ITIH5_uc001ijr.2_Missense_Mutation_p.S182F	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	182					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CAGCCTCCCGGACAGCTGCTG	0.632000														31			9		0	0	0.006214	0	0
ABCA8	10351	broad.mit.edu	37	17	66928482	66928482	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:66928482C>T	uc002jhq.3	-	6	1084	c.744G>A	c.(742-744)agG>agA	p.R248R	ABCA8_uc002jhp.3_Silent_p.R248R|ABCA8_uc010wqq.2_Silent_p.R248R|ABCA8_uc010wqr.2_Silent_p.R187R|ABCA8_uc002jhr.3_Silent_p.R248R|ABCA8_uc002jhs.3_Silent_p.R248R|ABCA8_uc002jht.3_Silent_p.R248R	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	248						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCATCCTTTTCCTCTCTCTTG	0.388000														12			10		0	0	0.006214	0	0
PPFIA2	8499	broad.mit.edu	37	12	81734885	81734885	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:81734885G>A	uc001szo.2	-	19	2526	c.2365C>T	c.(2365-2367)Cct>Tct	p.P789S	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.P715S|PPFIA2_uc021rbh.1_Missense_Mutation_p.P690S|PPFIA2_uc021rbi.1_Missense_Mutation_p.P789S|PPFIA2_uc021rbj.1_Missense_Mutation_p.P789S|PPFIA2_uc021rbk.1_Missense_Mutation_p.P771S|PPFIA2_uc021rbl.1_Missense_Mutation_p.P789S|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.P356S|PPFIA2_uc021rbf.1_Missense_Mutation_p.P6S	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.	715										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						TAGGAAGAAGGGAGAGTGTGA	0.473000														21			31		0	0	0.002445	0	0
ACRBP	84519	broad.mit.edu	37	12	6749294	6749294	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:6749294C>T	uc001qpu.1	-	7	1405	c.1357G>A	c.(1357-1359)Gat>Aat	p.D453N	LPAR5_uc010sff.1_5'Flank|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Missense_Mutation_p.D420N	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	Homo sapiens acrosin binding protein (ACRBP), mRNA.	453						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						ACTCGGACATCTTCACAGCCT	0.567000														17			20		0	0	0.002299	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919780	142919780	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142919780C>T	uc011ksx.2	+	0	609	c.609C>T	c.(607-609)ttC>ttT	p.F203F		NM_176882	NP_795363	P59535	T2R40_HUMAN	Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA.	203					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TGGGGATCTTCGTTCCTCTGA	0.502000														45			28		0	0	0.007291	0	0
LIN28B	389421	broad.mit.edu	37	6	105526491	105526491	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:105526491G>A	uc003pqv.1	+	3	789	c.586G>A	c.(586-588)Gga>Aga	p.G196R	LIN28B_uc010kda.1_3'UTR	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN	Homo sapiens lin-28 homolog B (C. elegans) (LIN28B), mRNA.	196					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|protein binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				TCGAGAAGTGGGAGGCGGGCA	0.552000														23			14		0	0	0.002450	0	0
GDF5	8200	broad.mit.edu	37	20	34025277	34025277	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:34025277G>A	uc010gfc.1	-	0	673	c.432C>T	c.(430-432)ttC>ttT	p.F144F	GDF5_uc002xck.1_Silent_p.F144F	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	144					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TCTTCAGCAGGAAGGAGCTGG	0.637000														87			18		0	0	0.007413	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222729	140222729	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140222729C>T	uc003lhs.2	+	0	1823	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.S608L	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	621	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S608L(4)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTTTCGTATGAGCTG	0.682000														38			10		0	0	0.000978	0	0
ABCB11	8647	broad.mit.edu	37	2	169780224	169780224	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:169780224C>T	uc002ueo.1	-	27	4000	c.3874G>A	c.(3874-3876)Ggg>Agg	p.G1292R	ABCB11_uc010zda.1_Missense_Mutation_p.G710R|ABCB11_uc010zdb.1_Missense_Mutation_p.G768R	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1292	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ATCACCACCCCCTGTGCCATG	0.527000														32			18		0	0	0.006122	0	0
CLU	1191	broad.mit.edu	37	8	27456060	27456060	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:27456060G>A	uc003xfy.2	-	7	1437	c.1290C>T	c.(1288-1290)gtC>gtT	p.V430V	CLU_uc003xfw.2_Silent_p.V419V|CLU_uc003xfx.2_Silent_p.V419V|CLU_uc003xfz.2_Silent_p.V419V	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	419					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CTTCTACAGGGACCGTCACAG	0.542000														70			9		0	0	0.006214	0	0
HCN3	57657	broad.mit.edu	37	1	155255658	155255658	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:155255658C>T	uc001fjz.1	+	5	1388	c.1380C>T	c.(1378-1380)tcC>tcT	p.S460S	HCN3_uc010pfz.1_Silent_p.S155S	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	460						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTGAGGGCTCCGTGGGGAGGA	0.637000														87			38		0	0	0.006999	0	0
ANKRD24	170961	broad.mit.edu	37	19	4216717	4216717	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:4216717A>C	uc010dtt.1	+	17	1836	c.1560A>C	c.(1558-1560)agA>agC	p.R520S	ANKRD24_uc002lzs.2_Missense_Mutation_p.R491S|ANKRD24_uc002lzt.2_Missense_Mutation_p.R492S	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	520										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		AGGTCCCCAGAGAAGAGGGGG	0.627000														6			3		0	0	0.004672	0	0
SLC35D3	340146	broad.mit.edu	37	6	137243769	137243769	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:137243769C>A	uc003qhe.3	+	0	368	c.203C>A	c.(202-204)cCc>cAc	p.P68H		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	Homo sapiens solute carrier family 35, member D3 (SLC35D3), mRNA.	68					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		ATCGCCGTGCCCCCCTTCGGT	0.716000														19			13		1.05317e-09	1.15884e-09	0.002450	1	0
WFDC8	90199	broad.mit.edu	37	20	44190850	44190850	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:44190850G>A	uc002xow.3	-	1	114	c.35C>T	c.(34-36)cCt>cTt	p.P12L	WFDC8_uc002xox.3_Missense_Mutation_p.P12L|5S_rRNA_uc021wek.1_5'Flank	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	12						extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GCTATGGAGAGGAAAGTGCCT	0.498000														12			9		0	0	0.004482	0	0
C3	718	broad.mit.edu	37	19	6697421	6697421	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:6697421C>T	uc002mfm.3	-	20	2792	c.2730G>A	c.(2728-2730)gtG>gtA	p.V910V		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	910					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCTTGACTTCCACTTCCTGCA	0.567000														39			8		0	0	0.003080	0	0
OR10G8	219869	broad.mit.edu	37	11	123900509	123900509	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:123900509C>T	uc001pzp.1	+	0	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGTACTACTTCCTCACCAACC	0.532000														62			9		0	0	0.006214	0	0
LRP2	4036	broad.mit.edu	37	2	170097749	170097749	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:170097749G>A	uc002ues.3	-	24	4007	c.3794C>T	c.(3793-3795)gCc>gTc	p.A1265V	LRP2_uc010zdf.1_Missense_Mutation_p.A1128V	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1265	LDL-receptor class A 13.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGGGACACAGGCATTGTGCTC	0.502000														63			25		0	0	0.005443	0	0
ZNF648	127665	broad.mit.edu	37	1	182025607	182025607	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:182025607G>A	uc001goz.3	-	1	1747	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	ZNF648_uc021pfu.1_Silent_p.F513F	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						AGGCAATGCGGAAGGCCCTGC	0.622000														16			8		0	0	0.003080	0	0
SLC14A2	8170	broad.mit.edu	37	18	43204774	43204774	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:43204774G>A	uc002lbe.3	+	1	961	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	SLC14A2_uc002lbb.3_Missense_Mutation_p.E49K|SLC14A2_uc010dnj.3_Missense_Mutation_p.E49K	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	49						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AATGCCTGAAGAAAAGGTGAG	0.557000														34			14		0	0	0.004990	0	0
ATP8B3	148229	broad.mit.edu	37	19	1802530	1802530	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:1802530C>T	uc002ltw.3	-	10	1253	c.1019G>A	c.(1018-1020)aGg>aAg	p.R340K	ATP8B3_uc002ltv.3_Missense_Mutation_p.R287K|ATP8B3_uc002ltx.3_Non-coding_Transcript|ATP8B3_uc002lty.1_Missense_Mutation_p.R88K|ATP8B3_uc002ltz.1_Missense_Mutation_p.R287K	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	340					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTGCGAATCCTGCAGCCTCG	0.562000														25			5		0	0	0.000602	0	0
PKD1L1	168507	broad.mit.edu	37	7	47930266	47930266	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:47930266G>A	uc003tny.2	-	15	2583	c.2549C>T	c.(2548-2550)tCc>tTc	p.S850F		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	850	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGCCTCAAAGGAAACAGTGGG	0.582000														39			10		0	0	0.006214	0	0
FRMD5	84978	broad.mit.edu	37	15	44166556	44166556	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:44166556C>T	uc001ztl.3	-	13	1417	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	FRMD5_uc001ztj.1_Missense_Mutation_p.E87K|FRMD5_uc001ztk.1_Missense_Mutation_p.E320K|FRMD5_uc010uef.2_Missense_Mutation_p.E87K|FRMD5_uc001ztm.3_Missense_Mutation_p.E87K|FRMD5_uc001ztn.3_Missense_Mutation_p.E180K	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA.	414						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		GCTACTCGCTCATTGCTATCT	0.597000														43			13		0	0	0.002450	0	0
KCNB1	3745	broad.mit.edu	37	20	47990547	47990547	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	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														142			60		0	0	0.003610	0	0
CSMD1	64478	broad.mit.edu	37	8	3038724	3038724	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:3038724G>A	uc022aqr.1	-	36	6023	c.5633C>T	c.(5632-5634)cCg>cTg	p.P1878L	CSMD1_uc011kwj.2_Missense_Mutation_p.P1271L|CSMD1_uc003wqe.3_Missense_Mutation_p.P1035L|CSMD1_uc010lrg.3_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1879	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)		CAGCAGTGCCGGTACTGTGGT	0.393000														21			6		0	0	0.003080	0	0
DEFA6	1671	broad.mit.edu	37	8	6782404	6782404	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:6782404G>A	uc003wqt.3	-	1	280	c.239C>T	c.(238-240)tCa>tTa	p.S80L		NM_001926	NP_001917	Q01524	DEF6_HUMAN	Homo sapiens defensin, alpha 6, Paneth cell-specific (DEFA6), mRNA.	80					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		ATATTCTGTTGAATAACAGGA	0.468000														44			21		0	0	0.003330	0	0
RIMS2	9699	broad.mit.edu	37	8	104898041	104898041	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:104898041A>G	uc003yls.3	+	1	789	c.548A>G	c.(547-549)gAa>gGa	p.E183G	RIMS2_uc003ylp.3_Missense_Mutation_p.E405G|RIMS2_uc003ylw.2_Missense_Mutation_p.E213G|RIMS2_uc003ylq.3_Missense_Mutation_p.E213G|RIMS2_uc003ylr.3_Missense_Mutation_p.E213G	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	436	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.N183D(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GCTGCCATGGAAAATCAGCGA	0.458000										HNSCC(12;0.0054)				26			14		0	0	0.003163	0	0
AMICA1	120425	broad.mit.edu	37	11	118074198	118074198	+	Silent	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:118074198C>A	uc001psk.2	-	5	891	c.717G>T	c.(715-717)ggG>ggT	p.G239G	AMICA1_uc001psg.2_Silent_p.G49G|AMICA1_uc001psh.2_Silent_p.G200G|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Silent_p.G229G|AMICA1_uc010rxw.1_Silent_p.G200G|AMICA1_uc010rxx.1_Silent_p.G239G|AMICA1_uc001psl.1_Silent_p.G195G	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	239	Ig-like V-type 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACACCAGGTTCCCTAGGTGGA	0.527000														65			59		3.30712e-30	3.65823e-30	0.003610	1	0
RTP2	344892	broad.mit.edu	37	3	187416406	187416406	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:187416406C>T	uc003fro.1	-	1	987	c.558G>A	c.(556-558)ccG>ccA	p.P186P		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 2 (RTP2), mRNA.	186					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	p.P186T(1)		large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CCTGGGCCCTCGGCTTGGAGG	0.602000														37			9		0	0	0.004482	0	0
VGLL1	51442	broad.mit.edu	37	X	135618372	135618372	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:135618372G>A	uc004ezy.3	+	1	363	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_016267	NP_057351	Q99990	VGLL1_HUMAN	Homo sapiens vestigial like 1 (Drosophila) (VGLL1), mRNA.	65					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					GAGTCAGAGTGAAGGTGTGAT	0.527000														13			33		0	0	0.006999	0	0
GALNT5	11227	broad.mit.edu	37	2	158156154	158156154	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:158156154G>A	uc002tzg.3	+	5	2347	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	698	Catalytic subdomain B.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TTGGGGTGGGGAAAATATGGA	0.378000														31			12		0	0	0.002450	0	0
HECTD1	25831	broad.mit.edu	37	14	31642629	31642629	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:31642629G>A	uc001wrc.1	-	5	1378	c.889C>T	c.(889-891)Ctt>Ttt	p.L297F		NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	297					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GACCTCAGAAGATCCTAGAAA	0.353000														21			15		0	0	0.002450	0	0
abParts	0	broad.mit.edu	37	14	107199206	107199206	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:107199206C>T	uc021ser.1	-	16		c.1483G>A								Parts of antibodies, mostly variable regions.																		GACCAAGCCTCCCCCAGACTC	0.582000														33			22		0	0	0.002299	0	0
MGAM	8972	broad.mit.edu	37	7	141796206	141796206	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:141796206C>T	uc003vwy.3	+	41	5049	c.4995C>T	c.(4993-4995)gtC>gtT	p.V1665V		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1665	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)	TCAGCCCTGTCCTGGAGCGTG	0.597000														27			13		0	0	0.003163	0	0
OR2A5	393046	broad.mit.edu	37	7	143747527	143747527	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:143747527C>T	uc011ktw.2	+	0	33	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCACAGAATTCATTCTCCTGG	0.502000														75			27		0	0	0.007291	0	0
PODXL	5420	broad.mit.edu	37	7	131195814	131195814	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:131195814C>T	uc003vqw.4	-	1	737	c.479G>A	c.(478-480)gGg>gAg	p.G160E	PODXL_uc003vqx.4_Missense_Mutation_p.G160E	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	160	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GCTGCTTTTCCCCCCAGAGTT	0.522000														153			20		0	0	0.003330	0	0
ARHGAP19	84986	broad.mit.edu	37	10	98995003	98995003	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:98995003G>A	uc001knb.3	-	8	1301	c.1255C>T	c.(1255-1257)Cgt>Tgt	p.R419C	ARHGAP19_uc001kmy.3_Non-coding_Transcript|ARHGAP19_uc001kna.3_Missense_Mutation_p.R410C|ARHGAP19_uc009xvj.3_Missense_Mutation_p.R390C|ARHGAP19_uc009xvi.3_Non-coding_Transcript|ARHGAP19_uc009xvk.3_Missense_Mutation_p.R213C	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Homo sapiens Rho GTPase activating protein 19 (ARHGAP19), transcript variant 1, mRNA.	419					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		GAGCGCGAACGAGCCCTCTTT	0.398000														104			26		0	0	0.006320	0	0
CELA1	1990	broad.mit.edu	37	12	51733658	51733658	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:51733658G>A	uc001ryi.1	-	5	636	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C		NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 1 (CELA1), mRNA.	199	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CATCCAGAGCGAACTCCATCT	0.602000														13			25		0	0	0.004656	0	0
TRIM8	81603	broad.mit.edu	37	10	104416605	104416605	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:104416605C>T	uc001kvz.2	+	5	1273	c.1150C>T	c.(1150-1152)Cca>Tca	p.P384S		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	Homo sapiens tripartite motif containing 8 (TRIM8), mRNA.	384						PML body|cytoplasm	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AACGGCCTTCCCAGAGGCCAG	0.697000														91			26		0	0	0.007291	0	0
SNRPA	6626	broad.mit.edu	37	19	41269505	41269505	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:41269505C>T	uc002ooz.3	+	4	1169	c.614C>T	c.(613-615)cCa>cTa	p.P205L		NM_004596	NP_004587	P09012	SNRPA_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide A (SNRPA), mRNA.	205	Pro-rich.					nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCTGAGAATCCACCGAATCAC	0.562000														80			25		0	0	0.005443	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15580404	15580404	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15580404G>A	uc002nbg.3	-	3	1813	c.1680C>T	c.(1678-1680)ccC>ccT	p.P560P	PGLYRP2_uc002nbf.4_Intron	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	0					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TGTAGACGGAGGGGCGGCGGG	0.697000														8			4		0	0	0.009096	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110453508	110453508	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:110453508C>T	uc003yne.3	+	33	4208	c.4104C>T	c.(4102-4104)tcC>tcT	p.S1368S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1368	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.S1370S(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTCTAGGGTCCATCCCTTGCA	0.303000										HNSCC(38;0.096)				11			3		0	0	0.004672	0	0
DSP	1832	broad.mit.edu	37	6	7579759	7579759	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:7579759C>T	uc003mxp.1	+	22	3615	c.3336C>T	c.(3334-3336)acC>acT	p.T1112T	DSP_uc003mxq.1_Silent_p.T1112T|DSP_uc021yle.1_Silent_p.T1112T	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1112	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGAAGATCACCCGACTGACTT	0.428000														45			16		0	0	0.003163	0	0
ALPK3	57538	broad.mit.edu	37	15	85383221	85383221	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:85383221C>T	uc002ble.3	+	4	1484	c.1317C>T	c.(1315-1317)gtC>gtT	p.V439V		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	439					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCCCTCGGTCCCTACCAGGG	0.657000														13			9		0	0	0.004482	0	0
PRSS35	167681	broad.mit.edu	37	6	84233867	84233867	+	Missense_Mutation	SNP	C	T	T	rs145431726		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:84233867C>T	uc003pjz.3	+	1	947	c.707C>T	c.(706-708)tCt>tTt	p.S236F	PRSS35_uc010kbm.3_Missense_Mutation_p.S236F|PRSS35_uc021zce.1_Missense_Mutation_p.S236F	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	236	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.K235Q(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		AGAAAAAAATCTGGCCGGGGT	0.572000														28			9		0	0	0.006214	0	0
GPC5	2262	broad.mit.edu	37	13	93518546	93518546	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:93518546G>A	uc010tif.2	+	7	1939	c.1573G>A	c.(1573-1575)Gat>Aat	p.D525N		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	525						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GATGCCAGATGATATGAACTT	0.433000														20			14		0	0	0.004007	0	0
DUSP7	1849	broad.mit.edu	37	3	52088020	52088020	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:52088020G>A	uc003dct.3	-	1	967	c.888C>T	c.(886-888)atC>atT	p.I296I	DUSP7_uc010hma.2_Silent_p.I296I	NM_001947	NP_001938	Q16829	DUS7_HUMAN	Homo sapiens dual specificity phosphatase 7 (DUSP7), mRNA.	296					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAGAGATGGGGATCTGCTTGT	0.577000														58			27		0	0	0.004656	0	0
PLCE1	51196	broad.mit.edu	37	10	96025694	96025694	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:96025694C>T	uc001kjk.3	+	15	4894	c.4260C>T	c.(4258-4260)tcC>tcT	p.S1420S	PLCE1_uc010qnx.2_Silent_p.S1404S|PLCE1_uc001kjm.3_Silent_p.S1112S	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1420	PI-PLC X-box.				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAGGAGAATCCTCGGTAGAAC	0.428000														36			13		0	0	0.006122	0	0
DNAJA2	10294	broad.mit.edu	37	16	47001557	47001557	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:47001557G>A	uc002eeo.2	-	5	586	c.444_splice	c.e5-1	p.G148_splice		NM_005880	NP_005871	O60884	DNJA2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 2 (DNAJA2), mRNA.	148					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				TTTCCGCCTTGGCTAAAGCAA	0.468000														71			20		0	0	0.001882	0	0
VNN2	8875	broad.mit.edu	37	6	133078615	133078616	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:133078615_133078616GG>AA	uc003qdt.3	-	1	294_295	c.283_284CC>TT	c.(283-285)cct>TTt	p.P95F	VNN2_uc003qds.3_5'UTR|VNN2_uc010kgb.3_Missense_Mutation_p.P95F|VNN2_uc003qdv.3_Missense_Mutation_p.P42F	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	95	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CTCCAGATAAGGGAAAACAGTT	0.401000														28			21		0	0	0.004672	0	0
ILDR2	387597	broad.mit.edu	37	1	166904650	166904650	+	Silent	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:166904650A>C	uc001gdx.2	-	5	824	c.768T>G	c.(766-768)ccT>ccG	p.P256P		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	256						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGATGGAGTAAGGGCCGGGGA	0.592000														42			23		0	0	0.002780	0	0
MAS1	4142	broad.mit.edu	37	6	160328631	160328632	+	Missense_Mutation	DNP	GG	AA	AA	rs147542691		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:160328631_160328632GG>AA	uc003qsz.3	+	0	658_659	c.644_645GG>AA	c.(643-645)cgg>cAA	p.R215Q		NM_002377	NP_002368	P04201	MAS_HUMAN	Homo sapiens MAS1 oncogene (MAS1), mRNA.	215					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		GTGAAGATCCGGAAGAACACGT	0.495000														36			16		0	0	0.004672	0	0
TMEM225	338661	broad.mit.edu	37	11	123753976	123753976	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:123753976C>T	uc001pzi.3	-	3	755	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	183						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TTCTCAGATTCCTTACATTCG	0.423000														25			5		0	0	0.000602	0	0
RNF19B	127544	broad.mit.edu	37	1	33404090	33404090	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:33404090G>A	uc010oho.2	-	7	1653	c.1653C>T	c.(1651-1653)ccC>ccT	p.P551P	RNF19B_uc001bwm.4_Silent_p.P550P|RNF19B_uc010ohp.2_Silent_p.P550P	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	Homo sapiens ring finger protein 19B (RNF19B), transcript variant 1, mRNA.	551						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTGTGTCTTTGGGGAAAATTT	0.463000														94			18		0	0	0.008871	0	0
SCN7A	6332	broad.mit.edu	37	2	167319026	167319026	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:167319026C>T	uc002udu.2	-	8	1086	c.956G>A	c.(955-957)gGa>gAa	p.G319E	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	319					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACACACATATCCTTCAGGACA	0.378000														15			5		0	0	0.004482	0	0
CACNA1F	778	broad.mit.edu	37	X	49081361	49081361	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:49081361G>A	uc004dnb.3	-	13	1834	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F	CACNA1F_uc010nip.3_Missense_Mutation_p.S580F	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	591					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GTTGAAGAAGGAAGACACATA	0.552000														4			3		0	0	0.000602	0	0
CTNND2	1501	broad.mit.edu	37	5	11565118	11565118	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:11565118G>A	uc003jfa.1	-	2	370	c.225C>T	c.(223-225)atC>atT	p.I75I	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.	75					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						GGCTGGCTACGATCTGCCGTT	0.512000														12			6		0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179439256	179439256	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179439256C>T	uc021vsy.1	-	274	64124	c.63899G>A	c.(63898-63900)cGa>cAa	p.R21300Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R14995Q|TTN_uc021vta.1_Missense_Mutation_p.R14928Q|TTN_uc021vtb.1_Missense_Mutation_p.R14803Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22227							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R14803Q(1)|p.R21298Q(1)|p.R14928Q(1)|p.R14995Q(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)			AATACCATTTCGTTCTTTTCT	0.418000														111			36		0	0	0.003755	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883574	228883574	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:228883574C>T	uc002vpq.2	-	6	2043	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E666K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E666K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	666						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGTGCCAGTTCATTCCTGACG	0.443000														64			40		0	0	0.008740	0	0
FBLN1	2192	broad.mit.edu	37	22	45970511	45970511	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:45970511C>G	uc003bgj.1	+	14	1965	c.1818C>G	c.(1816-1818)ttC>ttG	p.F606L		NM_006486	NP_006477	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant D, mRNA.	606					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGCCTACCTTCCGCGAGTTCA	0.652000														18			8		0	0	0.004482	0	0
MST4	51765	broad.mit.edu	37	X	131197485	131197485	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:131197485G>A	uc004ewk.1	+	3	599	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	MST4_uc004ewl.1_Missense_Mutation_p.E23K|MST4_uc011mux.1_Missense_Mutation_p.E122K|MST4_uc010nrj.1_Missense_Mutation_p.E100K|MST4_uc004ewm.1_Missense_Mutation_p.E100K	NM_016542	NP_057626	Q9P289	MST4_HUMAN	Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.	100	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	Golgi membrane|cytosol	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	p.E100*(2)		endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GATAATAATGGAATACCTGGG	0.323000														20			25		0	0	0.007291	0	0
THSD7B	80731	broad.mit.edu	37	2	137990485	137990485	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:137990485C>T	uc002tva.1	+	7	1839	c.1839C>T	c.(1837-1839)ccC>ccT	p.P613P	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.P503P	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)		AGCCATGTCCCCCTAGTCAGG	0.458000														28			16		0	0	0.006122	0	0
ADAD2	161931	broad.mit.edu	37	16	84230520	84230520	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:84230520G>A	uc002fhq.2	+	10	2052	c.1938G>A	c.(1936-1938)ctG>ctA	p.L646L	ADAD2_uc002fhr.2_Silent_p.L564L|AK123582_uc002fhs.1_5'UTR	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	564					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CTCTCCTCCTGGACCAGCAGG	0.667000														12			5		0	0	0.001168	0	0
KDM2A	22992	broad.mit.edu	37	11	66948824	66948824	+	Nonsense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:66948824T>A	uc001ojw.3	+	3	1079	c.215T>A	c.(214-216)tTg>tAg	p.L72*	KDM2A_uc001ojx.3_Non-coding_Transcript	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CGGGGTGGCTTGAGAGATCCT	0.373000														15			3		0	0	0.009096	0	0
CALML5	51806	broad.mit.edu	37	10	5541241	5541241	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:5541241G>A	uc001iic.2	-	0	293	c.161C>T	c.(160-162)tCc>tTc	p.S54F		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	Homo sapiens calmodulin-like 5 (CALML5), mRNA.	54	EF-hand 2.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						GTCAACCTCGGAGATGAGTTT	0.647000														41			11		0	0	0.000978	0	0
LOC642846	642846	broad.mit.edu	37	12	9455282	9455282	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:9455282C>T	uc001qvp.2	+	2		c.264C>T			LOC642846_uc010sgp.1_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA.																		TGGAGAAATTCGTGGCTGTGC	0.572000														10			14		0	0	0.004990	0	0
CNTN3	5067	broad.mit.edu	37	3	74383952	74383952	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:74383952G>A	uc003dpm.1	-	11	1682	c.1602C>T	c.(1600-1602)acC>acT	p.T534T		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	534	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGAAATACCAGGTAAAGATGA	0.418000														31			21		0	0	0.008871	0	0
IQCH	64799	broad.mit.edu	37	15	67687867	67687867	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:67687867C>T	uc002aqo.2	+	12	1968	c.1871C>T	c.(1870-1872)cCt>cTt	p.P624L	IQCH_uc002aqp.2_Intron|IQCH_uc002aqq.2_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	624										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GTGGCAGTTCCTCCTGGAATA	0.423000														29			19		0	0	0.008871	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64483966	64483966	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:64483966C>T	uc003jtp.3	-	21	3601	c.2787G>A	c.(2785-2787)aaG>aaA	p.K929K	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	929	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AAGGTCCGATCTTCCTGATGC	0.532000														99			21		0	0	0.001882	0	0
PIGR	5284	broad.mit.edu	37	1	207112587	207112587	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:207112587C>T	uc001hez.3	-	2	449	c.265G>A	c.(265-267)Gag>Aag	p.E89K	PIGR_uc009xbz.3_Missense_Mutation_p.E89K	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	89	Ig-like V-type 1.					extracellular region|integral to plasma membrane	protein binding	p.P88P(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTGCCGTTCTCCGGGAAGTTG	0.587000														31			13		0	0	0.001368	0	0
GALNTL2	117248	broad.mit.edu	37	3	16216774	16216774	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:16216774C>T	uc003car.4	+	0	591	c.116C>T	c.(115-117)aCc>aTc	p.T39I	GALNTL2_uc003caq.4_Intron	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	39						Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1)	33						CCCCACCACACCCTGCACCAG	0.597000														60			16		0	0	0.003163	0	0
LGI1	9211	broad.mit.edu	37	10	95556849	95556849	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:95556849C>T	uc001kjc.4	+	7	1299	c.963C>T	c.(961-963)atC>atT	p.I321I	LGI1_uc021pwk.1_Intron|LGI1_uc010qnv.2_Silent_p.I273I|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	321					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TCATAAAAATCCAGGATATTG	0.363000														32			5		0	0	0.000602	0	0
SERPINB12	89777	broad.mit.edu	37	18	61232681	61232681	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:61232681G>A	uc010xeo.2	+	5	709	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	SERPINB12_uc010xen.2_Missense_Mutation_p.E217K	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	217					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						ACTACAGAATGAAAACAAGAG	0.483000														62			18		0	0	0.007413	0	0
TRANK1	9881	broad.mit.edu	37	3	36874402	36874402	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:36874402C>T	uc003cgj.3	-	20	6788	c.6540G>A	c.(6538-6540)tcG>tcA	p.S2180S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2180					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGTTCATTTTCGACTGAACTA	0.378000														17			7		0	0	0.001984	0	0
COL28A1	340267	broad.mit.edu	37	7	7529073	7529073	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:7529073C>T	uc003src.1	-	12	1228	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	COL28A1_uc011jxe.1_Missense_Mutation_p.E54K|COL28A1_uc003srd.3_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	371					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGTCTTCCTTCTTGGCCTCTT	0.383000														45			25		0	0	0.004656	0	0
HAPLN1	1404	broad.mit.edu	37	5	82940236	82940236	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:82940236A>G	uc003kim.3	-	2	792	c.721T>C	c.(721-723)Tgg>Cgg	p.W241R	HAPLN1_uc003kin.3_Missense_Mutation_p.W241R	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	241	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		TCTTTATCCCAAAATCCGTAG	0.448000														31			8		0	0	0.004482	0	0
XDH	7498	broad.mit.edu	37	2	31596751	31596751	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:31596751G>A	uc002rnv.1	-	15	1753	c.1674C>T	c.(1672-1674)gtC>gtT	p.V558V		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	558					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GGAAGAGCTGGACATCGGCTG	0.502000														19			5		0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9072763	9072763	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9072763G>A	uc002mkp.3	-	2	14887	c.14683C>T	c.(14683-14685)Cct>Tct	p.P4895S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4897	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						CTCAGTTTAGGAGTCAGGGAG	0.488000														146			67		0	0	0.003610	0	0
OBSCN	84033	broad.mit.edu	37	1	228433155	228433155	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:228433155G>A	uc009xez.1	+	11	3567	c.3523G>A	c.(3523-3525)Gag>Aag	p.E1175K	OBSCN_uc001hsn.3_Missense_Mutation_p.E1175K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1175	Ig-like 12.				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)				AGTGCATAATGAGGTGCAGGC	0.587000														51			8		0	0	0.003080	0	0
CASP6	839	broad.mit.edu	37	4	110617579	110617579	+	Silent	SNP	G	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:110617579G>C	uc003hzn.1	-	3	372	c.294C>G	c.(292-294)ctC>ctG	p.L98L	CASP6_uc003hzo.1_Intron	NM_001226	NP_001217	P55212	CASP6_HUMAN	Homo sapiens caspase 6, apoptosis-related cysteine peptidase (CASP6), transcript variant alpha, mRNA.	98					cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding	p.L98F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		CATGAATTTTGAGCAGTAGTT	0.328000														14			16		0	0	0.004990	0	0
KIAA0586	9786	broad.mit.edu	37	14	58895132	58895132	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:58895132T>C	uc010trr.2	+	1	430	c.186T>C	c.(184-186)aaT>aaC	p.N62N	KIAA0586_uc001xdu.4_Silent_p.N35N|KIAA0586_uc010trs.2_Intron|KIAA0586_uc001xdt.4_Intron|KIAA0586_uc001xdv.4_Silent_p.N50N|TIMM9_uc010aph.3_5'Flank|TIMM9_uc001xds.3_5'Flank|TIMM9_uc010api.3_5'Flank	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	50										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGTCTGCAAATAAACGTCTTC	0.403000														34			27		0	0	0.006320	0	0
CCDC105	126402	broad.mit.edu	37	19	15132205	15132205	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15132205C>T	uc002nae.2	+	3	1014	c.915C>T	c.(913-915)gtC>gtT	p.V305V		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	305					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GGTTGTTGGTCGAGTCCAAGG	0.612000														21			8		0	0	0.003080	0	0
CHAMP1	283489	broad.mit.edu	37	13	115089630	115089630	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:115089630C>T	uc001vuv.3	+	2	645	c.313C>T	c.(313-315)Cct>Tct	p.P105S	CHAMP1_uc010tko.2_Missense_Mutation_p.P105S|CHAMP1_uc010ahb.3_Missense_Mutation_p.P105S|CHAMP1_uc021rmx.1_Missense_Mutation_p.P105S	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.	105	Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										AGAAACAGATCCTGTGAAAAG	0.398000														21			15		0	0	0.004007	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561506	44561506	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:44561506G>A	uc002lcr.1	-	0	483	c.130C>T	c.(130-132)Ctg>Ttg	p.L44L	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	44	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GTCTCCGCCAGGATGTCTGCC	0.572000														15			4		0	0	0.009096	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48594704	48594704	+	Silent	SNP	G	A	A	rs79000284		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:48594704G>A	uc010wmr.2	+	2	546	c.384G>A	c.(382-384)caG>caA	p.Q128Q	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	91					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TCATCACCCAGAAATTTATCA	0.458000														33			58		0	0	0.003610	0	0
CSMD3	114788	broad.mit.edu	37	8	113585731	113585731	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:113585731G>A	uc003ynu.3	-	24	4201	c.4042_splice	c.e24+1	p.S1348_splice	CSMD3_uc003yns.3_Splice_Site_p.S620_splice|CSMD3_uc003ynt.3_Splice_Site_p.S1308_splice|CSMD3_uc011lhx.2_Splice_Site_p.S1244_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1348	CUB 7.					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						AATACTTACTGGTATACACAA	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				54			7		0	0	0.003080	0	0
LEPR	3953	broad.mit.edu	37	1	66088588	66088588	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:66088588G>A	uc001dci.3	+	19	2987	c.2598_splice	c.e19-1	p.R866_splice	LEPR_uc001dcg.3_Splice_Site_p.R866_splice|LEPR_uc001dch.3_Splice_Site_p.R866_splice|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Splice_Site_p.R866_splice|LEPR_uc001dcj.3_Splice_Site_p.R866_splice|LEPR_uc001dck.3_Splice_Site_p.R866_splice	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	866					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATCCTTTGTAGAATGAAAAAG	0.348000														30			6		0	0	0.001168	0	0
GBP2	2634	broad.mit.edu	37	1	89582838	89582838	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:89582838G>A	uc001dmz.1	-	5	976	c.705C>T	c.(703-705)gtC>gtT	p.V235V	GBP2_uc001dmy.1_Non-coding_Transcript	NM_004120	NP_004111	P32456	GBP2_HUMAN	Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.	235					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.V235I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GCCAATCGAAGACGAAGCACT	0.423000														41			15		0	0	0.004007	0	0
WDR31	114987	broad.mit.edu	37	9	116094253	116094253	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:116094253G>A	uc004bhe.3	-	2	355	c.50C>T	c.(49-51)tCg>tTg	p.S17L	WDR31_uc004bhc.3_Missense_Mutation_p.S17L|WDR31_uc004bhd.3_5'UTR|WDR31_uc004bhf.3_Intron	NM_001012361	NP_001012361	Q8NA23	WDR31_HUMAN	Homo sapiens WD repeat domain 31 (WDR31), transcript variant 1, mRNA.	17										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						AAACCTAAACGAAACCTTCTG	0.458000														23			17		0	0	0.001882	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55378036	55378036	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55378036C>T	uc002qhl.4	+	8	1281	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	KIR3DL2_uc002qho.4_Silent_p.F406F|KIR3DL2_uc010esh.3_Silent_p.F389F			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	406					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		ACTGCGTTTTCATACAGAGAA	0.517000														204			73		0	0	0.003610	0	0
MB21D1	115004	broad.mit.edu	37	6	74135297	74135297	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:74135297C>T	uc003pgx.1	-	4	1361	c.1222G>A	c.(1222-1224)Gat>Aat	p.D408N		NM_138441	NP_612450	Q8N884	M21D1_HUMAN	Homo sapiens Mab-21 domain containing 1 (MB21D1), mRNA.	408										central_nervous_system(1)|large_intestine(4)|lung(1)	6						TTTAAACAATCTTTCCTGTTG	0.259000														7			7		0	0	0.001984	0	0
CACNG2	10369	broad.mit.edu	37	22	36960533	36960533	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:36960533C>T	uc003aps.2	-	3	906	c.837G>A	c.(835-837)aaG>aaA	p.K279K		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	279					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGGTGGCGGCCTTCAGGGGGT	0.607000														55			39		0	0	0.009718	0	0
C10orf2	56652	broad.mit.edu	37	10	102753166	102753166	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:102753166C>T	uc001ksf.2	+	4	2629	c.1954C>T	c.(1954-1956)Ccc>Tcc	p.P652S	C10orf2_uc010qpv.1_Missense_Mutation_p.P198S|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.	652					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)		GGCCAAAAAGCCCTCTTCTGG	0.542000														45			14		0	0	0.002450	0	0
EHD1	10938	broad.mit.edu	37	11	64627465	64627465	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:64627465G>A	uc010rnq.1	-	3	935	c.888C>T	c.(886-888)atC>atT	p.I296I	EHD1_uc001obu.1_Silent_p.I282I|EHD1_uc001obv.1_Silent_p.I282I	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	Homo sapiens EH-domain containing 1 (EHD1), mRNA.	282					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GCAGTGACTGGATGTCCTTGA	0.617000														44			9		0	0	0.006214	0	0
FMN2	56776	broad.mit.edu	37	1	240601449	240601449	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:240601449G>A	uc010pye.2	+	16	5236	c.5011G>A	c.(5011-5013)Gaa>Aaa	p.E1671K	FMN2_uc010pyd.2_Missense_Mutation_p.E1667K|FMN2_uc010pyg.2_Missense_Mutation_p.E263K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1667	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TATCTGGCATGAATTCAGCTC	0.388000														53			21		0	0	0.010504	0	0
OR52I2	143502	broad.mit.edu	37	11	4608102	4608102	+	Silent	SNP	G	A	A	rs2115929		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4608102G>A	uc010qyh.2	+	0	82	c.60G>A	c.(58-60)agG>agA	p.R20R		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCATTAACAGGAAAAAAGTCT	0.453000														61			19		0	0	0.008871	0	0
TNFRSF17	608	broad.mit.edu	37	16	12061492	12061492	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:12061492C>T	uc002dbv.3	+	2	561	c.343C>T	c.(343-345)Ctt>Ttt	p.L115F	TNFRSF17_uc010buy.3_3'UTR|TNFRSF17_uc010buz.3_Missense_Mutation_p.L66F	NM_001192	NP_001183	Q02223	TNR17_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 17 (TNFRSF17), mRNA.	115					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						TGAAATTATTCTTCCGAGAGG	0.478000			T	IL2	intestinal T-cell lymphoma									48			36		0	0	0.004289	0	0
SRGAP3	9901	broad.mit.edu	37	3	9036102	9036102	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:9036102G>A	uc003brf.1	-	18	3009	c.2333C>T	c.(2332-2334)tCg>tTg	p.S778L	SRGAP3_uc003brg.1_Missense_Mutation_p.S754L	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	778	SH3.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.S778S(1)	SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCAGTCCTCCGAGGCGCGGTG	0.587000			T	RAF1	pilocytic astrocytoma									46			36		0	0	0.004289	0	0
FBXO15	201456	broad.mit.edu	37	18	71740883	71740883	+	Missense_Mutation	SNP	G	A	A	rs146975565		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:71740883G>A	uc002llf.2	-	9	1426	c.1346C>T	c.(1345-1347)tCg>tTg	p.S449L	FBXO15_uc002lld.2_Non-coding_Transcript|FBXO15_uc002lle.2_Missense_Mutation_p.S373L	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	373										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TGTGGCAGGCGATCTCAGGCA	0.502000														127			23		0	0	0.004656	0	0
KCNK10	54207	broad.mit.edu	37	14	88729615	88729616	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:88729615_88729616GG>AA	uc001xwm.3	-	1	454_455	c.332_333CC>TT	c.(331-333)gcc>gTT	p.A111V	KCNK10_uc001xwn.3_Missense_Mutation_p.A111V|KCNK10_uc001xwo.3_Missense_Mutation_p.A106V	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	106					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.A110V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CCTTCTCCAAGGCGATGGTATT	0.564000														17			7		0	0	0.004672	0	0
BCLAF1	9774	broad.mit.edu	37	6	136590624	136590624	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:136590624C>T	uc003qgx.1	-	8	2423	c.2170G>A	c.(2170-2172)Gaa>Aaa	p.E724K	BCLAF1_uc011edb.1_5'Flank|BCLAF1_uc003qgy.1_Missense_Mutation_p.E722K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.E722K|BCLAF1_uc003qgw.1_Missense_Mutation_p.E551K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	724					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GGAGTTTTTTCCTGCTTTCTT	0.393000														54			5		0	0	0.000602	0	0
GJA10	84694	broad.mit.edu	37	6	90604965	90604965	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:90604965C>T	uc011eaa.2	+	0	778	c.778C>T	c.(778-780)Cat>Tat	p.H260Y		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	260					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CCCTCCATTCCATTTGAAGAA	0.398000														35			15		0	0	0.002450	0	0
TCL1B	9623	broad.mit.edu	37	14	96152912	96152912	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:96152912C>T	uc001yfa.3	+	0	159	c.108C>T	c.(106-108)gtC>gtT	p.V36V	TCL1B_uc021sbi.1_Intron|TCL1B_uc001yew.3_Intron|TCL1B_uc001yex.3_Intron|TCL1B_uc010avj.3_Intron|TCL1B_uc001yez.3_Silent_p.V36V	NM_004918	NP_004909	O95988	TCL1B_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1B (TCL1B), transcript variant 1, mRNA.	36										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TGACTGTGGTCGTGCGGTTCA	0.657000														26			18		0	0	0.006122	0	0
FAM171B	165215	broad.mit.edu	37	2	187627133	187627133	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:187627133C>T	uc002ups.3	+	7	2176	c.2064C>T	c.(2062-2064)tcC>tcT	p.S688S	FAM171B_uc002upr.1_Silent_p.S655S|FAM171B_uc002upt.3_Silent_p.S157S	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	688						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGAGGCACTCCTTTATAGACC	0.517000														46			10		0	0	0.006214	0	0
C9orf24	84688	broad.mit.edu	37	9	34397524	34397524	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:34397524G>A	uc003zuh.1	-	0	326	c.108C>T	c.(106-108)gcC>gcT	p.A36A		NM_032596	NP_115985	Q8NCR6	CI024_HUMAN	Homo sapiens chromosome 9 open reading frame 24 (C9orf24), transcript variant 1, mRNA.	36										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		TGGCTTCCCAGGCACACAGGG	0.557000														77			10		0	0	0.008291	0	0
KIAA1244	57221	broad.mit.edu	37	6	138640839	138640839	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:138640839G>A	uc003qhu.3	+	28	4646	c.4475_splice	c.e28-1	p.G1492_splice		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1492					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TTCTTTTTCAGGACCAGGGTT	0.488000														148			47		0	0	0.003610	0	0
FREM1	158326	broad.mit.edu	37	9	14841568	14841568	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:14841568G>A	uc003zlm.3	-	10	2574	c.1758C>T	c.(1756-1758)ttC>ttT	p.F586F	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	586					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCCTCTGAAGGAAGCCATGGA	0.378000														86			25		0	0	0.002445	0	0
TTBK1	84630	broad.mit.edu	37	6	43251647	43251647	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:43251647C>T	uc003ouq.1	+	13	3448	c.3169C>T	c.(3169-3171)Cct>Tct	p.P1057S	TTBK1_uc021yzs.1_Missense_Mutation_p.P345S	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	1057						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GAGCCGTATCCCTGTCCTGCT	0.687000														23			15		0	0	0.004990	0	0
FAT3	120114	broad.mit.edu	37	11	92085960	92085960	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:92085960G>A	uc001pdj.4	+	0	699	c.682G>A	c.(682-684)Gat>Aat	p.D228N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	228	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAATAGGTATGATCTGGAAAT	0.388000										TCGA Ovarian(4;0.039)				335			109		0	0	0.003610	0	0
OR5M8	219484	broad.mit.edu	37	11	56258736	56258736	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56258736C>T	uc001nix.1	-	0	111	c.111G>A	c.(109-111)acG>acA	p.T37T	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TCCCTGCCACCGTGACCATGT	0.522000														71			27		0	0	0.007291	0	0
SYNE1	23345	broad.mit.edu	37	6	152831412	152831412	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:152831412G>A	uc021zhb.1	-	5	720	c.497C>T	c.(496-498)cCa>cTa	p.P166L	SYNE1_uc003qot.4_Missense_Mutation_p.P173L|SYNE1_uc003qou.4_Missense_Mutation_p.P166L|SYNE1_uc010kjb.1_Missense_Mutation_p.P166L|SYNE1_uc003qpa.1_Missense_Mutation_p.P166L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	166	Actin-binding.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTACTTGGTGGGCTGGGAGT	0.488000										HNSCC(10;0.0054)				60			23		0	0	0.002299	0	0
HCN1	348980	broad.mit.edu	37	5	45396623	45396623	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:45396623C>T	uc003jok.3	-	3	1226	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	401						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTCGAAGAATCCAGAGACTGG	0.463000														15			4		0	0	0.001168	0	0
LRFN2	57497	broad.mit.edu	37	6	40359880	40359880	+	Silent	SNP	G	A	A	rs144850104	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:40359880G>A	uc003oph.1	-	2	2637	c.2172C>T	c.(2170-2172)ttC>ttT	p.F724F		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	724						cell junction|integral to membrane|postsynaptic membrane		p.F724F(2)		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)					CCCCCATGTCGAAGGAGTGGC	0.692000														15			7		0	0	0.003080	0	0
GPR149	344758	broad.mit.edu	37	3	154138961	154138961	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:154138961C>T	uc003faa.3	-	2	1590	c.1490G>A	c.(1489-1491)gGa>gAa	p.G497E		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	497						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AATATCACCTCCTGTTTTGTC	0.403000														109			27		0	0	0.006320	0	0
NLRP7	199713	broad.mit.edu	37	19	55449535	55449535	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55449535G>A	uc002qih.4	-	4	2082	c.2006C>T	c.(2005-2007)tCt>tTt	p.S669F	NLRP7_uc010esk.3_Missense_Mutation_p.S669F|NLRP7_uc002qig.4_Intron|NLRP7_uc002qii.4_Missense_Mutation_p.S669F|NLRP7_uc010esl.3_Missense_Mutation_p.S697F	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	669							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCTGAAGAGAGAGCAGAAATC	0.502000														98			45		0	0	0.003610	0	0
MXRA5	25878	broad.mit.edu	37	X	3238430	3238430	+	Missense_Mutation	SNP	G	A	A	rs34070401		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:3238430G>A	uc004crg.4	-	4	5453	c.5296C>T	c.(5296-5298)Cca>Tca	p.P1766S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1766						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TAGGAACCTGGAATAACTTTT	0.522000														11			18		0	0	0.001882	0	0
OR8K3	219473	broad.mit.edu	37	11	56086445	56086445	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56086445C>T	uc010rjf.2	+	0	663	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ACCTGCTCATCCTTGTAGCCA	0.388000														26			12		0	0	0.001855	0	0
PDIA3	2923	broad.mit.edu	37	15	44062468	44062468	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:44062468C>T	uc001zsu.3	+	10	1435	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	PDIA3_uc010bdp.3_Silent_p.I409I|PDIA3_uc010ued.2_Silent_p.I203I	NM_005313	NP_005304	P30101	PDIA3_HUMAN	Homo sapiens protein disulfide isomerase family A, member 3 (PDIA3), mRNA.	429	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein import into nucleus|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		ACCCAAATATCGTCATAGCCA	0.383000														23			7		0	0	0.003080	0	0
NLRP13	126204	broad.mit.edu	37	19	56423273	56423273	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:56423273C>T	uc010ygg.2	-	4	1935	c.1910G>A	c.(1909-1911)cGa>cAa	p.R637Q		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	637							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GTGAAAAAGTCGTAGAATGTG	0.413000														27			14		0	0	0.002450	0	0
GRM4	2914	broad.mit.edu	37	6	34004268	34004268	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:34004268C>T	uc003oir.4	-	7	1982	c.1619G>A	c.(1618-1620)tGg>tAg	p.W540*	GRM4_uc011dsn.2_Nonsense_Mutation_p.W493*|GRM4_uc010jvh.3_Nonsense_Mutation_p.W540*|GRM4_uc010jvi.3_Nonsense_Mutation_p.W232*|GRM4_uc003oio.3_Nonsense_Mutation_p.W232*|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Nonsense_Mutation_p.W400*|GRM4_uc003oiq.3_Nonsense_Mutation_p.W407*|GRM4_uc011dsm.2_Nonsense_Mutation_p.W371*	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	540					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CTCGCAGTGCCAGCAGCAAGG	0.652000														42			12		0	0	0.000978	0	0
CASS4	57091	broad.mit.edu	37	20	55012393	55012393	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:55012393C>T	uc002xxp.2	+	2	435	c.210C>T	c.(208-210)atC>atT	p.I70I	CASS4_uc002xxq.4_Silent_p.I70I|CASS4_uc010zze.1_Silent_p.I70I|CASS4_uc002xxr.2_Silent_p.I70I|CASS4_uc010gio.2_Silent_p.I70I	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	70	SH3.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GCCTCCAAATCCTCACGGAGG	0.612000														38			6		0	0	0.001984	0	0
KIF13B	23303	broad.mit.edu	37	8	29043831	29043831	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:29043831G>A	uc003xhh.4	-	5	534	c.475C>T	c.(475-477)Cga>Tga	p.R159*	KIF13B_uc003xhj.2_Nonsense_Mutation_p.R56*|KIF13B_uc010lvf.1_Nonsense_Mutation_p.R95*	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	159	Kinesin-motor.				T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AGAAGGTCTCGAACTTTTTCA	0.353000														92			49		0	0	0.003610	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140201466	140201466	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140201466G>A	uc003lhl.2	+	0	106	c.106G>A	c.(106-108)Gag>Aag	p.E36K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.E36K|PCDHAC2_uc003lhj.1_Missense_Mutation_p.E36K	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	50					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGATCCCGGAGGAAGCCAA	0.652000														45			16		0	0	0.004007	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140214295	140214295	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140214295C>T	uc003lhq.2	+	0	327	c.327C>T	c.(325-327)atC>atT	p.I109I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Silent_p.I109I	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	124	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGTGATCGTGGAAAGGC	0.552000														152			35		0	0	0.005524	0	0
FCRL5	83416	broad.mit.edu	37	1	157516808	157516808	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:157516808G>A	uc009wsm.3	-	2	390	c.232C>T	c.(232-234)Cag>Tag	p.Q78*	FCRL5_uc001fqu.3_Nonsense_Mutation_p.Q78*|FCRL5_uc010phv.1_Nonsense_Mutation_p.Q78*|FCRL5_uc010phw.1_Intron|FCRL5_uc001fqv.1_Nonsense_Mutation_p.Q78*|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	78	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity	p.V77F(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCAGATTCCTGAACCTCAAGG	0.488000														41			25		0	0	0.002780	0	0
MGAM	8972	broad.mit.edu	37	7	141765264	141765264	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:141765264C>T	uc003vwy.3	+	37	4668	c.4614C>T	c.(4612-4614)atC>atT	p.I1538I		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1538	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)	AGAAGTCTATCATTGGTGCGT	0.597000														10			6		0	0	0.001168	0	0
ASTN1	460	broad.mit.edu	37	1	177030393	177030393	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:177030393C>T	uc001glc.3	-	1	504	c.292G>A	c.(292-294)Ggg>Agg	p.G98R	ASTN1_uc001glb.1_Missense_Mutation_p.G98R|ASTN1_uc001gld.1_Missense_Mutation_p.G98R|ASTN1_uc009wwx.1_Missense_Mutation_p.G98R	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	98					cell migration|neuron cell-cell adhesion	integral to membrane		p.G98R(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTGTGTTCCCTGAGATCTCT	0.483000														60			35		0	0	0.004289	0	0
PEG3	5178	broad.mit.edu	37	19	57328787	57328787	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:57328787G>A	uc002qnu.2	-	6	1374	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.F312F|PEG3_uc002qnv.2_Silent_p.F341F|PEG3_uc002qnw.2_Silent_p.F217F|PEG3_uc002qnx.2_Silent_p.F215F|PEG3_uc010etr.2_Silent_p.F341F	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	341					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACATTCTGGGGAATCTCTGTG	0.473000														47			7		0	0	0.001984	0	0
PAPLN	89932	broad.mit.edu	37	14	73735314	73735314	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:73735314G>A	uc010ttx.2	+	24	3713	c.3550G>A	c.(3550-3552)Gat>Aat	p.D1184N	PAPLN_uc001xnw.4_Missense_Mutation_p.D1157N|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Intron|PAPLN_uc010tty.2_Missense_Mutation_p.D1168N|PAPLN_uc010arm.3_Missense_Mutation_p.D383N|PAPLN_uc010arn.3_Intron	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	1184	Ig-like C2-type 3.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCAGTCCCCAGATGGCACGCT	0.637000														59			26		0	0	0.006320	0	0
GLYAT	10249	broad.mit.edu	37	11	58477456	58477456	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:58477456G>A	uc001nnb.3	-	5	829	c.674C>T	c.(673-675)aCt>aTt	p.T225I		NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	225					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CATCTCTCCAGTCTGGTCCAT	0.562000														44			12		0	0	0.001368	0	0
KSR2	283455	broad.mit.edu	37	12	117914306	117914306	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:117914306G>A	uc001two.2	-	16	2513	c.2458C>T	c.(2458-2460)Ctc>Ttc	p.L820F		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	849	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGAAGGGGAGCTTATCCTCC	0.612000														5			10		0	0	0.008291	0	0
C20orf132	140699	broad.mit.edu	37	20	35749412	35749412	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:35749412G>A	uc010zvu.2	-	16	2095	c.2004C>T	c.(2002-2004)ctC>ctT	p.L668L	C20orf132_uc002xgk.3_Silent_p.L300L	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	0										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				TTCTGAGGAGGAGAGTCTTTG	0.463000														15			7		0	0	0.003080	0	0
TIGIT	201633	broad.mit.edu	37	3	114014666	114014666	+	Silent	SNP	C	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:114014666C>G	uc003ebg.2	+	1	1091	c.336C>G	c.(334-336)acC>acG	p.T112T		NM_173799	NP_776160	Q495A1	TIGIT_HUMAN	Homo sapiens T cell immunoreceptor with Ig and ITIM domains (TIGIT), mRNA.	112	Ig-like V-type.				negative regulation of T cell activation|negative regulation of interleukin-12 production|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						TCTATCACACCTACCCTGATG	0.562000														40			11		0	0	0.001368	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515473	140515473	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140515473C>T	uc003liq.3	+	0	674	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	153	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACTGTGTTTCCCTTAAAAAT	0.463000														40			11		0	0	0.008291	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307560	140307560	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140307560C>T	uc003lih.2	+	0	1259	c.1083C>T	c.(1081-1083)ctC>ctT	p.L361L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.L361L	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	386	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATTGCTCTCTTTAGTGTAA	0.512000														30			13		0	0	0.001855	0	0
SFTPA2	729238	broad.mit.edu	37	10	81318678	81318678	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:81318678C>T	uc001kal.4	-	3	353	c.256G>A	c.(256-258)Gga>Aga	p.G86R	SFTPA2_uc001kan.4_Missense_Mutation_p.G86R	NM_001098668	NP_001092138	Q8IWL1	SFPA2_HUMAN	Homo sapiens surfactant protein A2 (SFTPA2), mRNA.	86	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CCCTTCTCTCCACGCTCTCCA	0.627000									Pulmonary Fibrosis, Idiopathic					79			37		0	0	0.003271	0	0
TNC	3371	broad.mit.edu	37	9	117819660	117819660	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:117819660G>A	uc004bjj.4	-	14	4763	c.4351C>T	c.(4351-4353)Ccc>Tcc	p.P1451S	TNC_uc010mvf.3_Intron|TNC_uc022bmj.1_Missense_Mutation_p.P1087S	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1451	Fibronectin type-III 10.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AAGCTCTCGGGAGTTATGTCA	0.388000														147			38		0	0	0.002852	0	0
NKX3-1	4824	broad.mit.edu	37	8	23538787	23538787	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:23538787G>A	uc011kzx.2	-	1	700	c.652C>T	c.(652-654)Cct>Tct	p.P218S	NKX3-1_uc003xdv.1_Intron	NM_006167	NP_006158	Q99801	NKX31_HUMAN	Homo sapiens NK3 homeobox 1 (NKX3-1), transcript variant 1, mRNA.	218					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		GGGTAGTAAGGATAGCTGTTA	0.557000														50			23		0	0	0.002299	0	0
NRXN1	9378	broad.mit.edu	37	2	51254720	51254720	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:51254720C>T	uc021vhh.1	-	0	1613	c.692G>A	c.(691-693)gGa>gAa	p.G231E	NRXN1_uc021vhg.1_Missense_Mutation_p.G231E|NRXN1_uc021vhi.1_Missense_Mutation_p.G231E|NRXN1_uc021vhj.1_Missense_Mutation_p.G231E|NRXN1_uc021vhk.1_Missense_Mutation_p.G231E	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	231	EGF-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCACACACCTCCGTTGAGGCA	0.716000														6			16		0	0	0.006122	0	0
KCNMA1	3778	broad.mit.edu	37	10	78799304	78799304	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:78799304G>A	uc001jxn.3	-	14	2018	c.1841C>T	c.(1840-1842)tCc>tTc	p.S614F	KCNMA1_uc021ptu.1_Missense_Mutation_p.S560F|KCNMA1_uc001jxj.2_Missense_Mutation_p.S614F|KCNMA1_uc001jxk.1_Missense_Mutation_p.S229F|KCNMA1_uc009xrt.1_Missense_Mutation_p.S434F|KCNMA1_uc001jxl.1_Missense_Mutation_p.S268F|KCNMA1_uc001jxo.3_Missense_Mutation_p.S614F|KCNMA1_uc001jxm.3_Missense_Mutation_p.S614F|KCNMA1_uc001jxq.3_Missense_Mutation_p.S614F	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	614	Segment S8.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	AGTAGGGAAGGACAGACCCAC	0.458000														19			3		0	0	0.004672	0	0
OC90	729330	broad.mit.edu	37	8	133048626	133048626	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:133048626G>A	uc003ytg.2	-	7	671	c.671C>T	c.(670-672)tCc>tTc	p.S224F	OC90_uc011lix.1_Intron	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	240					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			ACTTTTCTTGGAGAGAGTGAT	0.448000														45			19		0	0	0.001882	0	0
IL20RA	53832	broad.mit.edu	37	6	137322987	137322987	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:137322987A>G	uc003qhj.3	-	6	1803	c.1370T>C	c.(1369-1371)tTa>tCa	p.L457S	IL20RA_uc011edl.2_Missense_Mutation_p.L408S|IL20RA_uc003qhk.3_Missense_Mutation_p.L346S|IL20RA_uc003qhi.3_Missense_Mutation_p.L189S	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	457						integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CAGGGGGTCTAAGTCTTGGAG	0.597000														67			21		0	0	0.002780	0	0
CTNNA3	29119	broad.mit.edu	37	10	68526108	68526108	+	Missense_Mutation	SNP	G	A	A	rs115276158	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:68526108G>A	uc009xpn.1	-	8	1318	c.1195C>T	c.(1195-1197)Ctc>Ttc	p.L399F	CTNNA3_uc001jmw.2_Missense_Mutation_p.L399F|CTNNA3_uc001jmx.4_Missense_Mutation_p.L399F	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	399					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GCTTCAATGAGAACCAAAAGA	0.403000														45			10		0	0	0.006214	0	0
MYO5B	4645	broad.mit.edu	37	18	47488650	47488650	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:47488650C>T	uc002leb.2	-	11	1819	c.1531G>A	c.(1531-1533)Gat>Aat	p.D511N	MYO5B_uc021ukb.1_Missense_Mutation_p.D510N	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	511	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CATTCTTCATCCAACAGGTCC	0.388000														36			31		0	0	0.002836	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102495923	102495924	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:102495923_102495924CC>TT	uc001yks.2	+	48	9680_9681	c.9516_9517CC>TT	c.(9514-9519)acccct>acTTct	p.P3173S		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	3173					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						TGGCCATCACCCCTCGCCACTA	0.530000														23			15		0	0	0.004672	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798363	185798363	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:185798363C>T	uc002uph.3	+	2	883	c.289C>T	c.(289-291)Cga>Tga	p.R97*		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	97						intracellular	zinc ion binding	p.R97*(2)|p.R97Q(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGAATTTGCTCGAAATGTAGC	0.368000														16			5		0	0	0.000602	0	0
WASF3	10810	broad.mit.edu	37	13	27256988	27256988	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:27256988C>T	uc001uqv.3	+	8	1453	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S	WASF3_uc001uqw.3_Missense_Mutation_p.P407S	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	410	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCCTCCTGGTCCCGGGTCTTC	0.687000														45			11		0	0	0.008291	0	0
BTNL8	79908	broad.mit.edu	37	5	180338455	180338455	+	Missense_Mutation	SNP	G	A	A	rs144589226		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:180338455G>A	uc003mmp.3	+	2	748	c.514G>A	c.(514-516)Gga>Aga	p.G172R	BTNL8_uc003mmq.3_Missense_Mutation_p.G172R|BTNL8_uc010jll.3_Missense_Mutation_p.G172R|BTNL8_uc011dhg.2_Missense_Mutation_p.G47R|BTNL8_uc010jlm.3_Missense_Mutation_p.G56R|BTNL8_uc011dhh.2_5'UTR	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	172	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGTCCACAAGGACAGGATTT	0.532000														90			27		0	0	0.007291	0	0
CACHD1	57685	broad.mit.edu	37	1	65130323	65130323	+	Missense_Mutation	SNP	C	T	T	rs145700540		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:65130323C>T	uc001dbo.1	+	14	2189	c.2084C>T	c.(2083-2085)tCc>tTc	p.S695F	CACHD1_uc001dbp.1_Missense_Mutation_p.S450F|CACHD1_uc001dbq.1_Missense_Mutation_p.S450F|CACHD1_uc010opa.1_5'Flank	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	746					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TATCCTGGTTCCCTCATGGAC	0.458000														118			16		0	0	0.006122	0	0
PARP10	84875	broad.mit.edu	37	8	145058554	145058554	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:145058554G>A	uc003zal.4	-	5	1612	c.1504C>T	c.(1504-1506)Cgg>Tgg	p.R502W	PARP10_uc003zak.4_Missense_Mutation_p.R208W|PARP10_uc011lku.2_Missense_Mutation_p.R514W|PARP10_uc011lkv.2_Non-coding_Transcript|PARP10_uc003zam.2_Missense_Mutation_p.R502W	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 10 (PARP10), mRNA.	502						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCAGGCTCCGCAGAAACTCC	0.617000														15			9		0	0	0.006214	0	0
C20orf26	26074	broad.mit.edu	37	20	20144724	20144724	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:20144724G>A	uc002wru.3	+	10	1171	c.1057G>A	c.(1057-1059)Gga>Aga	p.G353R	C20orf26_uc010gcw.2_Missense_Mutation_p.G307R|C20orf26_uc010zse.2_Missense_Mutation_p.G353R|C20orf26_uc010zsf.1_Missense_Mutation_p.G353R	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	353										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CATCTCCACTGGATATGCACA	0.532000														47			21		0	0	0.004656	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698178	111698178	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:111698178C>T	uc022cct.1	+	0	222	c.222C>T	c.(220-222)ttC>ttT	p.F74F	ZCCHC16_uc004epo.1_Silent_p.F74F	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	74							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCTCAGAGTTCCTCACTCAGG	0.483000														9			23		0	0	0.002299	0	0
MUC17	140453	broad.mit.edu	37	7	100686280	100686280	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100686280C>T	uc003uxp.1	+	2	11636	c.11583C>T	c.(11581-11583)gtC>gtT	p.V3861V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3861						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)					CTGCTGAAGTCACTACCATAC	0.488000														63			12		0	0	0.001368	0	0
PHF3	23469	broad.mit.edu	37	6	64422871	64422871	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:64422871C>T	uc003pep.1	+	14	5412	c.5387C>T	c.(5386-5388)tCa>tTa	p.S1796L	PHF3_uc003pen.2_Missense_Mutation_p.S1708L|PHF3_uc011dxs.1_Missense_Mutation_p.S1065L	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1796					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ACAAACTTTTCACCCATGAGG	0.458000														49			29		0	0	0.002445	0	0
ATMIN	23300	broad.mit.edu	37	16	81075941	81075941	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:81075941C>T	uc002ffz.1	+	2	536	c.518C>T	c.(517-519)tCg>tTg	p.S173L	ATMIN_uc002fga.2_Missense_Mutation_p.S15L|ATMIN_uc010vnn.1_Intron|ATMIN_uc002fgb.1_Missense_Mutation_p.S15L	NM_015251	NP_056066	O43313	ATMIN_HUMAN	Homo sapiens ATM interactor (ATMIN), mRNA.	173					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						TGCAGCAATTCGTACGGTACA	0.493000														44			39		0	0	0.005524	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153276396	153276396	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:153276396G>A	uc001fbn.1	-	3	519	c.466C>T	c.(466-468)Cag>Tag	p.Q156*		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	156					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGAAGTGGCTGAATATACCTG	0.557000														71			23		0	0	0.002780	0	0
SYNE2	23224	broad.mit.edu	37	14	64681136	64681136	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:64681136C>T	uc001xgl.3	+	105	19511	c.19281C>T	c.(19279-19281)ggC>ggT	p.G6427G	SYNE2_uc001xgm.3_Silent_p.G6427G|SYNE2_uc010apy.3_Silent_p.G2812G|SYNE2_uc001xgn.3_Silent_p.G1389G|SYNE2_uc021rui.1_Silent_p.G1414G|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Silent_p.G397G|SYNE2_uc001xgq.3_Silent_p.G792G|SYNE2_uc001xgr.3_Silent_p.G210G|SYNE2_uc010tsi.2_Silent_p.G61G|SYNE2_uc001xgs.3_Silent_p.G61G|SYNE2_uc001xgt.3_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6427					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACGTGGGGGGCTCCTCCTCTC	0.637000														24			9		0	0	0.006214	0	0
CALML3	810	broad.mit.edu	37	10	5567256	5567256	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:5567256C>T	uc001iie.1	+	0	333	c.208C>T	c.(208-210)Ctg>Ttg	p.L70L	AK128534_uc001iid.1_5'Flank	NM_005185	NP_005176	P27482	CALL3_HUMAN	Homo sapiens calmodulin-like 3 (CALML3), mRNA.	70	EF-hand 2.						calcium ion binding			endometrium(3)|lung(2)	5						CCCCGAGTTCCTGGGCATGAT	0.647000														9			8		0	0	0.004482	0	0
DPYD	1806	broad.mit.edu	37	1	98348842	98348842	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:98348842C>T	uc001drv.3	-	1	265	c.128G>A	c.(127-129)aGa>aAa	p.R43K	DPYD_uc010oub.1_Intron|DPYD_uc001drw.3_Missense_Mutation_p.R43K	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	43					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ATCAGGATTTCTTTTCCAATG	0.383000														32			11		0	0	0.002450	0	0
C4BPA	722	broad.mit.edu	37	1	207300216	207300216	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:207300216C>T	uc001hfo.3	+	6	1059	c.865C>T	c.(865-867)Cct>Tct	p.P289S		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	289	Sushi 4.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CAAATGGAATCCTTCTCCTCC	0.403000														42			13		0	0	0.004007	0	0
AFF2	2334	broad.mit.edu	37	X	148072755	148072755	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:148072755C>T	uc004fcp.3	+	20	4308	c.3829C>T	c.(3829-3831)Ctg>Ttg	p.L1277L	AFF2_uc004fcq.3_Silent_p.L1267L|AFF2_uc004fcr.3_Silent_p.L1238L|AFF2_uc011mxb.2_Silent_p.L1242L|AFF2_uc004fcs.3_Silent_p.L1242L|AFF2_uc011mxc.2_Silent_p.L918L	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1277					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTTTGGTGATCTGGACACGCT	0.488000														15			32		0	0	0.002096	0	0
LCK	3932	broad.mit.edu	37	1	32739964	32739964	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:32739964G>A	uc001bux.3	+	1	172	c.34G>A	c.(34-36)Gac>Aac	p.D12N	LCK_uc001buy.3_Missense_Mutation_p.D12N|LCK_uc001buz.3_Missense_Mutation_p.D12N|LCK_uc010ohc.1_Missense_Mutation_p.D56N|LCK_uc001bva.3_Missense_Mutation_p.D12N	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	12	Interactions with CD4 and CD8 (By similarity).				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CCCGGAAGATGACTGGATGGA	0.577000			T	TRB@	T-ALL									54			34		0	0	0.004878	0	0
MUC16	94025	broad.mit.edu	37	19	9013882	9013882	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9013882C>T	uc002mkp.3	-	32	38712	c.38508G>A	c.(38506-38508)ggG>ggA	p.G12836G	MUC16_uc021uog.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12838				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCCTGAGGTCCCAAGGTCCA	0.483000														22			10		0	0	0.001368	0	0
LOC440354	440354	broad.mit.edu	37	16	29576683	29576683	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:29576683C>T	uc010vdt.1	-	2	811	c.389G>A	c.(388-390)aGg>aAg	p.R130K	LOC440354_uc002dsp.3_Non-coding_Transcript|BOLA2_uc010bzb.1_Intron|LOC440354_uc010bza.1_Non-coding_Transcript|LOC440354_uc002dtj.2_Intron|LOC440354_uc010vds.1_Non-coding_Transcript					Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) pseudogene (LOC440354), non-coding RNA.																		CTGTGATTTCCTCATGTCTTT	0.493000														9			3		0	0	0.004672	0	0
SIRPA	140885	broad.mit.edu	37	20	1902297	1902297	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:1902297C>T	uc002wfq.3	+	3	1053	c.693C>T	c.(691-693)gcC>gcT	p.A231A	SIRPA_uc010zps.2_Silent_p.A211A|SIRPA_uc002wfr.3_Silent_p.A231A|SIRPA_uc002wfs.3_Silent_p.A231A|SIRPA_uc002wft.3_Silent_p.A231A	NM_001040022	NP_542970	P78324	SHPS1_HUMAN	Homo sapiens signal-regulatory protein alpha (SIRPA), transcript variant 1, mRNA.	231	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	p.V230M(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GCGAGGTGGCCCACGTCACCT	0.617000														48			4		0	0	0.003080	0	0
CTCFL	140690	broad.mit.edu	37	20	56098996	56098996	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:56098996G>A	uc010giw.1	-	1	377	c.266C>T	c.(265-267)tCt>tTt	p.S89F	CTCFL_uc010gix.1_Missense_Mutation_p.S89F|CTCFL_uc002xym.2_Missense_Mutation_p.S89F|CTCFL_uc010gjb.1_Missense_Mutation_p.S89F|CTCFL_uc010gja.1_Missense_Mutation_p.S89F|CTCFL_uc010gjc.1_Missense_Mutation_p.S89F|CTCFL_uc010gjd.1_Missense_Mutation_p.S89F|CTCFL_uc010gje.3_Missense_Mutation_p.S89F|CTCFL_uc010gjg.3_Intron|CTCFL_uc010gjf.3_Intron|CTCFL_uc010gjh.2_Missense_Mutation_p.S89F|CTCFL_uc010gji.2_Intron|CTCFL_uc010gjj.2_Missense_Mutation_p.S89F|CTCFL_uc021wfe.1_Missense_Mutation_p.S89F|CTCFL_uc021wff.1_Intron|CTCFL_uc021wfg.1_Intron|CTCFL_uc010gjk.1_Missense_Mutation_p.S89F|CTCFL_uc010gjl.1_Missense_Mutation_p.S89F	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	89					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CACAGCTTCAGAAGTGAAGTG	0.587000														41			16		0	0	0.004007	0	0
C11orf53	341032	broad.mit.edu	37	11	111156412	111156412	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:111156412T>C	uc001plc.3	+	3	491	c.344T>C	c.(343-345)cTc>cCc	p.L115P		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.	115										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)		CCTGACGGTCTCAGCCAGCCT	0.587000														51			16		0	0	0.004990	0	0
OR8H1	219469	broad.mit.edu	37	11	56058264	56058264	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56058264G>A	uc010rje.2	-	0	275	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GCCCATGAAGGAAATATAGTT	0.398000														123			56		0	0	0.003610	0	0
ABCC6P1	653190	broad.mit.edu	37	16	18602603	18602603	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:18602603C>T	uc002dfg.3	+	7	1001	c.801C>T	c.(799-801)ttC>ttT	p.F267F	ABCC6P1_uc010vam.2_Silent_p.F210F					Homo sapiens ATP-binding cassette, sub-family C, member 6 pseudogene 1 (ABCC6P1), non-coding RNA.																		GTGATGTCTTCAGGTTCACTG	0.592000														57			27		0	0	0.004289	0	0
SLC25A51P1	442229	broad.mit.edu	37	6	66499149	66499149	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:66499149C>T	uc011dxw.2	+	0		c.1378C>T								Homo sapiens mitochondrial carrier triple repeat 3 pseudogene (MCART3P), non-coding RNA.																		TCCCTTATCTCTTAGAGCATA	0.363000														6			4		0	0	0.009096	0	0
OR4K1	79544	broad.mit.edu	37	14	20404079	20404079	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20404079T>G	uc001vwj.2	+	0	313	c.254T>G	c.(253-255)tTt>tGt	p.F85C		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTTGTAGACTTTTTTATTGAG	0.418000														164			15		0	0	0.006122	0	0
GRM3	2913	broad.mit.edu	37	7	86468644	86468644	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:86468644C>T	uc003uid.3	+	3	2913	c.1814C>T	c.(1813-1815)cCc>cTc	p.P605L	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.P477L|GRM3_uc010leh.3_Missense_Mutation_p.P197L	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	605					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AACAACACACCCTTGGTCAAA	0.483000														55			20		0	0	0.007413	0	0
LRRC55	219527	broad.mit.edu	37	11	56949566	56949566	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56949566C>T	uc001njl.2	+	0	346	c.199C>T	c.(199-201)Ctc>Ttc	p.L67F		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	37	LRRNT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GATCTCCCTCCTCTTGGCAGC	0.632000														22			10		0	0	0.000978	0	0
KCNT2	343450	broad.mit.edu	37	1	196197413	196197413	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196197413G>A	uc001gtd.1	-	27	3409	c.3349C>T	c.(3349-3351)Cga>Tga	p.R1117*	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Nonsense_Mutation_p.R1050*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.R1093*|KCNT2_uc001gtg.1_Non-coding_Transcript	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	1117						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.R1117Q(3)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTGTTTCTTCGACTGGGCTCA	0.368000														35			8		0	0	0.008291	0	0
TSPAN2	10100	broad.mit.edu	37	1	115593133	115593133	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:115593133C>T	uc001eft.3	-	7	712	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	TSPAN2_uc021osc.1_Missense_Mutation_p.R187Q	NM_005725	NP_005716	O60636	TSN2_HUMAN	Homo sapiens tetraspanin 2 (TSPAN2), mRNA.	215						integral to membrane		p.I214M(1)		central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TCGTGAGTTTCGTATCGCACA	0.398000														40			6		0	0	0.001984	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320738	79320738	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:79320738C>T	uc010mpk.3	-	7	6576	c.6452G>A	c.(6451-6453)cGg>cAg	p.R2151Q	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.R1973Q	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2151					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.R2151Q(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GACAAACTCCCGTCCAGGCTC	0.512000														68			37		0	0	0.004289	0	0
GTPBP1	9567	broad.mit.edu	37	22	39120355	39120355	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:39120355C>T	uc003awg.3	+	5	1166	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S		NM_004286	NP_004277	O00178	GTPB1_HUMAN	Homo sapiens GTP binding protein 1 (GTPBP1), mRNA.	338					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					CCGGAAGATCCCCGTGCTGGT	0.537000														47			9		0	0	0.008291	0	0
NMNAT2	23057	broad.mit.edu	37	1	183262847	183262847	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:183262847C>T	uc001gqc.2	-	1	399	c.167G>A	c.(166-168)gGa>gAa	p.G56E	NMNAT2_uc001gqb.2_Missense_Mutation_p.G51E|NMNAT2_uc001gqd.3_5'Flank	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 2 (NMNAT2), transcript variant 1, mRNA.	56					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	p.G56E(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						CACCTGTTTTCCATAGGAGTC	0.522000														59			15		0	0	0.004007	0	0
RASL12	51285	broad.mit.edu	37	15	65347594	65347594	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:65347594C>T	uc002aoi.1	-	4	659	c.444G>A	c.(442-444)gaG>gaA	p.E148E	RASL12_uc002aoj.1_Silent_p.E129E|RASL12_uc010uir.1_Silent_p.E137E	NM_016563	NP_057647	Q9NYN1	RASLC_HUMAN	Homo sapiens RAS-like, family 12 (RASL12), mRNA.	148					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						AAGCCACACCCTCTGCCTTGG	0.602000														6			3		0	0	0.004672	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74904306	74904306	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:74904306C>T	uc001owb.3	+	8	1514	c.1119C>T	c.(1117-1119)ttC>ttT	p.F373F	SLCO2B1_uc010rrq.2_Silent_p.F118F|SLCO2B1_uc010rrr.2_Silent_p.F229F|SLCO2B1_uc010rrs.2_Silent_p.F257F|SLCO2B1_uc001owc.3_Silent_p.F146F|SLCO2B1_uc001owd.3_Silent_p.F351F	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	373					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	ACCCCATCTTCCTGCTGGTGG	0.627000														44			32		0	0	0.009535	0	0
KLK4	9622	broad.mit.edu	37	19	51411882	51411882	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:51411882G>A	uc002pua.1	-	2	428	c.428C>T	c.(427-429)aCc>aTc	p.T143I	KLK4_uc002pty.1_Missense_Mutation_p.T94I|KLK4_uc002ptz.1_Non-coding_Transcript|KLK4_uc002pub.1_Missense_Mutation_p.T48I|KLK4_uc002puc.1_Non-coding_Transcript|KLK4_uc010eoi.1_Missense_Mutation_p.T48I|KLK4_uc002pud.1_Missense_Mutation_p.T48I	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	Homo sapiens kallikrein-related peptidase 4 (KLK4), mRNA.	143	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GTTCCCCGCGGTAGGGCACTG	0.597000														36			11		0	0	0.000978	0	0
LPHN2	23266	broad.mit.edu	37	1	82436123	82436123	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:82436123G>A	uc001dit.4	+	14	2989	c.2808G>A	c.(2806-2808)agG>agA	p.R936R	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.R936R|LPHN2_uc001div.3_Silent_p.R936R|LPHN2_uc009wcd.3_Silent_p.R936R|LPHN2_uc001diw.3_Silent_p.R520R|LPHN2_uc009wce.1_Silent_p.R22R	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	949					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATATTCAAGGAAAAAATATT	0.378000														61			27		0	0	0.004656	0	0
HIBADH	11112	broad.mit.edu	37	7	27570934	27570934	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:27570934G>A	uc003szf.3	-	6	942	c.729C>T	c.(727-729)atC>atT	p.I243I	HIBADH_uc003szg.3_Silent_p.I194I	NM_152740	NP_689953	P31937	3HIDH_HUMAN	Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA.	243					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	TCATATTTAGGATTTTAGCCA	0.433000														378			160		0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13882846	13882846	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:13882846C>T	uc003jfd.2	-	20	3295	c.3253G>A	c.(3253-3255)Gaa>Aaa	p.E1085K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1085	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)					CCTTGAAGTTCATTTTCTCCC	0.303000									Kartagener syndrome					29			9		0	0	0.006214	0	0
LIMK1	3984	broad.mit.edu	37	7	73513401	73513401	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:73513401C>T	uc003uaa.2	+	4	655	c.441C>T	c.(439-441)atC>atT	p.I147I	LIMK1_uc010lbl.2_Non-coding_Transcript|LIMK1_uc003uab.3_Silent_p.I113I|LIMK1_uc003uac.1_5'UTR	NM_002314	NP_002305	P53667	LIMK1_HUMAN	Homo sapiens LIM domain kinase 1 (LIMK1), transcript variant 1, mRNA.	147					Rho protein signal transduction|actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	p.V146I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				CCCCCGTCATCGAGCAGATCC	0.597000														109			31		0	0	0.002096	0	0
LEPREL1	55214	broad.mit.edu	37	3	189691731	189691731	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:189691731C>T	uc011bsk.2	-	9	1903	c.1515G>A	c.(1513-1515)aaG>aaA	p.K505K	LEPREL1_uc003fsg.3_Silent_p.K324K	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	505					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CACCTTCAAACTTTTCATTGG	0.403000														116			64		0	0	0.003610	0	0
NOL4	8715	broad.mit.edu	37	18	31537330	31537330	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:31537330A>C	uc010dmi.3	-	7	1686	c.1388T>G	c.(1387-1389)cTc>cGc	p.L463R	NOL4_uc010xbs.2_Missense_Mutation_p.L178R|NOL4_uc002kxr.4_Intron|NOL4_uc010xbt.2_Missense_Mutation_p.L389R|NOL4_uc010dmh.3_Intron|NOL4_uc010xbu.2_Intron|NOL4_uc002kxt.4_Intron|NOL4_uc010xbv.1_Intron	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	463						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GCAGGACTTGAGGTAAGTACG	0.438000														55			16		0	0	0.004990	0	0
TCRBV20S1	0	broad.mit.edu	37	7	142032367	142032367	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142032367G>A	uc011krs.1	+	1	220	c.187G>A	c.(187-189)Gag>Aag	p.E63K	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron					Homo sapiens mRNA for T cell receptor V beta6-D-J, partial cds.																		GCAGGGCCTGGAGTTTCCAAT	0.507000														9			8		0	0	0.003080	0	0
LRRC31	79782	broad.mit.edu	37	3	169557796	169557796	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:169557796G>A	uc003fgc.1	-	8	1698	c.1633C>T	c.(1633-1635)Cac>Tac	p.H545Y	LRRC31_uc010hwp.1_Missense_Mutation_p.H489Y	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	545										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TGGTCAAAGTGAATGCTTCTT	0.403000														32			13		0	0	0.002450	0	0
CBLN2	147381	broad.mit.edu	37	18	70205891	70205891	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:70205891G>A	uc002lku.2	-	2	709	c.474C>T	c.(472-474)atC>atT	p.I158I	CBLN2_uc002lkv.2_Silent_p.I158I	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	Homo sapiens cerebellin 2 precursor (CBLN2), mRNA.	158	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				TACCCACCTGGATGGTTTGTC	0.458000														66			18		0	0	0.010504	0	0
ASTL	431705	broad.mit.edu	37	2	96789975	96789975	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:96789975G>A	uc010yui.2	-	8	910	c.910C>T	c.(910-912)Ccg>Tcg	p.P304S		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	304					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						AGGGAGGCCGGAGCGGGGCTC	0.637000														14			8		0	0	0.004482	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458969	45458969	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:45458969C>T	uc001rol.3	-	0		c.226G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		ATCAAAAGATCCTTGTATTTC	0.438000														6			7		0	0	0.004482	0	0
DNAH1	25981	broad.mit.edu	37	3	52383297	52383297	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:52383297C>T	uc011bef.2	+	13	2648	c.2387C>T	c.(2386-2388)tCg>tTg	p.S796L	DNAH1_uc003ddt.1_Missense_Mutation_p.S796L	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	796	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGGACAGCTCGCTGCCCAGC	0.597000														20			12		0	0	0.001368	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140248800	140248801	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140248800_140248801GA>AC	uc003lia.2	+	0	970_971	c.112_113GA>AC	c.(112-114)gag>ACg	p.E38T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.E38T	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	51					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCTCGGAGGAGGCCAAACAC	0.649000														58			7		0	0	0.004672	0	0
PRDX4	10549	broad.mit.edu	37	X	23697366	23697366	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:23697366C>A	uc004dam.3	+	3	604	c.561C>A	c.(559-561)gaC>gaA	p.D187E		NM_006406	NP_006397	Q13162	PRDX4_HUMAN	Homo sapiens peroxiredoxin 4 (PRDX4), mRNA.	187	Thioredoxin.				I-kappaB phosphorylation|cell redox homeostasis		thioredoxin peroxidase activity			lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						TCTCAAAGGACTATGGTGTAT	0.408000														27			34		8.16904e-11	9.00567e-11	0.007835	1	0
TCRDV2	0	broad.mit.edu	37	14	22933266	22933266	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:22933266G>A	uc010tms.2	+	3	587	c.381G>A	c.(379-381)aaG>aaA	p.K127K	TCRA_uc001wbw.2_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron|AK093552_uc001wds.1_Intron|TCRA_uc001wdv.4_Intron|TCRDV2_uc001wdx.4_Silent_p.K127K|TCRDV2_uc010aju.1_3'UTR|TCRDV2_uc001wea.4_Silent_p.K152K					RecName: Full=T-cell receptor delta chain C region;																		TGTTTGCAAAGACTGTTGCCG	0.448000														37			16		0	0	0.007413	0	0
FAM171B	165215	broad.mit.edu	37	2	187626958	187626958	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:187626958C>T	uc002ups.3	+	7	2001	c.1889C>T	c.(1888-1890)tCc>tTc	p.S630F	FAM171B_uc002upr.1_Missense_Mutation_p.S597F|FAM171B_uc002upt.3_Missense_Mutation_p.S99F	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	630						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TTACTGGAATCCGTCTCTGTT	0.488000														62			18		0	0	0.008871	0	0
CACNG3	10368	broad.mit.edu	37	16	24268270	24268270	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:24268270G>A	uc002dmf.3	+	0	1397	c.195G>A	c.(193-195)agG>agA	p.R65R		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	65					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GGCTGTGGAGGACCTGCTGCC	0.428000														27			9		0	0	0.008291	0	0
FER1L6	654463	broad.mit.edu	37	8	125082726	125082726	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:125082726G>A	uc003yqw.3	+	29	4059	c.3853G>A	c.(3853-3855)Gag>Aag	p.E1285K	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1285						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CGGTGATCTCGAGAGTGAATT	0.418000														99			16		0	0	0.007413	0	0
abParts	0	broad.mit.edu	37	2	90139140	90139140	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:90139140C>T	uc010yts.2	+	29		c.3323C>T								Parts of antibodies, mostly variable regions.																		TCCTGGGGCTCCTGCTGCTCT	0.512000														134			26		0	0	0.002445	0	0
CDYL2	124359	broad.mit.edu	37	16	80718592	80718592	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:80718592C>T	uc002ffs.3	-	1	564	c.459G>A	c.(457-459)caG>caA	p.Q153Q		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	153						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						CCATCCCGTTCTGAGACTTTT	0.522000														57			11		0	0	0.001368	0	0
FBLN5	10516	broad.mit.edu	37	14	92403309	92403309	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:92403309C>T	uc010aue.3	-	4	957	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	FBLN5_uc010aud.3_Missense_Mutation_p.E126K|FBLN5_uc001xzx.4_Missense_Mutation_p.E121K	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	121	EGF-like 2; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGGTTGCTTTCATCCATCTGG	0.537000														65			41		0	0	0.008740	0	0
KCNA7	3743	broad.mit.edu	37	19	49573376	49573376	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:49573376C>T	uc002pmg.3	-	1	1671	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 7 (KCNA7), mRNA.	439						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		GGTGGTAGCTCAGGTACCTCC	0.622000														28			24		0	0	0.003330	0	0
MYO16	23026	broad.mit.edu	37	13	109707925	109707925	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:109707925T>C	uc010agk.2	+	26	3939	c.3317T>C	c.(3316-3318)tTc>tCc	p.F1106S	MYO16_uc001vqt.1_Missense_Mutation_p.F1084S|MYO16_uc001vqu.1_Missense_Mutation_p.F884S|MYO16_uc010tjh.1_Missense_Mutation_p.F596S	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1084	Myosin head-like 2.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CGCCTTTCCTTCTCGGATTTC	0.433000														83			13		0	0	0.004990	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24922358	24922358	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:24922358G>A	uc001isb.2	-	5	900	c.413C>T	c.(412-414)tCc>tTc	p.S138F	ARHGAP21_uc009xkl.1_Missense_Mutation_p.S138F|ARHGAP21_uc010qdc.1_5'UTR|ARHGAP21_uc001isc.1_Missense_Mutation_p.S138F|ARHGAP21_uc001isd.1_Missense_Mutation_p.S138F	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	137	PDZ.				signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AATTACTTGGGAATAGGTTTT	0.318000														24			12		0	0	0.002450	0	0
TM6SF1	53346	broad.mit.edu	37	15	83784641	83784641	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:83784641G>A	uc002bjp.3	+	2	350	c.241G>A	c.(241-243)Gga>Aga	p.G81R	TM6SF1_uc010bmq.3_Missense_Mutation_p.G81R|TM6SF1_uc002bjq.3_Missense_Mutation_p.G81R|TM6SF1_uc010bmr.3_Non-coding_Transcript	NM_023003	NP_075379	Q9BZW5	TM6S1_HUMAN	Homo sapiens transmembrane 6 superfamily member 1 (TM6SF1), transcript variant 1, mRNA.	81						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CCTCATCATAGGACTGGAGCA	0.418000														39			5		0	0	0.000602	0	0
MAPK13	5603	broad.mit.edu	37	6	36106768	36106768	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:36106768G>A	uc003ols.3	+	10	1052	c.954G>A	c.(952-954)acG>acA	p.T318T	MAPK13_uc003olt.3_Non-coding_Transcript	NM_002754	NP_002745	O15264	MK13_HUMAN	Homo sapiens mitogen-activated protein kinase 13 (MAPK13), mRNA.	318					Ras protein signal transduction|cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						AGGAAGAGACGGAGGCCCAGC	0.602000														47			10		0	0	0.001368	0	0
FBXO27	126433	broad.mit.edu	37	19	39517545	39517545	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:39517545G>A	uc002okh.3	-	4	755	c.673C>T	c.(673-675)Ccc>Tcc	p.P225S		NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	Homo sapiens F-box protein 27 (FBXO27), mRNA.	225	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TGCGGGATGGGATCAGGCACA	0.537000														82			52		0	0	0.003610	0	0
ERCC6L	54821	broad.mit.edu	37	X	71426010	71426010	+	Silent	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:71426010A>T	uc004eaq.1	-	1	2704	c.2607T>A	c.(2605-2607)ctT>ctA	p.L869L	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Silent_p.L746L	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	869					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TTGATTTGCTAAGTACATAAT	0.373000														15			6		0	0	0.001168	0	0
CLIP4	79745	broad.mit.edu	37	2	29397296	29397296	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:29397296G>A	uc002rmv.3	+	14	2020	c.1781G>A	c.(1780-1782)aGa>aAa	p.R594K	CLIP4_uc002rmu.3_Missense_Mutation_p.R594K|CLIP4_uc002rmw.3_Non-coding_Transcript	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	594										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					ATTAACAGAAGAAATGCTTTT	0.348000														38			23		0	0	0.002299	0	0
SLC13A4	26266	broad.mit.edu	37	7	135378926	135378926	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:135378926C>T	uc003vtb.3	-	9	1769	c.1080G>A	c.(1078-1080)gaG>gaA	p.E360E	SLC13A4_uc003vta.3_Silent_p.E359E	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	359						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GGATCCTCTTCTCTGACAACT	0.413000														47			20		0	0	0.001882	0	0
MCM6	4175	broad.mit.edu	37	2	136624252	136624252	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:136624252G>A	uc002tuw.3	-	4	738	c.662C>T	c.(661-663)cCc>cTc	p.P221L		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	221					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TAAACTGCGGGGGATACTCCC	0.463000														47			23		0	0	0.007291	0	0
C9orf84	158401	broad.mit.edu	37	9	114538131	114538131	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:114538131C>T	uc004bfr.3	-	2	325	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfs.1_Missense_Mutation_p.E128K	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	64										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTAAAGACTTCATTGTAGTCC	0.353000														45			13		0	0	0.004007	0	0
RIPK4	54101	broad.mit.edu	37	21	43176852	43176852	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:43176852A>T	uc002yzn.1	-	1	355	c.307T>A	c.(307-309)Tcc>Acc	p.S103T		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	103						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.S103F(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTTTCCAGGGAGCCCGTCTCC	0.582000														18			8		0	0	0.006214	0	0
PRB1	5542	broad.mit.edu	37	12	11506862	11506862	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:11506862C>T	uc001qzw.1	-	2	212	c.175G>A	c.(175-177)Gga>Aga	p.G59R	PRB1_uc001qzu.1_Missense_Mutation_p.G59R|PRB1_uc001qzv.1_Missense_Mutation_p.G59R	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	59	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].					extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGGTGGTCCTTGTGGCTTT	0.597000														134			118		0	0	0.003610	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178541003	178541003	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:178541003G>A	uc003mjw.3	-	21	3603	c.3501C>T	c.(3499-3501)atC>atT	p.I1167I		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	1167					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCAGGCCATGGATTTTGTAGG	0.527000														63			20		0	0	0.008871	0	0
TMEM45A	55076	broad.mit.edu	37	3	100277280	100277280	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:100277280G>A	uc003dua.1	+	4	682	c.483G>A	c.(481-483)cgG>cgA	p.R161R	TMEM45A_uc003dtz.1_Silent_p.R145R	NM_018004	NP_060474	Q9NWC5	TM45A_HUMAN	Homo sapiens transmembrane protein 45A (TMEM45A), mRNA.	145						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						CTCATGGCCGGGAAATGCTGG	0.483000														74			10		0	0	0.006214	0	0
PTPRC	5788	broad.mit.edu	37	1	198687359	198687359	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:198687359T>C	uc001gur.1	+	13	1761	c.1581T>C	c.(1579-1581)gtT>gtC	p.V527V	PTPRC_uc001gut.1_Silent_p.V366V|PTPRC_uc009wzf.1_Silent_p.V415V|PTPRC_uc021pgy.1_Silent_p.V481V|PTPRC_uc010ppg.1_Silent_p.V463V	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	527	Fibronectin type-III 2.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATACTCTGGTTAGAAATGAGT	0.393000														23			11		0	0	0.008291	0	0
WIPF3	644150	broad.mit.edu	37	7	29927732	29927732	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:29927732C>T	uc022aaz.1	+	5	1330	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L	WIPF3_uc003taj.2_Missense_Mutation_p.S383L	NM_001080529	NP_001073998	B8ZZV2	B8ZZV2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 3 (WIPF3), mRNA.	383										breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						CCTGCGAGATCACCTACCACA	0.567000														27			9		0	0	0.008291	0	0
LIPI	149998	broad.mit.edu	37	21	15538721	15538721	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:15538721C>T	uc002yjm.3	-	4	768	c.758G>A	c.(757-759)gGa>gAa	p.G253E	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Intron|LIPI_uc021whh.1_Missense_Mutation_p.G232E|LIPI_uc021whi.1_Missense_Mutation_p.G67E|LIPI_uc021whj.1_Missense_Mutation_p.G232E|LIPI_uc021whe.1_Missense_Mutation_p.G232E|LIPI_uc021whf.1_Missense_Mutation_p.G232E	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	232					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.G253E(4)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTGTTTATTTCCTCCATTTGG	0.343000														27			19		0	0	0.010504	0	0
BIRC5	332	broad.mit.edu	37	17	76219625	76219625	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:76219625C>T	uc002jvg.3	+	3	540	c.419C>T	c.(418-420)gCc>gTc	p.A140V	BIRC5_uc002jvf.3_Missense_Mutation_p.A163V|BIRC5_uc002jvh.3_Missense_Mutation_p.P101S|BIRC5_uc002jvi.3_Non-coding_Transcript	NM_001168	NP_001159	O15392	BIRC5_HUMAN	Homo sapiens baculoviral IAP repeat containing 5 (BIRC5), transcript variant 1, mRNA.	140					G2/M transition of mitotic cell cycle|anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	Ran GTPase binding|caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			CAGCTGGCTGCCATGGATTGA	0.547000														13			25		0	0	0.002780	0	0
GAD1	2571	broad.mit.edu	37	2	171702044	171702044	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:171702044C>T	uc002ugi.3	+	7	1202	c.780C>T	c.(778-780)atC>atT	p.I260I		NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	260					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGTACAGCATCATGGCTGCTC	0.512000														66			21		0	0	0.003330	0	0
CCDC144C	348254	broad.mit.edu	37	17	20239232	20239232	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:20239232C>T	uc010cqy.1	+	2		c.646C>T								Homo sapiens coiled-coil domain containing 144C (CCDC144C), non-coding RNA.											breast(2)|endometrium(1)|kidney(4)|lung(4)|prostate(1)|urinary_tract(1)	13						CCATCTGTATCACCATCAATG	0.413000														30			24		0	0	0.007291	0	0
CDH4	1002	broad.mit.edu	37	20	60419756	60419756	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:60419756C>T	uc002ybn.2	+	4	697	c.609C>T	c.(607-609)atC>atT	p.I203I	CDH4_uc002ybr.2_Silent_p.I166I|CDH4_uc002ybp.2_Silent_p.I129I	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	203	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACATCCCCATCCGGTACAGCA	0.602000														48			21		0	0	0.004656	0	0
ZMYND12	84217	broad.mit.edu	37	1	42905641	42905641	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:42905641G>A	uc001chj.3	-	3	750	c.480C>T	c.(478-480)gtC>gtT	p.V160V	ZMYND12_uc010ojt.2_Silent_p.V50V	NM_032257	NP_115633	Q9H0C1	ZMY12_HUMAN	Homo sapiens zinc finger, MYND-type containing 12 (ZMYND12), transcript variant 1, mRNA.	160						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTGATTTGAGGACTGTCCACT	0.443000														112			21		0	0	0.003330	0	0
LAMA3	3909	broad.mit.edu	37	18	21483903	21483903	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:21483903G>A	uc002kuq.3	+	49	6411	c.6325G>A	c.(6325-6327)Gaa>Aaa	p.E2109K	LAMA3_uc002kur.3_Missense_Mutation_p.E2053K|LAMA3_uc002kus.4_Missense_Mutation_p.E500K|LAMA3_uc002kut.4_Missense_Mutation_p.E444K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2109	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATAGGAATATGAAAAATTAGC	0.363000														43			7		0	0	0.003080	0	0
MEI1	150365	broad.mit.edu	37	22	42189900	42189900	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:42189900G>A	uc003baz.1	+	26	3438	c.3413G>A	c.(3412-3414)cGg>cAg	p.R1138Q	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Missense_Mutation_p.R524Q|MEI1_uc003bbc.1_Missense_Mutation_p.R506Q|MEI1_uc010gym.1_Missense_Mutation_p.R471Q|MEI1_uc003bbd.1_Missense_Mutation_p.R381Q|MEI1_uc010gyn.1_Non-coding_Transcript|MEI1_uc003bbe.1_Non-coding_Transcript|MEI1_uc011apf.1_Missense_Mutation_p.R152Q|MEI1_uc010gyo.1_3'UTR|MEI1_uc003bbg.2_Missense_Mutation_p.R152Q	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	1138							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTGGATGCCCGGAGCCCAGAC	0.507000														21			5		0	0	0.001168	0	0
VN1R5	317705	broad.mit.edu	37	1	247419998	247419998	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:247419998G>A	uc010pyu.2	+	1	622	c.622G>A	c.(622-624)Gag>Aag	p.E208K		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	209					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			TTTTGCCCATGAGCTACACCC	0.463000														183			63		0	0	0.003610	0	0
DENND4A	10260	broad.mit.edu	37	15	66048628	66048628	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:66048628G>A	uc002api.3	-	2	546	c.161C>T	c.(160-162)tCt>tTt	p.S54F	DENND4A_uc002aph.3_Missense_Mutation_p.S54F|DENND4A_uc002apj.3_Missense_Mutation_p.S54F|DENND4A_uc010ujj.1_Missense_Mutation_p.S54F	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	54	MABP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTCCCCAAGAGATTTGATAAT	0.378000														17			5		0	0	0.000602	0	0
MYLK4	340156	broad.mit.edu	37	6	2683362	2683362	+	Missense_Mutation	SNP	C	T	T	rs147055313	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:2683362C>T	uc003mty.4	-	6	877	c.580G>A	c.(580-582)Gat>Aat	p.D194N		NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA.	194	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TAGCTCTCATCGATGATGCGG	0.488000														34			19		0	0	0.008871	0	0
WDR96	80217	broad.mit.edu	37	10	105923860	105923860	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:105923860C>T	uc001kxw.3	-	23	3354	c.3238G>A	c.(3238-3240)Gat>Aat	p.D1080N	WDR96_uc009xxq.3_Missense_Mutation_p.D388N	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1080										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACCTCCTCATCTTGCACAACA	0.443000														30			10		0	0	0.000978	0	0
SLC26A3	1811	broad.mit.edu	37	7	107430122	107430122	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:107430122C>T	uc003ver.2	-	5	793	c.582G>A	c.(580-582)ggG>ggA	p.G194G	SLC26A3_uc003ves.2_Silent_p.G159G	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	194					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TCCGCAGAATCCCAAAAGCCA	0.418000														13			4		0	0	0.000602	0	0
FBXO41	150726	broad.mit.edu	37	2	73490898	73490898	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:73490898G>A	uc021vjh.1	-	6	2073	c.1983C>T	c.(1981-1983)atC>atT	p.I661I		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	Homo sapiens F-box protein 41 (FBXO41), mRNA.	661						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						AGATGCGCAGGATCAGCAGGT	0.642000														46			23		0	0	0.003330	0	0
BCR	613	broad.mit.edu	37	22	23603604	23603604	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:23603604C>T	uc002zww.3	+	3	2225	c.1629C>T	c.(1627-1629)atC>atT	p.I543I	BCR_uc002zwx.3_Silent_p.I543I|BCR_uc011aiy.2_Silent_p.I132I|BCR_uc010gtx.1_Silent_p.I46I|FBXW4P1_uc010gty.3_5'Flank	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	543	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						GTCAGCAGATCGAGACCATCT	0.587000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									90			46		0	0	0.003214	0	0
NCAN	1463	broad.mit.edu	37	19	19351455	19351455	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:19351455C>T	uc002nlz.3	+	11	3552	c.3453C>T	c.(3451-3453)atC>atT	p.I1151I	NCAN_uc002nma.3_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1151	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			ACGACAGGATCGTGGAGAGAG	0.637000														53			20		0	0	0.001882	0	0
CUZD1	50624	broad.mit.edu	37	10	124597036	124597036	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:124597036C>T	uc001lgs.3	-	5	1434	c.483G>A	c.(481-483)ttG>ttA	p.L161L	CUZD1_uc001lgp.3_5'UTR|CUZD1_uc009yad.3_5'UTR|CUZD1_uc009yaf.3_Intron|CUZD1_uc001lgr.3_5'UTR|CUZD1_uc010qty.2_5'UTR|CUZD1_uc009yae.3_5'UTR|CUZD1_uc010qtz.2_Silent_p.L161L	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	161	CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		AGGATCCTTCCAAGGTATCCA	0.423000														38			10		0	0	0.008291	0	0
TNS4	84951	broad.mit.edu	37	17	38645208	38645208	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:38645208G>A	uc010cxb.3	-	2	617	c.453C>T	c.(451-453)atC>atT	p.I151I		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	151					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGGTCACCTCGATGTACTTTA	0.577000														23			47		0	0	0.003610	0	0
MYH11	4629	broad.mit.edu	37	16	15815375	15815375	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:15815375C>T	uc002ddx.3	-	32	4610	c.4503G>A	c.(4501-4503)gaG>gaA	p.E1501E	MYH11_uc002ddv.3_Silent_p.E1501E|MYH11_uc002ddw.3_Silent_p.E1494E|MYH11_uc002ddy.3_Silent_p.E1494E|MYH11_uc010bvg.3_Silent_p.E1326E|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Silent_p.E200E|NDE1_uc002ddz.1_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1494					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.E1501K(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTTCCAAGGCCTCTTCAAGGG	0.542000			T	CBFB	AML									43			14		0	0	0.002450	0	0
KRT78	196374	broad.mit.edu	37	12	53239986	53239986	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:53239986C>T	uc001sbc.1	-	3	815	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	251	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTCACTTCTTCATTCAGATGC	0.547000														9			13		0	0	0.001368	0	0
FGD6	55785	broad.mit.edu	37	12	95500772	95500772	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:95500772C>T	uc001tdp.4	-	12	3599	c.3375G>A	c.(3373-3375)ggG>ggA	p.G1125G	FGD6_uc009zsx.3_Silent_p.G258G|FGD6_uc001tdq.1_Silent_p.G161G	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	1125	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.G1125W(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GTTTATACATCCCAGACTGCA	0.368000														103			21		0	0	0.006320	0	0
KDM5B	10765	broad.mit.edu	37	1	202709807	202709807	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:202709807G>A	uc009xag.3	-	20	3303	c.3187C>T	c.(3187-3189)Ctg>Ttg	p.L1063L	KDM5B_uc001gyf.3_Silent_p.L1027L|KDM5B_uc001gyg.1_Silent_p.L869L	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1027					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCAACCTGCAGGCCCTCTACA	0.522000														40			22		0	0	0.002780	0	0
TBC1D5	9779	broad.mit.edu	37	3	17202633	17202633	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:17202633G>A	uc010hev.3	-	23	2540	c.2276C>T	c.(2275-2277)cCt>cTt	p.P759L	TBC1D5_uc010heu.3_Missense_Mutation_p.P324L|TBC1D5_uc003cbf.3_Missense_Mutation_p.P737L|TBC1D5_uc003cbe.3_Missense_Mutation_p.P737L	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	737						intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						GGTGCGAAGAGGCTGGGCCTG	0.592000														34			19		0	0	0.007413	0	0
NOS1	4842	broad.mit.edu	37	12	117768619	117768619	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:117768619C>T	uc001twn.2	-	1	967	c.256G>A	c.(256-258)Ggc>Agc	p.G86S	NOS1_uc001twm.2_Missense_Mutation_p.G86S	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	86	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GAGGCAATGCCTCTGAGTACC	0.602000														17			30		0	0	0.002445	0	0
CPA3	1359	broad.mit.edu	37	3	148599312	148599312	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:148599312A>G	uc003ewm.3	+	6	632	c.580A>G	c.(580-582)Acc>Gcc	p.T194A		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	194					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CCGACAGGCAACCAAAACTTA	0.343000														22			7		0	0	0.001984	0	0
KRT38	8687	broad.mit.edu	37	17	39595036	39595036	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:39595036C>T	uc002hwq.1	-	3	1230	c.807G>A	c.(805-807)ctG>ctA	p.L269L		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	269	Coil 2.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GCACCCTGTTCAGGTCAATGG	0.582000														35			53		0	0	0.003610	0	0
KCNC1	3746	broad.mit.edu	37	11	17757825	17757825	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:17757825C>T	uc009yhc.1	+	0	331	c.276C>T	c.(274-276)gcC>gcT	p.A92A	KCNC1_uc001mnk.4_Silent_p.A92A	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	92						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AGGAGCTGGCCTTCTGGGGCA	0.692000														36			19		0	0	0.002299	0	0
VAV1	7409	broad.mit.edu	37	19	6833726	6833726	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:6833726C>T	uc002mfu.1	+	17	1810	c.1713C>T	c.(1711-1713)ttC>ttT	p.F571F	VAV1_uc010xjh.1_Silent_p.F539F|VAV1_uc010dva.1_Silent_p.F571F|VAV1_uc002mfv.1_Silent_p.F516F	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	571					T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCGTAGATTTCCCAGGAACTA	0.537000														85			45		0	0	0.003610	0	0
SLC2A12	154091	broad.mit.edu	37	6	134350794	134350794	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:134350794C>T	uc003qem.1	-	1	340	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	57						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		ATCCCAAGTTCATAACCCACC	0.527000														50			19		0	0	0.007413	0	0
PVR	5817	broad.mit.edu	37	19	45153195	45153195	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:45153195C>T	uc002ozm.3	+	2	841	c.542C>T	c.(541-543)tCa>tTa	p.S181L	PVR_uc010ejs.3_Missense_Mutation_p.S181L|PVR_uc010xxb.2_Missense_Mutation_p.S181L|PVR_uc010xxc.2_Missense_Mutation_p.S181L|PVR_uc002ozn.3_Missense_Mutation_p.S126L	NM_006505	NP_006496	P15151	PVR_HUMAN	Homo sapiens poliovirus receptor (PVR), transcript variant 1, mRNA.	181	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		ACCTGGCACTCAGACCTGGGC	0.632000														196			44		0	0	0.009718	0	0
ENPP4	22875	broad.mit.edu	37	6	46108891	46108891	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:46108891G>A	uc003oxy.3	+	2	1188	c.929G>A	c.(928-930)cGa>cAa	p.R310Q		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	310						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CATAATGATCGAATTCAGCCC	0.323000														28			15		0	0	0.004990	0	0
ZBBX	79740	broad.mit.edu	37	3	167033541	167033541	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:167033541C>T	uc011bpc.2	-	14	1608	c.1271G>A	c.(1270-1272)cGa>cAa	p.R424Q	ZBBX_uc003feq.3_Missense_Mutation_p.R395Q|ZBBX_uc003fep.3_Missense_Mutation_p.R424Q	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	424						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GTTTTACCTTCGTTGACTGTC	0.323000														18			6		0	0	0.003080	0	0
EXOC5	10640	broad.mit.edu	37	14	57676445	57676445	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:57676445G>A	uc001xct.3	-	16	2029	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F	EXOC5_uc001xcs.3_Missense_Mutation_p.S272F|EXOC5_uc010trg.2_Missense_Mutation_p.S538F|EXOC5_uc010trh.2_Missense_Mutation_p.S528F	NM_006544	NP_006535	O00471	EXOC5_HUMAN	Homo sapiens exocyst complex component 5 (EXOC5), mRNA.	593					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						CCCATCCATGGAATTTTTAAT	0.363000														8			10		0	0	0.008291	0	0
HRASLS5	117245	broad.mit.edu	37	11	63230976	63230976	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:63230976C>T	uc001nwy.2	-	5	1013	c.839G>A	c.(838-840)tGa>tAa	p.*280*	HRASLS5_uc001nwz.2_Silent_p.*270*|HRASLS5_uc010rmq.1_3'UTR|HRASLS5_uc009yos.2_Non-coding_Transcript	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA.	0										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TCATCACCTTCAGGCAGTTAT	0.468000														134			33		0	0	0.005524	0	0
OR4D11	219986	broad.mit.edu	37	11	59271963	59271963	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:59271963C>T	uc001noa.1	+	0	915	c.915C>T	c.(913-915)ctC>ctT	p.L305L		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						AGAGAAGACTCGTGCCTTCTG	0.527000														19			13		0	0	0.001368	0	0
GPR98	84059	broad.mit.edu	37	5	90001301	90001301	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:90001301G>A	uc003kju.3	+	36	8567	c.8471G>A	c.(8470-8472)gGa>gAa	p.G2824E	GPR98_uc003kjt.3_Missense_Mutation_p.G530E|GPR98_uc003kjv.3_Missense_Mutation_p.G424E	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2824					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAACCACATGGAGTTTTAAAT	0.418000														76			20		0	0	0.010504	0	0
CNBD1	168975	broad.mit.edu	37	8	87917373	87917373	+	Silent	SNP	C	T	T	rs146302968	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:87917373C>T	uc003ydy.2	+	2	271	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	75										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TAAAGTATTCCTGCACCAAAA	0.368000														12			6		0	0	0.003080	0	0
SORL1	6653	broad.mit.edu	37	11	121457003	121457003	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:121457003G>C	uc001pxx.3	+	26	3908	c.3779G>C	c.(3778-3780)cGt>cCt	p.R1260P	SORL1_uc010rzp.1_Missense_Mutation_p.R106P	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1260	LDL-receptor class A 5.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GATGGTCTGCGTGATTGCTCT	0.483000														117			13		0	0	0.002450	0	0
C11orf85	283129	broad.mit.edu	37	11	64717230	64717230	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:64717230C>T	uc001ocb.1	-	4	398	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	C11orf85_uc001occ.1_Non-coding_Transcript|C11orf85_uc001ocd.1_Intron	NM_001037225	NP_001032302	Q3KP22	CK085_HUMAN	Homo sapiens chromosome 11 open reading frame 85 (C11orf85), mRNA.	112										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						GACAGGTTTTCATGGAACCAT	0.433000														51			28		0	0	0.008361	0	0
PLXNB1	5364	broad.mit.edu	37	3	48464919	48464919	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:48464919G>C	uc003csw.2	-	2	1372	c.1102C>G	c.(1102-1104)Cca>Gca	p.P368A	PLXNB1_uc003csu.2_Missense_Mutation_p.P368A|PLXNB1_uc003csx.2_Missense_Mutation_p.P368A|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	368	Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCACCACTGGCAGCTGTGCA	0.597000														57			4		0	0	0.000602	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62887172	62887172	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:62887172T>A	uc003peg.2	-	1	384	c.137A>T	c.(136-138)gAa>gTa	p.E46V		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		ATACTTCTTTTCTTCGTCTTC	0.333000														18			11		0	0	0.000978	0	0
REM2	161253	broad.mit.edu	37	14	23354209	23354209	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:23354209G>A	uc001whf.1	+	1	495	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	REM2_uc010tnd.1_Missense_Mutation_p.E136K	NM_173527	NP_775798	Q8IYK8	REM2_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP binding 2 (REM2), mRNA.	144					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		CAGTGCTCACGAACCGGAGAA	0.612000														18			17		0	0	0.004007	0	0
MAGI2	9863	broad.mit.edu	37	7	77756673	77756673	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:77756673G>A	uc003ugx.3	-	18	3518	c.3264C>T	c.(3262-3264)ttC>ttT	p.F1088F	MAGI2_uc003ugy.3_Silent_p.F1074F|MAGI2_uc010ldx.1_Silent_p.F681F	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	1088	Pro-rich.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGTAGTCTGTGAATGGAGGCT	0.537000														48			20		0	0	0.010504	0	0
UBE4B	10277	broad.mit.edu	37	1	10182103	10182103	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:10182103C>T	uc021ogc.1	+	10	2364	c.1676C>T	c.(1675-1677)aCc>aTc	p.T559I	UBE4B_uc001aqs.4_Missense_Mutation_p.T508I|UBE4B_uc001aqr.4_Missense_Mutation_p.T379I|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Intron	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	508					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTGGTGAGAACCACTCACCAG	0.488000														53			27		0	0	0.009535	0	0
SLC26A5	375611	broad.mit.edu	37	7	103050852	103050852	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:103050852C>T	uc003vbz.3	-	6	977	c.715G>A	c.(715-717)Gga>Aga	p.G239R	SLC26A5_uc003vbt.2_Missense_Mutation_p.G239R|SLC26A5_uc003vbu.2_Missense_Mutation_p.G239R|SLC26A5_uc003vbv.2_Missense_Mutation_p.G239R|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.G239R	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	239					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.G239V(1)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GAAAAGATTCCACTGTACCGC	0.433000														37			14		0	0	0.003163	0	0
OR5H14	403273	broad.mit.edu	37	3	97868678	97868678	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:97868678T>C	uc003dsg.1	+	0	449	c.449T>C	c.(448-450)gTa>gCa	p.V150A		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTGTCATATGTAGGTGGTCTT	0.378000														98			18		0	0	0.010504	0	0
DNAH9	1770	broad.mit.edu	37	17	11584087	11584087	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:11584087G>A	uc002gne.3	+	18	3692	c.3624G>A	c.(3622-3624)gtG>gtA	p.V1208V	DNAH9_uc010coo.3_Silent_p.V502V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1208	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)		CCATTACTGTGAAGCAGCAGG	0.527000														11			8		0	0	0.006214	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359241	64359241	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:64359241C>T	uc001oam.1	+	0	960	c.213C>T	c.(211-213)gcC>gcT	p.A71A	SLC22A12_uc009ypr.1_Silent_p.A71A|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Silent_p.A71A|SLC22A12_uc001oan.1_Silent_p.A71A|SLC22A12_uc009ypt.3_5'Flank	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	71					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GTCCTGAGGCCCTCCTGGCTA	0.682000														34			10		0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9089120	9089120	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9089120G>A	uc002mkp.3	-	0	2899	c.2695C>T	c.(2695-2697)Ccc>Tcc	p.P899S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	899	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						TCCATGGTGGGGAATACTGGG	0.512000														18			3		0	0	0.004672	0	0
SYT16	83851	broad.mit.edu	37	14	62536387	62536387	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:62536387A>C	uc001xfu.1	+	1	787	c.590A>C	c.(589-591)cAa>cCa	p.Q197P	SYT16_uc010tsd.1_Missense_Mutation_p.Q197P	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	197										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTGATCAAACAATTTGAGATT	0.488000														68			52		0	0	0.003610	0	0
ZNF441	126068	broad.mit.edu	37	19	11888539	11888539	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:11888539C>T	uc010dyj.3	+	1	311	c.117C>T	c.(115-117)aaC>aaT	p.N39N	ZNF441_uc002msn.4_5'UTR	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	Homo sapiens zinc finger protein 441 (ZNF441), mRNA.	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCATCAGAAACCTGGACTGTA	0.408000														22			8		0	0	0.003080	0	0
COL4A6	1288	broad.mit.edu	37	X	107431790	107431790	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:107431790C>T	uc004enw.4	-	20	1650	c.1547G>A	c.(1546-1548)gGa>gAa	p.G516E	COL4A6_uc004env.4_Missense_Mutation_p.G515E|COL4A6_uc011msn.2_Missense_Mutation_p.G515E|COL4A6_uc010npk.3_Missense_Mutation_p.G515E	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	516	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GCCTCGATCTCCTCTGGCTCC	0.592000									Alport syndrome with Diffuse Leiomyomatosis					11			23		0	0	0.003330	0	0
TEX15	56154	broad.mit.edu	37	8	30694351	30694351	+	Missense_Mutation	SNP	C	T	T	rs112222282	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:30694351C>T	uc003xil.3	-	2	8300	c.8300G>A	c.(8299-8301)cGa>cAa	p.R2767Q		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2767										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGGCACAAATCGATTAGGAAG	0.378000														19			17		0	0	0.008871	0	0
ITM2C	81618	broad.mit.edu	37	2	231742769	231742769	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:231742769C>T	uc002vqz.3	+	5	879	c.759C>T	c.(757-759)ttC>ttT	p.F253F	ITM2C_uc002vra.3_Silent_p.F206F|ITM2C_uc002vrb.3_Silent_p.F216F|ITM2C_uc002vrc.3_Silent_p.F142F|ITM2C_uc002vrd.3_Silent_p.F105F	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	Homo sapiens integral membrane protein 2C (ITM2C), transcript variant 1, mRNA.	253					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TCCGCCACTTCGAGAACACCT	0.582000														35			14		0	0	0.003163	0	0
TEX15	56154	broad.mit.edu	37	8	30701332	30701332	+	Silent	SNP	T	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:30701332T>G	uc003xil.3	-	0	5202	c.5202A>C	c.(5200-5202)ccA>ccC	p.P1734P		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1734										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GAAATCCACGTGGTTTTCCAA	0.363000														39			9		0	0	0.006214	0	0
INSR	3643	broad.mit.edu	37	19	7172349	7172349	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:7172349G>A	uc002mgd.1	-	4	1329	c.1220C>T	c.(1219-1221)tCc>tTc	p.S407F	INSR_uc002mge.1_Missense_Mutation_p.S407F|INSR_uc002mgf.3_Missense_Mutation_p.S407F	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	407					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCGGAAGAAGGAAAGTGACAC	0.488000														308			51		0	0	0.003610	0	0
CDH11	1009	broad.mit.edu	37	16	64981514	64981514	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:64981514C>T	uc002eoi.3	-	12	2817	c.2383G>A	c.(2383-2385)Gat>Aat	p.D795N	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_3'UTR|CDH11_uc010vin.2_Missense_Mutation_p.D669N	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	795					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.D795Y(2)|p.D794D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGTTAAGAATCGTCATCAAAA	0.363000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				51			13		0	0	0.001855	0	0
CATSPER4	378807	broad.mit.edu	37	1	26526468	26526468	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:26526468C>T	uc010oez.2	+	6	906	c.906C>T	c.(904-906)ttC>ttT	p.F302F	CATSPER4_uc010oey.1_Silent_p.F124F|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	302					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		TCAACCTGTTCGTCATCGTGG	0.517000														20			12		0	0	0.000978	0	0
PSMD13	5719	broad.mit.edu	37	11	251895	251895	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:251895C>T	uc001loo.2	+	9	1242	c.1000C>T	c.(1000-1002)Cac>Tac	p.H334Y	PSMD13_uc010qvr.1_Non-coding_Transcript|PSMD13_uc001lol.2_Missense_Mutation_p.H332Y|PSMD13_uc001lon.2_Missense_Mutation_p.H267Y	NM_175932	NP_787128	Q9UNM6	PSD13_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 (PSMD13), transcript variant 2, mRNA.	332	PCI.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome regulatory particle	protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		CAAACGAGTCCACATGACCTG	0.527000														121			46		0	0	0.003610	0	0
CUZD1	50624	broad.mit.edu	37	10	124600823	124600823	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:124600823C>T	uc001lgs.3	-	3	1055	c.104G>A	c.(103-105)aGt>aAt	p.S35N	CUZD1_uc009yaf.3_Intron|CUZD1_uc001lgr.3_Intron|CUZD1_uc010qty.2_5'UTR|CUZD1_uc009yae.3_Intron|CUZD1_uc010qtz.2_Missense_Mutation_p.S35N	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	35	CUB 1.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		ACCCCCTAGACTGACTGTGCA	0.493000														37			4		0	0	0.000602	0	0
PTPRF	5792	broad.mit.edu	37	1	44083233	44083233	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:44083233A>T	uc001cjr.3	+	23	4529	c.4189A>T	c.(4189-4191)Atc>Ttc	p.I1397F	PTPRF_uc001cjs.3_Missense_Mutation_p.I1388F|PTPRF_uc001cju.3_Missense_Mutation_p.I786F|PTPRF_uc009vwt.3_Missense_Mutation_p.I957F|PTPRF_uc001cjv.3_Missense_Mutation_p.I868F|PTPRF_uc001cjw.3_Missense_Mutation_p.I623F	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1397	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTTACCTCTATCGATGGTGA	0.552000														109			49		0	0	0.003610	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871280	51871280	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:51871280A>C	uc002xwo.3	+	1	2170	c.1283A>C	c.(1282-1284)aAa>aCa	p.K428T	TSHZ2_uc021wex.1_Missense_Mutation_p.K425T	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	428					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCAGTGGAGAAAATGCAGTCG	0.502000														83			35		0	0	0.005524	0	0
SCIN	85477	broad.mit.edu	37	7	12668822	12668822	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:12668822C>T	uc003ssn.4	+	8	1504	c.1294C>T	c.(1294-1296)Ccc>Tcc	p.P432S	SCIN_uc010ktt.3_Non-coding_Transcript|SCIN_uc003sso.4_Missense_Mutation_p.P185S	NM_001112706	NP_149119	Q9Y6U3	ADSV_HUMAN	Homo sapiens scinderin (SCIN), transcript variant 1, mRNA.	432	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CTACACCTATCCCAGAGGACA	0.413000														70			29		0	0	0.002096	0	0
SLC7A13	157724	broad.mit.edu	37	8	87241866	87241866	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:87241866C>T	uc003ydq.1	-	0	739	c.641G>A	c.(640-642)gGa>gAa	p.G214E	SLC7A13_uc003ydr.1_Missense_Mutation_p.G214E	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	214						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TGCAAAATATCCTTGGAAGAT	0.363000														49			6		0	0	0.003080	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270464	1270464	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:1270464G>A	uc002cks.3	+	34	6780	c.6532G>A	c.(6532-6534)Gct>Act	p.A2178T	CACNA1H_uc002ckt.3_Missense_Mutation_p.A2172T|CACNA1H_uc002cku.3_Missense_Mutation_p.A873T|CACNA1H_uc010brj.3_Missense_Mutation_p.A889T|CACNA1H_uc002ckv.3_Missense_Mutation_p.A867T	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2178					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)	GGCCGAGCCCGCTCTGGGTGC	0.746000														44			17		0	0	0.006122	0	0
IVL	3713	broad.mit.edu	37	1	152882695	152882695	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152882695G>A	uc021ozl.1	+	0	422	c.422G>A	c.(421-423)aGa>aAa	p.R141K	IVL_uc001fau.3_Missense_Mutation_p.R141K	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	141					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.K140R(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTAGTCAAGAGAGATGAGCAA	0.502000														33			16		0	0	0.003163	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129370	248129370	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248129370G>A	uc010pzd.2	+	0	737	c.737G>A	c.(736-738)gGa>gAa	p.G246E	OR2L13_uc001ids.3_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S245T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATGAGCTCAGGAAAAGGACAG	0.478000														29			16		0	0	0.004990	0	0
TM9SF1	10548	broad.mit.edu	37	14	24680673	24680673	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:24680673G>A	uc010tob.1	-	2	1019	c.385C>T	c.(385-387)Ctt>Ttt	p.L129F	TM9SF1_uc010toc.2_Non-coding_Transcript|TM9SF1_uc001wni.3_Missense_Mutation_p.L146F|TM9SF1_uc001wnj.3_Missense_Mutation_p.L146F	NM_006405	NP_006396	O15321	TM9S1_HUMAN	Homo sapiens transmembrane 9 superfamily member 1 (TM9SF1), transcript variant 1, mRNA.	0					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		ATGGTACGAAGGACTTCTGCA	0.557000														12			3		0	0	0.004672	0	0
DSG1	1828	broad.mit.edu	37	18	28934722	28934722	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:28934722G>A	uc002kwp.3	+	14	2775	c.2563G>A	c.(2563-2565)Gat>Aat	p.D855N	DSG1_uc010xbp.2_Missense_Mutation_p.D214N	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	855					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.H854N(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GCACGTTCACGATAACCGACC	0.517000														77			36		0	0	0.006230	0	0
CARD11	84433	broad.mit.edu	37	7	2968236	2968236	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:2968236G>A	uc003smv.3	-	12	2084	c.1750C>T	c.(1750-1752)Cgc>Tgc	p.R584C		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	584					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ACCCACCTGCGATGGGGCGCG	0.662000			Mis		DLBCL									51			19		0	0	0.002780	0	0
MET	4233	broad.mit.edu	37	7	116411553	116411553	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:116411553G>A	uc003vij.3	+	13	2918	c.2731_splice	c.e13-1	p.W911_splice	MET_uc010lkh.3_Splice_Site_p.W929_splice|MET_uc011knj.2_Splice_Site_p.W481_splice	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	911					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CATTTTTAGTGGAAGCAAGCA	0.368000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					62			10		0	0	0.006214	0	0
HHIPL2	79802	broad.mit.edu	37	1	222721128	222721128	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:222721128C>T	uc001hnh.1	-	0	317	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	87					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCAAAATATTCCATGATGTCC	0.522000														341			191		0	0	0.003610	0	0
MSR1	4481	broad.mit.edu	37	8	16007784	16007784	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:16007784C>T	uc010lsu.3	-	6	1053	c.989G>A	c.(988-990)gGc>gAc	p.G330D	MSR1_uc003wwz.3_Missense_Mutation_p.G312D|MSR1_uc003wxa.3_Missense_Mutation_p.G312D|MSR1_uc003wxb.3_Missense_Mutation_p.G312D|MSR1_uc011kxz.2_Missense_Mutation_p.G86D	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	312	Collagen-like.				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)		TCCAGGAAAGCCAATTGCTCC	0.378000														35			11		0	0	0.003163	0	0
TCL6	27004	broad.mit.edu	37	14	96128882	96128882	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:96128882C>T	uc001yep.1	+	4		c.1011C>T			TCL6_uc021sbf.1_Intron|TCL6_uc021sbg.1_Non-coding_Transcript|TCL6_uc021sbh.1_5'Flank|TCL6_uc001yet.1_5'Flank|TCL6_uc001yeu.2_5'Flank|TCL6_uc001yev.2_5'Flank|TCL1B_uc021sbi.1_5'Flank|TCL1B_uc001yew.3_5'Flank|TCL1B_uc001yex.3_5'Flank|TCL1B_uc010avj.3_5'Flank					Homo sapiens T-cell leukemia/lymphoma 6 (non-protein coding) (TCL6), non-coding RNA.											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		CATCTGACTTCCATAGACACA	0.403000			T	TRA@	T-ALL									97			27		0	0	0.007291	0	0
PCDH15	65217	broad.mit.edu	37	10	55569166	55569166	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:55569166C>T	uc021pqw.1	-	35	5048	c.4653G>A	c.(4651-4653)atG>atA	p.M1551I	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Missense_Mutation_p.M1546I|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)				TCTTAAAAATCATGGGGAATA	0.423000										HNSCC(58;0.16)				59			13		0	0	0.001855	0	0
BEGAIN	57596	broad.mit.edu	37	14	101005161	101005161	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:101005161C>T	uc010txa.2	-	5	1073	c.927G>A	c.(925-927)gaG>gaA	p.E309E	BEGAIN_uc001yhp.3_Silent_p.E245E|BEGAIN_uc001yhq.3_Silent_p.E309E	NM_001159531	NP_065887	Q9BUH8	BEGIN_HUMAN	Homo sapiens brain-enriched guanylate kinase-associated homolog (rat) (BEGAIN), transcript variant 1, mRNA.	309						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CGTGCTCCTTCTCCTCCGACG	0.682000														17			10		0	0	0.000978	0	0
GRIK3	2899	broad.mit.edu	37	1	37285336	37285336	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:37285336C>T	uc001caz.2	-	12	2008	c.1873_splice	c.e12+1	p.G625_splice	GRIK3_uc001cba.1_Splice_Site_p.G625_splice	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	625					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AGGGTGCATACCTTGCTGCAT	0.572000														20			7		0	0	0.004482	0	0
ENAM	10117	broad.mit.edu	37	4	71510536	71510536	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:71510536G>A	uc011caw.1	+	8	3674	c.3393G>A	c.(3391-3393)caG>caA	p.Q1131Q		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	1131					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CCAATGTACAGGACCAGGTAC	0.423000														19			7		0	0	0.004482	0	0
FLG	2312	broad.mit.edu	37	1	152282675	152282675	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152282675C>T	uc001ezu.1	-	2	4723	c.4687G>A	c.(4687-4689)Gaa>Aaa	p.E1563K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1563	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGAAGGTTCATGGTGACGT	0.587000									Ichthyosis					144			80		0	0	0.003610	0	0
TBX18	9096	broad.mit.edu	37	6	85446431	85446431	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:85446431G>A	uc003pkl.1	-	7	1796	c.1796C>T	c.(1795-1797)tCa>tTa	p.S599L	TBX18_uc010kbq.2_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	599					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TACTTGAGATGATGACAGAGT	0.428000														37			21		0	0	0.003330	0	0
RNF126	55658	broad.mit.edu	37	19	648902	648902	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:648902G>A	uc010drs.3	-	6	762	c.650C>T	c.(649-651)cCc>cTc	p.P217L		NM_194460	NP_919442	Q9BV68	RN126_HUMAN	Homo sapiens ring finger protein 126 (RNF126), mRNA.	217							protein binding|zinc ion binding			lung(1)	1		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)		CTCAGTGACGGGGACGGTGGG	0.567000														26			10		0	0	0.006214	0	0
LRFN1	57622	broad.mit.edu	37	19	39805083	39805083	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:39805083G>A	uc002okw.2	-	0	894	c.894C>T	c.(892-894)ccC>ccT	p.P298P		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	298	LRRCT.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGATCAGCGGGGGCTCACACA	0.711000														7			8		0	0	0.001368	0	0
SYNE1	23345	broad.mit.edu	37	6	152779912	152779912	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:152779912G>A	uc021zhb.1	-	19	2771	c.2548C>T	c.(2548-2550)Ctt>Ttt	p.L850F	SYNE1_uc003qot.4_Missense_Mutation_p.L857F|SYNE1_uc003qou.4_Missense_Mutation_p.L850F|SYNE1_uc010kjb.1_Missense_Mutation_p.L833F|SYNE1_uc003qow.3_Missense_Mutation_p.L145F|SYNE1_uc003qox.1_Missense_Mutation_p.L366F|SYNE1_uc003qoz.2_Missense_Mutation_p.L282F|SYNE1_uc003qoy.2_Missense_Mutation_p.L417F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	850					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGTTTAAAAAGGGCACTCGAT	0.383000										HNSCC(10;0.0054)				38			19		0	0	0.002299	0	0
DICER1	23405	broad.mit.edu	37	14	95570178	95570178	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:95570178G>A	uc001ydw.2	-	21	3767	c.3555C>T	c.(3553-3555)gcC>gcT	p.A1185A	DICER1_uc010avh.1_Silent_p.A83A|DICER1_uc021sbc.1_Silent_p.A1185A|DICER1_uc001ydv.2_Silent_p.A1175A|DICER1_uc001ydx.2_Silent_p.A1185A|DICER1_uc001ydy.1_Silent_p.A37A|DICER1_uc021sbd.1_Silent_p.A467A	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1185					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AACTGCCATTGGCGAGATTTT	0.423000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					38			28		0	0	0.007291	0	0
CECR2	27443	broad.mit.edu	37	22	18020357	18020357	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:18020357C>T	uc010gqw.1	+	12	1680	c.1680C>T	c.(1678-1680)ccC>ccT	p.P560P	CECR2_uc010gqv.1_Silent_p.P421P|CECR2_uc002zml.2_Silent_p.P421P	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	604					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)		GCCGAGCGCCCTCTTCTGGGG	0.627000														38			16		0	0	0.008871	0	0
ADAM18	8749	broad.mit.edu	37	8	39502979	39502979	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:39502979G>A	uc003xni.3	+	10	1087	c.1032G>A	c.(1030-1032)atG>atA	p.M344I	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.M320I	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	344	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.M344I(2)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATGCATCATGAATCATGAAG	0.308000														35			5		0	0	0.000602	0	0
ZMYND8	23613	broad.mit.edu	37	20	45927583	45927583	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:45927583G>A	uc010zxy.1	-	3	446	c.364C>T	c.(364-366)Cac>Tac	p.H122Y	ZMYND8_uc010ghr.1_Missense_Mutation_p.H70Y|ZMYND8_uc002xst.1_Missense_Mutation_p.H70Y|ZMYND8_uc002xsu.1_Missense_Mutation_p.H95Y|ZMYND8_uc002xsv.1_Missense_Mutation_p.H70Y|ZMYND8_uc002xsw.1_5'UTR|ZMYND8_uc002xsx.1_5'UTR|ZMYND8_uc002xsy.1_Missense_Mutation_p.H70Y|ZMYND8_uc002xsz.1_Missense_Mutation_p.H70Y|ZMYND8_uc002xta.1_Missense_Mutation_p.H95Y|ZMYND8_uc002xtb.1_Missense_Mutation_p.H115Y|ZMYND8_uc002xss.2_Missense_Mutation_p.H95Y|ZMYND8_uc010zxz.1_Missense_Mutation_p.H90Y|ZMYND8_uc002xtc.1_Missense_Mutation_p.H115Y|ZMYND8_uc002xtd.1_Missense_Mutation_p.H90Y|ZMYND8_uc002xte.1_Missense_Mutation_p.H95Y|ZMYND8_uc010zya.1_Missense_Mutation_p.H95Y|ZMYND8_uc002xtf.1_Missense_Mutation_p.H115Y|ZMYND8_uc002xtg.3_Missense_Mutation_p.H89Y|ZMYND8_uc010ghs.2_Missense_Mutation_p.H89Y|ZMYND8_uc002xth.3_Missense_Mutation_p.H115Y	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	95							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CCTTCCCGGTGACAAACCCAG	0.517000														49			16		0	0	0.004990	0	0
MADD	8567	broad.mit.edu	37	11	47330565	47330565	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:47330565G>A	uc001ner.1	+	25	4094	c.3903G>A	c.(3901-3903)gaG>gaA	p.E1301E	MADD_uc001neq.2_Intron|MADD_uc001nev.1_Intron|MADD_uc001nes.1_Intron|MADD_uc001net.1_Intron|MADD_uc009yln.1_Intron|MADD_uc001neu.1_Intron|MADD_uc001nez.2_Intron|MADD_uc001new.2_Intron|MADD_uc001nex.2_Silent_p.E1301E|MADD_uc009ylo.3_Silent_p.E215E	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	1301					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ACCAGTTAGAGGATGCAGCTA	0.478000														78			30		0	0	0.004289	0	0
GLB1L2	89944	broad.mit.edu	37	11	134240215	134240216	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:134240215_134240216TC>AT	uc001qhp.3	+	11	1325_1326	c.1137_1138TC>AT	c.(1135-1140)cttctt>ctATtt	p.L380F	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	380					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CACCTGACCTTCTTCCCAAGAT	0.604000														86			5		0	0	0.004672	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555701	155555701	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:155555701C>T	uc002tyv.1	+	0	609	c.414C>T	c.(412-414)atC>atT	p.I138I	KCNJ3_uc010zce.1_Silent_p.I138I|KCNJ3_uc021vrh.1_Silent_p.I138I	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	138					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TCTTCTTCATCGAGACGGAGG	0.567000														25			6		0	0	0.001168	0	0
ADAM7	8756	broad.mit.edu	37	8	24346778	24346778	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:24346778C>T	uc003xeb.3	+	11	1311	c.1198C>T	c.(1198-1200)Cat>Tat	p.H400Y	ADAM7_uc003xec.3_Missense_Mutation_p.H172Y	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	400					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTACAATTTTCATGATTTCCA	0.388000														31			9		0	0	0.006214	0	0
CATSPER1	117144	broad.mit.edu	37	11	65788969	65788969	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:65788969G>A	uc001ogt.3	-	3	1827	c.1689C>T	c.(1687-1689)ctC>ctT	p.L563L		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	563					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CCACTGACCTGAGCCTCCGCA	0.617000														30			12		0	0	0.001855	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420143	56420143	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:56420143C>T	uc002rzn.3	+	1	1310	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	270	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AACCCCAGATCGCCCCAAAGC	0.657000														30			8		0	0	0.003080	0	0
PVALB	5816	broad.mit.edu	37	22	37209712	37209712	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:37209712C>T	uc010gwz.3	-	2	312	c.282G>A	c.(280-282)ggG>ggA	p.G94G	PVALB_uc003apx.3_Silent_p.G94G	NM_002854	NP_002845	P20472	PRVA_HUMAN	Homo sapiens parvalbumin (PVALB), mRNA.	94	EF-hand 2.						calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						TTTTGCCGTCCCCATCTTTGT	0.507000														96			28		0	0	0.002445	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278537	36278537	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:36278537C>T	uc002obs.2	+	20	2731	c.2587C>T	c.(2587-2589)Ccc>Tcc	p.P863S	ARHGAP33_uc002obt.2_Intron|ARHGAP33_uc002obv.1_Missense_Mutation_p.P612S	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	1000					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						ATGTTCTGTCCCCTCACAGGT	0.706000														40			18		0	0	0.001882	0	0
FAM83B	222584	broad.mit.edu	37	6	54805315	54805315	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:54805315T>C	uc003pck.3	+	4	1662	c.1546T>C	c.(1546-1548)Tta>Cta	p.L516L		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	516										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGGATCAGCTTTAGGTGACCG	0.408000														43			8		0	0	0.003080	0	0
THBS2	7058	broad.mit.edu	37	6	169623568	169623568	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:169623568C>T	uc003qwt.3	-	18	3024	c.2776G>A	c.(2776-2778)Gat>Aat	p.D926N		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	926					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCCCGTCCATCACCTATGCAC	0.398000														45			14		0	0	0.001855	0	0
MYH2	4620	broad.mit.edu	37	17	10443995	10443995	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10443995C>T	uc010coi.3	-	10	1052	c.924G>A	c.(922-924)acG>acA	p.T308T	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.T308T|MYH2_uc010coj.3_Silent_p.T308T	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	308	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.T308T(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATATGGGTTCGTGGTAATCA	0.388000														18			14		0	0	0.004007	0	0
NFIA	4774	broad.mit.edu	37	1	61824904	61824904	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:61824904G>A	uc010oos.2	+	6	1121	c.1039G>A	c.(1039-1041)Gga>Aga	p.G347R	NFIA_uc001czy.3_Missense_Mutation_p.G294R|NFIA_uc001czw.3_Missense_Mutation_p.G302R|NFIA_uc001czv.3_Missense_Mutation_p.G302R	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	302					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						GCGCTCCCCAGGAAGTGGCAG	0.522000														73			21		0	0	0.002299	0	0
SPTBN4	57731	broad.mit.edu	37	19	40978566	40978566	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:40978566G>A	uc002ony.3	+	1	124	c.38G>A	c.(37-39)gGc>gAc	p.G13D	SPTBN4_uc002onx.3_Missense_Mutation_p.G13D|SPTBN4_uc002onz.3_Missense_Mutation_p.G13D	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	13	Actin-binding.				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)			AACATGGAGGGCCTGCCTGCT	0.637000														14			10		0	0	0.002450	0	0
KIAA1279	26128	broad.mit.edu	37	10	70775992	70775992	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:70775992C>T	uc001joy.3	+	6	1798	c.1686C>T	c.(1684-1686)ccC>ccT	p.P562P		NM_015634	NP_056449	Q96EK5	KBP_HUMAN	Homo sapiens KIAA1279 (KIAA1279), nuclear gene encoding mitochondrial protein, mRNA.	562					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding	p.D561D(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						CTGCAGATCCCAAGAAAGAGC	0.423000														30			7		0	0	0.001984	0	0
ZNF516	9658	broad.mit.edu	37	18	74091392	74091392	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:74091392C>T	uc021ulp.1	-	3	2996	c.2678G>A	c.(2677-2679)gGc>gAc	p.G893D	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	893					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TGGCTCCTGGCCGTGACAAGG	0.682000														40			29		0	0	0.008361	0	0
LILRA1	11024	broad.mit.edu	37	19	55086930	55086930	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:55086930C>T	uc010ern.3	+	5	1332	c.863C>T	c.(862-864)tCc>tTc	p.S288F	LILRA1_uc002qgg.4_Missense_Mutation_p.S288F|LILRA1_uc002qgf.3_Missense_Mutation_p.S288F|LILRA1_uc010yfe.1_Missense_Mutation_p.S288F|LILRA1_uc010yff.1_Missense_Mutation_p.S276F|LILRA1_uc010ero.3_Missense_Mutation_p.S276F|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.	290	Ig-like C2-type 3.				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)		GTGAGCCCCTCCCACGGGGGC	0.647000														40			22		0	0	0.010504	0	0
RBM27	54439	broad.mit.edu	37	5	145608560	145608560	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:145608560C>T	uc003lnz.4	+	3	521	c.355C>T	c.(355-357)Cct>Tct	p.P119S	RBM27_uc003lny.2_Missense_Mutation_p.P119S	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	119					mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGAAATATCCTAGTCCCCA	0.413000														45			18		0	0	0.008871	0	0
SLIT3	6586	broad.mit.edu	37	5	168135005	168135005	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:168135005G>A	uc010jjg.3	-	25	3261	c.2841C>T	c.(2839-2841)cgC>cgT	p.R947R	SLIT3_uc003mab.3_Silent_p.R940R	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	940	EGF-like 1.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding	p.Y947H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCAGGCACAGCGGTACAGCT	0.617000														22			8		0	0	0.003080	0	0
LRFN5	145581	broad.mit.edu	37	14	42360456	42360456	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:42360456G>A	uc001wvm.3	+	3	2587	c.1389G>A	c.(1387-1389)atG>atA	p.M463I	LRFN5_uc010ana.3_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	463	Fibronectin type-III.					integral to membrane		p.R462G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CCCTCAGAATGATACCTCCTA	0.363000										HNSCC(30;0.082)				26			8		0	0	0.003080	0	0
DOCK4	9732	broad.mit.edu	37	7	111379197	111379197	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:111379197G>A	uc003vfy.3	-	49	5602	c.5333C>T	c.(5332-5334)cCt>cTt	p.P1778L	DOCK4_uc011kml.2_Missense_Mutation_p.P614L|DOCK4_uc011kmm.2_Missense_Mutation_p.P640L|DOCK4_uc003vfw.3_Missense_Mutation_p.P1183L|DOCK4_uc003vfx.3_Missense_Mutation_p.P1733L|DOCK4_uc003vfv.3_Missense_Mutation_p.P46L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1733	Ser-rich.				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)				TACCTGCGAAGGCTCCACAGG	0.468000														46			27		0	0	0.008361	0	0
ZNF709	163051	broad.mit.edu	37	19	12638052	12638052	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:12638052G>A	uc002mty.3	-	3	1080	c.870C>T	c.(868-870)ttC>ttT	p.F290F	ZNF709_uc002mtx.4_Intron	NM_144976	NP_659413	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 564 (ZNF564), mRNA.	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TGAAAGAAATGAAGGCCTTCC	0.393000														42			15		0	0	0.003163	0	0
RNF144B	255488	broad.mit.edu	37	6	18465261	18465262	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:18465261_18465262GG>AA	uc003ncs.3	+	7	1192_1193	c.875_876GG>AA	c.(874-876)cgg>cAA	p.R292Q		NM_182757	NP_877434	Q7Z419	R144B_HUMAN	Homo sapiens ring finger protein 144B (RNF144B), mRNA.	292					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			AAGTCCTGTCGGGGCAAGAAGA	0.495000														14			15		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179465822	179465822	+	Silent	SNP	C	T	T	rs35647804		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179465822C>T	uc021vsy.1	-	236	48330	c.48105G>A	c.(48103-48105)ccG>ccA	p.P16035P	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.P9730P|TTN_uc021vta.1_Silent_p.P9663P|TTN_uc021vtb.1_Silent_p.P9538P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16962	Ig-like 99.						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)			CATCATTCTTCGGGGGTTTCC	0.458000														51			18		0	0	0.004990	0	0
IDH3G	3421	broad.mit.edu	37	X	153052286	153052286	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:153052286G>A	uc004fip.3	-	9	1080	c.894C>T	c.(892-894)aaC>aaT	p.N298N	IDH3G_uc004fiq.3_Silent_p.N298N|IDH3G_uc004fit.1_Silent_p.N298N|IDH3G_uc004fiu.3_Silent_p.N74N	NM_004135	NP_004126	P51553	IDH3G_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) gamma (IDH3G), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	298					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|NAD binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CATGGCCATAGTTGGCCCCAG	0.572000														20			36		0	0	0.004878	0	0
SMYD1	150572	broad.mit.edu	37	2	88396129	88396129	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:88396129C>T	uc002ssr.3	+	5	799	c.714C>T	c.(712-714)gcC>gcT	p.A238A	SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_5'UTR	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	238	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.R237L(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGCTCCGGGCCCTAGGCAAGA	0.507000														98			20		0	0	0.002299	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140762917	140762917	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140762917C>T	uc003lka.2	+	0	451	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	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_uc003ljz.1_Missense_Mutation_p.R151W	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	151	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGGGGTTCGGTTTCCGTT	0.473000														22			9		0	0	0.004482	0	0
LYN	4067	broad.mit.edu	37	8	56863069	56863069	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:56863069C>T	uc003xsk.4	+	4	618	c.336C>T	c.(334-336)ttC>ttT	p.F112F	LYN_uc003xsl.4_Silent_p.F91F	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	112	SH3.				T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus	Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			AAGAAGGCTTCATCCCCAGCA	0.393000														95			60		0	0	0.003610	0	0
ACAN	176	broad.mit.edu	37	15	89401939	89401939	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:89401939C>T	uc010upo.1	+	11	6497	c.6123C>T	c.(6121-6123)ttC>ttT	p.F2041F	ACAN_uc010upp.1_Silent_p.F2041F|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2041					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTTCTGAGTTCGTGGAGGGTG	0.502000														19			9		0	0	0.008291	0	0
TMEM130	222865	broad.mit.edu	37	7	98452871	98452871	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:98452871G>A	uc003upo.3	-	4	984	c.795C>T	c.(793-795)ttC>ttT	p.F265F	TMEM130_uc011kiq.2_Silent_p.F246F|TMEM130_uc011kir.2_Silent_p.F265F|TMEM130_uc003upn.3_Silent_p.F163F	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	265						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACCTCCCCAGGAAGTTCAAGG	0.572000														46			30		0	0	0.002836	0	0
BDKRB2	624	broad.mit.edu	37	14	96706854	96706854	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:96706854C>T	uc010avm.1	+	2	385	c.189C>T	c.(187-189)ttC>ttT	p.F63F	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Silent_p.F36F|BDKRB2_uc001yfg.2_Silent_p.F63F	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	63					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		AGCCCCCCTTCCTCTGGGTGC	0.592000														102			25		0	0	0.003954	0	0
RAB40AL	282808	broad.mit.edu	37	X	102192851	102192851	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:102192851C>T	uc004ejs.3	+	0	652	c.605C>T	c.(604-606)tCc>tTc	p.S202F		NM_001031834	NP_001027004	P0C0E4	RB40L_HUMAN	Homo sapiens RAB40A, member RAS oncogene family-like (RAB40AL), mRNA.	202	SOCS box.				protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						ACCATCGTGTCCTGCACACCT	0.597000														12			32		0	0	0.002445	0	0
OR5M9	390162	broad.mit.edu	37	11	56230593	56230593	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56230593G>A	uc010rjj.2	-	0	285	c.285C>T	c.(283-285)tgC>tgT	p.C95C	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ACTGCACCAAGCATCCCACAT	0.493000														41			28		0	0	0.002836	0	0
SYCP2L	221711	broad.mit.edu	37	6	10956473	10956473	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:10956473G>A	uc003mzo.3	+	24	2457	c.2161G>A	c.(2161-2163)Gag>Aag	p.E721K	SYCP2L_uc010jow.3_Missense_Mutation_p.E341K	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	721						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AAGAAAATATGAGGTAGTAGT	0.383000														14			4		0	0	0.009096	0	0
ERCC6	2074	broad.mit.edu	37	10	50701288	50701288	+	Silent	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:50701288A>G	uc001jhs.4	-	7	1850	c.1696T>C	c.(1696-1698)Ttg>Ctg	p.L566L	ERCC6_uc010qgr.2_Intron|ERCC6_uc001jhr.4_5'UTR	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	566	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTTGGACCCAACCCCTCAAAC	0.443000								Direct reversal of damage;Nucleotide excision repair (NER)						18			4		0	0	0.000602	0	0
SLC22A8	9376	broad.mit.edu	37	11	62782234	62782234	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:62782234G>A	uc009yon.3	-	1	318	c.197C>T	c.(196-198)cCa>cTa	p.P66L	SLC22A8_uc009yom.3_Intron|SLC22A8_uc001nwo.3_Missense_Mutation_p.P66L|SLC22A8_uc010rmm.2_Intron|SLC22A8_uc001nwp.2_Missense_Mutation_p.P66L	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	66					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CTTCCCATTTGGGCCCATGGG	0.632000														113			80		0	0	0.003610	0	0
DYDC2	84332	broad.mit.edu	37	10	82126466	82126466	+	Missense_Mutation	SNP	C	T	T	rs139612342		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:82126466C>T	uc001kca.1	+	4	673	c.293C>T	c.(292-294)tCc>tTc	p.S98F	DYDC2_uc001kbz.1_Non-coding_Transcript|DYDC2_uc001kcb.1_Missense_Mutation_p.S98F	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	Homo sapiens DPY30 domain containing 2 (DYDC2), mRNA.	98							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			GAAACTGTTTCCACGAAGAAG	0.413000														68			21		0	0	0.001882	0	0
ASTN1	460	broad.mit.edu	37	1	176926927	176926927	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:176926927C>T	uc001glc.3	-	10	1986	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	ASTN1_uc001glb.1_Missense_Mutation_p.E592K|ASTN1_uc001gld.1_Missense_Mutation_p.E592K|ASTN1_uc009wwx.1_Missense_Mutation_p.E592K	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	600					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						AAGAGAACCTCCAGGCTGTCG	0.532000														15			10		0	0	0.006214	0	0
PDGFRB	5159	broad.mit.edu	37	5	149506146	149506146	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:149506146G>A	uc003lro.3	-	10	2080	c.1611C>T	c.(1609-1611)gcC>gcT	p.A537A	PDGFRB_uc010jhd.3_Silent_p.A376A	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	537					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGGCCAGGATGGCTGAGATCA	0.582000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									33			12		0	0	0.001368	0	0
NUF2	83540	broad.mit.edu	37	1	163295907	163295907	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:163295907C>T	uc001gcq.1	+	1	366	c.66C>T	c.(64-66)atC>atT	p.I22I	NUF2_uc001gcr.1_Silent_p.I22I	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA.	22	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GCAATAAGATCTTAACAGGAG	0.363000														55			20		0	0	0.008871	0	0
UBC	7316	broad.mit.edu	37	12	125396452	125396452	+	Silent	SNP	G	A	A	rs71458872		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:125396452G>A	uc001ugs.4	-	1	2324	c.1866C>T	c.(1864-1866)acC>acT	p.T622T	UBC_uc001ugr.3_Non-coding_Transcript|UBC_uc001ugt.3_Silent_p.T470T|UBC_uc001ugu.1_Silent_p.T546T|UBC_uc001ugv.3_Silent_p.T90T|UBC_uc021rge.1_Silent_p.T622T	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	622	Ubiquitin-like 9.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CCACCTCGAGGGTGATGGTCT	0.527000														112			8		0	0	0.008291	0	0
SLIT3	6586	broad.mit.edu	37	5	168151456	168151456	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:168151456G>A	uc010jjg.3	-	20	2724	c.2304C>T	c.(2302-2304)ccC>ccT	p.P768P	SLIT3_uc003mab.3_Silent_p.P768P	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	768					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAGCTCTCTGGGCACGGCTG	0.512000														31			14		0	0	0.004990	0	0
COL4A6	1288	broad.mit.edu	37	X	107438346	107438346	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:107438346C>T	uc004enw.4	-	14	1020	c.917G>A	c.(916-918)gGt>gAt	p.G306D	COL4A6_uc004env.4_Missense_Mutation_p.G305D|COL4A6_uc011msn.2_Missense_Mutation_p.G305D|COL4A6_uc010npk.3_Missense_Mutation_p.G305D	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	306	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCTTCTGAACCCATGGGACC	0.403000									Alport syndrome with Diffuse Leiomyomatosis					20			39		0	0	0.003610	0	0
AV2S1A1	0	broad.mit.edu	37	14	22356669	22356669	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:22356669C>T	uc021rph.1	+	1	432	c.330C>T	c.(328-330)ctC>ctT	p.L110L	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Silent_p.L110L|AV2S1A1_uc021rpi.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 117-2.																		CCACCTACCTCTGTGCCGTGA	0.522000														109			22		0	0	0.003330	0	0
XKR3	150165	broad.mit.edu	37	22	17288676	17288676	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:17288676C>T	uc002zlv.3	-	1	386	c.288G>A	c.(286-288)aaG>aaA	p.K96K	XKR3_uc011agf.2_Silent_p.K96K	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	96						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTAATGCAGCCTTATTTCTCC	0.348000														48			12		0	0	0.002450	0	0
LCE2C	353140	broad.mit.edu	37	1	152648564	152648565	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152648564_152648565CC>TT	uc021ozc.1	+	0	73_74	c.73_74CC>TT	c.(73-75)cca>TTa	p.P25L	LCE2C_uc001fah.3_Missense_Mutation_p.P25L	NM_178429	NP_848516	Q5TA81	LCE2C_HUMAN	Homo sapiens late cornified envelope 2C (LCE2C), mRNA.	25	Cys-rich.				keratinization			p.P25T(2)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			cccaaaatgtccacctaagtgt	0.574000														62			26		0	0	0.004672	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013041	142013041	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142013041C>T	uc003vxg.3	+	0	35	c.6C>T	c.(4-6)ggC>ggT	p.G2G	TRBV2_uc011kro.1_Intron|TRBV4-1_uc022ana.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CTAGCATGGGCTGCAGGCTGC	0.582000														44			18		0	0	0.010504	0	0
PEAR1	375033	broad.mit.edu	37	1	156878059	156878059	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:156878059C>T	uc001fqj.1	+	8	1158	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C	PEAR1_uc009wsl.1_Missense_Mutation_p.R149C|PEAR1_uc001fqk.1_5'UTR	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	348						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGCACGGATCGCCTCTGCCC	0.692000														6			10		0	0	0.008291	0	0
ZFAND2A	90637	broad.mit.edu	37	7	1197838	1197839	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:1197838_1197839GG>AA	uc003skd.4	-	1	311_312	c.10_11CC>TT	c.(10-12)cct>TTt	p.P4F	ZFAND2A_uc003skc.3_Missense_Mutation_p.P4F|ZFAND2A_uc021zyp.1_5'Flank|AK090593_uc003skf.1_5'Flank			Q8N6M9	ZFN2A_HUMAN	Homo sapiens zinc finger, AN1-type domain 2A (ZFAND2A), mRNA.	4						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		CCCCAAATCAGGAAACTCCATT	0.431000														202			33		0	0	0.004672	0	0
OR51B6	390058	broad.mit.edu	37	11	5373574	5373574	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5373574C>T	uc010qzb.2	+	0	837	c.837C>T	c.(835-837)ttC>ttT	p.F279F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATCCACTTCCTTTTCCCAC	0.393000														60			20		0	0	0.010504	0	0
EBF1	1879	broad.mit.edu	37	5	158204487	158204487	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:158204487C>T	uc010jip.3	-	9	1272	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	EBF1_uc011ddw.2_Missense_Mutation_p.E192K|EBF1_uc011ddx.2_Missense_Mutation_p.E325K|EBF1_uc003lxl.4_Missense_Mutation_p.E293K	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	324	IPT/TIG.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTGTGACTTCCACAACACCA	0.483000			T	HMGA2	lipoma									52			14		0	0	0.003163	0	0
ST18	9705	broad.mit.edu	37	8	53084550	53084550	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:53084550C>T	uc003xqz.2	-	4	1027	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.E256K|ST18_uc011lds.1_Missense_Mutation_p.E196K|ST18_uc003xra.2_Missense_Mutation_p.E291K|ST18_uc003xrb.2_Missense_Mutation_p.E291K	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	291						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTACCCTCTTCCGTCATTACT	0.537000														46			11		0	0	0.008291	0	0
ITGB3	3690	broad.mit.edu	37	17	45376679	45376679	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:45376679G>A	uc002ilj.3	+	10	1716	c.1696G>A	c.(1696-1698)Ggc>Agc	p.G566S	ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	566	Cysteine-rich tandem repeats.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	TTCAGGCCATGGCCAGTGCAG	0.607000														21			35		0	0	0.003755	0	0
PKD1L1	168507	broad.mit.edu	37	7	47879094	47879094	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:47879094G>A	uc003tny.2	-	35	5753	c.5719C>T	c.(5719-5721)Cgc>Tgc	p.R1907C		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1907	PLAT.				cell-cell adhesion	integral to membrane		p.R1907H(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CGCTCCACGCGACCATCATGC	0.657000														27			4		0	0	0.001168	0	0
USP43	124739	broad.mit.edu	37	17	9586206	9586206	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:9586206C>T	uc010cod.3	+	6	1172	c.1172C>T	c.(1171-1173)tCt>tTt	p.S391F	USP43_uc002gma.4_Missense_Mutation_p.S80F|USP43_uc010vva.2_Missense_Mutation_p.S391F|USP43_uc010coe.3_Missense_Mutation_p.S188F	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	391					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TTCTCCCTCTCTCTCCACAGT	0.527000														17			31		0	0	0.009535	0	0
BAI3	577	broad.mit.edu	37	6	70065752	70065752	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:70065752G>A	uc010kak.3	+	27	3871	c.3595_splice	c.e27+1	p.V1199_splice	BAI3_uc003pev.4_Splice_Site_p.V1199_splice|BAI3_uc011dxx.2_Splice_Site_p.V405_splice	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1199					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V1199L(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTGTCGATCAGGTAAGAATAT	0.289000														100			45		0	0	0.003610	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688857	26688857	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:26688857C>T	uc003acb.3	+	1	776	c.580C>T	c.(580-582)Cct>Tct	p.P194S	SEZ6L_uc003acd.3_Missense_Mutation_p.P194S|SEZ6L_uc011akd.2_Missense_Mutation_p.P194S|SEZ6L_uc003ace.3_Missense_Mutation_p.P194S|SEZ6L_uc011akc.2_Missense_Mutation_p.P194S|SEZ6L_uc003acc.3_Missense_Mutation_p.P194S|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	194						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GAGTGCGGTCCCTACAACACC	0.667000														70			19		0	0	0.007413	0	0
GPR132	29933	broad.mit.edu	37	14	105518133	105518133	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:105518133G>A	uc001yqd.3	-	3	1240	c.341C>T	c.(340-342)gCc>gTc	p.A114V	GPR132_uc001yqc.3_5'UTR|GPR132_uc001yqe.3_Missense_Mutation_p.A105V	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.	114					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CACCTTGCAGGCCAGCAGGCC	0.607000														94			45		0	0	0.003610	0	0
SEC16B	89866	broad.mit.edu	37	1	177930758	177930758	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:177930758G>A	uc001glj.1	-	10	1620	c.754C>T	c.(754-756)Cca>Tca	p.P252S	SEC16B_uc001glk.1_5'UTR|SEC16B_uc001glh.1_5'Flank|SEC16B_uc001gli.1_Missense_Mutation_p.P252S|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001gll.4_Missense_Mutation_p.P252S	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	252					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GCTGAAGCTGGGGGATCATCC	0.537000														33			10		0	0	0.008291	0	0
ZNF536	9745	broad.mit.edu	37	19	31039066	31039066	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:31039066G>A	uc002nsu.1	+	3	2678	c.2540G>A	c.(2539-2541)gGa>gAa	p.G847E	ZNF536_uc010edd.1_Missense_Mutation_p.G847E	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	847					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P846H(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGTCTCCCTGGAATCGACTTC	0.577000														56			23		0	0	0.004656	0	0
EYA4	2070	broad.mit.edu	37	6	133802624	133802624	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:133802624C>T	uc011ecs.2	+	11	1328	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S	EYA4_uc011ecq.2_Missense_Mutation_p.P278S|EYA4_uc011ecr.2_Missense_Mutation_p.P284S|EYA4_uc003qec.4_Missense_Mutation_p.P332S|EYA4_uc003qed.4_Missense_Mutation_p.P332S|EYA4_uc003qee.4_Missense_Mutation_p.P309S|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	332					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CATGCAGAGTCCCTCCACACC	0.423000														74			43		0	0	0.003610	0	0
PTK6	5753	broad.mit.edu	37	20	62163970	62163970	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:62163970G>A	uc002yfg.3	-	4	781	c.741C>T	c.(739-741)atC>atT	p.I247I	PTK6_uc011aay.2_Silent_p.I146I|PTK6_uc011aaz.1_Silent_p.I9I	NM_005975	NP_005966	Q13882	PTK6_HUMAN	Homo sapiens PTK6 protein tyrosine kinase 6 (PTK6), transcript variant 1, mRNA.	247	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			ACAGCGCCAGGATGTGTTTGT	0.647000														40			22		0	0	0.002780	0	0
SLC6A18	348932	broad.mit.edu	37	5	1239564	1239564	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:1239564G>A	uc003jby.2	+	6	856	c.733_splice	c.e6-1	p.M245_splice		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	245					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACTCATTCCAGATGCACATTC	0.567000														47			13		0	0	0.002450	0	0
PCDH18	54510	broad.mit.edu	37	4	138452467	138452467	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:138452467G>A	uc003ihe.4	-	0	1163	c.776C>T	c.(775-777)tCc>tTc	p.S259F	PCDH18_uc003ihf.4_Missense_Mutation_p.S252F|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.S39F|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	259	Cadherin 3.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCCAACCGGGGAGTTTTCTAA	0.428000														27			21		0	0	0.010504	0	0
PODXL2	50512	broad.mit.edu	37	3	127358261	127358261	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:127358261C>T	uc003ejq.2	+	1	268	c.244C>T	c.(244-246)Ccc>Tcc	p.P82S		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	Homo sapiens podocalyxin-like 2 (PODXL2), mRNA.	82					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CTCAGGCTTCCCCAGCGAAGA	0.602000														20			7		0	0	0.003080	0	0
TTC39C	125488	broad.mit.edu	37	18	21698134	21698134	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:21698134C>T	uc002kuw.3	+	7	1576	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F	TTC39C_uc002kuu.3_Missense_Mutation_p.S314F	NM_001135993	NP_694943	Q8N584	TT39C_HUMAN	Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA.	375							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						GCATTTGATTCCTTTGAGAGG	0.453000														54			7		0	0	0.001984	0	0
CYP7B1	9420	broad.mit.edu	37	8	65517309	65517309	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:65517309C>T	uc003xvj.2	-	4	1367	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	388					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GTCTCCCTTTCGCACACAGTA	0.453000														51			25		0	0	0.007291	0	0
BMP6	654	broad.mit.edu	37	6	7880319	7880319	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:7880319G>A	uc003mxu.4	+	5	1555	c.1377G>A	c.(1375-1377)gcG>gcA	p.A459A		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	459					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	p.H458H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CCAACCACGCGATTGTGCAGA	0.483000														62			14		0	0	0.003163	0	0
EGFR	1956	broad.mit.edu	37	7	55210029	55210029	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:55210029C>T	uc003tqk.3	+	1	385	c.139C>T	c.(139-141)Cat>Tat	p.H47Y	EGFR_uc003tqh.3_Missense_Mutation_p.H47Y|EGFR_uc003tqi.3_Missense_Mutation_p.H47Y|EGFR_uc003tqj.3_Missense_Mutation_p.H47Y|EGFR_uc022adm.1_Missense_Mutation_p.H47Y|EGFR_uc010kzg.2_Missense_Mutation_p.H47Y|EGFR_uc022adn.1_Missense_Mutation_p.H47Y|EGFR_uc011kco.2_5'UTR	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	47					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.D46N(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TTTTGAAGATCATTTTCTCAG	0.398000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				85			16		0	0	0.004007	0	0
GFRA1	2674	broad.mit.edu	37	10	117884979	117884979	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:117884979T>C	uc001lcj.3	-	5	1221	c.523A>G	c.(523-525)Atc>Gtc	p.I175V	GFRA1_uc001lci.3_Missense_Mutation_p.I170V|GFRA1_uc009xyr.3_Missense_Mutation_p.I170V	NM_005264	NP_005255	P56159	GFRA1_HUMAN	Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.	175					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CACGGGGTGATGTACGCCGAC	0.582000														16			6		0	0	0.001168	0	0
BDH1	622	broad.mit.edu	37	3	197238844	197238844	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:197238844C>T	uc003fxr.3	-	7	1356	c.954G>A	c.(952-954)atG>atA	p.M318I	BDH1_uc003fxs.3_Missense_Mutation_p.M318I|BDH1_uc003fxu.3_Missense_Mutation_p.M318I	NM_203314	NP_976060	Q02338	BDH_HUMAN	Homo sapiens 3-hydroxybutyrate dehydrogenase, type 1 (BDH1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	318					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	AGTAGTAGTCCATGGGGTGGT	0.592000														90			14		0	0	0.001855	0	0
TGM4	7047	broad.mit.edu	37	3	44945376	44945376	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:44945376G>A	uc003coc.4	+	9	1045	c.972_splice	c.e9-1	p.W324_splice		NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	324					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TTTGCGGCAGGAATTTCCATG	0.597000														97			52		0	0	0.003610	0	0
SNAP91	9892	broad.mit.edu	37	6	84311040	84311040	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:84311040G>A	uc021zcf.1	-	14	1304	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	SNAP91_uc011dzd.2_5'UTR|SNAP91_uc003pka.3_Missense_Mutation_p.S423F|SNAP91_uc011dze.2_Missense_Mutation_p.S423F|SNAP91_uc003pkc.3_Missense_Mutation_p.S423F|SNAP91_uc003pkd.3_Intron|SNAP91_uc003pkb.3_Missense_Mutation_p.S388F	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	425	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TGTAGTAGTGGAGGCAGAAGC	0.448000														10			12		0	0	0.000978	0	0
SLC6A14	11254	broad.mit.edu	37	X	115589994	115589994	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:115589994G>A	uc004eqi.3	+	13	1933	c.1802G>A	c.(1801-1803)aGa>aAa	p.R601K		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	601					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	AGTTGCTGCAGACCAGCTTCT	0.378000														16			36		0	0	0.005524	0	0
NBPF1	55672	broad.mit.edu	37	1	16892227	16892227	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:16892227G>A	uc009vos.1	-	26	3853	c.2965C>T	c.(2965-2967)Cct>Tct	p.P989S	AB1_uc001ayw.3_5'Flank	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	989	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAACTGGAAGGAGTTGAATAA	0.473000														828			31		0	0	0.003954	0	0
RNF24	11237	broad.mit.edu	37	20	3915673	3915673	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:3915673C>T	uc002wkj.2	-	4	416	c.276G>A	c.(274-276)ggG>ggA	p.G92G	RNF24_uc002wkh.2_Silent_p.G92G|RNF24_uc002wki.2_Silent_p.G113G	NM_001134337	NP_009150	Q9Y225	RNF24_HUMAN	Homo sapiens ring finger protein 24 (RNF24), transcript variant 2, mRNA.	92						Golgi membrane|integral to membrane	zinc ion binding			large_intestine(1)|upper_aerodigestive_tract(1)	2						ATGGGCAAATCCCCAACTCAT	0.463000														45			7		0	0	0.004482	0	0
SNORD115-11	100033448	broad.mit.edu	37	15	25494426	25494426	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:25494426C>T	uc001zal.1	+	1		c.82_splice	c.e1+1		SNRPN_uc001zae.3_Intron|SNORD115-44_uc001zam.1_5'Flank					Homo sapiens small nucleolar RNA, C/D box 115-11 (SNORD115-11), small nucleolar RNA.																		CGCTGAGGCCCAGGCTAGGTG	0.493000														126			56		0	0	0.003610	0	0
SDSL	113675	broad.mit.edu	37	12	113865868	113865868	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:113865868C>T	uc001tvi.3	+	2	288	c.81C>T	c.(79-81)tcC>tcT	p.S27S	SDSL_uc009zwh.3_Silent_p.S27S	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN	Homo sapiens serine dehydratase-like (SDSL), mRNA.	27					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	GGGCGCTGTCCCAGGTGGCGG	0.607000														15			10		0	0	0.006214	0	0
ZAN	7455	broad.mit.edu	37	7	100391855	100391855	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100391855G>A	uc003uwj.3	+	44	8262	c.8097G>A	c.(8095-8097)ggG>ggA	p.G2699G	ZAN_uc003uwk.3_Intron|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.G648G	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2700	VWFC 5.				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)			GCACCCTGGGGAACCACACCC	0.642000														72			19		0	0	0.002780	0	0
FYN	2534	broad.mit.edu	37	6	112025283	112025283	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:112025283G>A	uc003pvj.3	-	5	806	c.466C>T	c.(466-468)Cga>Tga	p.R156*	FYN_uc003pvi.3_Nonsense_Mutation_p.R156*|FYN_uc003pvk.3_Nonsense_Mutation_p.R156*|FYN_uc003pvh.3_Nonsense_Mutation_p.R156*|FYN_uc010kdy.1_5'Flank	NM_002037	NP_002028	P06241	FYN_HUMAN	Homo sapiens FYN oncogene related to SRC, FGR, YES (FYN), transcript variant 1, mRNA.	156	SH2.				T cell costimulation|T cell receptor signaling pathway|axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	GCATCTTTTCGGCCAAGTTTT	0.383000														47			18		0	0	0.008871	0	0
HLA-DPB1	3115	broad.mit.edu	37	6	33052869	33052869	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:33052869C>T	uc003ocu.2	+	2	623	c.507C>T	c.(505-507)gtC>gtT	p.V169V	HLA-DPB1_uc011dqo.2_Non-coding_Transcript|HLA-DPB1_uc011dqq.1_Silent_p.V65V	NM_002121	NP_002112	P04440	DPB1_HUMAN	Homo sapiens major histocompatibility complex, class II, DP beta 1 (HLA-DPB1), mRNA.	169	Beta-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CAGCTGGGGTCGTGTCCACCA	0.557000														51			28		0	0	0.002445	0	0
WFDC8	90199	broad.mit.edu	37	20	44187548	44187548	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:44187548C>T	uc002xow.3	-	2	299	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	WFDC8_uc002xox.3_Missense_Mutation_p.E74K	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	74	WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TTCTGGTATTCCTTGCAGTCA	0.478000														83			28		0	0	0.009535	0	0
CSMD2	114784	broad.mit.edu	37	1	34401488	34401488	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:34401488G>A	uc001bxm.1	-	3	762	c.585C>T	c.(583-585)ttC>ttT	p.F195F	CSMD2_uc001bxn.1_Silent_p.F155F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	155	Sushi 1.					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)				CACCGAGGTTGAAGGTTGAAC	0.602000														78			37		0	0	0.009718	0	0
NRG1	3084	broad.mit.edu	37	8	32472036	32472036	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:32472036C>T	uc003xiv.2	+	3	922	c.405C>T	c.(403-405)atC>atT	p.I135I	NRG1_uc022ats.1_Intron|NRG1_uc003xip.3_Intron|NRG1_uc003xir.3_Silent_p.I135I|NRG1_uc010lvl.3_Silent_p.I135I|NRG1_uc010lvm.3_Intron|NRG1_uc010lvn.3_Intron|NRG1_uc003xis.3_Silent_p.I135I|NRG1_uc011lbf.1_Silent_p.I135I|NRG1_uc010lvo.2_Silent_p.I135I|NRG1_uc003xiu.2_Silent_p.I135I|NRG1_uc003xiw.2_Silent_p.I135I|NRG1_uc003xit.2_Silent_p.I135I|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_Intron|NRG1_uc010lvp.2_Silent_p.I101I|NRG1_uc010lvq.2_Intron|NRG1_uc003xix.3_Silent_p.I25I	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	135					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TTTCAGAGATCATCACTGGTA	0.418000														62			7		0	0	0.004482	0	0
GLB1L2	89944	broad.mit.edu	37	11	134226237	134226237	+	Missense_Mutation	SNP	G	A	A	rs146193618		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:134226237G>A	uc001qhp.3	+	5	789	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	201					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GGTGGAGAATGAATATGGTTC	0.478000														72			43		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179425679	179425679	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179425679C>T	uc021vsy.1	-	274	77701	c.77476G>A	c.(77476-77478)Gat>Aat	p.D25826N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D19521N|TTN_uc021vta.1_Missense_Mutation_p.D19454N|TTN_uc021vtb.1_Missense_Mutation_p.D19329N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26753							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)			TCTATACCATCCTTGGCCCAG	0.418000														63			24		0	0	0.002780	0	0
ABCB1	5243	broad.mit.edu	37	7	87179839	87179839	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:87179839C>T	uc003uiz.2	-	11	1662	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	ABCB1_uc011khc.2_Missense_Mutation_p.G326E	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	390					G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTCCAAATTTCCCTTAATATT	0.313000														47			24		0	0	0.003954	0	0
CYFIP2	26999	broad.mit.edu	37	5	156787375	156787375	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:156787375C>T	uc021ygm.1	+	24	3038	c.2900C>T	c.(2899-2901)tCc>tTc	p.S967F	CYFIP2_uc011ddn.2_Missense_Mutation_p.S942F|CYFIP2_uc011ddo.2_Missense_Mutation_p.S772F|CYFIP2_uc021ygn.1_Missense_Mutation_p.S967F|CYFIP2_uc021ygo.1_Missense_Mutation_p.S967F|CYFIP2_uc003lwt.3_Missense_Mutation_p.S871F|CYFIP2_uc011ddp.2_Missense_Mutation_p.S702F	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	993					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	p.Y966N(1)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGTATGGCTCCCCAGGTTGG	0.517000														136			47		0	0	0.003610	0	0
TARSL2	123283	broad.mit.edu	37	15	102242448	102242448	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:102242448G>A	uc002bxm.3	-	8	1270	c.1215C>T	c.(1213-1215)atC>atT	p.I405I	TARSL2_uc002bxl.3_5'UTR|TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	405					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)			ATACCTTCCCGATCTTCCTGT	0.393000														52			27		0	0	0.008361	0	0
ZNF833P	401898	broad.mit.edu	37	19	11762578	11762578	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:11762578C>T	uc002msl.4	+	5		c.590C>T								Homo sapiens zinc finger protein 833, pseudogene (ZNF833P), non-coding RNA.											endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						GGGGTAAAACCATGTGAAAGC	0.443000														19			3		0	0	0.009096	0	0
GRIN2B	2904	broad.mit.edu	37	12	13715851	13715851	+	Missense_Mutation	SNP	G	A	A	rs143379788		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:13715851G>A	uc001rbt.2	-	12	4500	c.4321C>T	c.(4321-4323)Cgt>Tgt	p.R1441C		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1441					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTCTGGAAACGGGCTGGCACG	0.607000														17			32		0	0	0.002836	0	0
OR5H1	26341	broad.mit.edu	37	3	97851841	97851841	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:97851841G>A	uc011bgt.2	+	0	300	c.300G>A	c.(298-300)caG>caA	p.Q100Q		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GCAAGATACAGTTTTTTTCGT	0.393000														109			36		0	0	0.005524	0	0
OR6B1	135946	broad.mit.edu	37	7	143701353	143701353	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:143701353G>A	uc003wdt.1	+	0	264	c.264G>A	c.(262-264)gtG>gtA	p.V88V		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TTTGGTCTGTGAACAACAGCA	0.468000														88			19		0	0	0.010504	0	0
POM121L12	285877	broad.mit.edu	37	7	53103598	53103598	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:53103598C>T	uc003tpz.3	+	0	250	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	78										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCACCTCATCGAGGTGCGGC	0.716000														30			15		0	0	0.006122	0	0
OR5I1	10798	broad.mit.edu	37	11	55703403	55703403	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55703403G>A	uc010ris.2	-	0	474	c.474C>T	c.(472-474)tcC>tcT	p.S158S		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGTGAACCAGGGAACTCATGT	0.413000														51			7		0	0	0.003080	0	0
TPSB2	64499	broad.mit.edu	37	16	1279611	1279611	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:1279611G>A	uc002cky.3	-	2	212	c.189C>T	c.(187-189)ctC>ctT	p.L63L	TPSB2_uc010brk.1_Non-coding_Transcript|TPSB2_uc002ckx.3_5'UTR	NM_024164	NP_077078	P20231	TRYB2_HUMAN	Homo sapiens tryptase beta 2 (gene/pseudogene) (TPSB2), mRNA.	63	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				GGGGGTGGATGAGGGAGCCCC	0.687000														33			6		0	0	0.001984	0	0
PPFIA2	8499	broad.mit.edu	37	12	81678083	81678083	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:81678083C>T	uc001szo.2	-	25	3087	c.2926_splice	c.e25-1	p.P976_splice	PPFIA2_uc010sug.2_Splice_Site|PPFIA2_uc021rbg.1_Intron|PPFIA2_uc021rbh.1_Splice_Site_p.P877_splice|PPFIA2_uc021rbi.1_Splice_Site_p.P976_splice|PPFIA2_uc021rbj.1_Intron|PPFIA2_uc021rbk.1_Splice_Site_p.P961_splice|PPFIA2_uc021rbl.1_Splice_Site_p.P976_splice|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Intron|PPFIA2_uc021rbf.1_Intron	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.	900										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						TGCCTGAAGGCTAGTGAGGAG	0.473000														7			9		0	0	0.008291	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962340	73962340	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:73962340G>A	uc004eby.3	-	2	2669	c.2052C>T	c.(2050-2052)agC>agT	p.S684S		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	684					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CATTTGCACAGCTAGGAGCAC	0.448000														5			17		0	0	0.004007	0	0
OR1L3	26735	broad.mit.edu	37	9	125437963	125437963	+	Silent	SNP	G	A	A	rs141603415		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:125437963G>A	uc011lzb.2	+	0	555	c.555G>A	c.(553-555)ctG>ctA	p.L185L		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L185L(2)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						ACCCTGTGCTGAAACTGTCCT	0.448000														95			28		0	0	0.006320	0	0
CPB1	1360	broad.mit.edu	37	3	148552288	148552288	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:148552288G>A	uc003ewl.3	+	2	174	c.151G>A	c.(151-153)Gac>Aac	p.D51N		NM_001871	NP_001862	P15086	CBPB1_HUMAN	Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.	51					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TATTCAGATTGACTTCTGGAA	0.363000														17			9		0	0	0.000978	0	0
IL1R2	7850	broad.mit.edu	37	2	102625058	102625058	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:102625058G>A	uc002tbm.3	+	1	250	c.21G>A	c.(19-21)ttG>ttA	p.L7L	IL1R2_uc002tbn.3_Silent_p.L7L|IL1R2_uc002tbo.1_Silent_p.L7L	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	7					immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	p.V6L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TGTACGTGTTGGTAATGGGAG	0.542000														139			41		0	0	0.003610	0	0
ATP6V1H	51606	broad.mit.edu	37	8	54714393	54714393	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:54714393G>A	uc003xrl.3	-	7	795	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C	ATP6V1H_uc003xrk.3_Missense_Mutation_p.R175C|ATP6V1H_uc003xrm.3_Missense_Mutation_p.R215C|ATP6V1H_uc003xrn.3_Missense_Mutation_p.R197C|ATP6V1H_uc011ldv.2_Missense_Mutation_p.R135C|ATP6V1H_uc010lyd.3_Missense_Mutation_p.R151C	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H (ATP6V1H), transcript variant 3, mRNA.	215					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	p.R197C(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			CAAGCAAAGCGGTACTCATTG	0.448000														19			19		0	0	0.001882	0	0
NRP2	8828	broad.mit.edu	37	2	206580992	206580992	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:206580992C>T	uc002vaw.3	+	2	1118	c.327C>T	c.(325-327)gcC>gcT	p.A109A	NRP2_uc002vat.3_Silent_p.A109A|NRP2_uc002vau.3_Silent_p.A109A|NRP2_uc002vav.3_Silent_p.A109A|NRP2_uc002vax.3_Silent_p.A109A|NRP2_uc002vay.3_Silent_p.A109A|NRP2_uc010fud.3_Silent_p.A109A	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	109	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGAACATCGCCCCGCCCACCA	0.587000														55			39		0	0	0.006230	0	0
PCSK2	5126	broad.mit.edu	37	20	17434578	17434578	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:17434578G>A	uc002wpm.3	+	8	1431	c.1077G>A	c.(1075-1077)agG>agA	p.R359R	PCSK2_uc002wpl.3_Silent_p.R340R|PCSK2_uc010zrm.2_Silent_p.R324R	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	359	Catalytic.				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)	GCAACGGGAGGAAAAGGAACC	0.592000														21			8		0	0	0.004482	0	0
ZFP161	7541	broad.mit.edu	37	18	5291963	5291963	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:5291963G>A	uc002kmq.3	-	3	406	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	ZFP161_uc002kmr.3_Missense_Mutation_p.R82C|ZFP161_uc010dkp.3_Missense_Mutation_p.R82C|ZFP161_uc021ugn.1_Missense_Mutation_p.R82C	NM_001243702	NP_001230631	O43829	ZF161_HUMAN	Homo sapiens zinc finger protein 161 homolog (mouse) (ZFP161), transcript variant 3, mRNA.	82	BTB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R82H(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)	22						ATATCAGAACGAAGAAAATCT	0.373000														32			8		0	0	0.003080	0	0
SEC24C	9632	broad.mit.edu	37	10	75529378	75529378	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:75529378C>T	uc001juw.3	+	19	2749	c.2569C>T	c.(2569-2571)Cgg>Tgg	p.R857W	SEC24C_uc001jux.3_Missense_Mutation_p.R857W|SEC24C_uc010qko.2_Missense_Mutation_p.R738W|SEC24C_uc010qkp.2_Missense_Mutation_p.R105W|SEC24C_uc010qkq.2_Missense_Mutation_p.R105W|FUT11_uc001juy.1_5'Flank|FUT11_uc001juz.1_5'Flank|FUT11_uc001jva.3_5'Flank	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	857					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TCCAGCATATCGGGGAGTCCT	0.542000														29			14		0	0	0.004007	0	0
FLG2	388698	broad.mit.edu	37	1	152327908	152327908	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152327908T>A	uc001ezw.4	-	2	2427	c.2354A>T	c.(2353-2355)cAa>cTa	p.Q785L	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	785	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCCATGTTGGCCATAGCC	0.507000														209			78		0	0	0.003610	0	0
VPS13A	23230	broad.mit.edu	37	9	79853224	79853224	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:79853224C>T	uc004akr.3	+	18	2082	c.1822C>T	c.(1822-1824)Cca>Tca	p.P608S	VPS13A_uc004akp.4_Missense_Mutation_p.P608S|VPS13A_uc004akq.4_Missense_Mutation_p.P608S|VPS13A_uc004aks.3_Missense_Mutation_p.P608S	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	608					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTTCAGACCTCCAAAAGAGGT	0.338000														33			13		0	0	0.004990	0	0
CDK18	5129	broad.mit.edu	37	1	205494284	205494285	+	Nonsense_Mutation	DNP	GA	AT	AT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:205494284_205494285GA>AT	uc001hcr.3	+	4	769_770	c.507_508GA>AT	c.(505-510)gggaaa>ggATaa	p.K170*	CDK18_uc010pri.2_Missense_Mutation_p.E160I|CDK18_uc001hcp.3_Nonsense_Mutation_p.K140*|CDK18_uc001hcq.3_Nonsense_Mutation_p.K140*|CDK18_uc010prj.2_Nonsense_Mutation_p.K51*|CDK18_uc001hcs.3_Nonsense_Mutation_p.K51*|CDK18_uc009xbm.1_Nonsense_Mutation_p.K51*	NM_212503	NP_997668	Q07002	CDK18_HUMAN	Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA.	138	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TTGGCTTTGGGAAACTGGAAAC	0.545000														27			9		0	0	0.004672	0	0
RANBP2	5903	broad.mit.edu	37	2	109367805	109367805	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:109367805C>T	uc002tem.4	+	9	1485	c.1359C>T	c.(1357-1359)atC>atT	p.I453I		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	453					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TACCTGGAATCCGAAAATGGC	0.383000														144			31		0	0	0.007835	0	0
NEU2	4759	broad.mit.edu	37	2	233898940	233898940	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:233898940C>T	uc010zmn.2	+	1	316	c.316C>T	c.(316-318)Cct>Tct	p.P106S		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	106							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CATTGCCATCCCTGGGCAAGT	0.647000														43			24		0	0	0.003330	0	0
PSD2	84249	broad.mit.edu	37	5	139193879	139193879	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:139193879C>T	uc003leu.1	+	3	1151	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	316	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.H315Y(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGCTCATCGGCTGGCACG	0.647000														15			7		0	0	0.003080	0	0
ODZ2	57451	broad.mit.edu	37	5	167489213	167489213	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:167489213G>A	uc010jjd.3	+	6	1458	c.1458G>A	c.(1456-1458)ggG>ggA	p.G486G	ODZ2_uc003lzq.2_Silent_p.G365G|ODZ2_uc003lzr.4_Silent_p.G254G	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TCTCCCTCGGGAAGGACGCTC	0.443000														43			19		0	0	0.001882	0	0
ANK3	288	broad.mit.edu	37	10	61829254	61829254	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:61829254G>A	uc001jky.3	-	36	11723	c.11385C>T	c.(11383-11385)tcC>tcT	p.S3795S	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3795					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTGTATAGTGGAAGAATCCA	0.363000														51			10		0	0	0.006214	0	0
SDR42E1	93517	broad.mit.edu	37	16	82034450	82034450	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:82034450C>T	uc002fgu.3	-	1	142	c.14G>A	c.(13-15)aGa>aAa	p.R5K		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	5					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CTTTTGAGATCTTTTGGGGTC	0.373000														28			6		0	0	0.003080	0	0
BMP10	27302	broad.mit.edu	37	2	69093240	69093240	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:69093240C>T	uc002sez.1	-	1	957	c.798G>A	c.(796-798)agG>agA	p.R266R		NM_014482	NP_055297	O95393	BMP10_HUMAN	Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA.	266					BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	Z disc|cell surface|extracellular space	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						GTTCCTCCTTCCTCTCCTTGT	0.483000														31			22		0	0	0.010504	0	0
RIMS1	22999	broad.mit.edu	37	6	72967929	72967929	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:72967929C>T	uc003pga.3	+	16	2949	c.2872C>T	c.(2872-2874)Cgc>Tgc	p.R958C	RIMS1_uc011dyb.2_Missense_Mutation_p.R583C|RIMS1_uc003pgc.3_Missense_Mutation_p.R584C|RIMS1_uc010kaq.3_Missense_Mutation_p.R431C|RIMS1_uc011dyc.2_Missense_Mutation_p.R432C|RIMS1_uc010kar.3_Missense_Mutation_p.R351C|RIMS1_uc011dyd.2_Missense_Mutation_p.R417C|RIMS1_uc003pge.3_Missense_Mutation_p.R175C|RIMS1_uc003pgf.3_Missense_Mutation_p.R174C|RIMS1_uc003pgi.3_Missense_Mutation_p.R174C|RIMS1_uc003pgg.3_Missense_Mutation_p.R175C|RIMS1_uc003pgh.3_Missense_Mutation_p.R174C|RIMS1_uc003pgd.3_Missense_Mutation_p.R175C|RIMS1_uc011dye.2_5'UTR|RIMS1_uc011dyf.2_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.R584C|RIMS1_uc010kas.1_Missense_Mutation_p.R417C	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	958					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATCTCCTCATCGCGGCAATGA	0.448000														22			9		0	0	0.004482	0	0
OBSCN	84033	broad.mit.edu	37	1	228529196	228529196	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:228529196G>A	uc009xez.1	+	73	17959	c.17915G>A	c.(17914-17916)tGg>tAg	p.W5972*	OBSCN_uc001hsn.3_Nonsense_Mutation_p.W5972*|OBSCN_uc001hsr.1_Nonsense_Mutation_p.W601*	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5972	PH.				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)				TTCGAGGTGTGGCAGGAGCGG	0.642000														24			15		0	0	0.003163	0	0
RYR1	6261	broad.mit.edu	37	19	38951140	38951140	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:38951140G>A	uc002oit.3	+	19	2616	c.2486G>A	c.(2485-2487)cGa>cAa	p.R829Q	RYR1_uc002oiu.3_Missense_Mutation_p.R829Q	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	829					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AAGGAGTATCGACGGGAGGGG	0.627000														62			50		0	0	0.003610	0	0
KCNAB1	7881	broad.mit.edu	37	3	155838490	155838490	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:155838490G>A	uc003far.2	+	0	154	c.90G>A	c.(88-90)ggG>ggA	p.G30G	KCNAB1_uc011bon.1_Silent_p.G30G	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA.	30						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.P30S(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CTGTAGCAGGGAAAGACAAAT	0.557000														63			9		0	0	0.004482	0	0
SLC28A2	9153	broad.mit.edu	37	15	45561668	45561668	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:45561668C>T	uc001zva.2	+	13	1566	c.1501C>T	c.(1501-1503)Caa>Taa	p.Q501*		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	501					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		GCAACTGTCTCAATACAAGAA	0.433000														27			16		0	0	0.003163	0	0
PLXNA4	91584	broad.mit.edu	37	7	131925887	131925887	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:131925887C>T	uc003vra.4	-	4	1771	c.1542G>A	c.(1540-1542)caG>caA	p.Q514Q		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	514	PSI 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CGCCGCAGCTCTGATACTGAC	0.592000														31			22		0	0	0.003330	0	0
SLIT3	6586	broad.mit.edu	37	5	168123338	168123338	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:168123338C>T	uc010jjg.3	-	27	3482	c.3062G>A	c.(3061-3063)gGg>gAg	p.G1021E	SLIT3_uc003mab.3_Missense_Mutation_p.G1014E	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1014	EGF-like 3.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTGTTGATCCCGTCCACGCA	0.532000														41			20		0	0	0.010504	0	0
GLIS3	169792	broad.mit.edu	37	9	4118013	4118013	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:4118013C>T	uc003zhx.1	-	3	2178	c.1465G>A	c.(1465-1467)Gac>Aac	p.D489N	GLIS3_uc003zic.1_Missense_Mutation_p.D489N|GLIS3_uc003zie.1_Missense_Mutation_p.D489N|GLIS3_uc010mhh.1_Missense_Mutation_p.D364N|GLIS3_uc003zid.1_Missense_Mutation_p.D267N|GLIS3_uc010mhi.1_Missense_Mutation_p.D296N|GLIS3_uc003zif.1_Missense_Mutation_p.D267N|GLIS3_uc003zih.1_Missense_Mutation_p.D267N|GLIS3_uc003zig.1_Missense_Mutation_p.D333N|GLIS3_uc003zhw.1_Missense_Mutation_p.D334N|GLIS3_uc003zhy.1_Missense_Mutation_p.D267N|GLIS3_uc003zhz.1_Missense_Mutation_p.D267N|GLIS3_uc003zib.1_Missense_Mutation_p.D333N|GLIS3_uc010mhg.1_Missense_Mutation_p.D267N	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	334					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TCCCCGTCGTCGTCCAGGGTG	0.701000														30			27		0	0	0.006320	0	0
PLSCR5	389158	broad.mit.edu	37	3	146307599	146307599	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:146307599C>T	uc010hvc.3	-	5	1622	c.618G>A	c.(616-618)gtG>gtA	p.V206V	PLSCR5_uc010hvb.3_Silent_p.V194V	NM_001085420	NP_001078889	A0PG75	PLS5_HUMAN	Homo sapiens phospholipid scramblase family, member 5 (PLSCR5), mRNA.	206										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TAATGGTTTTCACCTTTAGAA	0.303000														43			31		0	0	0.002445	0	0
KLHL4	56062	broad.mit.edu	37	X	86887277	86887278	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:86887277_86887278CC>TT	uc004efa.2	+	6	1574_1575	c.1392_1393CC>TT	c.(1390-1395)ggccgt>ggTTgt	p.R465C	KLHL4_uc004efb.2_Missense_Mutation_p.R465C	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	465						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.R465H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CCATGAATGGCCGTAGGCTTCA	0.391000														8			17		0	0	0.004672	0	0
RGS7BP	401190	broad.mit.edu	37	5	63890621	63890621	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:63890621C>T	uc003jtj.3	+	3	548	c.548C>T	c.(547-549)tCa>tTa	p.S183L	RGS7BP_uc011cqu.2_Missense_Mutation_p.S50L	NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA.	183					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane		p.S183S(1)		breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		GACTCCTCATCATCCCCCGTA	0.498000														40			13		0	0	0.001855	0	0
ZC3H12D	340152	broad.mit.edu	37	6	149773795	149773795	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:149773795C>T	uc010kid.3	-	4	1014	c.744G>A	c.(742-744)agG>agA	p.R248R		NM_207360	NP_997243	A2A288	ZC12D_HUMAN	Homo sapiens zinc finger CCCH-type containing 12D (ZC3H12D), mRNA.	248						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		GCTTCGGCTTCCTGCTCAGGA	0.617000														12			9		0	0	0.004482	0	0
CDH18	1016	broad.mit.edu	37	5	19473628	19473628	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:19473628C>T	uc003jgd.3	-	12	2614	c.2080G>A	c.(2080-2082)Gaa>Aaa	p.E694K	CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Missense_Mutation_p.E694K|CDH18_uc021xwu.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	694					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGCTTCACTTCAGGTCTGATA	0.507000														18			18		0	0	0.004990	0	0
LGI2	55203	broad.mit.edu	37	4	25030152	25030152	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:25030152G>A	uc003grf.2	-	1	345	c.246C>T	c.(244-246)tcC>tcT	p.S82S		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	82						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				AAGGCAGATGGGAAAACATTC	0.522000														5			5		0	0	0.001168	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795419	142795419	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:142795419C>T	uc004fbz.3	-	1	1013	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	87										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCTAGGCCTTCGTCCTCCTCC	0.488000														79			121		0	0	0.003610	0	0
AKD1	221264	broad.mit.edu	37	6	109867287	109867287	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:109867287C>T	uc003ptn.2	-	25	3085	c.3008G>A	c.(3007-3009)gGc>gAc	p.G1003D	AKD1_uc011eat.1_Missense_Mutation_p.G82D	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1003					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						CATAGTTTTGCCAGAGCCCTG	0.448000														117			17		0	0	0.008871	0	0
RBP3	5949	broad.mit.edu	37	10	48389017	48389017	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:48389017C>T	uc001jez.3	-	0	1975	c.1861G>A	c.(1861-1863)Gag>Aag	p.E621K		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	621	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCCAGGGCCTCCTCGGCCAGC	0.672000														23			11		0	0	0.001368	0	0
OR8K3	219473	broad.mit.edu	37	11	56085818	56085818	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56085818C>T	uc010rjf.2	+	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TGAATGAATTCATTCTTACGG	0.413000														55			20		0	0	0.008871	0	0
AKD1	221264	broad.mit.edu	37	6	109996915	109996915	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:109996915A>G	uc003ptn.2	-	1	111	c.34T>C	c.(34-36)Ttt>Ctt	p.F12L	AKD1_uc003ptr.4_Missense_Mutation_p.F12L|AKD1_uc003pts.2_Non-coding_Transcript	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	12					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	p.P11H(1)		endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						ATATCTGCAAAAGGATACTCT	0.328000														45			8		0	0	0.003080	0	0
MC2R	4158	broad.mit.edu	37	18	13884916	13884916	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:13884916C>T	uc002ksp.1	-	1	779	c.602G>A	c.(601-603)cGa>cAa	p.R201Q	MC2R_uc021uhs.1_Missense_Mutation_p.R201Q	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	201					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GGTGTGGGATCGAGCCAGCAG	0.577000														27			20		0	0	0.010504	0	0
DNAH9	1770	broad.mit.edu	37	17	11556254	11556254	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:11556254G>A	uc002gne.3	+	13	2598	c.2530G>A	c.(2530-2532)Gat>Aat	p.D844N	DNAH9_uc010coo.3_Missense_Mutation_p.D138N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	844	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	p.D844Y(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGATCGGCATGATCGAATGGA	0.418000														32			12		0	0	0.001368	0	0
FSIP1	161835	broad.mit.edu	37	15	40018827	40018827	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:40018827G>A	uc001zki.3	-	8	1231	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	338										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AGAAAAACTGGAAATTGTAGG	0.393000														29			9		0	0	0.008291	0	0
SEMA6C	10500	broad.mit.edu	37	1	151110475	151110475	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:151110475G>A	uc001ewv.3	-	8	990	c.654C>T	c.(652-654)tcC>tcT	p.S218S	SEMA6C_uc001ewu.3_Silent_p.S218S|SEMA6C_uc001eww.3_Intron|SEMA6C_uc009wml.2_Non-coding_Transcript	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	218	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAGCCACTTGGAGTCATACT	0.617000														37			19		0	0	0.008871	0	0
HLTF	6596	broad.mit.edu	37	3	148756981	148756981	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:148756981G>A	uc003ewq.1	-	22	2869	c.2651C>T	c.(2650-2652)tCc>tTc	p.S884F	HLTF_uc003ewr.1_Missense_Mutation_p.S884F|HLTF_uc003ews.1_Missense_Mutation_p.S883F|HLTF_uc010hve.1_Missense_Mutation_p.S883F	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	884	Helicase C-terminal.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTGGGCCATGGAACCATCCAA	0.363000														15			9		0	0	0.000978	0	0
XIRP2	129446	broad.mit.edu	37	2	168102229	168102229	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:168102229G>A	uc002udx.3	+	8	4416	c.4327G>A	c.(4327-4329)Gaa>Aaa	p.E1443K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E1268K|XIRP2_uc010fpq.3_Missense_Mutation_p.E1221K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1268					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGTGTCAATGAAATACAAAA	0.328000														11			9		0	0	0.006214	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336586	30336586	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:30336586C>T	uc009xle.2	-	1	293	c.156G>A	c.(154-156)gcG>gcA	p.A52A	KIAA1462_uc001iux.3_Silent_p.A52A|KIAA1462_uc001iuy.3_Silent_p.A52A|KIAA1462_uc001iuz.3_5'UTR	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	52										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTGCGAGGGCCGCAGGGCCAT	0.672000														26			8		0	0	0.008291	0	0
ITSN2	50618	broad.mit.edu	37	2	24522854	24522854	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:24522854T>A	uc002rfe.2	-	11	1526	c.1268A>T	c.(1267-1269)gAa>gTa	p.E423V	ITSN2_uc002rff.2_Missense_Mutation_p.E423V|ITSN2_uc002rfg.3_Missense_Mutation_p.E423V|ITSN2_uc010eyd.2_Missense_Mutation_p.E448V	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	423					endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAAGCGTTTTTCTAATTCAAG	0.383000														78			13		0	0	0.001855	0	0
WEE1	7465	broad.mit.edu	37	11	9608075	9608075	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:9608075C>T	uc001mhs.3	+	8	1803	c.1550C>T	c.(1549-1551)cCg>cTg	p.P517L	WEE1_uc001mht.3_Missense_Mutation_p.P303L	NM_003390	NP_001137448	P30291	WEE1_HUMAN	Homo sapiens WEE1 homolog (S. pombe) (WEE1), transcript variant 1, mRNA.	517	Protein kinase.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|blood coagulation|cell cycle checkpoint|cell division|mitosis	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	p.P517P(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		GAACCTCTTCCGAGAAATGGA	0.403000														38			28		0	0	0.008361	0	0
CLDN18	51208	broad.mit.edu	37	3	137749972	137749972	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:137749972G>A	uc003ero.1	+	4	828	c.775G>A	c.(775-777)Gac>Aac	p.D259N	CLDN18_uc003erp.1_Missense_Mutation_p.D259N|CLDN18_uc010hue.1_Missense_Mutation_p.D215N	NM_001002026	NP_001002026	P56856	CLD18_HUMAN	Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA.	259					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						TTCCAAGCACGACTATGTGTA	0.493000														48			13		0	0	0.002450	0	0
RBM47	54502	broad.mit.edu	37	4	40440173	40440173	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:40440173C>T	uc003gvc.2	-	3	1448	c.738G>A	c.(736-738)aaG>aaA	p.K246K	RBM47_uc003gvd.2_Silent_p.K246K|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.K208K|RBM47_uc003gvg.1_Silent_p.K246K	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	246	RRM 3.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGTAGAGGATCTTCACGGTCT	0.612000														32			34		0	0	0.006230	0	0
MUC16	94025	broad.mit.edu	37	19	9073586	9073586	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9073586G>A	uc002mkp.3	-	2	14064	c.13860C>T	c.(13858-13860)atC>atT	p.I4620I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4622	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						TGGAGAGGATGATGTTTGACT	0.478000														39			16		0	0	0.003163	0	0
PDK4	5166	broad.mit.edu	37	7	95222231	95222231	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:95222231G>A	uc003uoa.3	-	3	690	c.370C>T	c.(370-372)Cga>Tga	p.R124*	PDK4_uc003unz.3_5'Flank	NM_002612	NP_002603	Q16654	PDK4_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 4 (PDK4), nuclear gene encoding mitochondrial protein, mRNA.	124					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			TGTCTATTTCGAACTTTGATG	0.353000														40			33		0	0	0.002836	0	0
FBN2	2201	broad.mit.edu	37	5	127728929	127728929	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:127728929C>T	uc003kuu.3	-	9	1803	c.1364G>A	c.(1363-1365)gGg>gAg	p.G455E	FBN2_uc003kuv.2_Missense_Mutation_p.G422E	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	455					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GAAGCCTGTCCCTCCTGGGCC	0.612000														50			13		0	0	0.001855	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717669	2717669	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:2717669G>A	uc002lwf.3	-	1	294	c.136C>T	c.(136-138)Cag>Tag	p.Q46*	DIRAS1_uc021umt.1_Nonsense_Mutation_p.Q46*	NM_145173	NP_660156	O95057	DIRA1_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 1 (DIRAS1), mRNA.	46					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		CTGATCACCTGCCGGTAGGTG	0.657000														25			15		0	0	0.004990	0	0
CUL4B	8450	broad.mit.edu	37	X	119674287	119674287	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:119674287G>A	uc004esw.3	-	12	2065	c.1628C>T	c.(1627-1629)gCc>gTc	p.A543V	CUL4B_uc010nqq.3_Missense_Mutation_p.A242V|CUL4B_uc004esv.3_Missense_Mutation_p.A525V	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	543					DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCTTTCATGGCATTGATAAA	0.313000														17			6		0	0	0.003080	0	0
NAP1L3	4675	broad.mit.edu	37	X	92926783	92926783	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:92926783T>C	uc004efq.3	-	0	1900	c.1521A>G	c.(1519-1521)taA>taG	p.*507*	FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.	0					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCAGATTGACTTATTTTCTGT	0.323000														4			10		0	0	0.006214	0	0
LRP4	4038	broad.mit.edu	37	11	46921504	46921504	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:46921504C>T	uc001ndn.4	-	3	583	c.340G>A	c.(340-342)Gag>Aag	p.E114K	LRP4_uc009ylh.2_Missense_Mutation_p.E65K	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	114	LDL-receptor class A 3.				Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGGGAAACTCGTCCTCCTCA	0.617000														41			10		0	0	0.008291	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053780	95053780	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:95053780G>A	uc001ydm.2	+	2	291	c.81G>A	c.(79-81)atG>atA	p.M27I	SERPINA5_uc010ave.2_Missense_Mutation_p.M27I|SERPINA5_uc001ydn.1_Missense_Mutation_p.M27I	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	27					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	p.M27I(2)		endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CCCGGGAGATGAAGAAGAGAG	0.612000														42			29		0	0	0.007291	0	0
COL4A4	1286	broad.mit.edu	37	2	227872289	227872289	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:227872289C>T	uc021vxr.1	-	46	4926	c.4825G>A	c.(4825-4827)Gac>Aac	p.D1609N	COL4A4_uc021vxs.1_Missense_Mutation_p.D1606N	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1609	Collagen IV NC1.				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)		CCTCCTTGGTCCCCAGCTCCT	0.567000														38			10		0	0	0.008291	0	0
NDUFS8	4728	broad.mit.edu	37	11	67800722	67800722	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:67800722A>C	uc001onc.3	+	4	461	c.344A>C	c.(343-345)aAg>aCg	p.K115T	NDUFS8_uc010rpz.2_Missense_Mutation_p.K115T|NDUFS8_uc009ysb.2_Intron|MIR4691_uc021qml.1_5'Flank	NM_002496	NP_002487	O00217	NDUS8_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) (NDUFS8), nuclear gene encoding mitochondrial protein, mRNA.	115	4Fe-4S ferredoxin-type 1.				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding			endometrium(1)|kidney(1)|lung(5)|skin(1)	8					NADH(DB00157)	ATTGCCTGCAAGCTCTGCGAG	0.701000														18			3		0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9063573	9063573	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9063573G>A	uc002mkp.3	-	2	24077	c.23873C>T	c.(23872-23874)tCa>tTa	p.S7958L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7960	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						GCTCATCCATGATACATCCTC	0.453000														41			5		0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179395822	179395823	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179395822_179395823GG>AA	uc021vsy.1	-	306	98040_98041	c.97815_97816CC>TT	c.(97813-97818)gcccgc>gcTTgc	p.R32606C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R26301C|TTN_uc021vta.1_Missense_Mutation_p.R26234C|TTN_uc021vtb.1_Missense_Mutation_p.R26109C|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33533							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)			ACTTGGTGGCGGGCAGAAGTAC	0.510000														167			33		0	0	0.004672	0	0
CTAGE1	64693	broad.mit.edu	37	18	19997229	19997229	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:19997229C>T	uc002ktv.1	-	0	650	c.546G>A	c.(544-546)tgG>tgA	p.W182*		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	182						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AATTTTCTTTCCAAGCATCTT	0.368000														56			32		0	0	0.003271	0	0
FOXO3	2309	broad.mit.edu	37	6	108984918	108984918	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:108984918C>T	uc003psk.2	+	2	1198	c.882C>T	c.(880-882)agC>agT	p.S294S	FOXO3_uc003psm.2_Silent_p.S294S|FOXO3_uc011ean.1_Silent_p.S74S|FOXO3_uc010kdj.1_Silent_p.S74S	NM_201559	NP_963853	O43524	FOXO3_HUMAN	Homo sapiens forkhead box O3 (FOXO3), transcript variant 2, mRNA.	294				PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 5; CAA04860).	antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GGCCTGGCAGCCCCACGTCAC	0.637000														20			4		0	0	0.000602	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76482679	76482679	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:76482679C>T	uc002fex.1	+	4	906	c.767C>T	c.(766-768)cCt>cTt	p.P256L	CNTNAP4_uc002feu.1_Missense_Mutation_p.P252L|CNTNAP4_uc002fev.1_Missense_Mutation_p.P165L|CNTNAP4_uc010chb.1_Missense_Mutation_p.P228L|CNTNAP4_uc002few.2_Missense_Mutation_p.P228L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	253	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GCTAAACTGCCTTCCACTTCC	0.453000														9			3		0	0	0.009096	0	0
TNXB	7148	broad.mit.edu	37	6	32010358	32010358	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:32010358C>T	uc003nzl.2	-	39	12280	c.12078G>A	c.(12076-12078)agG>agA	p.R4026R	TNXB_uc003nzg.1_Silent_p.R457R|TNXB_uc003nzh.1_Silent_p.R495R	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	4073	Fibronectin type-III 32.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCCGCAGTCCCTGGGGAAGG	0.682000														173			44		0	0	0.003610	0	0
HIVEP2	3097	broad.mit.edu	37	6	143074907	143074907	+	Silent	SNP	G	A	A	rs140448659	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:143074907G>A	uc003qjd.3	-	9	7421	c.6678C>T	c.(6676-6678)atC>atT	p.I2226I		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	2226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCACCATGGGGATAGGGGCTC	0.547000														52			20		0	0	0.010504	0	0
IFT52	51098	broad.mit.edu	37	20	42265791	42265791	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:42265791C>T	uc002xkw.3	+	11	1140	c.1018C>T	c.(1018-1020)Cct>Tct	p.P340S	IFT52_uc002xkx.3_Non-coding_Transcript|IFT52_uc002xkz.3_Missense_Mutation_p.P340S	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	Homo sapiens intraflagellar transport 52 homolog (Chlamydomonas) (IFT52), mRNA.	340						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TTAGGTTTTTCCTCCCAGTTT	0.398000														44			25		0	0	0.002780	0	0
CXorf66	347487	broad.mit.edu	37	X	139040376	139040376	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:139040376C>T	uc004fbb.3	-	2	111	c.89_splice	c.e2-1	p.G30_splice		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA.	30						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						AGGTTTATCTCCTGCAAAGAG	0.308000														22			37		0	0	0.004878	0	0
TACR3	6870	broad.mit.edu	37	4	104510993	104510994	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:104510993_104510994GG>AA	uc003hxe.1	-	4	1384_1385	c.1243_1244CC>TT	c.(1243-1245)ccc>TTc	p.P415F		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	415						integral to plasma membrane	tachykinin receptor activity	p.P415A(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TGCATCGTTGGGGTCAAACACG	0.515000														112			25		0	0	0.004672	0	0
PYDC2	152138	broad.mit.edu	37	3	191179243	191179243	+	Nonstop_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:191179243T>A	uc011bso.2	+	0	292	c.292T>A	c.(292-294)Taa>Aaa	p.*98K		NM_001083308	NP_001076777	Q56P42	PYDC2_HUMAN	Homo sapiens pyrin domain containing 2 (PYDC2), mRNA.	0						cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						GCCCCCACCTTAACCCCTCAG	0.478000														43			25		0	0	0.005443	0	0
VAV3	10451	broad.mit.edu	37	1	108313335	108313335	+	Missense_Mutation	SNP	C	T	T	rs140605941		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:108313335C>T	uc001dvk.1	-	5	625	c.571G>A	c.(571-573)Gat>Aat	p.D191N	VAV3_uc010ouw.1_Missense_Mutation_p.D191N|VAV3_uc001dvl.1_Missense_Mutation_p.D15N|VAV3_uc010oux.1_Missense_Mutation_p.D191N	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	191					B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTTCGTATATCATTTTCTGGA	0.294000														76			44		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179477893	179477893	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179477893G>A	uc021vsy.1	-	212	42164	c.41939C>T	c.(41938-41940)cCc>cTc	p.P13980L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P7675L|TTN_uc021vta.1_Missense_Mutation_p.P7608L|TTN_uc021vtb.1_Missense_Mutation_p.P7483L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14907	Ig-like 95.						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)			AATACCTATGGGATCCTTTAT	0.343000														21			5		0	0	0.000602	0	0
GPR50	9248	broad.mit.edu	37	X	150348464	150348464	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:150348464G>A	uc010ntg.2	+	1	547	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	GPR50_uc011myc.2_Missense_Mutation_p.E137K	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	137					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCAGTACGAACGGATCTT	0.542000														14			30		0	0	0.008361	0	0
MYOM1	8736	broad.mit.edu	37	18	3188987	3188987	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:3188987C>T	uc002klp.3	-	3	864	c.530G>A	c.(529-531)gGa>gAa	p.G177E	MYOM1_uc002klq.3_Missense_Mutation_p.G177E	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	177						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGTTGTGATTCCTTCCTCACT	0.473000														78			28		0	0	0.006320	0	0
TADA1	117143	broad.mit.edu	37	1	166831521	166831522	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:166831521_166831522CC>TT	uc001gdw.3	-	4	642_643	c.458_459GG>AA	c.(457-459)ggg>gAA	p.G153E	TADA1_uc001gdv.3_Missense_Mutation_p.G11E	NM_053053	NP_444281	Q96BN2	TADA1_HUMAN	Homo sapiens transcriptional adaptor 1 (TADA1), mRNA.	153					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						CTATCATTCTCCCTTCAAGCTG	0.505000														64			27		0	0	0.004672	0	0
CCDC147	159686	broad.mit.edu	37	10	106209871	106209871	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:106209871G>A	uc001kyh.3	+	16	2553	c.2419G>A	c.(2419-2421)Gaa>Aaa	p.E807K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	807										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACAGAGCAAAGAATATAAATA	0.313000														41			16		0	0	0.004990	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596413	97596414	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:97596413_97596414CC>TA	uc003drx.3	+	0	595_596	c.531_532CC>TA	c.(529-534)tccctt>tcTAtt	p.L178I	CRYBG3_uc021xbn.1_Missense_Mutation_p.L178I					RecName: Full=Beta/gamma crystallin domain-containing protein 3;											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						CTGTTTTATCCCTTCTCCAGTC	0.465000														44			19		0	0	0.004672	0	0
FREM1	158326	broad.mit.edu	37	9	14801703	14801703	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:14801703G>A	uc003zlm.3	-	20	4457	c.3641C>T	c.(3640-3642)cCt>cTt	p.P1214L	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1214					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TTTCTGGTGAGGGTTGGCTGG	0.468000														17			18		0	0	0.006122	0	0
NTRK3	4916	broad.mit.edu	37	15	88423518	88423518	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:88423518G>A	uc002bme.2	-	18	2623	c.2317C>T	c.(2317-2319)Caa>Taa	p.Q773*	NTRK3_uc002bmh.2_Nonsense_Mutation_p.Q751*|NTRK3_uc002bmf.2_Nonsense_Mutation_p.Q759*|NTRK3_uc021sua.1_Nonsense_Mutation_p.Q751*	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	773	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.Q759K(1)|p.Q773K(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTTGAGAGTTGGAACCATGGC	0.493000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				48			19		0	0	0.008871	0	0
LRBA	987	broad.mit.edu	37	4	151203676	151203676	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:151203676C>T	uc010ipj.3	-	55	8519	c.8275G>A	c.(8275-8277)Gaa>Aaa	p.E2759K	LRBA_uc010ipi.3_Missense_Mutation_p.E281K|LRBA_uc003ils.4_Missense_Mutation_p.E654K|LRBA_uc003ilt.4_Missense_Mutation_p.E1407K|LRBA_uc003ilu.4_Missense_Mutation_p.E2747K|LRBA_uc003ilr.4_Missense_Mutation_p.E179K	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2759						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGGCCGTTTTCATAGAATATG	0.458000														58			13		0	0	0.001855	0	0
ZZEF1	23140	broad.mit.edu	37	17	3974195	3974195	+	Silent	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:3974195G>T	uc002fxe.3	-	25	3922	c.3858C>A	c.(3856-3858)ccC>ccA	p.P1286P	ZZEF1_uc002fxj.1_5'UTR	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	1286							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AATGGCGGCAGGGGTCGTCAG	0.383000														27			7		0.00198382	0.00216413	0.001984	1	0
PACS1	55690	broad.mit.edu	37	11	65988658	65988658	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:65988658C>T	uc001oha.2	+	9	1367	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S		NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	411					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						AGTCCAGCTCCCAGACGGAGA	0.622000														64			28		0	0	0.009535	0	0
SACS	26278	broad.mit.edu	37	13	23908129	23908129	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:23908129G>A	uc001uon.2	-	9	10475	c.9886C>T	c.(9886-9888)Cct>Tct	p.P3296S	SACS_uc001uoo.2_Missense_Mutation_p.P3149S|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.	3296					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	p.E3295D(1)		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)		TCTCCTTCAGGAACCACAAGC	0.413000														25			21		0	0	0.002299	0	0
WFDC12	128488	broad.mit.edu	37	20	43752764	43752764	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:43752764C>T	uc002xnf.1	-	1	240	c.222G>A	c.(220-222)gtG>gtA	p.V74V		NM_080869	NP_543145	Q8WWY7	WFD12_HUMAN	Homo sapiens WAP four-disulfide core domain 12 (WFDC12), mRNA.	74	WAP.				defense response to bacterium	extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6		Myeloproliferative disorder(115;0.0122)				CCAGTTCCTTCACAGGAATCA	0.542000														17			13		0	0	0.001368	0	0
PLCH2	9651	broad.mit.edu	37	1	2421228	2421228	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:2421228G>A	uc001aji.1	+	9	1708	c.1434G>A	c.(1432-1434)gaG>gaA	p.E478E	PLCH2_uc010nyz.2_Silent_p.E267E|PLCH2_uc009vle.1_Silent_p.E267E|PLCH2_uc001ajj.1_Silent_p.E267E|PLCH2_uc001ajk.1_Silent_p.E267E	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	479					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.V477M(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ACATCAGCGAGGATGCGGAGG	0.592000														53			29		0	0	0.003271	0	0
MARCO	8685	broad.mit.edu	37	2	119739064	119739064	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:119739064C>T	uc002tln.1	+	8	978	c.846C>T	c.(844-846)ttC>ttT	p.F282F	MARCO_uc010yyf.1_Silent_p.F204F	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	282	Collagen-like.		F -> S (in dbSNP:rs6761637).		cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AAGGTGACTTCGGGAGGCCAG	0.527000														12			8		0	0	0.003080	0	0
KIF5C	3800	broad.mit.edu	37	2	149868094	149868094	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:149868094C>T	uc010zbu.2	+	24	3173	c.2778C>T	c.(2776-2778)atC>atT	p.I926I	KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twu.1_Silent_p.I208I	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	926	Globular.				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)		CCAAGCCCATCCGCCCCGGAC	0.498000														32			18		0	0	0.004990	0	0
ABCA13	154664	broad.mit.edu	37	7	48317803	48317803	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:48317803C>T	uc003toq.2	+	17	7036	c.7012C>T	c.(7012-7014)Cac>Tac	p.H2338Y		NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2338					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GACTATATATCACCTAATGAA	0.294000														18			5		0	0	0.000602	0	0
SCGB1D1	10648	broad.mit.edu	37	11	61960872	61960872	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:61960872G>A	uc001nsz.1	+	3	291	c.244_splice	c.e3-1	p.G82_splice		NM_006552	NP_006543	O95968	SG1D1_HUMAN	Homo sapiens secretoglobin, family 1D, member 1 (SCGB1D1), mRNA.	82						extracellular space	binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						CTATTTCAGGGAAAAATAGCA	0.413000														15			9		0	0	0.000978	0	0
IL17RB	55540	broad.mit.edu	37	3	53883697	53883697	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:53883697G>A	uc003dha.3	+	2	140	c.101G>A	c.(100-102)tGg>tAg	p.W34*		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	Homo sapiens interleukin 17 receptor B (IL17RB), mRNA.	34					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		TCTCCAGAGTGGATGCTACAA	0.483000														103			23		0	0	0.004656	0	0
C2orf78	388960	broad.mit.edu	37	2	74043271	74043271	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:74043271G>A	uc002sjr.1	+	2	2042	c.1921G>A	c.(1921-1923)Ggg>Agg	p.G641R		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	641								p.G641W(1)|p.G611W(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCATGCACTCGGGAAAAAGAT	0.493000														38			24		0	0	0.003954	0	0
KRT26	353288	broad.mit.edu	37	17	38928356	38928356	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:38928356G>A	uc002hvf.3	-	0	56	c.10C>T	c.(10-12)Cga>Tga	p.R4*		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	4	Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CCAGAAAGTCGAAAAGACATG	0.557000														17			47		0	0	0.002522	0	0
PKN1	5585	broad.mit.edu	37	19	14581591	14581591	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:14581591G>A	uc002myp.3	+	20	2721	c.2553G>A	c.(2551-2553)cgG>cgA	p.R851R	PKN1_uc002myq.3_Silent_p.R857R	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	851	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						AGCTGCTTCGGAGGAACCCAG	0.617000														53			24		0	0	0.006320	0	0
TCF21	6943	broad.mit.edu	37	6	134210590	134210590	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:134210590G>A	uc003qei.4	+	0	332	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	BC041459_uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.E19K	NM_003206	NP_938206	O43680	TCF21_HUMAN	Homo sapiens transcription factor 21 (TCF21), transcript variant 2, mRNA.	19					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	E-box binding|androgen receptor binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		GGAGATGTTGGAATGTGACGG	0.542000														51			30		0	0	0.002445	0	0
SLC28A2	9153	broad.mit.edu	37	15	45556876	45556877	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:45556876_45556877GG>AA	uc001zva.2	+	6	677_678	c.612_613GG>AA	c.(610-615)tcgggc>tcAAgc	p.G205S		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	205					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	p.S204S(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		CAGTGTTTTCGGGCCTAGGTCT	0.416000														48			21		0	0	0.004672	0	0
PDE1C	5137	broad.mit.edu	37	7	31887604	31887604	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:31887604T>G	uc003tcm.2	-	8	1419	c.958A>C	c.(958-960)Aac>Cac	p.N320H	PDE1C_uc003tcn.1_Missense_Mutation_p.N320H|PDE1C_uc003tco.2_Missense_Mutation_p.N380H|PDE1C_uc003tcr.3_Missense_Mutation_p.N320H|PDE1C_uc003tcs.3_Missense_Mutation_p.N320H	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	320	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTTGAGAGGTTAATCAAAATA	0.398000														54			6		0	0	0.001984	0	0
PAG1	55824	broad.mit.edu	37	8	81897132	81897132	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:81897132G>A	uc003ybz.3	-	6	1466	c.755C>T	c.(754-756)cCa>cTa	p.P252L		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	Homo sapiens phosphoprotein associated with glycosphingolipid microdomains 1 (PAG1), mRNA.	252					T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|intracellular signal transduction	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			CTCCTCTTCTGGATCACATGA	0.483000														77			39		0	0	0.008740	0	0
TRANK1	9881	broad.mit.edu	37	3	36893771	36893771	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:36893771G>A	uc003cgj.3	-	12	4731	c.4483C>T	c.(4483-4485)Cgc>Tgc	p.R1495C		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1495					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.E1495K(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTTGGAAGGCGATCAAAAGAT	0.428000														11			6		0	0	0.001168	0	0
TRPM1	4308	broad.mit.edu	37	15	31294043	31294043	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:31294043G>A	uc021sia.1	-	26	5225	c.4911C>T	c.(4909-4911)tcC>tcT	p.S1637S	TRPM1_uc010azy.3_Silent_p.S1505S|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Silent_p.S1620S|TRPM1_uc001zfm.3_Silent_p.S1598S	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1598					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CAGTTTCTGTGGAAGCTTTCT	0.358000														17			6		0	0	0.001168	0	0
ZNF780A	284323	broad.mit.edu	37	19	40581067	40581067	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:40581067G>A	uc010xvh.2	-	5	1433	c.1285C>T	c.(1285-1287)Cgt>Tgt	p.R429C	ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Missense_Mutation_p.R428C|ZNF780A_uc002omz.3_Missense_Mutation_p.R428C	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA.	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGTGCACCACGATTAAAGCCT	0.383000														105			46		0	0	0.003214	0	0
XKR4	114786	broad.mit.edu	37	8	56435906	56435906	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:56435906G>A	uc003xsf.3	+	2	1105	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	358						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)			AAGGCCCTCCGGGACTCTCGA	0.577000														28			6		0	0	0.001168	0	0
VCAM1	7412	broad.mit.edu	37	1	101185425	101185425	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:101185425G>A	uc001dti.3	+	0	230	c.9G>A	c.(7-9)ggG>ggA	p.G3G	VCAM1_uc010ouj.2_Silent_p.G3G|VCAM1_uc001dtj.3_Silent_p.G3G	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	3					heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AAATGCCTGGGAAGATGGTCG	0.413000														38			10		0	0	0.001368	0	0
LRP1	4035	broad.mit.edu	37	12	57600440	57600440	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:57600440C>T	uc001snd.3	+	75	12241	c.11775C>T	c.(11773-11775)tcC>tcT	p.S3925S		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3925					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCACCATCTCCTACCGCAGCC	0.607000														14			23		0	0	0.003954	0	0
TOPORS	10210	broad.mit.edu	37	9	32543665	32543665	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:32543665G>A	uc003zrb.3	-	2	1050	c.858C>T	c.(856-858)ttC>ttT	p.F286F	TOPORS_uc003zrc.3_Silent_p.F221F	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.	286	Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|DNA topoisomerase I binding|SUMO ligase activity|antigen binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		GATTTCTACGGAAAAATTCAG	0.393000														33			10		0	0	0.006214	0	0
CALU	813	broad.mit.edu	37	7	128409143	128409143	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:128409143C>T	uc022ald.1	+	7	1837	c.894C>T	c.(892-894)atC>atT	p.I298I	CALU_uc022alg.1_Silent_p.I216I|CALU_uc022alh.1_Silent_p.I216I|CALU_uc022ali.1_Silent_p.I138I|CALU_uc003vns.3_Silent_p.I290I|CALU_uc003vnr.3_Silent_p.I298I|CALU_uc003vnq.3_Silent_p.I290I|CALU_uc022ale.1_Missense_Mutation_p.R224C|CALU_uc022alf.1_Silent_p.I139I	NM_001199672	NP_001186601	O43852	CALU_HUMAN	Homo sapiens calumenin (CALU), transcript variant 4, mRNA.	290	EF-hand 6.				platelet activation|platelet degranulation	Golgi apparatus|extracellular region|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						AGGAGGAGATCGTTGACAAGT	0.423000														28			16		0	0	0.004007	0	0
SNCAIP	9627	broad.mit.edu	37	5	121780306	121780306	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:121780306G>A	uc003ksw.1	+	7	1677	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	SNCAIP_uc011cwl.1_Missense_Mutation_p.E49K|SNCAIP_uc003ksy.1_Missense_Mutation_p.E125K|SNCAIP_uc003ksx.1_Missense_Mutation_p.E538K|SNCAIP_uc003ksz.1_Missense_Mutation_p.E125K|SNCAIP_uc010jcu.2_Missense_Mutation_p.E87K|SNCAIP_uc011cwm.1_Missense_Mutation_p.E125K|SNCAIP_uc003kta.1_Missense_Mutation_p.E123K|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E185K|SNCAIP_uc010jcx.1_Missense_Mutation_p.E431K|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.E7K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	491					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCACGCTGGGGAAAAGCCCTC	0.537000														37			11		0	0	0.008291	0	0
OR4C15	81309	broad.mit.edu	37	11	55322605	55322605	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55322605T>C	uc010rig.2	+	0	823	c.823T>C	c.(823-825)Ttg>Ctg	p.L275L		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGCTGTCATCTTGCTCTCTCT	0.463000										HNSCC(20;0.049)				91			30		0	0	0.002096	0	0
CETP	1071	broad.mit.edu	37	16	57004978	57004978	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:57004978C>T	uc002eki.2	+	5	618	c.561C>T	c.(559-561)ttC>ttT	p.F187F	CETP_uc002ekj.2_Silent_p.F187F	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	187					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TCACAAATTTCATCTCCTTCA	0.582000														39			14		0	0	0.004007	0	0
LHX6	26468	broad.mit.edu	37	9	124979471	124979471	+	Silent	SNP	G	A	A	rs116345380	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:124979471G>A	uc004blx.4	-	4	630	c.558C>T	c.(556-558)ttC>ttT	p.F186F	LHX6_uc022bmw.1_5'UTR|LHX6_uc010mvw.3_Silent_p.F157F|LHX6_uc022bmx.1_Silent_p.F175F|LHX6_uc004bly.4_Silent_p.F186F	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN	Homo sapiens LIM homeobox 6 (LHX6), transcript variant 1, mRNA.	157	Required for interaction with LBD1 (By similarity).				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						AGAAGCAGGCGAAGCAGGCCA	0.642000														55			9		0	0	0.008291	0	0
CACNA1E	777	broad.mit.edu	37	1	181754848	181754848	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:181754848G>A	uc009wxt.3	+	43	5875	c.5680_splice	c.e43-1	p.K1894_splice	CACNA1E_uc001gow.3_Splice_Site_p.K1894_splice|CACNA1E_uc009wxs.3_Splice_Site_p.K1875_splice	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1894					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						TTTTTACCCAGAAAAATGCCC	0.453000														116			52		0	0	0.003610	0	0
C1orf87	127795	broad.mit.edu	37	1	60520946	60520946	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:60520946T>C	uc001czs.2	-	2	380	c.272A>G	c.(271-273)aAc>aGc	p.N91S		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	91							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TTTCTGGTTGTTCTCTGGGTG	0.433000														151			82		0	0	0.003610	0	0
SGSM1	129049	broad.mit.edu	37	22	25294145	25294145	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:25294145G>A	uc003abg.2	+	19	2551	c.2394G>A	c.(2392-2394)cgG>cgA	p.R798R	SGSM1_uc010guu.1_Silent_p.R743R|SGSM1_uc003abh.2_Silent_p.R737R|SGSM1_uc003abj.2_Silent_p.R682R|SGSM1_uc003abi.1_Silent_p.R718R	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	798	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity	p.I798I(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ACGCCCAGCGGAACACCCCCA	0.627000														46			9		0	0	0.000978	0	0
ZFP112	7771	broad.mit.edu	37	19	44833723	44833723	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:44833723G>A	uc010xwy.2	-	4	774	c.656C>T	c.(655-657)tCc>tTc	p.S219F	ZFP112_uc010ejj.3_Missense_Mutation_p.S202F|ZFP112_uc002ozc.4_Missense_Mutation_p.S196F|ZFP112_uc010xwz.2_Missense_Mutation_p.S201F	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA.	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						ATTTTTCATGGAAATTTGCTG	0.378000														58			29		0	0	0.008361	0	0
CHD7	55636	broad.mit.edu	37	8	61769330	61769331	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:61769330_61769331CC>AT	uc003xue.3	+	33	7983_7984	c.7491_7492CC>AT	c.(7489-7494)ctcctt>ctATtt	p.L2498F	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2498					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAAGGCATCTCCTTAATGGCTC	0.505000														78			36		0	0	0.004672	0	0
C2orf89	129293	broad.mit.edu	37	2	85059191	85059191	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:85059191C>T	uc010ysl.2	-	4	1159	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q	C2orf89_uc002sou.4_Missense_Mutation_p.R308Q	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	357						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						GTGGATGGGTCGTCCAGCAGG	0.562000														52			9		0	0	0.006214	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255590	15255590	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:15255590G>A	uc001iob.3	-	7	2004	c.1997C>T	c.(1996-1998)tCt>tTt	p.S666F		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	666						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GATGGAGAGAGACTCCGACAT	0.622000														28			8		0	0	0.003080	0	0
ABCC9	10060	broad.mit.edu	37	12	21970222	21970222	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:21970222C>T	uc001rfh.3	-	30	3811	c.3791G>A	c.(3790-3792)tGg>tAg	p.W1264*	ABCC9_uc001rfi.1_Nonsense_Mutation_p.W1264*	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1264	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCTCACAACCCAATTCAAATA	0.388000														33			56		0	0	0.003610	0	0
BRD4	23476	broad.mit.edu	37	19	15350023	15350023	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15350023G>A	uc002nar.3	-	17	3851	c.3629C>T	c.(3628-3630)cCg>cTg	p.P1210L		NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	1210					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)			GGGGGTGGTCGGATGCTTCTG	0.607000			T	C15orf55	lethal midline carcinoma of young people									30			9		0	0	0.000978	0	0
RBM43	375287	broad.mit.edu	37	2	152112214	152112214	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:152112214G>C	uc002txh.3	-	1	195	c.47C>G	c.(46-48)aCg>aGg	p.T16R		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	Homo sapiens RNA binding motif protein 43 (RBM43), mRNA.	16	RRM.						RNA binding|nucleotide binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		AACTACAACCGTTCTTTCAGG	0.383000														43			7		0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179639836	179639836	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179639836G>A	uc021vsy.1	-	28	6827	c.6602C>T	c.(6601-6603)cCa>cTa	p.P2201L	TTN_uc021vsz.1_Missense_Mutation_p.P2155L|TTN_uc021vta.1_Missense_Mutation_p.P2155L|TTN_uc021vtb.1_Missense_Mutation_p.P2155L|TTN_uc002unb.2_Missense_Mutation_p.P2201L|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2201	Ig-like 11.						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)			TTTGACAAATGGTTCTGAAGT	0.393000														31			12		0	0	0.000978	0	0
AQPEP	206338	broad.mit.edu	37	5	115335539	115335539	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:115335539G>A	uc003kro.3	+	6	1619	c.1455G>A	c.(1453-1455)aaG>aaA	p.K485K	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	485					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										TGGCCATGAAGGTGGAAAATT	0.358000														27			9		0	0	0.001855	0	0
TAF1L	138474	broad.mit.edu	37	9	32635017	32635017	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:32635017G>A	uc003zrg.1	-	0	651	c.561C>T	c.(559-561)ccC>ccT	p.P187P	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	187					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CAATGATGGAGGGCAAGATGA	0.493000														39			9		0	0	0.004482	0	0
SIRPB2	284759	broad.mit.edu	37	20	1460520	1460520	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:1460520G>A	uc002wfg.2	-	1	504	c.276C>T	c.(274-276)ttC>ttT	p.F92F	SIRPB2_uc002wfh.3_Intron|SIRPB2_uc010zpr.1_Intron	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	Homo sapiens signal-regulatory protein beta 2 (SIRPB2), transcript variant 1, mRNA.	92	Ig-like V-type 1.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTACCCCAGGGAAGGAGCCAC	0.473000														35			40		0	0	0.007835	0	0
CDSN	1041	broad.mit.edu	37	6	31084274	31084274	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:31084274C>T	uc003nsm.2	-	1	1174	c.1118G>A	c.(1117-1119)gGg>gAg	p.G373E	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	373	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						CCCACCAGTCCCCACTGGCTG	0.632000														11			5		0	0	0.000602	0	0
ROS1	6098	broad.mit.edu	37	6	117708143	117708143	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:117708143G>A	uc003pxp.1	-	13	2233	c.2034C>T	c.(2032-2034)atC>atT	p.I678I	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	678					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCACAGCCATGATAAATGGTG	0.363000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									57			6		0	0	0.001168	0	0
XDH	7498	broad.mit.edu	37	2	31595189	31595189	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:31595189G>A	uc002rnv.1	-	16	1840	c.1761C>T	c.(1759-1761)gcC>gcT	p.A587A		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	587					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCTCACCAGAGGCCTGCATGT	0.627000														155			42		0	0	0.003214	0	0
CYP2C19	1557	broad.mit.edu	37	10	96522541	96522541	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:96522541G>A	uc010qnz.2	+	0	79	c.79G>A	c.(79-81)Gga>Aga	p.G27R	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Intron	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	27					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CTCTGGGAGAGGAAAACTCCC	0.443000														50			21		0	0	0.008871	0	0
SYT16	83851	broad.mit.edu	37	14	62551016	62551016	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:62551016C>T	uc001xfu.1	+	4	1734	c.1537C>T	c.(1537-1539)Ctc>Ttc	p.L513F	SYT16_uc010tse.1_Missense_Mutation_p.L71F	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	513	C2 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTTGGTGGGGCTCTCGTACAA	0.552000														63			12		0	0	0.001368	0	0
LRP2	4036	broad.mit.edu	37	2	170058349	170058349	+	Silent	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:170058349G>T	uc002ues.3	-	43	8454	c.8241C>A	c.(8239-8241)acC>acA	p.T2747T		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2747	LDL-receptor class A 17.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CATTGGCACAGGTGAAGGCTG	0.448000														22			24		5.45024e-15	6.01523e-15	0.003330	1	0
KIAA1217	56243	broad.mit.edu	37	10	24802349	24802349	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:24802349C>T	uc001iru.4	+	9	2566	c.2163C>T	c.(2161-2163)atC>atT	p.I721I	KIAA1217_uc001irs.3_Silent_p.I641I|KIAA1217_uc001irt.4_Silent_p.I686I|KIAA1217_uc010qcy.2_Silent_p.I686I|KIAA1217_uc010qcz.2_Silent_p.I686I|KIAA1217_uc001irv.1_Silent_p.I536I|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Silent_p.I404I|KIAA1217_uc001irz.3_Silent_p.I404I|KIAA1217_uc001irx.3_Silent_p.I404I|KIAA1217_uc001iry.3_Silent_p.I404I	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	721					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAGAGAAGATCGTCAAGAAGT	0.463000											OREG0020076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			7		0	0	0.003080	0	0
OR2M5	127059	broad.mit.edu	37	1	248308994	248308994	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248308994C>T	uc010pze.2	+	0	545	c.545C>T	c.(544-546)cCt>cTt	p.P182L		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F181F(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGTGACTTCCCTTCCCTACTA	0.418000														152			63		0	0	0.003610	0	0
LGALS9B	284194	broad.mit.edu	37	17	20361571	20361571	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:20361571C>G	uc002gxa.1	-	2	323	c.258G>C	c.(256-258)gaG>gaC	p.E86D	LGALS9B_uc002gwz.1_Missense_Mutation_p.E86D|LGALS9B_uc010vzh.1_5'UTR	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9B (LGALS9B), mRNA.	86	Beta-galactoside binding 1 (By similarity).|Galectin 1.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						GCATCTTCCTCTCCTCGGGCC	0.552000														83			28		0	0	0.008361	0	0
TTN	7273	broad.mit.edu	37	2	179439647	179439647	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179439647C>T	uc021vsy.1	-	274	63733	c.63508G>A	c.(63508-63510)Gaa>Aaa	p.E21170K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E14865K|TTN_uc021vta.1_Missense_Mutation_p.E14798K|TTN_uc021vtb.1_Missense_Mutation_p.E14673K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22097	Fibronectin type-III 53.						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)			GATGAAACTTCATCAAATTTG	0.448000														15			8		0	0	0.004482	0	0
SYT4	6860	broad.mit.edu	37	18	40853803	40853803	+	Silent	SNP	C	T	T	rs150432952		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:40853803C>T	uc002law.3	-	1	960	c.591G>A	c.(589-591)acG>acA	p.T197T	SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Silent_p.T179T	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	197	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.T197T(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CTGGGAGGATCGTCATTTTGA	0.443000														55			7		0	0	0.001984	0	0
C10orf113	387638	broad.mit.edu	37	10	21435307	21435307	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:21435307G>A	uc001iqm.3	-	0	182	c.131C>T	c.(130-132)tCt>tTt	p.S44F	NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_Missense_Mutation_p.S44F	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.	44										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						AGCCACACAAGAAAAAAATGA	0.438000														30			12		0	0	0.001855	0	0
OR1C1	26188	broad.mit.edu	37	1	247920823	247920823	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:247920823C>T	uc010pza.2	-	0	886	c.886G>A	c.(886-888)Gat>Aat	p.D296N		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTCTTCATATCCCTGTTCCTT	0.428000														76			52		0	0	0.003610	0	0
MICALCL	84953	broad.mit.edu	37	11	12313749	12313749	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:12313749C>T	uc001mkg.1	+	1	325	c.34C>T	c.(34-36)Cct>Tct	p.P12S		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	12	Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		tccttctcttcctcttccttc	0.473000														19			15		0	0	0.003163	0	0
HNF4G	3174	broad.mit.edu	37	8	76471140	76471140	+	Silent	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:76471140A>C	uc003yaq.3	+	8	1120	c.850A>C	c.(850-852)Agg>Cgg	p.R284R	HNF4G_uc003yar.3_Silent_p.R321R	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	284					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CTCCCGGGGGAGGTTTGGAGA	0.448000														73			12		0	0	0.001855	0	0
TAS1R1	80835	broad.mit.edu	37	1	6634974	6634974	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:6634974G>C	uc001ant.3	+	2	878	c.782G>C	c.(781-783)cGc>cCc	p.R261P	TAS1R1_uc001anu.3_Intron|TAS1R1_uc021ofp.1_Missense_Mutation_p.R183P	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	261					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGCCTCATGCGCCACCTGGCC	0.612000														55			14		0	0	0.002450	0	0
PTPN22	26191	broad.mit.edu	37	1	114372236	114372236	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:114372236C>T	uc001eds.3	-	17	2358	c.2228G>A	c.(2227-2229)gGa>gAa	p.G743E	PTPN22_uc021orx.1_Missense_Mutation_p.G715E|PTPN22_uc009wgq.3_Missense_Mutation_p.G688E|PTPN22_uc021ory.1_Missense_Mutation_p.G719E|PTPN22_uc010owo.2_Missense_Mutation_p.G499E|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.G743E|PTPN22_uc009wgs.2_Missense_Mutation_p.G616E	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	743					T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAACTTTTTCCAGGAGTCTT	0.393000														76			30		0	0	0.008361	0	0
PAX2	5076	broad.mit.edu	37	10	102566342	102566342	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:102566342G>A	uc001krk.4	+	6	1391	c.841G>A	c.(841-843)Gag>Aag	p.E281K	PAX2_uc001krm.4_Missense_Mutation_p.E281K|PAX2_uc001krn.4_Missense_Mutation_p.E258K|PAX2_uc001kro.4_Missense_Mutation_p.E258K|PAX2_uc010qps.2_Missense_Mutation_p.E257K|PAX2_uc001krl.4_Missense_Mutation_p.E258K|PAX2_uc001krp.1_Missense_Mutation_p.E254K	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	281					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CCAGGCATCAGAGCACATCAA	0.532000														108			26		0	0	0.006320	0	0
DOCK3	1795	broad.mit.edu	37	3	51198003	51198003	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:51198003G>A	uc011bds.2	+	11	930	c.907G>A	c.(907-909)Gac>Aac	p.D303N		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	303						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCTCCTGAACGACTCAAAGAA	0.507000														13			5		0	0	0.001168	0	0
TNXB	7148	broad.mit.edu	37	6	32038093	32038093	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:32038093G>A	uc003nzl.2	-	13	5291	c.5089C>T	c.(5089-5091)Cct>Tct	p.P1697S		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1779	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGCCCTCAGGAACCGTCCAG	0.662000														123			69		0	0	0.003610	0	0
LPHN2	23266	broad.mit.edu	37	1	82434986	82434986	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:82434986G>A	uc001dit.4	+	13	2778	c.2597G>A	c.(2596-2598)cGa>cAa	p.R866Q	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.R866Q|LPHN2_uc001div.3_Missense_Mutation_p.R866Q|LPHN2_uc009wcd.3_Missense_Mutation_p.R866Q|LPHN2_uc001diw.3_Missense_Mutation_p.R450Q|LPHN2_uc009wce.1_5'Flank	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	879					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.R866Q(2)|p.R879Q(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CAGAGTGACCGAAATACTATT	0.408000														111			43		0	0	0.002852	0	0
ANKH	56172	broad.mit.edu	37	5	14758692	14758692	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:14758692C>T	uc003jfm.4	-	2	660	c.329G>A	c.(328-330)gGa>gAa	p.G110E		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	110					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AATGTAGTATCCTAAATCACT	0.398000														33			20		0	0	0.002299	0	0
OR8D2	283160	broad.mit.edu	37	11	124189845	124189845	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:124189845C>T	uc010sah.2	-	0	249	c.249G>A	c.(247-249)gtG>gtA	p.V83V		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GAACAAAGTTCACCAGCATCT	0.388000														24			4		0	0	0.009096	0	0
ZAN	7455	broad.mit.edu	37	7	100382394	100382394	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100382394G>A	uc003uwj.3	+	36	6934	c.6769G>A	c.(6769-6771)Gaa>Aaa	p.E2257K	ZAN_uc003uwk.3_Missense_Mutation_p.E2257K|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.E308K	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2258	TIL 4.				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)			TGTGCTGAGTGAAGACAAGTG	0.612000														16			6		0	0	0.001168	0	0
AUTS2	26053	broad.mit.edu	37	7	70231204	70231204	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:70231204C>T	uc003tvw.4	+	8	2308	c.1573C>T	c.(1573-1575)Cat>Tat	p.H525Y	AUTS2_uc003tvx.4_Missense_Mutation_p.H525Y|AUTS2_uc011keg.2_5'Flank	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	525	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GACCGAGTTCCATcagcacca	0.637000														39			21		0	0	0.010504	0	0
MORC1	27136	broad.mit.edu	37	3	108682323	108682324	+	Missense_Mutation	DNP	AG	CA	CA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:108682323_108682324AG>CA	uc003dxl.3	-	26	2823_2824	c.2736_2737CT>TG	c.(2734-2739)atctct>atTGct	p.S913A	MORC1_uc011bhn.2_Missense_Mutation_p.S892A	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	913					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						TTATCCTCAGAGATTTTTCTTT	0.342000														42			12		0	0	0.004672	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76877777	76877777	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:76877777C>T	uc001dhh.2	+	2	461	c.298C>T	c.(298-300)Cga>Tga	p.R100*	ST6GALNAC3_uc001dhg.4_Nonsense_Mutation_p.R100*|ST6GALNAC3_uc010orh.1_Nonsense_Mutation_p.R35*	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.	100					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TGAGATAGATCGATCCTCCTG	0.473000														41			29		0	0	0.007291	0	0
PTPRJ	5795	broad.mit.edu	37	11	48158626	48158626	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:48158626G>A	uc001ngp.4	+	9	2300	c.1945G>A	c.(1945-1947)Gat>Aat	p.D649N	PTPRJ_uc010rhr.1_Missense_Mutation_p.D94N	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	649	Fibronectin type-III 7.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCAGAACTTTGATGACGCCTC	0.443000														62			9		0	0	0.008291	0	0
MAPT	4137	broad.mit.edu	37	17	44060909	44060909	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:44060909C>T	uc002ijr.4	+	5	1061	c.739C>T	c.(739-741)Cag>Tag	p.Q247*	MAPT_uc010dau.3_Nonsense_Mutation_p.Q247*|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron|MAPT_uc021tyx.1_Nonsense_Mutation_p.Q95*	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	247					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GCGGCCTCCCCAGACAGCCGC	0.642000														9			17		0	0	0.007413	0	0
OR4C6	219432	broad.mit.edu	37	11	55433219	55433219	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55433219C>T	uc010rik.2	+	0	577	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I192V(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CACCCACATCCTGGGCCTCTT	0.438000														52			21		0	0	0.010504	0	0
CYP4F3	4051	broad.mit.edu	37	19	15760877	15760877	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15760877G>A	uc010xok.2	+	6	852	c.802G>A	c.(802-804)Gat>Aat	p.D268N	CYP4F3_uc010xol.2_Missense_Mutation_p.D268N|CYP4F3_uc002nbj.3_Missense_Mutation_p.D268N|CYP4F3_uc010xom.2_Missense_Mutation_p.D119N|CYP4F3_uc002nbk.3_Missense_Mutation_p.D268N|CYP4F3_uc010xon.2_5'UTR	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	268					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CGACTTCACAGATGCCGTCAT	0.562000														82			28		0	0	0.003271	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19425970	19425970	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:19425970C>T	uc010tcj.1	-	0		c.20140G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		CAGGATCTTCCATTTCAGTGC	0.313000														34			10		0	0	0.008871	0	0
MACF1	23499	broad.mit.edu	37	1	39852864	39852864	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:39852864C>T	uc021olw.1	+	21	9670	c.9670C>T	c.(9670-9672)Cgc>Tgc	p.R3224C	MACF1_uc021ols.1_Missense_Mutation_p.R2722C|MACF1_uc001cdc.2_Missense_Mutation_p.R2701C|MACF1_uc021olt.1_Missense_Mutation_p.R2722C|MACF1_uc001cda.1_Missense_Mutation_p.R2609C	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	4789					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTCAGCCGATCGCATTAACAG	0.443000														122			60		0	0	0.003610	0	0
TPTE	7179	broad.mit.edu	37	21	10916373	10916373	+	Missense_Mutation	SNP	G	A	A	rs138794341	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:10916373G>A	uc002yip.1	-	19	1641	c.1273C>T	c.(1273-1275)Cct>Tct	p.P425S	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Missense_Mutation_p.P407S|TPTE_uc002yir.1_Missense_Mutation_p.P387S|TPTE_uc010gkv.1_Missense_Mutation_p.P287S	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	425	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.V424A(1)|p.V424F(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)		CACTTACGAGGAATCGAATAA	0.388000														51			13		0	0	0.001368	0	0
TLR7	51284	broad.mit.edu	37	X	12905587	12905587	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:12905587G>A	uc004cvc.3	+	2	2099	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	654					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AAAATTAGAGGAATTAGACAT	0.348000														24			45		0	0	0.002522	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	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														371			35		0	0	0.009718	0	0
FAT4	79633	broad.mit.edu	37	4	126412421	126412421	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:126412421C>T	uc003ifj.4	+	16	14444	c.14444C>T	c.(14443-14445)tCa>tTa	p.S4815L	FAT4_uc011cgp.2_Missense_Mutation_p.S3056L|FAT4_uc003ifi.1_Missense_Mutation_p.S2292L	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4815					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGGTCTTCTTCAGAGGAGGAC	0.507000														18			18		0	0	0.008871	0	0
TRAF1	7185	broad.mit.edu	37	9	123673735	123673735	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:123673735C>T	uc004bku.2	-	5	1334	c.762G>A	c.(760-762)gaG>gaA	p.E254E	TRAF1_uc011lyg.2_Silent_p.E132E|TRAF1_uc010mvl.2_Silent_p.E254E	NM_005658	NP_001177876	Q13077	TRAF1_HUMAN	Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA.	254					apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						GCAAGCTCTGCTCCAGCTTGC	0.607000														34			11		0	0	0.000978	0	0
OR2T1	26696	broad.mit.edu	37	1	248569979	248569979	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248569979C>T	uc010pzm.2	+	0	684	c.684C>T	c.(682-684)ttC>ttT	p.F228F		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCACTTCTTCTGTGAGGCAC	0.512000														44			13		0	0	0.002450	0	0
WDR69	164781	broad.mit.edu	37	2	228769694	228769694	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:228769694G>A	uc002vpn.1	+	7	777	c.698G>A	c.(697-699)aGa>aAa	p.R233K	WDR69_uc010zlw.1_Missense_Mutation_p.R218K|WDR69_uc002vpo.1_Non-coding_Transcript	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	Homo sapiens WD repeat domain 69 (WDR69), mRNA.	233										breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TCAGGAGACAGAATCATCACG	0.408000														76			38		0	0	0.003610	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83400549	83400549	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:83400549C>T	uc004eej.2	-	5	474	c.438G>A	c.(436-438)ggG>ggA	p.G146G	RPS6KA6_uc011mqt.2_Silent_p.G146G|RPS6KA6_uc011mqu.2_Silent_p.G43G|RPS6KA6_uc010nmo.1_Non-coding_Transcript	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	146	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AGTACAGTTTCCCTTCAGTCT	0.289000														5			7		0	0	0.001984	0	0
FAM47A	158724	broad.mit.edu	37	X	34149069	34149069	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:34149069C>T	uc004ddg.3	-	0	1379	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	443										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCACAACGATCCCATACGTCC	0.557000														8			19		0	0	0.008871	0	0
CREG2	200407	broad.mit.edu	37	2	102000125	102000125	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:102000125C>T	uc002tba.2	-	1	527	c.481G>A	c.(481-483)Gat>Aat	p.D161N		NM_153836	NP_722578	Q8IUH2	CREG2_HUMAN	Homo sapiens cellular repressor of E1A-stimulated genes 2 (CREG2), mRNA.	161						extracellular region	FMN binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AAGGGGCCATCACTGACGGGC	0.522000														64			23		0	0	0.004656	0	0
SLC38A3	10991	broad.mit.edu	37	3	50253047	50253047	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:50253047A>C	uc003cyn.4	+	5	583	c.442A>C	c.(442-444)Atc>Ctc	p.I148L	SLC38A3_uc011bdl.2_Missense_Mutation_p.I124L|SLC38A3_uc011bdm.2_Missense_Mutation_p.I80L	NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	149					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	AGCCCTGGCCATCACGCTCCA	0.632000														44			12		0	0	0.004007	0	0
HYDIN	54768	broad.mit.edu	37	16	71163701	71163701	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:71163701C>T	uc002ezr.3	-	8	1220	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	HYDIN_uc010cfz.2_Missense_Mutation_p.E102K|HYDIN_uc021tkq.1_Missense_Mutation_p.E357K|HYDIN_uc010vmc.2_Missense_Mutation_p.E374K|HYDIN_uc010vmd.2_Missense_Mutation_p.E384K|HYDIN_uc002ezw.4_Missense_Mutation_p.E374K	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	357										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)				TCATCCTTCTCCTCTTTGATC	0.438000														9			4		0	0	0.006214	0	0
CERS3	204219	broad.mit.edu	37	15	101031137	101031137	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:101031137C>T	uc002bwa.3	-	6	778	c.207_splice	c.e6-1	p.K69_splice	CERS3_uc002bvz.3_Splice_Site_p.K58_splice|CERS3_uc002bwb.3_Splice_Site_p.K58_splice	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	Homo sapiens ceramide synthase 3 (CERS3), mRNA.	58						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										AGCAACAAATCTACAAAAATA	0.308000														22			10		0	0	0.006214	0	0
C14orf102	55051	broad.mit.edu	37	14	90755487	90755487	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:90755487G>A	uc001xyi.2	-	10	2465	c.2232C>T	c.(2230-2232)gtC>gtT	p.V744V	C14orf102_uc010atp.1_Silent_p.V249V|C14orf102_uc001xyj.2_Silent_p.V513V	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	744							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		GGCACCAAATGACCTACAGGG	0.438000														82			45		0	0	0.009718	0	0
ESPNL	339768	broad.mit.edu	37	2	239038790	239038790	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:239038790C>T	uc002vxq.4	+	8	1545	c.1435C>T	c.(1435-1437)Ccc>Tcc	p.P479S	ESPNL_uc010fyw.3_Missense_Mutation_p.P175S	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	479								p.G478D(1)		endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GAGCTCAGGCCCCACGGAGCA	0.632000														14			4		0	0	0.000602	0	0
PRNT	149830	broad.mit.edu	37	20	4713232	4713232	+	RNA	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:4713232G>A	uc002wlb.3	-	1		c.792C>T			PRNT_uc010zqp.2_Non-coding_Transcript|PRNT_uc010zqq.2_Non-coding_Transcript					Homo sapiens prion protein (testis specific) (PRNT), transcript variant 2, non-coding RNA.											endometrium(2)|lung(5)	7						ctagagaagggaagtctgaaa	0.443000														14			10		0	0	0.000978	0	0
PTENP1	11191	broad.mit.edu	37	9	33676283	33676283	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:33676283G>A	uc003zth.4	-	0	1136	c.265C>T	c.(265-267)Cac>Tac	p.H89Y						Homo sapiens phosphatase and tensin homolog pseudogene 1 (PTENP1), non-coding RNA.																		GCTTTACAGTGAATTGCTGCA	0.388000														46			12		0	0	0.006122	0	0
DCLK3	85443	broad.mit.edu	37	3	36759619	36759619	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:36759619G>A	uc003cgi.2	-	3	2126	c.1635C>T	c.(1633-1635)atC>atT	p.I545I		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	545	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.I545I(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CACACAGCAGGATATAGAGGA	0.572000														89			48		0	0	0.003610	0	0
DRD1	1812	broad.mit.edu	37	5	174869920	174869920	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:174869920G>A	uc003mcz.3	-	1	1128	c.183C>T	c.(181-183)ttC>ttT	p.F61F	DRD1_uc021yia.1_Silent_p.F61F	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	61					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	AGATGACAAAGAAGTTGGTCA	0.582000														22			5		0	0	0.000602	0	0
RSBN1	54665	broad.mit.edu	37	1	114354713	114354713	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:114354713G>A	uc001edq.3	-	0	358	c.322C>T	c.(322-324)Cct>Tct	p.P108S	RSBN1_uc001edr.3_Non-coding_Transcript	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA.	108	Pro-rich.					nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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)		GGAGCGAGAGGGGGCTCCTGG	0.697000														13			5		0	0	0.001984	0	0
PWWP2B	170394	broad.mit.edu	37	10	134219344	134219344	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:134219344C>T	uc001lll.4	+	1	1369	c.1340C>T	c.(1339-1341)tCg>tTg	p.S447L	PWWP2B_uc009ybe.3_Missense_Mutation_p.S447L	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	447										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GGTGACCTCTCGCCTGGCCAC	0.697000														10			6		0	0	0.001168	0	0
PTF1A	256297	broad.mit.edu	37	10	23482809	23482809	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:23482809G>A	uc001irp.3	+	1	961	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K		NM_178161	NP_835455	Q7RTS3	PTF1A_HUMAN	Homo sapiens pancreas specific transcription factor, 1a (PTF1A), mRNA.	321					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CATAGAAAACGAACCACCATT	0.398000														99			25		0	0	0.007291	0	0
PTPRN	5798	broad.mit.edu	37	2	220168539	220168539	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:220168539C>T	uc002vkz.3	-	3	536	c.295G>A	c.(295-297)Gat>Aat	p.D99N	PTPRN_uc010zlc.2_Missense_Mutation_p.D9N|PTPRN_uc002vla.3_Missense_Mutation_p.D99N	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	99					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GTGAGGTCATCGTGCCAGGAC	0.577000														15			13		0	0	0.001368	0	0
PTPRB	5787	broad.mit.edu	37	12	70933413	70933413	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:70933413C>T	uc001swb.4	-	23	5146	c.5116G>A	c.(5116-5118)Gaa>Aaa	p.E1706K	PTPRB_uc010sto.2_Missense_Mutation_p.E1616K|PTPRB_uc010stp.2_Missense_Mutation_p.E1616K|PTPRB_uc001swc.4_Missense_Mutation_p.E1924K|PTPRB_uc001swa.4_Missense_Mutation_p.E1836K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1706	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACCTCGTATTCCTTGGATAGA	0.383000														4			5		0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179640842	179640842	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179640842G>A	uc021vsy.1	-	27	5974	c.5749C>T	c.(5749-5751)Cct>Tct	p.P1917S	TTN_uc021vsz.1_Missense_Mutation_p.P1871S|TTN_uc021vta.1_Missense_Mutation_p.P1871S|TTN_uc021vtb.1_Missense_Mutation_p.P1871S|TTN_uc002unb.2_Missense_Mutation_p.P1917S|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1917	Ig-like 9.						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)			ACACCTTCAGGATTTTCCGCG	0.453000														136			28		0	0	0.008361	0	0
OR4C15	81309	broad.mit.edu	37	11	55321940	55321940	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55321940G>A	uc010rig.2	+	0	158	c.158G>A	c.(157-159)gGa>gAa	p.G53E		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTTTCCTTGGGAAACATGCAA	0.358000										HNSCC(20;0.049)				83			29		0	0	0.002445	0	0
RIT2	6014	broad.mit.edu	37	18	40323459	40323459	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:40323459C>T	uc002lav.3	-	4	826	c.653G>A	c.(652-654)tGa>tAa	p.*218*	RIT2_uc010dnf.3_3'UTR	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	0					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding	p.T217A(1)		endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCAAAGATATCATGTCATATT	0.378000														37			28		0	0	0.005443	0	0
TTN	7273	broad.mit.edu	37	2	179584851	179584851	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179584851C>T	uc021vsy.1	-	77	20011	c.19786G>A	c.(19786-19788)Gaa>Aaa	p.E6596K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3257K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7523	Ig-like 47.						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)			CTGGTATTTTCACTCTCTCTG	0.433000														39			27		0	0	0.009535	0	0
SALL1	6299	broad.mit.edu	37	16	51172967	51172967	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:51172967G>A	uc021tif.1	-	1	3197	c.2875C>T	c.(2875-2877)Ctg>Ttg	p.L959L	SALL1_uc021tid.1_Silent_p.L959L|SALL1_uc021tie.1_Silent_p.L1056L|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1056					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGGATGGCAGATCTCGCATC	0.478000														23			12		0	0	0.000978	0	0
ASAP2	8853	broad.mit.edu	37	2	9517083	9517083	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:9517083G>T	uc002qzh.2	+	17	2133	c.1793G>T	c.(1792-1794)cGa>cTa	p.R598L	ASAP2_uc002qzi.2_Missense_Mutation_p.R598L	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	598					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TCCGTGGATCGAACCTCTCTT	0.448000														124			18		2.44723e-14	2.70041e-14	0.004656	1	0
GGH	8836	broad.mit.edu	37	8	63927919	63927919	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:63927919G>A	uc003xuw.3	-	8	1212	c.929C>T	c.(928-930)tCa>tTa	p.S310L		NM_003878	NP_003869	Q92820	GGH_HUMAN	Homo sapiens gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) (GGH), mRNA.	310	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	TTGCTGAAATGAAGAAATATT	0.303000														23			4		0	0	0.000602	0	0
ASPRV1	151516	broad.mit.edu	37	2	70188488	70188488	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:70188488G>A	uc002sfz.4	-	0	910	c.333C>T	c.(331-333)gtC>gtT	p.V111V		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	Homo sapiens aspartic peptidase, retroviral-like 1 (ASPRV1), mRNA.	111					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						GGTTTGGGACGACATTGGCCC	0.572000														39			24		0	0	0.005443	0	0
FAM59A	64762	broad.mit.edu	37	18	29868073	29868073	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:29868073G>A	uc002kxl.3	-	3	543	c.487C>T	c.(487-489)Ctt>Ttt	p.L163F	FAM59A_uc002kxk.2_Missense_Mutation_p.L163F	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	163	CABIT.							p.I162I(1)		endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						TTTGCATAAAGGATTTCTGCC	0.428000														40			12		0	0	0.001368	0	0
MCM3	4172	broad.mit.edu	37	6	52141185	52141185	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:52141185G>A	uc003pan.1	-	8	1365	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	MCM3_uc011dwu.1_Missense_Mutation_p.R373C	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	419	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					ATGGCTGTGCGATCCATGTCA	0.567000														23			4		0	0	0.009096	0	0
MPL	4352	broad.mit.edu	37	1	43812583	43812583	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:43812583G>A	uc001ciw.3	+	7	1331	c.1286G>A	c.(1285-1287)gGa>gAa	p.G429E	MPL_uc001civ.3_Missense_Mutation_p.G429E|MPL_uc009vwr.3_Missense_Mutation_p.G422E	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	429	Fibronectin type-III 2.				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGATACACAGGAGAAGGCCAT	0.562000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia							43			22		0	0	0.002299	0	0
GRID2	2895	broad.mit.edu	37	4	94006276	94006276	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:94006276G>A	uc011cdt.2	+	2	633	c.375G>A	c.(373-375)ggG>ggA	p.G125G	GRID2_uc010ikx.3_Silent_p.G125G|GRID2_uc011cdu.2_Intron|GRID2_uc011cdv.1_Non-coding_Transcript	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	125					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CAACAGCTGGGACCCCAAGGA	0.557000														22			23		0	0	0.003330	0	0
CRB1	23418	broad.mit.edu	37	1	197390629	197390629	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:197390629C>T	uc001gtz.3	+	5	1880	c.1671C>T	c.(1669-1671)ttC>ttT	p.F557F	CRB1_uc010poz.2_Silent_p.F488F|CRB1_uc009wza.3_Silent_p.F445F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.F557F|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.F38F|CRB1_uc001gub.1_Silent_p.F206F	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	557	Laminin G-like 1.				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						TGCTTCTGTTCATTTCCCACA	0.448000														83			38		0	0	0.002852	0	0
VCAN	1462	broad.mit.edu	37	5	82833764	82833764	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:82833764G>T	uc003kii.3	+	7	5298	c.4942G>T	c.(4942-4944)Gat>Tat	p.D1648Y	VCAN_uc003kij.3_Missense_Mutation_p.D661Y|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.D312Y	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1648	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGCAGAAGAAGATGAAGATAC	0.398000														20			11		3.86212e-05	4.22419e-05	0.008291	1	0
PHF21B	112885	broad.mit.edu	37	22	45309846	45309846	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:45309846G>A	uc003bfn.3	-	4	838	c.687C>T	c.(685-687)ttC>ttT	p.F229F	PHF21B_uc011aqk.2_Intron|PHF21B_uc003bfm.3_Intron|PHF21B_uc011aql.2_Intron|PHF21B_uc011aqm.1_Intron	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	229							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)		TGATGACCTGGAAGATGCCAT	0.647000														45			43		0	0	0.009718	0	0
L2HGDH	79944	broad.mit.edu	37	14	50732104	50732104	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:50732104G>A	uc001wxu.3	-	8	1247	c.1168C>T	c.(1168-1170)Cct>Tct	p.P390S	L2HGDH_uc010tqn.2_Missense_Mutation_p.P390S|L2HGDH_uc010tqo.1_Missense_Mutation_p.P390S	NM_024884	NP_079160	Q9H9P8	L2HDH_HUMAN	Homo sapiens L-2-hydroxyglutarate dehydrogenase (L2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	390					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					GTAATTTCAGGGATGAATTTT	0.373000														29			5		0	0	0.000602	0	0
OR4D10	390197	broad.mit.edu	37	11	59244992	59244992	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:59244992C>T	uc001nnz.1	+	0	90	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TATTTCTTTTCCTACTCTTGG	0.438000														89			22		0	0	0.002299	0	0
LRP1	4035	broad.mit.edu	37	12	57589508	57589508	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:57589508C>T	uc001snd.3	+	52	8971	c.8505C>T	c.(8503-8505)ttC>ttT	p.F2835F		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2835	LDL-receptor class A 18.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAAGCACTTCGTGTGTGACC	0.622000														32			10		0	0	0.008291	0	0
LRP5	4041	broad.mit.edu	37	11	68125224	68125224	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:68125224G>A	uc001ont.3	+	2	670	c.595G>A	c.(595-597)Gga>Aga	p.G199R	LRP5_uc009ysg.3_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	199	Beta-propeller 1.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGGCCCAATGGACTGACCAT	0.602000														21			17		0	0	0.004007	0	0
KCNT1	57582	broad.mit.edu	37	9	138683979	138683979	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:138683979C>T	uc011mdq.2	+	30	3754	c.3680C>T	c.(3679-3681)cCc>cTc	p.P1227L	KCNT1_uc011mdr.2_Missense_Mutation_p.P1075L|KCNT1_uc010nbf.3_Missense_Mutation_p.P1203L	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	1227						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCCTGCAACCCCGAGACTCGC	0.667000														11			5		0	0	0.000602	0	0
SH3RF3	344558	broad.mit.edu	37	2	110049065	110049065	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:110049065G>A	uc010ywt.1	+	5	1512	c.1512G>A	c.(1510-1512)ggG>ggA	p.G504G		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.	504	SH3 3.						zinc ion binding	p.K503N(1)		endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GGTTCAAGGGGGCGTCTCTGA	0.622000														13			6		0	0	0.001984	0	0
VPS41	27072	broad.mit.edu	37	7	38768147	38768147	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:38768147G>A	uc003tgy.3	-	26	2425	c.2399C>T	c.(2398-2400)cCa>cTa	p.P800L	VPS41_uc003tgz.3_Missense_Mutation_p.P775L|VPS41_uc010kxn.3_Missense_Mutation_p.P711L|VPS41_uc003tgx.3_Non-coding_Transcript	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	800					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CTTACCTGATGGAAGAATAGG	0.373000														52			21		0	0	0.003954	0	0
RBP3	5949	broad.mit.edu	37	10	48390152	48390152	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:48390152G>A	uc001jez.3	-	0	840	c.726C>T	c.(724-726)atC>atT	p.I242I		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	242	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGATGTGCGCGATGTCCTCGG	0.647000														20			7		0	0	0.003080	0	0
TEKT4	150483	broad.mit.edu	37	2	95540641	95540641	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:95540641C>T	uc002stw.1	+	3	927	c.834C>T	c.(832-834)tcC>tcT	p.S278S	LOC442028_uc021vlc.1_Intron|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	278					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCGACACCTCCGAGGACCTGC	0.682000														15			3		0	0	0.004672	0	0
GLRA3	8001	broad.mit.edu	37	4	175598361	175598361	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:175598361G>A	uc003ity.1	-	6	1298	c.795C>T	c.(793-795)ctC>ctT	p.L265L	GLRA3_uc003itz.1_Silent_p.L265L	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	265					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	TAACAATCAGGAGACTGGGAA	0.458000														11			9		0	0	0.004482	0	0
EGFR	1956	broad.mit.edu	37	7	55259426	55259426	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:55259426G>A	uc003tqk.3	+	20	2730	c.2484G>A	c.(2482-2484)ttG>ttA	p.L828L	EGFR_uc022adm.1_Silent_p.L828L|EGFR_uc010kzg.2_Silent_p.L783L|EGFR_uc022adn.1_Silent_p.L783L|EGFR_uc011kco.2_Silent_p.L775L|AK123474_uc003tqo.3_5'Flank|EGFR_uc022ado.1_Silent_p.L63L	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	828	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.Y827Y(1)|p.Y827_R832del(1)|p.L828M(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGAACTACTTGGAGGACCGTC	0.542000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				60			14		0	0	0.004007	0	0
FLNA	2316	broad.mit.edu	37	X	153581488	153581488	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:153581488G>A	uc004fkk.2	-	37	6356	c.6107C>T	c.(6106-6108)cCg>cTg	p.P2036L	FLNA_uc011mzn.1_Missense_Mutation_p.P169L|FLNA_uc010nuu.1_Missense_Mutation_p.P2028L	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	2036					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GATCACCACCGGGATGGGGCT	0.587000														8			24		0	0	0.003330	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518865	113518865	+	Missense_Mutation	SNP	C	T	T	rs62001880	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:113518865C>T	uc010ljy.1	-	3	2313	c.2282G>A	c.(2281-2283)cGa>cAa	p.R761Q		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	761					glycogen metabolic process	integral to membrane		p.R761Q(2)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCTGTCACTTCGTGCTGTCTC	0.413000														57			29		0	0	0.002445	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21242995	21242995	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:21242995C>T	uc010sil.2	+	15	2267	c.2202C>T	c.(2200-2202)ttC>ttT	p.F734F	SLCO1B3_uc010sim.2_Silent_p.F673F|SLCO1B3_uc010sin.2_Silent_p.F626F			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	673					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ACTTAGAATTCTTAAACGACA	0.308000														9			12		0	0	0.000978	0	0
TNC	3371	broad.mit.edu	37	9	117786291	117786291	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:117786291G>A	uc004bjj.4	-	26	6868	c.6456C>T	c.(6454-6456)gtC>gtT	p.V2152V	TNC_uc010mvf.3_Silent_p.V1879V	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	2152	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCATCAGGTTGACACGGTGAC	0.547000														50			34		0	0	0.002445	0	0
ARFGAP1	55738	broad.mit.edu	37	20	61908620	61908621	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:61908620_61908621CC>AT	uc002yem.3	+	4	518_519	c.406_407CC>AT	c.(406-408)cca>ATa	p.P136I	ARFGAP1_uc011aas.1_Missense_Mutation_p.P83I|ARFGAP1_uc011aat.1_Intron|ARFGAP1_uc002yel.3_Missense_Mutation_p.P136I|ARFGAP1_uc002yen.3_Missense_Mutation_p.P136I	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 1 (ARFGAP1), transcript variant 1, mRNA.	136					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	Golgi-associated vesicle membrane|cytosol	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GAACTGGACCCCACCTCAGCCC	0.584000														26			6		0	0	0.004672	0	0
CANT1	124583	broad.mit.edu	37	17	76993403	76993403	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:76993403G>A	uc002jwj.3	-	1	797	c.302C>T	c.(301-303)gCt>gTt	p.A101V	CANT1_uc002jwn.3_Missense_Mutation_p.A101V|CANT1_uc002jwk.3_Missense_Mutation_p.A101V|CANT1_uc002jwl.2_Non-coding_Transcript	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.	101					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CCGAATCCCAGCCGGTGTCCT	0.582000			T	ETV4	prostate									59			134		0	0	0.003610	0	0
COL21A1	81578	broad.mit.edu	37	6	56044403	56044403	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:56044403C>T	uc003pcs.3	-	2	845	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.E205K|COL21A1_uc003pcu.1_Missense_Mutation_p.E205K	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	205	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTCATCACTTCCCTTATTTTG	0.323000														31			7		0	0	0.004482	0	0
abParts	0	broad.mit.edu	37	14	107199186	107199186	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:107199186C>T	uc021ser.1	-	16		c.1503G>A								Parts of antibodies, mostly variable regions.																		CTCAGGGACCCTCCAGGCTGG	0.597000														40			23		0	0	0.002299	0	0
TEX15	56154	broad.mit.edu	37	8	30699863	30699863	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:30699863C>T	uc003xil.3	-	0	6671	c.6671G>A	c.(6670-6672)gGa>gAa	p.G2224E		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2224										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GGCCATTTTTCCTAAATCTTT	0.348000														52			27		0	0	0.002096	0	0
FGL2	10875	broad.mit.edu	37	7	76825985	76825985	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:76825985C>T	uc003ugb.3	-	1	971	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	311	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						GCATATAGTTCGACACCATTA	0.383000														55			22		0	0	0.002780	0	0
PAPPA2	60676	broad.mit.edu	37	1	176640163	176640163	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:176640163C>T	uc001gkz.3	+	3	3213	c.2049C>T	c.(2047-2049)ttC>ttT	p.F683F	PAPPA2_uc001gky.1_Silent_p.F683F|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	683	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.F683I(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTACTCACTTCCTCAACATCT	0.512000														174			39		0	0	0.006999	0	0
FREM1	158326	broad.mit.edu	37	9	14789061	14789061	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:14789061C>T	uc003zlm.3	-	23	4849	c.4033G>A	c.(4033-4035)Gaa>Aaa	p.E1345K	FREM1_uc010mic.3_Intron	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1345					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGATCCACTTCCTCCTGAGTG	0.507000														4			6		0	0	0.001168	0	0
GRM1	2911	broad.mit.edu	37	6	146351223	146351223	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:146351223C>T	uc010khw.1	+	1	1040	c.570C>T	c.(568-570)atC>atT	p.I190I	GRM1_uc010khu.1_Silent_p.I190I|GRM1_uc010khv.1_Silent_p.I190I|GRM1_uc003qll.2_Silent_p.I190I|GRM1_uc011edz.1_Silent_p.I190I|GRM1_uc011eea.1_Silent_p.I190I	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	190					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.S189N(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCACAAGCATCGACCTGAGTG	0.507000														54			26		0	0	0.008361	0	0
HSPB7	27129	broad.mit.edu	37	1	16343579	16343579	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:16343579C>T	uc001axr.2	-	1	1165	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	HSPB7_uc001axo.2_Missense_Mutation_p.R108Q|HSPB7_uc001axp.2_Intron|HSPB7_uc001axq.2_Missense_Mutation_p.R200Q|HSPB7_uc001axs.2_Missense_Mutation_p.R183Q|CLCNKA_uc001axt.3_5'Flank	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN	Homo sapiens heat shock 27kDa protein family, member 7 (cardiovascular) (HSPB7), mRNA.	108					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCTCAGCCCGCACCTCGAT	0.567000														78			33		0	0	0.002445	0	0
FOLH1	2346	broad.mit.edu	37	11	49204776	49204777	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:49204776_49204777CC>TT	uc001ngy.3	-	6	1105_1106	c.844_845GG>AA	c.(844-846)gga>AAa	p.G282K	FOLH1_uc009yly.3_Missense_Mutation_p.G267K|FOLH1_uc009ylz.3_Missense_Mutation_p.G267K|FOLH1_uc001ngz.3_Missense_Mutation_p.G282K|FOLH1_uc009yma.3_5'UTR	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	282	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.R281L(1)|p.R281C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CTCTGCAATTCCACGCCTATAA	0.351000														86			9		0	0	0.004672	0	0
HYAL4	23553	broad.mit.edu	37	7	123516852	123516852	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:123516852G>A	uc003vlc.3	+	4	1727	c.1089G>A	c.(1087-1089)ggG>ggA	p.G363G	HYAL4_uc011knz.2_3'UTR	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	363					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CTGATTTAGGGAGCTACATAG	0.458000														50			9		0	0	0.008291	0	0
SDK1	221935	broad.mit.edu	37	7	3990647	3990647	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:3990647G>A	uc003smx.3	+	5	1079	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	314	Ig-like C2-type 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GACCACCTTGGAATGTATAGC	0.547000														26			17		0	0	0.007413	0	0
SLC22A11	55867	broad.mit.edu	37	11	64326681	64326681	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:64326681C>T	uc001oai.3	+	1	842	c.468C>T	c.(466-468)ggC>ggT	p.G156G	SLC22A11_uc001oah.1_Intron|SLC22A11_uc009ypq.3_Silent_p.G156G|SLC22A11_uc001oak.1_5'Flank	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	156					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TCCTGGTGGGCTCCTTTATCT	0.602000														47			27		0	0	0.008361	0	0
CPAMD8	27151	broad.mit.edu	37	19	17091331	17091331	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:17091331G>A	uc002nfb.3	-	13	1734	c.1702C>T	c.(1702-1704)Cgt>Tgt	p.R568C		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	521						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						TGTGTTAAACGAATCGGTTTC	0.592000														62			17		0	0	0.006122	0	0
PLCG2	5336	broad.mit.edu	37	16	81888096	81888096	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:81888096G>A	uc002fgt.3	+	2	419	c.241G>A	c.(241-243)Gat>Aat	p.D81N	PLCG2_uc010chg.1_Missense_Mutation_p.D81N	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	81	PH.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GAACTCCAAAGATTTCGAGCG	0.468000														62			24		0	0	0.003954	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276849	71276849	+	Silent	SNP	G	A	A	rs36179995		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:71276849G>A	uc001oqt.1	+	0	241	c.216G>A	c.(214-216)ggG>ggA	p.G72G		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	72	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTCCAAGGGGGACTGTGGCT	0.677000														93			65		0	0	0.003610	0	0
SNRPN	6638	broad.mit.edu	37	15	25207265	25207265	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:25207265C>T	uc001ywu.3	+	1	145	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C	SNRPN_uc001ywp.1_5'UTR|SNRPN_uc001ywq.1_5'UTR|SNRPN_uc001ywr.1_5'UTR|SNRPN_uc001yws.1_5'UTR|SNRPN_uc001ywt.1_5'UTR|SNRPN_uc001ywy.1_5'UTR|SNRPN_uc001ywz.1_Non-coding_Transcript|SNRPN_uc001yxa.1_Non-coding_Transcript|SNRPN_uc021sga.1_5'UTR	NM_022804	NP_073715	P63162	RSMN_HUMAN	Homo sapiens SNRPN upstream reading frame (SNURF), transcript variant 2, mRNA.	0					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding	p.R7G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TTTCAGGGATCGCTTACACCT	0.403000									Prader-Willi syndrome					25			10		0	0	0.008291	0	0
MUC16	94025	broad.mit.edu	37	19	9075414	9075414	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	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														33			20		0	0	0.007413	0	0
AMPH	273	broad.mit.edu	37	7	38500990	38500990	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:38500990G>A	uc003tgu.3	-	10	1126	c.910C>T	c.(910-912)Cca>Tca	p.P304S	AMPH_uc003tgv.3_Missense_Mutation_p.P304S|AMPH_uc003tgt.3_Missense_Mutation_p.P57S	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	304					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GGTAGAGGTGGGACAGGAGGC	0.448000														84			42		0	0	0.003610	0	0
HECW2	57520	broad.mit.edu	37	2	197182092	197182092	+	Splice_Site	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:197182092A>G	uc002utm.1	-	10	2522	c.2339_splice	c.e10-1	p.G780_splice	HECW2_uc002utl.1_Splice_Site_p.G424_splice	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	780	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TGGCTTGAGAACCTAGGATTA	0.473000														7			4		0	0	0.009096	0	0
SELP	6403	broad.mit.edu	37	1	169586518	169586518	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:169586518C>T	uc001ggi.4	-	2	294	c.229G>A	c.(229-231)Gat>Aat	p.D77N	SELP_uc001ggh.3_5'UTR|SELP_uc009wvr.3_Missense_Mutation_p.D77N	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	77	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TTGAGGTAATCAATTTCATTT	0.408000														105			33		0	0	0.003755	0	0
CYP4F12	66002	broad.mit.edu	37	19	15793264	15793264	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15793264C>T	uc002nbl.3	+	5	710	c.591C>T	c.(589-591)ctC>ctT	p.L197L		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)					ACATCAGCCTCATGACCTTGG	0.532000														55			26		0	0	0.002445	0	0
MTMR8	55613	broad.mit.edu	37	X	63444921	63444921	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:63444921C>T	uc011mou.2	-	9	1825	c.1735G>A	c.(1735-1737)Ggg>Agg	p.G579R	MTMR8_uc004dvq.2_Missense_Mutation_p.G195R|MTMR8_uc004dvr.2_Missense_Mutation_p.G204R	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	605						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GGGTCTGCCCCGTGGAGCAAA	0.562000														4			9		0	0	0.008291	0	0
TECTA	7007	broad.mit.edu	37	11	121061511	121061511	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:121061511C>T	uc010rzo.2	+	22	6464	c.6464C>T	c.(6463-6465)tCa>tTa	p.S2155L		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	2155					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.T2154N(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGCACGACCTCATAATTAACT	0.358000														15			5		0	0	0.000602	0	0
ANGEL1	23357	broad.mit.edu	37	14	77257025	77257025	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:77257025G>A	uc001xsv.3	-	8	1894	c.1781C>T	c.(1780-1782)cCa>cTa	p.P594L		NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA.	594										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		AAGACCCAATGGCATTGTAGT	0.532000														24			24		0	0	0.002780	0	0
NCAM2	4685	broad.mit.edu	37	21	22841002	22841002	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:22841002C>T	uc002yld.2	+	13	2043	c.1794C>T	c.(1792-1794)tcC>tcT	p.S598S	NCAM2_uc011acb.2_Silent_p.S456S	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	598	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GTCCTCCATCCATACATGGAC	0.368000														11			15		0	0	0.008871	0	0
IRAK2	3656	broad.mit.edu	37	3	10255055	10255055	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:10255055G>A	uc003bve.1	+	4	769	c.693G>A	c.(691-693)ggG>ggA	p.G231G		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	231	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						ACAGGCACGGGAAGCCATTCG	0.557000														41			21		0	0	0.008871	0	0
OR51L1	119682	broad.mit.edu	37	11	5021147	5021147	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5021147G>A	uc010qyu.2	+	0	935	c.935G>A	c.(934-936)aGg>aAg	p.R312K		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L311L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTTGTCCTAAGGAGGAGGTTT	0.403000														27			16		0	0	0.004990	0	0
OR52I2	143502	broad.mit.edu	37	11	4608104	4608104	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4608104A>T	uc010qyh.2	+	0	84	c.62A>T	c.(61-63)aAa>aTa	p.K21I		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTAACAGGAAAAAAGTCTCA	0.448000														61			21		0	0	0.001882	0	0
HHIPL2	79802	broad.mit.edu	37	1	222715384	222715384	+	Missense_Mutation	SNP	G	A	A	rs146335870		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:222715384G>A	uc001hnh.1	-	2	1146	c.1088C>T	c.(1087-1089)cCc>cTc	p.P363L		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	363					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CAGGCCAAAGGGATCTCCAGC	0.527000														271			140		0	0	0.003610	0	0
RYR2	6262	broad.mit.edu	37	1	237791306	237791306	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:237791306C>T	uc001hyl.1	+	40	6486	c.6366C>T	c.(6364-6366)tcC>tcT	p.S2122S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2122	4 X approximate repeats.				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)			TGCTGGCATCCCTTGGTCAGA	0.498000														28			22		0	0	0.003330	0	0
TTBK2	146057	broad.mit.edu	37	15	43075673	43075673	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:43075673C>T	uc001zqo.2	-	10	1580	c.1141G>A	c.(1141-1143)Gat>Aat	p.D381N	TTBK2_uc010bcy.2_Missense_Mutation_p.D312N|TTBK2_uc001zqp.3_Missense_Mutation_p.D381N	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	381					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TCCCAAACATCCTTCTCCTGG	0.428000														209			59		0	0	0.003610	0	0
HYDIN	54768	broad.mit.edu	37	16	71012908	71012908	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:71012908C>T	uc002ezr.3	-	29	4695	c.4544G>A	c.(4543-4545)aGg>aAg	p.R1515K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1516										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)				TGTGTTTTTCCTGGCTTGATT	0.428000														22			7		0	0	0.004482	0	0
ZNF701	55762	broad.mit.edu	37	19	53085707	53085707	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:53085707G>A	uc010ydn.2	+	4	656	c.593G>A	c.(592-594)gGa>gAa	p.G198E	ZNF701_uc002pzs.2_Missense_Mutation_p.G132E|ZNF701_uc021uyw.1_Missense_Mutation_p.G198E	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AGGCATGCTGGAAACAAACCT	0.398000														64			32		0	0	0.003755	0	0
GABRP	2568	broad.mit.edu	37	5	170235728	170235728	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:170235728C>T	uc003mau.3	+	7	1002	c.804C>T	c.(802-804)ctC>ctT	p.L268L	GABRP_uc011dev.2_Silent_p.L268L	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	268						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGATCTCTCTCGATTCAGTCC	0.423000														34			4		0	0	0.009096	0	0
PTPRD	5789	broad.mit.edu	37	9	8331682	8331682	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:8331682C>T	uc003zkk.3	-	43	6177	c.5434G>A	c.(5434-5436)Gga>Aga	p.G1812R	PTPRD_uc003zkp.3_Missense_Mutation_p.G1406R|PTPRD_uc003zkq.3_Missense_Mutation_p.G1405R|PTPRD_uc003zkr.3_Missense_Mutation_p.G1396R|PTPRD_uc003zks.3_Missense_Mutation_p.G1405R|PTPRD_uc022bdj.1_Missense_Mutation_p.G1402R	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1812	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTTGGCACTCCTTGCTCTGGC	0.512000										TSP Lung(15;0.13)				69			14		0	0	0.004007	0	0
SSPO	23145	broad.mit.edu	37	7	149483309	149483309	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:149483309G>A	uc010lpk.3	+	22	3377	c.3377G>A	c.(3376-3378)gGa>gAa	p.G1126E	SSPO_uc010lpl.1_Missense_Mutation_p.G376E	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1126	VWFD 3.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTCTGGGATGGAGATCAGGCC	0.637000														7			4		0	0	0.001168	0	0
DNAH7	56171	broad.mit.edu	37	2	196651834	196651834	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:196651834C>T	uc002utj.4	-	57	10879	c.10778G>A	c.(10777-10779)cGg>cAg	p.R3593Q	DNAH7_uc002uti.4_Missense_Mutation_p.R76Q	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3593	AAA 6 (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						TCCAAATTTCCGTCTTTCTTG	0.413000														37			22		0	0	0.001882	0	0
CCBP2	1238	broad.mit.edu	37	3	42906396	42906396	+	Silent	SNP	C	T	T	rs146152018		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:42906396C>T	uc003cme.3	+	2	580	c.402C>T	c.(400-402)ttC>ttT	p.F134F	CCBP2_uc003cmf.3_Silent_p.F134F|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.F134F	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	134					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity	p.F134F(2)|p.F133L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		GCATCTTTTTCATTAGCTGCA	0.517000														129			34		0	0	0.007835	0	0
MYO9A	4649	broad.mit.edu	37	15	72122637	72122637	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:72122637G>A	uc002atl.4	-	39	7326	c.6853C>T	c.(6853-6855)Cgt>Tgt	p.R2285C	MYO9A_uc002atk.3_Missense_Mutation_p.R1080C	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	2285	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity	p.R2285C(4)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTCCTCGACGAATACGCCCC	0.443000														20			14		0	0	0.003163	0	0
NFIX	4784	broad.mit.edu	37	19	13192533	13192533	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:13192533C>T	uc010xmx.2	+	7	1195	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F	NFIX_uc002mwd.3_Missense_Mutation_p.S373F|NFIX_uc002mwe.3_Missense_Mutation_p.S365F|NFIX_uc002mwf.3_Missense_Mutation_p.S335F|NFIX_uc002mwg.2_Missense_Mutation_p.S372F			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	373					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CACTTCCCCTCCACGTCCATC	0.632000														18			17		0	0	0.006122	0	0
ADNP	23394	broad.mit.edu	37	20	49509502	49509502	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:49509502G>A	uc002xvt.1	-	4	2094	c.1749C>T	c.(1747-1749)gcC>gcT	p.A583A	ADNP_uc002xvu.1_Silent_p.A583A	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	583						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GATTATTTTGGGCATGGTAAG	0.453000														83			37		0	0	0.004878	0	0
BTNL3	10917	broad.mit.edu	37	5	180432455	180432455	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:180432455G>C	uc003mmr.3	+	7	1168	c.984G>C	c.(982-984)aaG>aaC	p.K328N	BTNL3_uc010jlp.3_Missense_Mutation_p.K113N	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	328	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TTACAAGGAAGAGTGTGGTGG	0.517000														52			15		0	0	0.004007	0	0
U2AF2	11338	broad.mit.edu	37	19	56173923	56173923	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:56173923C>T	uc002qlu.3	+	5	1597	c.542C>T	c.(541-543)gCc>gTc	p.A181V	U2AF2_uc002qlt.3_Missense_Mutation_p.A181V	NM_007279	NP_009210	P26368	U2AF2_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA.	181	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	RNA binding|enzyme binding|nucleotide binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CTGACCCAGGCCCCTGGCAAC	0.597000														72			11		0	0	0.000978	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140712038	140712038	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140712038G>A	uc003lji.2	+	0	1787	c.1787G>A	c.(1786-1788)aGa>aAa	p.R596K	PCDHGC5_uc011dan.2_Missense_Mutation_p.R596K	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	597	Cadherin 6.				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)			GCGGTGGACAGAGACTCGGGC	0.697000														34			6		0	0	0.001168	0	0
NME8	51314	broad.mit.edu	37	7	37916527	37916527	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:37916527C>T	uc003tfn.3	+	11	1284	c.912C>T	c.(910-912)ttC>ttT	p.F304F		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	304					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										ATGCTTTCTTCCCCGATTTTA	0.358000														22			10		0	0	0.006214	0	0
NUP210L	91181	broad.mit.edu	37	1	154091221	154091221	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:154091221G>A	uc001fdw.3	-	10	1462	c.1390C>T	c.(1390-1392)Ccc>Tcc	p.P464S	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.P464S	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	464						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGCATGATGGGAAAATAAATC	0.323000														114			41		0	0	0.006999	0	0
ZAN	7455	broad.mit.edu	37	7	100349948	100349948	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100349948C>T	uc003uwj.3	+	13	2385	c.2220C>T	c.(2218-2220)acC>acT	p.T740T	ZAN_uc003uwk.3_Silent_p.T740T|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.	740	66 X heptapeptide repeats (approximate) (mucin-like domain).				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)			AACCCACCACCCCCACAGAAA	0.517000														30			8		0	0	0.003080	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688885	26688885	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:26688885C>T	uc003acb.3	+	1	804	c.608C>T	c.(607-609)tCc>tTc	p.S203F	SEZ6L_uc003acd.3_Missense_Mutation_p.S203F|SEZ6L_uc011akd.2_Missense_Mutation_p.S203F|SEZ6L_uc003ace.3_Missense_Mutation_p.S203F|SEZ6L_uc011akc.2_Missense_Mutation_p.S203F|SEZ6L_uc003acc.3_Missense_Mutation_p.S203F|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	203						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTGCAAATCTCCCCCTTCACT	0.667000														81			16		0	0	0.006122	0	0
ALOX12B	242	broad.mit.edu	37	17	7979644	7979644	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:7979644C>T	uc002gjy.1	-	10	1642	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K		NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	461	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GCAAAGCCTTCCACGCCCAGG	0.617000										Multiple Myeloma(8;0.094)				5			3		0	0	0.004672	0	0
OR2M4	26245	broad.mit.edu	37	1	248402372	248402372	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248402372C>T	uc010pzh.2	+	0	142	c.142C>T	c.(142-144)Ctc>Ttc	p.L48F		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATGGTTCTCCTCATCTACAT	0.483000														69			37		0	0	0.006999	0	0
MYO3A	53904	broad.mit.edu	37	10	26465757	26465757	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:26465757C>T	uc001isn.2	+	30	4781	c.4421C>T	c.(4420-4422)tCt>tTt	p.S1474F	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1474					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CGAGTTTCTTCTCAGCAGTGC	0.373000														30			8		0	0	0.008291	0	0
HRNR	388697	broad.mit.edu	37	1	152187486	152187486	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152187486G>A	uc001ezt.1	-	2	6695	c.6619C>T	c.(6619-6621)Cgt>Tgt	p.R2207C		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2207					keratinization		calcium ion binding|protein binding	p.R2207C(2)		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)			CTGGAAGAACGACCTGAGCCA	0.602000														444			33		0	0	0.003610	0	0
SEMA6C	10500	broad.mit.edu	37	1	151108594	151108594	+	Silent	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:151108594A>C	uc001ewv.3	-	12	1488	c.1152T>G	c.(1150-1152)tcT>tcG	p.S384S	SEMA6C_uc001ewu.3_Silent_p.S384S|SEMA6C_uc001eww.3_Silent_p.S344S	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	384	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGTCTCGGGAAGAGGAGAACA	0.587000														39			15		0	0	0.007413	0	0
ACSBG2	81616	broad.mit.edu	37	19	6147520	6147520	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:6147520G>A	uc002mef.1	+	2	358	c.131G>A	c.(130-132)gGa>gAa	p.G44E	ACSBG2_uc002mee.1_5'UTR|ACSBG2_uc002meg.1_Missense_Mutation_p.G44E|ACSBG2_uc002meh.1_Missense_Mutation_p.G44E|ACSBG2_uc002mei.1_5'UTR|ACSBG2_uc010xiz.1_Missense_Mutation_p.G44E	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	44					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCAAACACGGACCAGGCCAT	0.498000														87			37		0	0	0.005524	0	0
PAPPA	5069	broad.mit.edu	37	9	118969825	118969825	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:118969825G>A	uc004bjn.3	+	2	1950	c.1569G>A	c.(1567-1569)gaG>gaA	p.E523E	PAPPA_uc011lxp.1_Silent_p.E316E|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	523	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCTCAGAGGAGGAGTTGGCAG	0.443000														30			10		0	0	0.006214	0	0
CPN1	1369	broad.mit.edu	37	10	101816839	101816839	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:101816839A>T	uc001kql.2	-	5	1202	c.942T>A	c.(940-942)ttT>ttA	p.F314L		NM_001308	NP_001299	P15169	CBPN_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.	314	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CTTCGGGGGGAAACTTGTCGC	0.473000														130			41		0	0	0.003610	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60017110	60017110	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:60017110G>A	uc002lin.3	+	2	261	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	TNFRSF11A_uc010dpv.3_Missense_Mutation_p.E75K	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	75					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of fever generation by positive regulation of prostaglandin secretion|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TGGCCCGGATGAATACTTGGA	0.428000														87			28		0	0	0.006320	0	0
NAALAD2	10003	broad.mit.edu	37	11	89903266	89903266	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:89903266C>T	uc001pdf.4	+	12	1481	c.1372C>T	c.(1372-1374)Ccc>Tcc	p.P458S	NAALAD2_uc009yvx.3_Missense_Mutation_p.P425S|NAALAD2_uc009yvy.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	458	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGACTGTACTCCCCTTCTTTA	0.294000														94			11		0	0	0.002450	0	0
FNDC1	84624	broad.mit.edu	37	6	159644651	159644651	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:159644651A>T	uc010kjv.3	+	6	1058	c.858A>T	c.(856-858)gaA>gaT	p.E286D	FNDC1_uc010kjw.1_Missense_Mutation_p.E234D	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	286	Fibronectin type-III 3.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTGTTCTGGAAAAACAGAAGA	0.408000														25			10		0	0	0.006214	0	0
GJB5	2709	broad.mit.edu	37	1	35223590	35223590	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:35223590G>A	uc001bxu.3	+	1	759	c.659G>A	c.(658-660)aGg>aAg	p.R220K	GJB5_uc021okz.1_Missense_Mutation_p.R220K|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	220					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				CTGGCAGCAAGGAAAGCTCAA	0.567000														52			10		0	0	0.008291	0	0
DCTN1	1639	broad.mit.edu	37	2	74598741	74598741	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:74598741G>A	uc002skx.3	-	7	886	c.568C>T	c.(568-570)Ccg>Tcg	p.P190S	DCTN1_uc002skv.3_Missense_Mutation_p.P56S|DCTN1_uc002sku.3_Missense_Mutation_p.P56S|DCTN1_uc002skw.2_Missense_Mutation_p.P183S|DCTN1_uc010ffd.3_Missense_Mutation_p.P170S|DCTN1_uc002sky.3_Missense_Mutation_p.P153S	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	190	Ser-rich.				G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GCTGCCAGCGGAGTCTGAGCC	0.667000														5			6		0	0	0.001168	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552369	1552369	+	Nonsense_Mutation	SNP	G	A	A	rs148690008		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:1552369G>A	uc010gai.3	-	2	847	c.748C>T	c.(748-750)Cga>Tga	p.R250*	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	250					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CTTCTACCTCGGATGGCCTCA	0.597000														30			6		0	0	0.001984	0	0
ABCB9	23457	broad.mit.edu	37	12	123419895	123419895	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:123419895G>A	uc001udm.4	-	9	2137	c.1827C>T	c.(1825-1827)ttC>ttT	p.F609F	ABCB9_uc021rfo.1_Silent_p.F609F|ABCB9_uc021rfp.1_Silent_p.F609F|ABCB9_uc010tai.2_Silent_p.F216F|ABCB9_uc001udo.4_Silent_p.F566F|ABCB9_uc010taj.2_Silent_p.F546F|ABCB9_uc001udq.3_Silent_p.F328F|ABCB9_uc021rfq.1_Silent_p.F609F	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA.	609	ABC transporter.				positive regulation of T cell mediated cytotoxicity|protein transport	TAP complex|lysosomal membrane|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CCACCATCTCGAAAGGCACAG	0.637000														12			12		0	0	0.000978	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420389	55420389	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:55420389G>A	uc001sgp.4	+	1	544	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	NEUROD4_uc021qyr.1_Missense_Mutation_p.E56K	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	56	Asp/Glu-rich (acidic).				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CAGTATTgaggaagaagaaga	0.478000														10			6		0	0	0.001168	0	0
GP9	2815	broad.mit.edu	37	3	128780916	128780916	+	Missense_Mutation	SNP	C	T	T	rs139914505	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:128780916C>T	uc003elm.2	+	2	521	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C	GP9_uc021xdn.1_Missense_Mutation_p.R112C	NM_000174	NP_000165	P14770	GPIX_HUMAN	Homo sapiens glycoprotein IX (platelet) (GP9), mRNA.	112	LRRCT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	GCTGCAGGTCCGCTGTGCCAG	0.706000														10			3		0	0	0.004672	0	0
GORASP2	26003	broad.mit.edu	37	2	171822366	171822366	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:171822366C>T	uc002ugk.3	+	9	1900	c.1085C>T	c.(1084-1086)tCc>tTc	p.S362F	GORASP2_uc002ugj.3_Missense_Mutation_p.S294F|GORASP2_uc010zdl.2_Missense_Mutation_p.S374F|GORASP2_uc010zdm.2_Missense_Mutation_p.S318F|GORASP2_uc002ugl.3_Missense_Mutation_p.S294F|GORASP2_uc002ugm.3_Missense_Mutation_p.S144F	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	Homo sapiens golgi reassembly stacking protein 2, 55kDa (GORASP2), transcript variant 1, mRNA.	362	Pro-rich.					Golgi membrane		p.S362S(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						CCCCTGCCATCCGAGTTCCTC	0.582000														38			24		0	0	0.005443	0	0
FSIP2	401024	broad.mit.edu	37	2	186672268	186672268	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:186672268G>A	uc002upl.3	+	16	18502	c.18502G>A	c.(18502-18504)Gaa>Aaa	p.E6168K	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						TGATGATGATGAAATTATTCA	0.323000														60			42		0	0	0.006999	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539967	133539967	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:133539967C>T	uc002ttp.3	-	13	4791	c.4417G>A	c.(4417-4419)Gaa>Aaa	p.E1473K	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1473							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ACCTTTTCTTCGATTGTGGGT	0.502000														24			21		0	0	0.008871	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101755635	101755635	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:101755635C>T	uc003knn.3	-	7	1539	c.1367G>A	c.(1366-1368)aGa>aAa	p.R456K	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Missense_Mutation_p.R456K|SLCO6A1_uc003knq.3_Missense_Mutation_p.R394K	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	456						integral to membrane|plasma membrane	transporter activity	p.M455T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CATTATAAATCTCATAAGGGC	0.358000														66			13		0	0	0.001368	0	0
CEACAM6	4680	broad.mit.edu	37	19	42266060	42266060	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:42266060C>T	uc002orm.2	+	3	1036	c.887C>T	c.(886-888)tCc>tTc	p.S296F		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	296	Ig-like C2-type 2.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		AATAGCGGATCCTATATGTGC	0.473000														44			18		0	0	0.008871	0	0
MYOM2	9172	broad.mit.edu	37	8	2007281	2007281	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:2007281G>C	uc003wpx.4	+	5	706	c.568G>C	c.(568-570)Gat>Cat	p.D190H	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	190	Ig-like C2-type 1.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TAGGTACAAAGATGGCAGTCT	0.507000														34			10		0	0	0.006214	0	0
GARNL3	84253	broad.mit.edu	37	9	130117638	130117638	+	Missense_Mutation	SNP	C	T	T	rs145626536	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:130117638C>T	uc011mae.2	+	19	2223	c.1822C>T	c.(1822-1824)Cgg>Tgg	p.R608W	GARNL3_uc011mad.2_Missense_Mutation_p.R586W|GARNL3_uc010mxi.3_5'UTR	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	Homo sapiens GTPase activating Rap/RanGAP domain-like 3 (GARNL3), mRNA.	608	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GGTTGCAATTCGGAATAAACT	0.468000														171			47		0	0	0.003610	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590609	140590609	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140590609G>A	uc003liz.3	+	0	2319	c.2130G>A	c.(2128-2130)gcG>gcA	p.A710A	PCDHB12_uc011dak.2_Silent_p.A373A|PCDHB13_uc003lja.1_5'Flank	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	710					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGTGGCGGTGCGGCTGT	0.692000														80			27		0	0	0.008361	0	0
SPTA1	6708	broad.mit.edu	37	1	158618341	158618341	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158618341C>T	uc001fst.1	-	25	3871	c.3672G>A	c.(3670-3672)cgG>cgA	p.R1224R		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1224					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	p.R1223Q(1)|p.R1224W(1)		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)					AGCCCTCATGCCGTCGCTGAA	0.502000														62			29		0	0	0.002096	0	0
SLC4A11	83959	broad.mit.edu	37	20	3210170	3210170	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:3210170C>T	uc010zqe.2	-	14	1996	c.1871_splice	c.e14+1	p.S624_splice	SLC4A11_uc002wig.3_Splice_Site_p.S597_splice|SLC4A11_uc002wih.3_Splice_Site|SLC4A11_uc010zqf.2_Splice_Site_p.S581_splice	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	597	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AGCCCCTCACCTCTTCTTGAA	0.657000														28			12		0	0	0.003163	0	0
MUC17	140453	broad.mit.edu	37	7	100685723	100685723	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100685723C>T	uc003uxp.1	+	2	11079	c.11026C>T	c.(11026-11028)Cct>Tct	p.P3676S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3676	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCATCTCCTGTGACTCC	0.522000														95			45		0	0	0.003610	0	0
ADD2	119	broad.mit.edu	37	2	70901819	70901819	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:70901819C>T	uc021vjc.1	-	13	1997	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.E578K|ADD2_uc002sgz.3_Missense_Mutation_p.E578K|ADD2_uc010fdt.2_Missense_Mutation_p.E578K	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	578					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCATCAAGTTCTAGTTTCTTC	0.542000														51			11		0	0	0.001368	0	0
ZNF229	7772	broad.mit.edu	37	19	44936407	44936407	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:44936407C>T	uc002oze.1	-	4	662	c.228G>A	c.(226-228)agG>agA	p.R76R	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Intron	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CCAGAGGATTCCTCTCACCCA	0.443000														66			28		0	0	0.008361	0	0
MANEA	79694	broad.mit.edu	37	6	96034425	96034425	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:96034425G>A	uc003poo.2	+	1	290	c.110G>A	c.(109-111)gGa>gAa	p.G37E	MANEA_uc003pon.3_Missense_Mutation_p.G37E	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	Homo sapiens mannosidase, endo-alpha (MANEA), mRNA.	37					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		GCTACTTTTGGAGCTCCTTTT	0.358000														35			23		0	0	0.003330	0	0
GP2	2813	broad.mit.edu	37	16	20328586	20328586	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:20328586G>A	uc002dgv.3	-	8	1457	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	GP2_uc002dgw.3_Silent_p.F455F|GP2_uc002dgx.3_Silent_p.F311F|GP2_uc002dgy.3_Silent_p.F308F	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	458	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CACAATGCAGGAAAACTAGGT	0.483000														28			8		0	0	0.004482	0	0
OR9I1	219954	broad.mit.edu	37	11	57886005	57886005	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:57886005G>A	uc001nml.1	-	0	912	c.912C>T	c.(910-912)gtC>gtT	p.V304V	OR9Q1_uc001nmj.3_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V304V(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GTCTCCTAGCGACCTTTCTGA	0.428000														83			51		0	0	0.003610	0	0
VIPR2	7434	broad.mit.edu	37	7	158827297	158827297	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:158827297C>T	uc003woh.3	-	8	1040	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	VIPR2_uc010lqx.3_Non-coding_Transcript|VIPR2_uc010lqy.3_Non-coding_Transcript	NM_003382	NP_003373	P41587	VIPR2_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA.	285					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		AATCGGTATTCGTATGACCCA	0.473000														50			14		0	0	0.006122	0	0
CLEC1A	51267	broad.mit.edu	37	12	10251418	10251418	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:10251418G>A	uc001qxb.3	-	0	188	c.104C>T	c.(103-105)cCc>cTc	p.P35L	CLEC1A_uc001qxd.3_Missense_Mutation_p.P25L|CLEC1A_uc010sgx.2_Missense_Mutation_p.P25L	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA.	35					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						TGTGCGCCGGGGCTCTGGATG	0.532000														8			8		0	0	0.003080	0	0
GJC1	10052	broad.mit.edu	37	17	42882180	42882180	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:42882180C>T	uc002ihj.3	-	1	1517	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	GJC1_uc002ihk.3_Missense_Mutation_p.E336K|GJC1_uc002ihl.3_Missense_Mutation_p.E336K|GJC1_uc021tyf.1_Missense_Mutation_p.E336K	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	336					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TGCAGAGCCTCCAGGTCAGCT	0.557000														27			63		0	0	0.003610	0	0
COL3A1	1281	broad.mit.edu	37	2	189863020	189863020	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:189863020G>A	uc002uqj.1	+	27	2069	c.1952G>A	c.(1951-1953)gGa>gAa	p.G651E		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	651	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGTCCTCCAGGAGAAAATGGA	0.363000														27			12		0	0	0.001368	0	0
MMP20	9313	broad.mit.edu	37	11	102465400	102465401	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:102465400_102465401CC>TT	uc001phc.3	-	6	1054_1055	c.1041_1042GG>AA	c.(1039-1044)gtggat>gtAAat	p.D348N		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	348	Hemopexin-like 2.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TAAGCTGCATCCACATTGGACA	0.525000														32			4		0	0	0.004672	0	0
SV2C	22987	broad.mit.edu	37	5	75594650	75594650	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:75594650T>A	uc003kei.1	+	9	1668	c.1534T>A	c.(1534-1536)Ttc>Atc	p.F512I		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	512					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		ATCTGTAACTTTCAAAGACTC	0.368000														51			19		0	0	0.002299	0	0
NOS1	4842	broad.mit.edu	37	12	117703244	117703244	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:117703244G>A	uc001twn.2	-	11	2724	c.2013C>T	c.(2011-2013)taC>taT	p.Y671Y	NOS1_uc021ren.1_Silent_p.Y335Y|NOS1_uc021reo.1_Silent_p.Y335Y|NOS1_uc001twm.2_Silent_p.Y671Y	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	671					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCCGGCAGCGGTACTCATTCT	0.607000														7			9		0	0	0.004482	0	0
CIC	23152	broad.mit.edu	37	19	42798877	42798877	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:42798877C>T	uc002otf.1	+	18	4489	c.4449C>T	c.(4447-4449)ttC>ttT	p.F1483F		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCATGGCTTCTTCCCGTCAG	0.592000			"""Mis, F, S"""		oligodendroglioma									54			29		0	0	0.002836	0	0
NTRK3	4916	broad.mit.edu	37	15	88680699	88680699	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:88680699G>A	uc002bme.2	-	6	864	c.558C>T	c.(556-558)aaC>aaT	p.N186N	NTRK3_uc002bmh.2_Silent_p.N186N|NTRK3_uc002bmf.2_Silent_p.N186N|NTRK3_uc021sua.1_Silent_p.N186N|NTRK3_uc010upl.1_Silent_p.N88N|NTRK3_uc010bnh.1_Silent_p.N186N|NTRK3_uc002bmg.3_Silent_p.N186N	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	186	LRRCT.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGCAGTAGAGGTTCTGGCTGT	0.592000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				16			4		0	0	0.009096	0	0
GRIN2A	2903	broad.mit.edu	37	16	10273906	10273906	+	Silent	SNP	G	A	A	rs145961628		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:10273906G>A	uc010uym.2	-	2	673	c.363C>T	c.(361-363)ttC>ttT	p.F121F	GRIN2A_uc002czo.4_Silent_p.F121F|GRIN2A_uc002czr.4_Silent_p.F121F|GRIN2A_uc010buk.3_Silent_p.F121F	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	121					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.F121L(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGATGGGGACGAAGGTGTGGG	0.602000														36			19		0	0	0.001882	0	0
APOB	338	broad.mit.edu	37	2	21230037	21230037	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:21230037C>T	uc002red.3	-	25	9831	c.9703G>A	c.(9703-9705)Gct>Act	p.A3235T		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3235	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.A3235D(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GATTTTTCAGCTTTGTACTTA	0.363000														203			127		0	0	0.003610	0	0
GNL2	29889	broad.mit.edu	37	1	38039990	38039990	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:38039990G>A	uc001cbk.3	-	11	1533	c.1370C>T	c.(1369-1371)cCt>cTt	p.P457L		NM_013285	NP_037417	Q13823	NOG2_HUMAN	Homo sapiens guanine nucleotide binding protein-like 2 (nucleolar) (GNL2), mRNA.	457					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				GACAAAGAAAGGAATCCGGCC	0.552000														30			5		0	0	0.001168	0	0
E2F8	79733	broad.mit.edu	37	11	19246255	19246255	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:19246255G>C	uc001mpm.3	-	12	3076	c.2554C>G	c.(2554-2556)Ctc>Gtc	p.L852V	E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Missense_Mutation_p.L852V	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	852					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGACAAAGAGAGTTCCTAAG	0.438000														52			10		0	0	0.001368	0	0
PARVA	55742	broad.mit.edu	37	11	12530148	12530148	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:12530148C>T	uc001mki.3	+	6	844	c.675C>T	c.(673-675)ctC>ctT	p.L225L	PARVA_uc010rck.1_Silent_p.L172L	NM_018222	NP_060692	Q9NVD7	PARVA_HUMAN	Homo sapiens parvin, alpha (PARVA), mRNA.	225					cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		AAGGAATCCTCCAGTCTCGGC	0.433000														67			17		0	0	0.004990	0	0
TCRA	0	broad.mit.edu	37	14	22315112	22315112	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:22315112G>A	uc001wbz.1	+	1	275	c.50G>A	c.(49-51)gGa>gAa	p.G17E	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Non-coding_Transcript|TCRA_uc010ait.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: un 132.																		GTTGCAGGAGGAACCAGAGCC	0.498000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			6		0	0	0.001168	0	0
TEX10	54881	broad.mit.edu	37	9	103111464	103111464	+	Splice_Site	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:103111464A>T	uc004bas.3	-	2	395	c.180_splice	c.e2+1	p.K60_splice	TEX10_uc011lvf.2_5'Flank|TEX10_uc011lvg.2_Splice_Site_p.K63_splice|TEX10_uc011lvh.1_Intron	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	Homo sapiens testis expressed 10 (TEX10), transcript variant 1, mRNA.	60						MLL1 complex|integral to membrane|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTTATGATTTACCTTTATGTT	0.294000														26			4		0	0	0.009096	0	0
CD163	9332	broad.mit.edu	37	12	7632515	7632515	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:7632515C>T	uc001qsz.3	-	15	3549	c.3421G>A	c.(3421-3423)Gaa>Aaa	p.E1141K	CD163_uc001qta.3_Intron|CD163_uc009zfw.2_Intron	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1141					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						GCCTCCTTTTCCATTCCAGAA	0.368000														16			17		0	0	0.004990	0	0
FAM135B	51059	broad.mit.edu	37	8	139153476	139153476	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:139153476C>T	uc003yuy.3	-	16	3926	c.3755G>A	c.(3754-3756)gGa>gAa	p.G1252E	FAM135B_uc003yux.3_Missense_Mutation_p.G1153E|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1252								p.G1252V(3)|p.G1252E(3)|p.L1251L(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)			GTACAGGGTTCCCAGGTGAGG	0.537000										HNSCC(54;0.14)				43			26		0	0	0.004656	0	0
ART5	116969	broad.mit.edu	37	11	3661515	3661515	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:3661515C>T	uc001lyb.1	-	1	537	c.144G>A	c.(142-144)gaG>gaA	p.E48E	ART5_uc001lyc.1_Silent_p.E48E|ART5_uc001lyd.3_Silent_p.E48E|ART5_uc009yea.3_Silent_p.E48E	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA.	48						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGCTGCCTTCTCCTCCATCT	0.627000														38			13		0	0	0.001855	0	0
OR8H1	219469	broad.mit.edu	37	11	56058404	56058404	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56058404C>T	uc010rje.2	-	0	135	c.135G>A	c.(133-135)atG>atA	p.M45I		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G44G(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TTATCAATATCATCCCCACAT	0.428000														97			53		0	0	0.003610	0	0
ADAM18	8749	broad.mit.edu	37	8	39495178	39495178	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:39495178G>A	uc003xni.3	+	8	838	c.783G>A	c.(781-783)cgG>cgA	p.R261R	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Silent_p.R237R	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	261	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATGGAAACGGGACTATCTCA	0.363000														31			5		0	0	0.001168	0	0
FCRL5	83416	broad.mit.edu	37	1	157516818	157516818	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:157516818G>A	uc009wsm.3	-	2	380	c.222C>T	c.(220-222)atC>atT	p.I74I	FCRL5_uc001fqu.3_Silent_p.I74I|FCRL5_uc010phv.1_Silent_p.I74I|FCRL5_uc010phw.1_Intron|FCRL5_uc001fqv.1_Silent_p.I74I|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	74	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAACCTCAAGGATATTGTCTG	0.488000														41			24		0	0	0.002299	0	0
SNRNP200	23020	broad.mit.edu	37	2	96944689	96944689	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:96944689G>A	uc002svu.3	-	36	5313	c.5181C>T	c.(5179-5181)caC>caT	p.H1727H	SNRNP200_uc002svt.3_Silent_p.H337H|SNRNP200_uc010yuj.2_Non-coding_Transcript	NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	1727	Helicase C-terminal 2.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						AGTGGTCCAGGTGAGATTCTA	0.458000														56			14		0	0	0.003163	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33012862	33012862	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:33012862G>A	uc010abe.1	-	7	2184	c.2162C>T	c.(2161-2163)cCt>cTt	p.P721L	N4BP2L2_uc001uug.2_Missense_Mutation_p.P604L|N4BP2L2_uc010abd.1_Missense_Mutation_p.P634L|N4BP2L2_uc001uuh.2_Missense_Mutation_p.P552L|N4BP2L2_uc001uuj.2_Missense_Mutation_p.P140L|N4BP2L2_uc010tdz.1_Missense_Mutation_p.P706L	NM_033111	NP_149102	Q92802	N42L2_HUMAN	Homo sapiens NEDD4 binding protein 2-like 2 (N4BP2L2), transcript variant 1, mRNA.	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATAGTCATCAGGCAACAAGGA	0.403000														6			6		0	0	0.003080	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887352	12887352	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:12887352C>T	uc001auk.2	-	2	701	c.505G>A	c.(505-507)Gag>Aag	p.E169K		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	169										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ACTTCCACCTCCTGGATACAG	0.463000														269			112		0	0	0.003610	0	0
CACHD1	57685	broad.mit.edu	37	1	65119465	65119465	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:65119465T>A	uc001dbo.1	+	10	1517	c.1412T>A	c.(1411-1413)cTt>cAt	p.L471H	CACHD1_uc001dbp.1_Missense_Mutation_p.L226H|CACHD1_uc001dbq.1_Missense_Mutation_p.L226H	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	522	Cache 1.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CACCCATCTCTTACCAGGCCA	0.338000														117			51		0	0	0.003610	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113634601	113634601	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:113634601C>T	uc003eaq.4	+	9	1082	c.1006C>T	c.(1006-1008)Cat>Tat	p.H336Y	GRAMD1C_uc011bil.2_Non-coding_Transcript|GRAMD1C_uc011bim.1_Non-coding_Transcript|GRAMD1C_uc003ear.3_Missense_Mutation_p.H169Y|GRAMD1C_uc003eas.3_Missense_Mutation_p.H131Y|GRAMD1C_uc003eat.3_5'UTR	NM_017577	NP_001165576	Q8IYS0	GRM1C_HUMAN	Homo sapiens GRAM domain containing 1C (GRAMD1C), transcript variant 1, mRNA.	336						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						CCGTATTTTTCATATCAGTGC	0.338000														39			10		0	0	0.008291	0	0
COLEC10	10584	broad.mit.edu	37	8	120079596	120079596	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:120079596C>T	uc003yoo.3	+	0	173	c.76C>T	c.(76-78)Ctg>Ttg	p.L26L		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	26						collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			AATTCAGAGTCTGGGTCTGGA	0.443000														26			6		0	0	0.001984	0	0
RYR2	6262	broad.mit.edu	37	1	237660052	237660052	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:237660052G>A	uc001hyl.1	+	20	2323	c.2203_splice	c.e20+1	p.G735_splice		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	735	B30.2/SPRY 1.				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)			TCTCTGGTCAGGTACGTACTA	0.468000														150			29		0	0	0.009535	0	0
HOXA2	3199	broad.mit.edu	37	7	27140492	27140492	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:27140492G>A	uc003syh.3	-	1	1259	c.984C>T	c.(982-984)ttC>ttT	p.F328F	HOXA2_uc022aaq.1_3'UTR	NM_006735	NP_006726	O43364	HXA2_HUMAN	Homo sapiens homeobox A2 (HOXA2), mRNA.	328						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						AATCTGTGGAGAAAACGCTAA	0.507000														44			26		0	0	0.006320	0	0
ARPP21	10777	broad.mit.edu	37	3	35770852	35770852	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:35770852C>T	uc011axy.2	+	12	1393	c.1181C>T	c.(1180-1182)cCt>cTt	p.P394L	ARPP21_uc003cga.3_Missense_Mutation_p.P374L|ARPP21_uc003cgb.3_Missense_Mutation_p.P428L|ARPP21_uc003cgf.3_Missense_Mutation_p.P229L|ARPP21_uc003cgg.3_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	428	Ser-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ACCCATCCACCTCTCCAGAGC	0.567000														57			31		0	0	0.002836	0	0
FLG2	388698	broad.mit.edu	37	1	152325322	152325322	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152325322C>T	uc001ezw.4	-	2	5013	c.4940G>A	c.(4939-4941)gGa>gAa	p.G1647E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1647							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTGTCTTCCAGTTGTCCT	0.512000														195			75		0	0	0.003610	0	0
AOX1	316	broad.mit.edu	37	2	201488607	201488607	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:201488607C>T	uc002uvx.3	+	18	2126	c.2025C>T	c.(2023-2025)gtC>gtT	p.V675V	AOX1_uc010zhf.2_Silent_p.V231V|AOX1_uc010fsu.3_Silent_p.V41V	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	675					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTCAGCTTGTCTGTGCTGTGC	0.488000														84			28		0	0	0.006320	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060370	35060370	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:35060370G>A	uc002xff.3	+	2	685	c.250G>A	c.(250-252)Gag>Aag	p.E84K	DLGAP4_uc010zvp.2_Missense_Mutation_p.E84K	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	84					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CGAGGTGCCAGAGGAGAGCCC	0.632000														38			9		0	0	0.000978	0	0
NRP2	8828	broad.mit.edu	37	2	206608234	206608235	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:206608234_206608235GG>AA	uc002vaw.3	+	8	2390_2391	c.1599_1600GG>AA	c.(1597-1602)aaggac>aaAAac	p.D534N	NRP2_uc002vat.3_Missense_Mutation_p.D534N|NRP2_uc002vau.3_Missense_Mutation_p.D534N|NRP2_uc002vav.3_Missense_Mutation_p.D534N|NRP2_uc002vax.3_Missense_Mutation_p.D534N|NRP2_uc002vay.3_Missense_Mutation_p.D534N|NRP2_uc010fud.3_Missense_Mutation_p.D534N	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	534	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TAAACGGCAAGGACTGGGAATA	0.545000														25			20		0	0	0.004672	0	0
ITIH5	80760	broad.mit.edu	37	10	7679266	7679266	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:7679266C>T	uc021pmv.1	-	4	683	c.577G>A	c.(577-579)Gag>Aag	p.E193K	ITIH5_uc001ijr.2_Missense_Mutation_p.E193K	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	193					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CCCGCGCTCTCCAGGATATTC	0.662000														50			9		0	0	0.004482	0	0
EPHA8	2046	broad.mit.edu	37	1	22913001	22913001	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:22913001C>T	uc001bfx.1	+	3	977	c.852C>T	c.(850-852)gcC>gcT	p.A284A	EPHA8_uc001bfw.3_Silent_p.A284A	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	284	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.S283L(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACAAGTCAGCCCCTGGGGACC	0.677000														34			17		0	0	0.006122	0	0
KCNA10	3744	broad.mit.edu	37	1	111061129	111061129	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:111061129C>T	uc001dzt.1	-	0	669	c.281G>A	c.(280-282)gGg>gAg	p.G94E		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	94						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AAATCTCAGCCCAGCAATGTT	0.532000														68			31		0	0	0.002445	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221678	118221678	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:118221678G>A	uc004era.4	-	10	3515	c.3515C>T	c.(3514-3516)tCa>tTa	p.S1172L		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1172										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTCTAGTCGTGAGGTCATTTC	0.468000														11			15		0	0	0.003163	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83320119	83320119	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:83320119C>T	uc004eej.2	-	21	2008	c.1972_splice	c.e21-1	p.D658_splice	RPS6KA6_uc011mqt.2_Splice_Site_p.D658_splice|RPS6KA6_uc011mqu.2_Splice_Site_p.D555_splice	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	658	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GAAAGCAAATCCTAAATTAAA	0.338000														6			11		0	0	0.008291	0	0
CNOT10	25904	broad.mit.edu	37	3	32769172	32769172	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:32769172C>T	uc011axj.1	+	9	1282	c.1205C>T	c.(1204-1206)tCa>tTa	p.S402L	CNOT10_uc011axi.1_Missense_Mutation_p.S114L|CNOT10_uc003cfc.1_Missense_Mutation_p.S342L|CNOT10_uc003cfd.1_Missense_Mutation_p.S341L|CNOT10_uc003cfe.1_Missense_Mutation_p.S342L|CNOT10_uc010hfv.1_Non-coding_Transcript|CNOT10_uc010hfw.1_Missense_Mutation_p.S37L	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 10 (CNOT10), mRNA.	342					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						AAAAAATTTTCAGGAAGACCC	0.338000														32			11		0	0	0.008291	0	0
PNPLA7	375775	broad.mit.edu	37	9	140437926	140437926	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:140437926G>A	uc010ncj.1	-	5	801	c.464C>T	c.(463-465)tCt>tTt	p.S155F	PNPLA7_uc004cnf.2_Missense_Mutation_p.S130F	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	130					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	p.F154F(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGGCAGGTGAGAATTCTTCAC	0.612000														69			31		0	0	0.003271	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092386	30092386	+	RNA	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:30092386T>A	uc010dmc.3	+	0		c.761T>A								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		TGTTCCACATTTGCCTCCTGG	0.562000														25			16		0	0	0.003163	0	0
OPN1MW	2652	broad.mit.edu	37	X	153490621	153490621	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:153490621C>T	uc004fkd.3	+	1	439	c.357C>T	c.(355-357)ttC>ttT	p.F119F		NM_000513	NP_001041646	P04001	OPSG_HUMAN	Homo sapiens opsin 1 (cone pigments), medium-wave-sensitive (OPN1MW), mRNA.	119					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|lung(1)	2	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGGCTACTTCGTGCTGGGCC	0.607000														53			36		0	0	0.003610	0	0
LRP3	4037	broad.mit.edu	37	19	33697953	33697953	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:33697953C>T	uc010edh.3	+	6	1878	c.1785C>T	c.(1783-1785)tcC>tcT	p.S595S	LRP3_uc002nuk.4_Silent_p.S469S	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	595					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GGCACGCCTcccgccgggggc	0.731000														2			3		0	0	0.004672	0	0
OR2T2	401992	broad.mit.edu	37	1	248616205	248616205	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248616205T>C	uc001iek.1	+	0	107	c.107T>C	c.(106-108)tTt>tCt	p.F36S		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I35M(1)|p.I35I(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCTCCATCTTTGTGGTGGCT	0.527000														167			38		0	0	0.002522	0	0
STK31	56164	broad.mit.edu	37	7	23825160	23825160	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:23825160G>A	uc003sws.4	+	17	2279	c.2212G>A	c.(2212-2214)Gaa>Aaa	p.E738K	STK31_uc003swt.4_Missense_Mutation_p.E715K|STK31_uc011jze.2_Missense_Mutation_p.E738K|STK31_uc010kuq.3_Missense_Mutation_p.E715K|STK31_uc003swv.1_5'Flank	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	738	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCCCATGAAGGAACTTAGCAG	0.418000														86			20		0	0	0.001882	0	0
SLC4A8	9498	broad.mit.edu	37	12	51853830	51853830	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:51853830C>T	uc001rys.1	+	7	1129	c.951C>T	c.(949-951)gcC>gcT	p.A317A	SLC4A8_uc010sni.2_Silent_p.A264A|SLC4A8_uc001rym.3_Silent_p.A264A|SLC4A8_uc001ryn.3_Silent_p.A264A|SLC4A8_uc001ryo.2_Silent_p.A264A|SLC4A8_uc001ryp.1_Silent_p.A264A|SLC4A8_uc010snj.2_Silent_p.A344A|SLC4A8_uc001ryq.4_Silent_p.A317A|SLC4A8_uc001ryr.3_Silent_p.A317A|SLC4A8_uc010snk.2_Silent_p.A264A	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	317					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CCATTGTTGCCTTTGTGAGGC	0.458000														74			120		0	0	0.003610	0	0
RBM12B	389677	broad.mit.edu	37	8	94746800	94746800	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:94746800G>A	uc022aye.1	-	0	1839	c.1839C>T	c.(1837-1839)caC>caT	p.H613H	RBM12B_uc003yfz.3_Silent_p.H613H	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	613							RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTCCCTAGGGTGCCTGAAGT	0.642000														45			15		0	0	0.004007	0	0
AP1G1	164	broad.mit.edu	37	16	71807241	71807241	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:71807241G>A	uc010cgg.3	-	3	665	c.351C>T	c.(349-351)ttC>ttT	p.F117F	AP1G1_uc021tkz.1_5'UTR|AP1G1_uc002fbb.3_Silent_p.F140F|AP1G1_uc010vmg.1_Non-coding_Transcript|AP1G1_uc010vmh.1_Silent_p.F199F|AP1G1_uc021tky.1_Silent_p.F117F	NM_001128	NP_001119	O43747	AP1G1_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 1 subunit (AP1G1), transcript variant 2, mRNA.	117					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				ACCCCTGTACGAATTGCGTGC	0.478000														52			7		0	0	0.003080	0	0
CCR5	1234	broad.mit.edu	37	3	46414700	46414700	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:46414700C>T	uc003cpo.4	+	2	429	c.307C>T	c.(307-309)Ctc>Ttc	p.L103F	CCR5_uc010hjd.3_Missense_Mutation_p.L103F|CCR5_uc021wxb.1_Missense_Mutation_p.L103F	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	103					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	AATGTGTCAACTCTTGACAGG	0.488000														170			59		0	0	0.003610	0	0
GRM3	2913	broad.mit.edu	37	7	86468384	86468384	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:86468384G>A	uc003uid.3	+	3	2653	c.1554G>A	c.(1552-1554)atG>atA	p.M518I	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.M390I|GRM3_uc010leh.3_Missense_Mutation_p.M110I	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	518					synaptic transmission	integral to plasma membrane		p.M518I(2)|p.E517K(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CCAATGAAATGAAGAATATGC	0.522000														44			16		0	0	0.003163	0	0
ACAP2	23527	broad.mit.edu	37	3	195053810	195053811	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:195053810_195053811CT>TA	uc003fun.4	-	7	856_857	c.615_616AG>TA	c.(613-618)caagga>caTAga	p.205_206QG>HR		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.	205	BAR.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						AGATCATATCCTTGATGAAAGA	0.332000														56			13		0	0	0.004672	0	0
ITGA8	8516	broad.mit.edu	37	10	15646320	15646320	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:15646320G>A	uc001ioc.1	-	19	2005	c.2005C>T	c.(2005-2007)Cac>Tac	p.H669Y	ITGA8_uc010qcb.1_Missense_Mutation_p.H654Y	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	669					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGCATAAGGTGATTTTCATCT	0.343000														25			6		0	0	0.001168	0	0
MARK1	4139	broad.mit.edu	37	1	220752852	220752852	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:220752852A>T	uc009xdw.3	+	1	805	c.208A>T	c.(208-210)Aat>Tat	p.N70Y	MARK1_uc001hml.3_Missense_Mutation_p.N70Y|MARK1_uc001hmn.4_Missense_Mutation_p.N70Y|MARK1_uc010pun.2_Missense_Mutation_p.N70Y|MARK1_uc001hmm.4_Missense_Mutation_p.N70Y	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	70	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AGGGAAGGGAAATTTTGCCAA	0.428000														35			5		0	0	0.001168	0	0
ITGA2	3673	broad.mit.edu	37	5	52374689	52374689	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:52374689C>T	uc003joy.3	+	23	3056	c.2913C>T	c.(2911-2913)ttC>ttT	p.F971F	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Silent_p.F895F|ITGA2_uc011cqd.2_Intron|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	971					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GTCCAAAATTCATCTTCTCCC	0.373000														12			7		0	0	0.008291	0	0
ADRB1	153	broad.mit.edu	37	10	115804525	115804525	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:115804525G>A	uc001lba.3	+	0	720	c.634G>A	c.(634-636)Gac>Aac	p.D212N		NM_000684	NP_000675	P08588	ADRB1_HUMAN	Homo sapiens adrenergic, beta-1-, receptor (ADRB1), mRNA.	212					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	CTGCTACAACGACCCCAAGTG	0.652000														19			4		0	0	0.000602	0	0
SLC9A1	6548	broad.mit.edu	37	1	27436209	27436209	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:27436209G>A	uc001bnm.3	-	2	1499	c.873C>T	c.(871-873)atC>atT	p.I291I	SLC9A1_uc010ofk.2_5'UTR|SLC9A1_uc001bnn.2_Silent_p.I291I	NM_003047	NP_003038	P19634	SL9A1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 1 (SLC9A1), mRNA.	291					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	AGCCGAGGAAGATGTCCACGA	0.622000														73			34		0	0	0.003755	0	0
ACTR1A	10121	broad.mit.edu	37	10	104245387	104245387	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:104245387G>A	uc001kvv.3	-	4	527	c.419C>T	c.(418-420)tCc>tTc	p.S140F	ACTR1A_uc010qqn.2_Missense_Mutation_p.S66F|ACTR1A_uc010qqo.2_Missense_Mutation_p.S93F	NM_005736	NP_005727	P61163	ACTZ_HUMAN	Homo sapiens ARP1 actin-related protein 1 homolog A, centractin alpha (yeast) (ACTR1A), mRNA.	140					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		AGCTTGCATGGAGATGAAAAG	0.567000														40			17		0	0	0.004990	0	0
RNASE11	122651	broad.mit.edu	37	14	21052174	21052174	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:21052174C>T	uc010ahw.3	-	2	796	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	RNASE11_uc010ahv.3_Missense_Mutation_p.E154K|RNASE11_uc010ahx.3_Missense_Mutation_p.E154K|RNASE11_uc001vxs.3_Missense_Mutation_p.E154K|RNASE11_uc021rnu.1_Missense_Mutation_p.E154K	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	Homo sapiens ribonuclease, RNase A family, 11 (non-active) (RNASE11), mRNA.	154						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.E154E(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		ACTGTATTTTCCAGTTCTAGG	0.502000														23			7		0	0	0.008291	0	0
XIST	7503	broad.mit.edu	37	X	73072049	73072049	+	RNA	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:73072049G>A	uc004ebm.1	-	0		c.540C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GGTTCAGAGGGGAAGGGAATC	0.463000														1			5		0	0	0.000602	0	0
APP	351	broad.mit.edu	37	21	27423460	27423460	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:27423460G>A	uc002ylz.3	-	4	718	c.518C>T	c.(517-519)cCc>cTc	p.P173L	APP_uc010glk.3_Missense_Mutation_p.P168L|APP_uc002yma.3_Missense_Mutation_p.P173L|APP_uc011ach.2_Missense_Mutation_p.P117L|APP_uc021whz.1_Missense_Mutation_p.P173L|APP_uc021wia.1_Missense_Mutation_p.P173L|APP_uc002ymb.3_Missense_Mutation_p.P173L|APP_uc010glj.3_Missense_Mutation_p.P117L|APP_uc021wib.1_Missense_Mutation_p.P173L|APP_uc011aci.2_Missense_Mutation_p.P138L|APP_uc011acj.2_Missense_Mutation_p.P173L	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	173					G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				AATTCCGCAGGGCAGCAACAT	0.478000														6			10		0	0	0.001368	0	0
PLCZ1	89869	broad.mit.edu	37	12	18854641	18854641	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:18854641C>T	uc021qvx.1	-	7	1125	c.934G>A	c.(934-936)Ggt>Agt	p.G312S	PLCZ1_uc001rdv.4_Missense_Mutation_p.G208S|PLCZ1_uc001rdw.4_Missense_Mutation_p.G53S|PLCZ1_uc001rdu.1_Missense_Mutation_p.G53S|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	312					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTATCAGAACCTTTTCTTTCA	0.418000														6			6		0	0	0.003080	0	0
OR2C1	4993	broad.mit.edu	37	16	3406776	3406776	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:3406776C>T	uc002cuw.1	+	0	888	c.836C>T	c.(835-837)tCg>tTg	p.S279L		NM_012368	NP_036500	O95371	OR2C1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S279W(2)		kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CTGTTCTACTCGTTGGTCACA	0.542000														31			8		0	0	0.003080	0	0
CYP21A2	1589	broad.mit.edu	37	6	32007948	32007948	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:32007948C>T	uc003nze.2	+	6	1012	c.905C>T	c.(904-906)tCc>tTc	p.S302F	CYP21A2_uc003nzf.2_Missense_Mutation_p.S272F	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	301					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						AACACCCTCTCCTGGGCCGTG	0.617000														244			123		0	0	0.003610	0	0
HDC	3067	broad.mit.edu	37	15	50555459	50555459	+	Silent	SNP	C	T	T	rs143453549		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:50555459C>T	uc001zxz.3	-	1	519	c.177G>A	c.(175-177)ggG>ggA	p.G59G	HDC_uc010uff.2_Silent_p.G59G|HDC_uc010bet.2_Silent_p.G59G|HDC_uc010beu.2_Silent_p.G59G	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	59					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GTTCAATGTCCCCAAAGATGC	0.597000														93			17		0	0	0.002299	0	0
SCN9A	6335	broad.mit.edu	37	2	167056260	167056260	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:167056260A>G	uc010fpl.3	-	26	5197	c.4856T>C	c.(4855-4857)aTc>aCc	p.I1619T	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1630						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)	CAGCGTGCGGATCCCCTTTGC	0.498000														53			31		0	0	0.008361	0	0
MB21D2	151963	broad.mit.edu	37	3	192517368	192517368	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:192517368C>T	uc011bsp.2	-	1	604	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	Homo sapiens Mab-21 domain containing 2 (MB21D2), mRNA.	95										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						ACCACGCCTTCCCGGACACCT	0.483000														19			15		0	0	0.004990	0	0
TNFRSF18	8784	broad.mit.edu	37	1	1140754	1140754	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:1140754G>A	uc001add.3	-	1	444	c.306C>T	c.(304-306)tcC>tcT	p.S102S	TNFRSF18_uc001ada.3_Silent_p.S30S|TNFRSF18_uc001adb.3_Silent_p.S102S|TNFRSF18_uc001adc.3_Silent_p.S102S	NM_148901	NP_683699	Q9Y5U5	TNR18_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 18 (TNFRSF18), transcript variant 2, mRNA.	102					anti-apoptosis|apoptosis	extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACTTACCCTGGGACTGTACCC	0.652000														7			10		0	0	0.006214	0	0
BC011998	0	broad.mit.edu	37	5	164028204	164028204	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:164028204C>T	uc003lzn.3	+	2		c.382C>T								Homo sapiens, clone IMAGE:4479080, mRNA, partial cds.																		GATCATATCCCGCAGGTGCGT	0.587000														3			3		0	0	0.009096	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7672755	7672755	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:7672755G>A	uc002mgu.4	+	6	803	c.702_splice	c.e6+1	p.M234_splice	CAMSAP3_uc002mgv.4_Intron	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	207	CH.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						ACCCCCCATGGTAATGTATCC	0.657000														11			15		0	0	0.006122	0	0
POU2AF1	5450	broad.mit.edu	37	11	111225262	111225262	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:111225262C>T	uc001plg.4	-	4	750	c.495G>A	c.(493-495)ctG>ctA	p.L165L		NM_006235	NP_006226	Q16633	OBF1_HUMAN	Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.	165					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		CTGGGCCCTCCAGCGGGGGCC	0.652000			T	BCL6	NHL									23			4		0	0	0.009096	0	0
SFXN4	119559	broad.mit.edu	37	10	120919252	120919252	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:120919252G>A	uc001leb.3	-	5	393	c.348C>T	c.(346-348)ttC>ttT	p.F116F	SFXN4_uc001ldy.3_5'UTR|SFXN4_uc001lea.3_Non-coding_Transcript	NM_213649	NP_998814	Q6P4A7	SFXN4_HUMAN	Homo sapiens sideroflexin 4 (SFXN4), mRNA.	116					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TGGGTGCCATGAAAGGCAGGA	0.587000														28			8		0	0	0.006214	0	0
MARCH10	162333	broad.mit.edu	37	17	60814506	60814506	+	Silent	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:60814506T>A	uc010dds.3	-	6	1122	c.837A>T	c.(835-837)ggA>ggT	p.G279G	MARCH10_uc010ddr.3_Silent_p.G241G|MARCH10_uc002jag.4_Silent_p.G241G|MARCH10_uc002jah.2_Silent_p.G240G|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	241							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GACTATTTTTTCCTTGGAAGG	0.532000														31			90		0	0	0.003610	0	0
NUPL1	9818	broad.mit.edu	37	13	25894702	25894702	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:25894702C>T	uc001uqi.3	+	7	991	c.745C>T	c.(745-747)Cct>Tct	p.P249S	NUPL1_uc001uqg.1_Missense_Mutation_p.P249S|NUPL1_uc001uqj.3_Missense_Mutation_p.P237S	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	Homo sapiens nucleoporin like 1 (NUPL1), transcript variant 1, mRNA.	249	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		p.P248R(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		AAATCTACCTCCTGTCATCTG	0.328000														51			7		0	0	0.008291	0	0
LPO	4025	broad.mit.edu	37	17	56320356	56320356	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:56320356C>T	uc002ivt.3	+	1	332	c.16C>T	c.(16-18)Cat>Tat	p.H6Y	LPO_uc010dco.2_Missense_Mutation_p.H6Y|LPO_uc010wnr.1_Missense_Mutation_p.H6Y|LPO_uc010wns.2_5'UTR|LPO_uc010dcp.3_Missense_Mutation_p.H6Y	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	6					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGTCCTTCTCCATCTCCCAGC	0.537000														72			116		0	0	0.003610	0	0
MSR1	4481	broad.mit.edu	37	8	15978105	15978105	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:15978105C>T	uc010lsu.3	-	8	1162	c.1098G>A	c.(1096-1098)acG>acA	p.T366T	MSR1_uc003wwz.3_Silent_p.T348T|MSR1_uc003wxa.3_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	348	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GTCGAACTTTCGTAAATGGAG	0.433000														27			17		0	0	0.004990	0	0
OR2T34	127068	broad.mit.edu	37	1	248737702	248737702	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248737702G>A	uc001iep.1	-	0	357	c.357C>T	c.(355-357)ctC>ctT	p.L119L		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGCAGCCAGGAGGAAAACCT	0.567000														52			18		0	0	0.006320	0	0
TCRBV14S1	0	broad.mit.edu	37	7	142423703	142423703	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142423703G>A	uc010lol.1	+	1	392	c.359G>A	c.(358-360)aGc>aAc	p.S120N	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron|TCRBV14S1_uc011ksj.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		GTGTTGCACAGCCAGCTGCTC	0.532000														36			8		0	0	0.004482	0	0
PYCR2	29920	broad.mit.edu	37	1	226075716	226075716	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:226075716G>A	uc010pvj.2	-	5	747	c.592C>T	c.(592-594)Cct>Tct	p.P198S	LEFTY1_uc001hpo.3_Silent_p.F89F|LEFTY1_uc009xej.2_Silent_p.F89F			Q96C36	P5CR2_HUMAN	Homo sapiens left-right determination factor 1 (LEFTY1), mRNA.	0					proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	CCAACGCCAGGAACCTGCCGG	0.692000														36			7		0	0	0.008291	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969130	47969130	+	Silent	SNP	G	A	A	rs118059830	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:47969130G>A	uc010ele.3	-	0	547	c.531C>T	c.(529-531)atC>atT	p.I177I	SLC8A2_uc002pgx.3_Silent_p.I177I|SLC8A2_uc010xyq.2_Intron|SLC8A2_uc010xyr.2_Intron			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	177					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TGCACACGGCGATGACCACAA	0.582000														22			8		0	0	0.003080	0	0
MMP27	64066	broad.mit.edu	37	11	102575416	102575416	+	Missense_Mutation	SNP	C	T	T	rs139015378		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:102575416C>T	uc001phd.1	-	1	216	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	65					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.E65K(2)|p.R64W(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		GCTTGCATTTCCCGAATTTTG	0.433000														28			11		0	0	0.008291	0	0
SERPINA5	5104	broad.mit.edu	37	14	95054273	95054273	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:95054273G>A	uc001ydm.2	+	2	784	c.574G>A	c.(574-576)Gat>Aat	p.D192N	SERPINA5_uc010ave.2_Missense_Mutation_p.D192N|SERPINA5_uc001ydn.1_Missense_Mutation_p.D192N	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	192					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TAAGAACCTCGATAGCAATGC	0.463000														74			43		0	0	0.003610	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46052592	46052592	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:46052592C>T	uc010wlc.2	+	5	586	c.462C>T	c.(460-462)gcC>gcT	p.A154A	CDK5RAP3_uc002imq.1_5'UTR|CDK5RAP3_uc002imr.3_Silent_p.A134A|CDK5RAP3_uc002ims.3_Silent_p.A47A	NM_176096	NP_788276	Q96JB5	CK5P3_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 3 (CDK5RAP3), mRNA.	134					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						AGCAGATTGCCAAGTGCCAGC	0.562000														33			56		0	0	0.003610	0	0
RIMS1	22999	broad.mit.edu	37	6	73102446	73102446	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:73102446G>A	uc003pga.3	+	30	4629	c.4552G>A	c.(4552-4554)Gat>Aat	p.D1518N	RIMS1_uc011dyb.2_Missense_Mutation_p.D915N|RIMS1_uc003pgc.3_Missense_Mutation_p.D967N|RIMS1_uc010kaq.3_Missense_Mutation_p.D838N|RIMS1_uc011dyc.2_Missense_Mutation_p.D643N|RIMS1_uc010kar.3_Missense_Mutation_p.D586N|RIMS1_uc011dyd.2_Missense_Mutation_p.D652N|RIMS1_uc003pge.3_Missense_Mutation_p.D558N|RIMS1_uc003pgf.3_Missense_Mutation_p.D518N|RIMS1_uc003pgi.3_Missense_Mutation_p.D334N|RIMS1_uc003pgg.3_Missense_Mutation_p.D414N|RIMS1_uc003pgh.3_Missense_Mutation_p.D385N|RIMS1_uc003pgd.3_Missense_Mutation_p.D584N|RIMS1_uc011dye.2_Missense_Mutation_p.D324N|RIMS1_uc011dyf.2_Missense_Mutation_p.D142N|RIMS1_uc011dyg.2_Missense_Mutation_p.D45N	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1518					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCAATTCAGTGATTTTCTTGA	0.408000														44			29		0	0	0.006999	0	0
AVPR1A	552	broad.mit.edu	37	12	63541221	63541221	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:63541221C>T	uc001sro.1	-	1	3149	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	392					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.R392*(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TGTTGGGCTTCGATTGTTAGA	0.403000														32			57		0	0	0.003610	0	0
DEPTOR	64798	broad.mit.edu	37	8	121015293	121015293	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:121015293T>A	uc003yow.4	+	5	1055	c.868T>A	c.(868-870)Ttc>Atc	p.F290I	DEPTOR_uc011lid.2_Missense_Mutation_p.F189I	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	Homo sapiens DEP domain containing MTOR-interacting protein (DEPTOR), mRNA.	290	Ser-rich.				intracellular signal transduction|negative regulation of TOR signaling cascade|negative regulation of cell size|negative regulation of protein kinase activity|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						cagcggctacttcagcagcag	0.612000														16			8		0	0	0.004482	0	0
DCDC2B	149069	broad.mit.edu	37	1	32678136	32678136	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:32678136G>A	uc001bun.2	+	4	573	c.573G>A	c.(571-573)ctG>ctA	p.L191L		NM_001099434	NP_001092904	A2VCK2	DCD2B_HUMAN	Homo sapiens doublecortin domain containing 2B (DCDC2B), mRNA.	191	Doublecortin 2.				intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGAAGGAGCTGGTAACTGGCC	0.587000														45			33		0	0	0.002445	0	0
SLC28A2	9153	broad.mit.edu	37	15	45555390	45555390	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:45555390A>C	uc001zva.2	+	4	459	c.394A>C	c.(394-396)Aca>Cca	p.T132P		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	132					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		CAAAAAATTAACAAGATGTCT	0.463000														24			4		0	0	0.000602	0	0
TIMD4	91937	broad.mit.edu	37	5	156378590	156378590	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:156378590G>A	uc003lwh.2	-	2	669	c.612C>T	c.(610-612)acC>acT	p.T204T	TIMD4_uc010jii.2_Silent_p.T204T	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	204	Thr-rich.					integral to membrane		p.S203N(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTCCGGAAGGGTGCTTGGGG	0.537000														248			69		0	0	0.003610	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567095	45567095	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:45567095C>T	uc010dnv.3	-	2	886	c.450G>A	c.(448-450)gaG>gaA	p.E150E	ZBTB7C_uc002ldb.3_Silent_p.E128E|ZBTB7C_uc010dnu.3_Silent_p.E137E|ZBTB7C_uc010dnw.3_Silent_p.E128E|ZBTB7C_uc010dnx.1_Silent_p.E128E|ZBTB7C_uc010dny.1_Silent_p.E128E|ZBTB7C_uc010dnz.1_Silent_p.E150E|ZBTB7C_uc010doi.1_Silent_p.E128E|ZBTB7C_uc010doj.1_Silent_p.E137E|ZBTB7C_uc010dok.1_Silent_p.E177E|ZBTB7C_uc010dol.1_Silent_p.E137E|ZBTB7C_uc010doa.1_Silent_p.E150E|ZBTB7C_uc010dob.1_Silent_p.E128E|ZBTB7C_uc010doc.1_Silent_p.E137E|ZBTB7C_uc010dod.1_Silent_p.E150E|ZBTB7C_uc010doe.1_Silent_p.E128E|ZBTB7C_uc010dof.1_Silent_p.E128E|ZBTB7C_uc010dog.1_Silent_p.E128E|ZBTB7C_uc010doh.1_Silent_p.E137E|ZBTB7C_uc010dom.1_Silent_p.E137E|ZBTB7C_uc010don.1_Silent_p.E136E|ZBTB7C_uc010dop.1_Silent_p.E128E|ZBTB7C_uc010doq.1_Silent_p.E137E|ZBTB7C_uc010dor.1_Silent_p.E150E|ZBTB7C_uc010dos.1_Silent_p.E128E|ZBTB7C_uc010dot.1_Silent_p.E128E|ZBTB7C_uc010doo.1_Silent_p.E128E|ZBTB7C_uc010dou.1_Silent_p.E137E	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	128	Asp-rich.|Glu-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						cccccCCAGGCTCCATGATCT	0.592000														19			5		0	0	0.000602	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136315040	136315040	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:136315040C>T	uc004cdv.4	+	22	3442	c.2998C>T	c.(2998-3000)Cgc>Tgc	p.R1000C	ADAMTS13_uc004cdp.4_Missense_Mutation_p.R227C|ADAMTS13_uc004cdt.1_Missense_Mutation_p.R1000C|ADAMTS13_uc004cdu.1_Missense_Mutation_p.R969C|ADAMTS13_uc004cdw.4_Missense_Mutation_p.R1000C|ADAMTS13_uc004cdx.4_Missense_Mutation_p.R969C|ADAMTS13_uc004cdy.1_Non-coding_Transcript|ADAMTS13_uc004cdz.4_Missense_Mutation_p.R670C	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	1000	TSP type-1 6.				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)		GGGGCTGCCTCGCCCGGAACC	0.677000														19			8		0	0	0.003080	0	0
CHRM2	1129	broad.mit.edu	37	7	136700504	136700504	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:136700504G>A	uc003vtf.1	+	3	1515	c.892G>A	c.(892-894)Gat>Aat	p.D298N	CHRM2_uc003vtg.1_Missense_Mutation_p.D298N|CHRM2_uc003vti.1_Missense_Mutation_p.D298N|CHRM2_uc003vtm.1_Missense_Mutation_p.D298N|CHRM2_uc003vtj.1_Missense_Mutation_p.D298N|CHRM2_uc003vtk.1_Missense_Mutation_p.D298N|CHRM2_uc003vtl.1_Missense_Mutation_p.D298N|CHRM2_uc003vtn.1_Missense_Mutation_p.D298N|CHRM2_uc003vto.1_Missense_Mutation_p.D298N|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.D298N	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	298					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TAATATGAGAGATGATGAAAT	0.478000														36			27		0	0	0.005443	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53675229	53675229	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:53675229G>A	uc002ehp.3	-	17	2906	c.2842C>T	c.(2842-2844)Cct>Tct	p.P948S	RPGRIP1L_uc002eho.4_Missense_Mutation_p.P948S|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.P948S|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.P948S|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.P948S	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	948					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GATGCTGGAGGAAGTCTTTGA	0.348000														243			85		0	0	0.003610	0	0
C12orf63	374467	broad.mit.edu	37	12	97073515	97073515	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:97073515C>T	uc021rcc.1	+	6	1054	c.976C>T	c.(976-978)Ctt>Ttt	p.L326F				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	326										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTCATTATTTCTTGCACAGAC	0.428000														36			60		0	0	0.003610	0	0
MYH8	4626	broad.mit.edu	37	17	10307766	10307766	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10307766C>T	uc002gmm.2	-	21	2664	c.2569G>A	c.(2569-2571)Gaa>Aaa	p.E857K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	857					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGGAATTCTTCCTTCATGGTG	0.448000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					64			16		0	0	0.004007	0	0
SLC45A2	51151	broad.mit.edu	37	5	33964039	33964039	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:33964039G>A	uc003jid.3	-	2	737	c.645C>T	c.(643-645)ttC>ttT	p.F215F	SLC45A2_uc003jie.3_Silent_p.F215F|SLC45A2_uc003jif.4_Intron|SLC45A2_uc011coe.1_Intron	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA.	215					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ACATGACCTGGAATTCTGTAC	0.488000														22			11		0	0	0.008291	0	0
PDZK1	5174	broad.mit.edu	37	1	145747241	145747241	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:145747241A>C	uc001eon.2	+	2	355	c.198A>C	c.(196-198)gaA>gaC	p.E66D	PDZK1_uc001eoo.2_Missense_Mutation_p.E66D|PDZK1_uc010oza.2_Missense_Mutation_p.E66D	NM_002614	NP_002605	Q5T2W1	NHRF3_HUMAN	Homo sapiens PDZ domain containing 1 (PDZK1), transcript variant 1, mRNA.	66	PDZ 1.				carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TGGACAAAGAAGAACATATGC	0.478000														69			21		0	0	0.001882	0	0
SYT3	84258	broad.mit.edu	37	19	51133146	51133146	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:51133146C>T	uc002pst.3	-	2	1591	c.957G>A	c.(955-957)agG>agA	p.R319R	SYT3_uc002psv.3_Silent_p.R319R|SYT3_uc010ycd.2_Silent_p.R319R	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	319	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CCTGCAGGATCCTCACCACCA	0.622000														127			22		0	0	0.002780	0	0
CEP135	9662	broad.mit.edu	37	4	56837483	56837483	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:56837483C>T	uc003hbi.3	+	9	1392	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	CEP135_uc003hbj.3_Silent_p.L92L	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.	386					G2/M transition of mitotic cell cycle|centriole replication|centriole-centriole cohesion	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GTGATGAACTCCTTGTAAAAT	0.303000														15			5		0	0	0.001984	0	0
DNAH1	25981	broad.mit.edu	37	3	52398945	52398945	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:52398945C>T	uc011bef.2	+	33	5689	c.5428C>T	c.(5428-5430)Ccc>Tcc	p.P1810S		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1810					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGACCTGTTTCCCACCATCAA	0.607000														34			29		0	0	0.007291	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997283	146997283	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:146997283G>A	uc003weu.2	+	8	1915	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	467	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.K466N(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCTAGCCAAGGAAAATTTTGC	0.413000										HNSCC(39;0.1)				46			15		0	0	0.004007	0	0
MRAP2	112609	broad.mit.edu	37	6	84799172	84799172	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:84799172C>T	uc003pkg.4	+	3	780	c.590C>T	c.(589-591)tCc>tTc	p.S197F	MRAP2_uc010kbo.3_Missense_Mutation_p.S111F	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.	197					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						AAGCCACTTTCCCAGACCTCA	0.423000														44			19		0	0	0.010504	0	0
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99022765	99022765	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:99022765G>A	uc011kiw.2	-	6	1597	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	ATP5J2-PTCD1_uc003uqh.3_Missense_Mutation_p.R464W	NM_001198879	NP_001185808	B4DJ38	B4DJ38_HUMAN	Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.	513																	AAGGCCAGCCGGTCAGCTGGG	0.652000														31			11		0	0	0.000978	0	0
CEP76	79959	broad.mit.edu	37	18	12674539	12674539	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:12674539G>A	uc002kri.3	-	10	1993	c.1837C>T	c.(1837-1839)Ctt>Ttt	p.L613F	PSMG2_uc002krg.3_Intron|CEP76_uc002krh.3_Missense_Mutation_p.L435F|CEP76_uc010wzz.2_Missense_Mutation_p.L538F	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	Homo sapiens centrosomal protein 76kDa (CEP76), mRNA.	613					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTTACCGAAGACATGTGGCA	0.363000														31			28		0	0	0.006320	0	0
TECTA	7007	broad.mit.edu	37	11	120979979	120979979	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:120979979C>T	uc010rzo.2	+	2	258	c.258C>T	c.(256-258)tcC>tcT	p.S86S		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	86					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGCCAGAATCCTTTCCCCTGA	0.488000														21			8		0	0	0.004482	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136382	40136382	+	Silent	SNP	G	A	A	rs142652482		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:40136382G>A	uc021qgf.1	-	0	1461	c.1461C>T	c.(1459-1461)acC>acT	p.T487T	LRRC4C_uc001mxc.1_Silent_p.T483T|LRRC4C_uc001mxd.1_Silent_p.T483T|LRRC4C_uc001mxa.1_Silent_p.T487T|LRRC4C_uc001mxb.1_Silent_p.T483T	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	487					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGGTCACATTGGTGGTCTCCC	0.512000														32			12		0	0	0.000978	0	0
SACS	26278	broad.mit.edu	37	13	23909674	23909674	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:23909674G>A	uc001uon.2	-	9	8930	c.8341C>T	c.(8341-8343)Cat>Tat	p.H2781Y	SACS_uc001uoo.2_Missense_Mutation_p.H2634Y|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.	2781					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)		ACAGATGCATGAAATTGTTTC	0.353000														22			20		0	0	0.007413	0	0
SCAI	286205	broad.mit.edu	37	9	127762192	127762192	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:127762192G>A	uc004bpd.3	-	13	1413	c.1291C>T	c.(1291-1293)Cag>Tag	p.Q431*	SCAI_uc004bpe.3_Nonsense_Mutation_p.Q408*|SCAI_uc010mwu.3_Non-coding_Transcript	NM_173690	NP_775961	Q8N9R8	SCAI_HUMAN	Homo sapiens suppressor of cancer cell invasion (SCAI), transcript variant 1, mRNA.	408					negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TTGTGGGACTGATTTCGTTTG	0.328000														85			46		0	0	0.003610	0	0
KALRN	8997	broad.mit.edu	37	3	123946904	123946904	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:123946904C>T	uc003ehg.3	+	1	262	c.135C>T	c.(133-135)ttC>ttT	p.F45F	KALRN_uc010hrv.1_Silent_p.F45F|KALRN_uc003ehf.1_Silent_p.F45F|KALRN_uc011bjy.1_Silent_p.F45F	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	45	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.F45F(3)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGTGGCCTTCGTGTCTGGTG	0.448000														90			39		0	0	0.008740	0	0
C14orf105	55195	broad.mit.edu	37	14	57938251	57938251	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:57938251C>T	uc010trl.1	-	6	976	c.833G>A	c.(832-834)tGg>tAg	p.W278*	C14orf105_uc001xcy.2_Nonsense_Mutation_p.W238*|C14orf105_uc010trm.1_Nonsense_Mutation_p.W149*|C14orf105_uc010trn.1_Nonsense_Mutation_p.W149*|C14orf105_uc001xcz.2_Nonsense_Mutation_p.W237*	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	Homo sapiens chromosome 14 open reading frame 105 (C14orf105), mRNA.	238										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						GCCAATTTTCCAGGGACAGTA	0.388000														16			6		0	0	0.001984	0	0
CYP2C19	1557	broad.mit.edu	37	10	96580331	96580331	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:96580331G>A	uc010qnz.2	+	5	898	c.898G>A	c.(898-900)Gag>Aag	p.E300K	CYP2C19_uc010qny.2_Missense_Mutation_p.E278K	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	300					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AGCTGGGACAGAGACAACAAG	0.428000														46			22		0	0	0.001882	0	0
IFNA21	3452	broad.mit.edu	37	9	21166283	21166283	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:21166283G>A	uc003zom.2	-	0	377	c.329C>T	c.(328-330)aCt>aTt	p.T110I		NM_002175	NP_002166	P01568	IFN21_HUMAN	Homo sapiens interferon, alpha 21 (IFNA21), mRNA.	110					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GTTAAGTTCAGTGGAAAATTT	0.498000														94			15		0	0	0.002450	0	0
TTC31	64427	broad.mit.edu	37	2	74720195	74720195	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:74720195C>T	uc002slt.2	+	12	1433	c.1410C>T	c.(1408-1410)ctC>ctT	p.L470L	TTC31_uc002slu.2_Silent_p.L324L	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA.	470							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TGTCTCCACTCTTGCATTATC	0.607000														131			49		0	0	0.003610	0	0
CMA1	1215	broad.mit.edu	37	14	24975483	24975483	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:24975483C>T	uc001wpp.1	-	3	381	c.351G>A	c.(349-351)aaG>aaA	p.K117K	CMA1_uc010alx.1_Silent_p.K6K	NM_001836	NP_001827	P23946	CMA1_HUMAN	Homo sapiens chymase 1, mast cell (CMA1), mRNA.	117	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		TGGCTTTCTCCTTCAACTGTG	0.557000														33			5		0	0	0.004482	0	0
POFUT1	23509	broad.mit.edu	37	20	30804488	30804488	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:30804488C>T	uc002wxp.3	+	3	555	c.506C>T	c.(505-507)tCc>tTc	p.S169F	POFUT1_uc002wxo.3_Missense_Mutation_p.S169F|POFUT1_uc010ztt.2_Missense_Mutation_p.S61F|POFUT1_uc010ztu.2_Intron	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	Homo sapiens protein O-fucosyltransferase 1 (POFUT1), transcript variant 1, mRNA.	169					Notch signaling pathway|O-glycan processing|fucose metabolic process|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACAGGCATTTCCTTCAGTGCT	0.507000														66			30		0	0	0.002445	0	0
SNX30	401548	broad.mit.edu	37	9	115580005	115580005	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:115580005C>T	uc004bgj.4	+	2	517	c.369C>T	c.(367-369)gaC>gaT	p.D123D		NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	Homo sapiens sorting nexin family member 30 (SNX30), mRNA.	123	PX.				cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGGAGTTTGACCTGCCAGAAT	0.433000														39			9		0	0	0.004482	0	0
TDRD1	56165	broad.mit.edu	37	10	115970702	115970702	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:115970702G>A	uc001lbg.1	+	12	1789	c.1636G>A	c.(1636-1638)Gat>Aat	p.D546N	TDRD1_uc001lbf.3_Missense_Mutation_p.D537N|TDRD1_uc001lbh.1_Missense_Mutation_p.D537N|TDRD1_uc001lbi.1_Missense_Mutation_p.D537N|TDRD1_uc010qsc.2_Missense_Mutation_p.D207N|TDRD1_uc001lbj.3_Missense_Mutation_p.D255N	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	546	Tudor 2.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AGCCATTGGTGATATATGTTG	0.353000														44			6		0	0	0.001168	0	0
LRRC7	57554	broad.mit.edu	37	1	70488881	70488881	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:70488881G>A	uc001dep.3	+	14	1534	c.1504G>A	c.(1504-1506)Gat>Aat	p.D502N	LRRC7_uc009wbg.3_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	502						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						ACTGTCTGGCGATTGCTGCAC	0.572000														39			17		0	0	0.004990	0	0
MUC4	4585	broad.mit.edu	37	3	195505259	195505259	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:195505259G>A	uc021xjp.1	-	2	13014	c.12858C>T	c.(12856-12858)acC>acT	p.T4286T	MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_5'UTR|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_5'UTR|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_5'UTR|MUC4_uc021xjn.1_Silent_p.T27T|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_5'UTR|MUC4_uc021xjj.1_5'UTR|MUC4_uc021xjk.1_Silent_p.T27T|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Silent_p.T50T|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1043					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGTCTGGGAGGTTGTGGGGG	0.592000														37			18		0	0	0.007413	0	0
FER1L6	654463	broad.mit.edu	37	8	125061997	125061997	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:125061997G>A	uc003yqw.3	+	22	3080	c.2874_splice	c.e22+1	p.Q958_splice	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	958						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AACTGCTGCAGGTGAGTGAAC	0.522000														83			16		0	0	0.007413	0	0
OTOL1	131149	broad.mit.edu	37	3	161220114	161220114	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:161220114G>A	uc011bpb.2	+	2	474	c.474G>A	c.(472-474)ggG>ggA	p.G158G		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	158	Collagen-like 1.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GAGAACGTGGGGACCAAGGAG	0.413000														14			6		0	0	0.001168	0	0
DEFB113	245927	broad.mit.edu	37	6	49936573	49936573	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:49936573C>T	uc011dwq.2	-	1	66	c.66G>A	c.(64-66)caG>caA	p.Q22Q		NM_001037729	NP_001032818	Q30KQ7	DB113_HUMAN	Homo sapiens defensin, beta 113 (DEFB113), mRNA.	22					defense response to bacterium	extracellular region				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					TTGTTTTTTTCTGTGGAACTA	0.348000														19			5		0	0	0.000602	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55108198	55108198	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:55108198C>T	uc003dhf.3	+	37	3289	c.3241C>T	c.(3241-3243)Ctg>Ttg	p.L1081L		NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	1081						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AGTCCTCCTTCTGCTCCCTCT	0.502000														78			31		0	0	0.004878	0	0
SLC2A2	6514	broad.mit.edu	37	3	170716153	170716153	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:170716153C>T	uc003fhe.1	-	9	1512	c.1203G>A	c.(1201-1203)atG>atA	p.M401I	SLC2A2_uc003fhf.1_Missense_Mutation_p.M228I|SLC2A2_uc011bpu.1_Missense_Mutation_p.M274I	NM_000340	NP_000331	P11168	GTR2_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA.	401					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			AGATGGCTATCATGCTCACAT	0.443000														36			6		0	0	0.001168	0	0
S100PBP	64766	broad.mit.edu	37	1	33321617	33321617	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:33321617T>G	uc001bvz.3	+	6	1482	c.1205T>G	c.(1204-1206)cTc>cGc	p.L402R	S100PBP_uc001bwc.3_Missense_Mutation_p.L402R|S100PBP_uc001bwd.3_Non-coding_Transcript	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	Homo sapiens S100P binding protein (S100PBP), transcript variant 1, mRNA.	402						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TTCCAGCGTCTCCCAGACTTC	0.493000														31			13		0	0	0.002450	0	0
GRAMD4	23151	broad.mit.edu	37	22	47071398	47071398	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:47071398C>T	uc003bhx.3	+	15	1561	c.1512C>T	c.(1510-1512)tcC>tcT	p.S504S	GRAMD4_uc010had.3_Silent_p.S443S|GRAMD4_uc003bhy.3_Silent_p.S27S	NM_015124	NP_055939	Q6IC98	GRAM4_HUMAN	Homo sapiens GRAM domain containing 4 (GRAMD4), mRNA.	504	GRAM.				apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AATCTGGGTCCTCAAAGAGGA	0.562000														64			14		0	0	0.002450	0	0
BCAT1	586	broad.mit.edu	37	12	25002804	25002804	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:25002804C>T	uc001rgd.4	-	5	1117	c.590G>A	c.(589-591)gGa>gAa	p.G197E	BCAT1_uc001rgc.3_Missense_Mutation_p.G196E|BCAT1_uc010six.2_Missense_Mutation_p.G209E|BCAT1_uc010siy.2_Missense_Mutation_p.G160E|BCAT1_uc001rge.4_Missense_Mutation_p.G136E	NM_005504	NP_005495	P54687	BCAT1_HUMAN	Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA.	197					G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	ATTAAAGGTTCCACTTGAAAA	0.478000														37			53		0	0	0.003610	0	0
UGT2A3	79799	broad.mit.edu	37	4	69796481	69796481	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:69796481G>A	uc003hef.2	-	4	1118	c.1087C>T	c.(1087-1089)Cat>Tat	p.H363Y	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	363						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTTTTGGGATGACCTAGTATG	0.358000														7			8		0	0	0.003080	0	0
RRN3	54700	broad.mit.edu	37	16	15168609	15168609	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:15168609G>A	uc002dde.3	-	10	1036	c.968C>T	c.(967-969)tCc>tTc	p.S323F	PDXDC1_uc002ddc.3_Intron|RRN3_uc010uzp.2_Missense_Mutation_p.S191F|RRN3_uc010uzq.2_Missense_Mutation_p.S293F	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	Homo sapiens RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) (RRN3), mRNA.	323					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						CTTCATGTAGGACAAAACCAA	0.478000														20			6		0	0	0.001168	0	0
OR5A1	219982	broad.mit.edu	37	11	59211293	59211293	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:59211293C>A	uc001nnx.1	+	0	652	c.652C>A	c.(652-654)Ctt>Att	p.L218I		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L217I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CCTCCAACTCCTTATCTCCTA	0.542000														86			40		5.43694e-19	6.00849e-19	0.005524	1	0
CDC25A	993	broad.mit.edu	37	3	48207191	48207191	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:48207191G>A	uc003csh.1	-	11	1490	c.1126C>T	c.(1126-1128)Ctc>Ttc	p.L376F	CDC25A_uc003csi.1_Missense_Mutation_p.L336F|CDC25A_uc021wxk.1_Missense_Mutation_p.L335F	NM_001789	NP_001780	P30304	MPIP1_HUMAN	Homo sapiens cell division cycle 25 homolog A (S. pombe) (CDC25A), transcript variant 1, mRNA.	376	Rhodanese.				DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|mitosis|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TCTTTAATGAGGTTGGCAAAC	0.438000														57			27		0	0	0.005443	0	0
KIF5A	3798	broad.mit.edu	37	12	57969034	57969034	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:57969034C>T	uc001sor.1	+	15	2092	c.1884C>T	c.(1882-1884)tcC>tcT	p.S628S	KIF5A_uc010srr.1_Silent_p.S539S	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	628					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	p.S628P(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGCTCTCATCCTGCCAGCTCC	0.542000														9			17		0	0	0.006122	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883655	228883656	+	Missense_Mutation	DNP	AG	GA	GA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:228883655_228883656AG>GA	uc002vpq.2	-	6	1961_1962	c.1914_1915CT>TC	c.(1912-1917)gacttt>gaTCtt	p.F639L	SPHKAP_uc002vpp.2_Missense_Mutation_p.F639L|SPHKAP_uc010zlx.1_Missense_Mutation_p.F639L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	639						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGTCCAGAAAGTCTCCAATGC	0.485000														21			18		0	0	0.004672	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73021882	73021882	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:73021882C>T	uc001otu.3	+	0	2220	c.2199C>T	c.(2197-2199)tcC>tcT	p.S733S		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	733					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCTACAGGTCCCTGAGTGACC	0.627000														45			7		0	0	0.001984	0	0
WBSCR27	155368	broad.mit.edu	37	7	73249193	73249193	+	Silent	SNP	G	C	C	rs141574320	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:73249193G>C	uc003tzj.2	-	5	658	c.618C>G	c.(616-618)acC>acG	p.T206T		NM_152559	NP_689772	Q8N6F8	WBS27_HUMAN	Homo sapiens Williams Beuren syndrome chromosome region 27 (WBSCR27), mRNA.	206										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				AGCTCCCAGCGGTCCACAGGC	0.622000														41			11		0	0	0.001855	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20571850	20571850	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:20571850G>A	uc002wrz.3	-	16	2455	c.2312C>T	c.(2311-2313)cCc>cTc	p.P771L	RALGAPA2_uc002wry.3_Missense_Mutation_p.P386L|RALGAPA2_uc010zsg.2_Missense_Mutation_p.P219L	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	771					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CAGCGGCTCGGGGATGTCGGA	0.502000														60			13		0	0	0.007413	0	0
DCLK3	85443	broad.mit.edu	37	3	36779376	36779376	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:36779376C>T	uc003cgi.2	-	1	1266	c.775G>A	c.(775-777)Gag>Aag	p.E259K		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	259						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TTCTTCACCTCCCTCAGCCCC	0.602000														91			43		0	0	0.008740	0	0
CNTN3	5067	broad.mit.edu	37	3	74350893	74350893	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:74350893G>T	uc003dpm.1	-	13	1930	c.1850C>A	c.(1849-1851)tCt>tAt	p.S617Y		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	617	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.L616R(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTCTTTCCAAGAGAGTTGGGC	0.448000														47			20		9.95505e-16	1.09891e-15	0.002299	1	0
FCGBP	8857	broad.mit.edu	37	19	40368658	40368658	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:40368658G>A	uc002omp.4	-	27	12698	c.12690C>T	c.(12688-12690)ttC>ttT	p.F4230F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4230	VWFD 10.					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)			TGCCATTAGGGAAGACCTGGT	0.642000														234			37		0	0	0.003610	0	0
COL7A1	1294	broad.mit.edu	37	3	48623516	48623516	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:48623516G>A	uc003ctz.2	-	26	3715	c.3714C>T	c.(3712-3714)ttC>ttT	p.F1238F		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1238	Nonhelical region (NC1).				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)		CCTGAGTAGTGAAGGATGCCT	0.557000														77			53		0	0	0.003610	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713754	70713754	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:70713754C>T	uc010ttg.2	-	0	765	c.114G>A	c.(112-114)tgG>tgA	p.W38*						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		GCTCCAGAAACCATGCATGAG	0.433000														52			16		0	0	0.007413	0	0
SPAM1	6677	broad.mit.edu	37	7	123594434	123594435	+	Missense_Mutation	DNP	TC	AT	AT	rs141109529		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:123594434_123594435TC>AT	uc003vle.3	+	2	1249_1250	c.810_811TC>AT	c.(808-813)tctcct>tcATct	p.P271S	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.P271S|SPAM1_uc022aks.1_Missense_Mutation_p.P271S|SPAM1_uc003vlf.4_Missense_Mutation_p.P271S|SPAM1_uc010lku.3_Missense_Mutation_p.P271S	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	271					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CTCAGCAGTCTCCTGTAGCTGC	0.416000														47			24		0	0	0.004672	0	0
TRPC5	7224	broad.mit.edu	37	X	111090643	111090644	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:111090643_111090644CC>TT	uc004epl.1	-	5	2317_2318	c.1398_1399GG>AA	c.(1396-1401)agggag>agAAag	p.E467K	TRPC5_uc004epm.1_Missense_Mutation_p.E467K	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	467					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCCCATTCCTCCCTTGGACGAG	0.431000														21			11		0	0	0.004672	0	0
LUZP2	338645	broad.mit.edu	37	11	25004772	25004772	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:25004772C>T	uc001mqs.3	+	8	972	c.698C>T	c.(697-699)cCa>cTa	p.P233L	LUZP2_uc009yif.3_Missense_Mutation_p.P147L|LUZP2_uc009yig.3_Missense_Mutation_p.P191L	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	233						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						ACATCAAATCCAACTCGGATG	0.453000														38			25		0	0	0.003330	0	0
FMNL1	752	broad.mit.edu	37	17	43311019	43311019	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:43311019G>A	uc002iin.3	+	4	606	c.406G>A	c.(406-408)Gtg>Atg	p.V136M	FMNL1_uc002iio.3_Missense_Mutation_p.V81M|FMNL1_uc002iip.1_Missense_Mutation_p.V130M	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	136	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CCACAGGTGGGTGCAGGAGTT	0.627000														22			32		0	0	0.005524	0	0
CLCN1	1180	broad.mit.edu	37	7	143049049	143049049	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:143049049G>A	uc003wcr.1	+	22	3045	c.2958G>A	c.(2956-2958)ctG>ctA	p.L986L	CLCN1_uc011ktc.1_Silent_p.L598L	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	986					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AGGATGAACTGATCCTTTGAC	0.617000														69			29		0	0	0.009535	0	0
KLHL32	114792	broad.mit.edu	37	6	97562253	97562253	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:97562253G>A	uc010kcm.1	+	6	1694	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	KLHL32_uc003poy.3_Missense_Mutation_p.E408K|KLHL32_uc003poz.2_Intron|KLHL32_uc011ead.1_Missense_Mutation_p.E372K|KLHL32_uc011eae.1_Missense_Mutation_p.E339K|KLHL32_uc003ppa.2_Intron|MIR548H3_uc021zda.1_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	Homo sapiens kelch-like 32 (Drosophila) (KLHL32), mRNA.	408										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		GGGCAGAAATGAACTGCGCCA	0.498000														46			5		0	0	0.001168	0	0
MLL2	8085	broad.mit.edu	37	19	36224547	36224547	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:36224547C>T	uc021usv.1	+	28	7009	c.7009C>T	c.(7009-7011)Ctg>Ttg	p.L2337L	MLL2_uc021usu.1_Silent_p.L1151L	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	900	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGTCCTTGACCTGGATCGGCC	0.657000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				9			4		0	0	0.001168	0	0
LRRTM3	347731	broad.mit.edu	37	10	68688078	68688078	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:68688078C>T	uc001jmz.1	+	1	1954	c.1404C>T	c.(1402-1404)tcC>tcT	p.S468S	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Silent_p.S468S	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	468						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						AAAGACAGTCCCTAAAGCAAA	0.522000														30			9		0	0	0.006214	0	0
DHX57	90957	broad.mit.edu	37	2	39088456	39088456	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:39088456G>A	uc002rrf.3	-	4	1195	c.1096C>T	c.(1096-1098)Ccc>Tcc	p.P366S	DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Missense_Mutation_p.P366S	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	366							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GCTTGGTAGGGATATTTGTGG	0.363000														25			5		0	0	0.000602	0	0
OR4X2	119764	broad.mit.edu	37	11	48267363	48267363	+	Silent	SNP	C	T	T	rs144663280	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:48267363C>T	uc001ngs.1	+	0	708	c.708C>T	c.(706-708)ttC>ttT	p.F236F		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F236F(4)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GGTCCCATTTCGCTGTGGTTA	0.522000														23			14		0	0	0.002450	0	0
PWWP2A	114825	broad.mit.edu	37	5	159520234	159520234	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:159520234G>A	uc011ded.2	-	1	1480	c.1423C>T	c.(1423-1425)Cgt>Tgt	p.R475C	PWWP2A_uc003lxv.4_Missense_Mutation_p.R475C|PWWP2A_uc011dec.2_Missense_Mutation_p.R475C	NM_001130864	NP_001124336	Q96N64	PWP2A_HUMAN	Homo sapiens PWWP domain containing 2A (PWWP2A), transcript variant 2, mRNA.	475										kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTTTTAAACGAACCCGGGGT	0.458000														15			10		0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179542471	179542471	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179542471C>T	uc021vsy.1	-	142	30661	c.30436G>A	c.(30436-30438)Gaa>Aaa	p.E10146K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6807K|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11073	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGGAATTTCCTCTTCTTCA	0.433000														105			21		0	0	0.004656	0	0
GLRA1	2741	broad.mit.edu	37	5	151202345	151202345	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:151202345C>T	uc003lut.3	-	8	1550	c.1263G>A	c.(1261-1263)aaG>aaA	p.K421K	GLRA1_uc003lur.3_Silent_p.K413K|GLRA1_uc003lus.3_Silent_p.K330K	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	421					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGTCGATCTTCTTGGCCCTCT	0.507000														58			16		0	0	0.004990	0	0
PARD3B	117583	broad.mit.edu	37	2	206165305	206165305	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:206165305C>T	uc002var.2	+	16	2444	c.2237C>T	c.(2236-2238)tCc>tTc	p.S746F	PARD3B_uc010fub.2_Missense_Mutation_p.S746F|PARD3B_uc002vao.2_Missense_Mutation_p.S746F|PARD3B_uc002vap.2_Missense_Mutation_p.S684F|PARD3B_uc002vaq.2_Intron	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	746					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)		AAGTCCAGCTCCTTGGAGAGT	0.537000														76			21		0	0	0.010504	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189923	58189923	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:58189923C>T	uc002qpu.3	+	4	1649	c.952C>T	c.(952-954)Ccc>Tcc	p.P318S		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	318					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGAAGAATGCCCCAAGGTCTT	0.448000														45			17		0	0	0.007413	0	0
JHDM1D	80853	broad.mit.edu	37	7	139791650	139791651	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:139791650_139791651CT>TA	uc003vvm.3	-	18	2688_2689	c.2684_2685AG>TA	c.(2683-2685)aag>aTA	p.K895I	JHDM1D_uc010lng.3_Non-coding_Transcript	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	895					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ATGCCGGTCTCTTGGTGGGGTG	0.480000														122			11		0	0	0.004672	0	0
CRIP3	401262	broad.mit.edu	37	6	43273742	43273742	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:43273742C>T	uc010jyn.2	-	6	616	c.616G>A	c.(616-618)Ggt>Agt	p.G206S	CRIP3_uc003ouu.1_Intron	NM_206922	NP_996805	Q6Q6R5	CRIP3_HUMAN	Homo sapiens cysteine-rich protein 3 (CRIP3), mRNA.	206						cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			ACCCACAGACCATGTACATGC	0.592000														32			21		0	0	0.010504	0	0
OR52L1	338751	broad.mit.edu	37	11	6007702	6007702	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:6007702G>A	uc001mcd.2	-	0	514	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGATGCAGGATTGTGGAAT	0.502000														29			16		0	0	0.004007	0	0
TPO	7173	broad.mit.edu	37	2	1500513	1500513	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:1500513G>A	uc002qwr.3	+	12	2448	c.2362G>A	c.(2362-2364)Gat>Aat	p.D788N	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.D788N|TPO_uc002qwx.3_Missense_Mutation_p.D731N|TPO_uc002qwu.3_Missense_Mutation_p.D731N|TPO_uc010yio.2_Missense_Mutation_p.D615N|TPO_uc010yip.2_Missense_Mutation_p.D788N|TPO_uc002qwy.1_Missense_Mutation_p.D128N|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	788	Sushi.				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGAAGGATGGGATTTCCAGCC	0.507000														75			32		0	0	0.004878	0	0
PCLO	27445	broad.mit.edu	37	7	82583938	82583938	+	Missense_Mutation	SNP	G	A	A	rs61995903		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82583938G>A	uc003uhx.2	-	4	6620	c.6331C>T	c.(6331-6333)Ctc>Ttc	p.L2111F	PCLO_uc003uhv.2_Missense_Mutation_p.L2111F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2042					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						GCTCCTGAGAGAACACTTGAT	0.463000														14			15		0	0	0.003163	0	0
CCDC74B	91409	broad.mit.edu	37	2	130899763	130899763	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:130899763G>A	uc010yzw.1	-	1	1537	c.793C>T	c.(793-795)Cct>Tct	p.P265S	CCDC74B_uc002tqm.1_Missense_Mutation_p.P163S|CCDC74B_uc002tqn.1_Intron|CCDC74B_uc010yzx.1_3'UTR			Q96LY2	CC74B_HUMAN	Homo sapiens coiled-coil domain containing 74B (CCDC74B), mRNA.	163										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					CTGTCTGCAGGAGAGCGCACA	0.632000														22			6		0	0	0.006214	0	0
WBP2	23558	broad.mit.edu	37	17	73843574	73843574	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:73843574G>A	uc002jps.3	-	5	772	c.649C>T	c.(649-651)Cct>Tct	p.P217S	UNC13D_uc002jpp.3_5'Flank|UNC13D_uc010wsk.1_5'Flank|UNC13D_uc002jpq.1_5'Flank|WBP2_uc010wsl.2_Missense_Mutation_p.P183S|WBP2_uc010wsm.2_Missense_Mutation_p.P172S|WBP2_uc010wsn.1_Missense_Mutation_p.P186S	NM_012478	NP_036610	Q969T9	WBP2_HUMAN	Homo sapiens WW domain binding protein 2 (WBP2), mRNA.	217	Pro-rich.						protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCACCTGCAGGAGTGGAGGGG	0.677000														2			8		0	0	0.006214	0	0
ZNF28	7576	broad.mit.edu	37	19	53304598	53304598	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:53304598G>A	uc002qad.3	-	3	657	c.500C>T	c.(499-501)tCt>tTt	p.S167F	ZNF28_uc002qac.3_Missense_Mutation_p.S113F|ZNF28_uc010eqe.3_Missense_Mutation_p.S113F|ZNF28_uc021uza.1_Missense_Mutation_p.S114F	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATTGTTGATAGACTTCTCAAC	0.368000														117			25		0	0	0.005443	0	0
PAK4	10298	broad.mit.edu	37	19	39669193	39669193	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:39669193C>T	uc002okj.1	+	10	2211	c.1750C>T	c.(1750-1752)Ctc>Ttc	p.L584F	PAK4_uc002okl.1_Missense_Mutation_p.L584F|PAK4_uc002okn.1_Missense_Mutation_p.L584F|PAK4_uc002okm.1_Missense_Mutation_p.L431F|PAK4_uc002oko.1_Missense_Mutation_p.L431F|PAK4_uc002okp.1_Missense_Mutation_p.L494F	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	584					cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CATCGTGCCCCTCATGCGCCA	0.716000														24			8		0	0	0.003080	0	0
FEZF1	389549	broad.mit.edu	37	7	121944266	121944266	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:121944266G>A	uc003vkd.3	-	0	300	c.226C>T	c.(226-228)Ccc>Tcc	p.P76S	FEZF1_uc003vkc.3_Missense_Mutation_p.P76S|LOC154860_uc010lko.2_Non-coding_Transcript	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.	76					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GGCACGAAGGGGATCATGCAG	0.687000														36			15		0	0	0.002450	0	0
CDR1	1038	broad.mit.edu	37	X	139866204	139866204	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:139866204C>T	uc004fbg.1	-	0	520	c.328G>A	c.(328-330)Gat>Aat	p.D110N	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	110	23 X 6 AA approximate repeats.							p.P109L(1)|p.P109Q(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCAAAAAATCCGGGTCTTCC	0.453000														10			39		0	0	0.005524	0	0
PASK	23178	broad.mit.edu	37	2	242078169	242078169	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:242078169G>A	uc002wao.2	-	4	774	c.641C>T	c.(640-642)tCt>tTt	p.S214F	PASK_uc010zol.2_Missense_Mutation_p.S28F|PASK_uc010zom.2_Missense_Mutation_p.S214F|PASK_uc010fzl.2_Missense_Mutation_p.S214F|PASK_uc010zon.2_5'UTR|PASK_uc021vzf.1_Missense_Mutation_p.S214F|PASK_uc002waq.3_Missense_Mutation_p.S214F	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	214					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CATCCACACAGACACTGGAAT	0.582000														27			20		0	0	0.008871	0	0
LGSN	51557	broad.mit.edu	37	6	63990547	63990547	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:63990547G>A	uc003peh.3	-	3	943	c.909C>T	c.(907-909)ttC>ttT	p.F303F	LGSN_uc003pei.3_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	303					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	CAGTCTCAATGAAGAAGCTGG	0.423000														23			10		0	0	0.006214	0	0
THRB	7068	broad.mit.edu	37	3	24231761	24231761	+	Silent	SNP	T	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:24231761T>G	uc003ccz.4	-	5	607	c.87A>C	c.(85-87)ctA>ctC	p.L29L	THRB_uc010hfe.3_Silent_p.L29L|THRB_uc003ccy.4_Silent_p.L29L|THRB_uc003ccx.4_Silent_p.L29L|THRB_uc003cdc.3_Silent_p.L24L|THRB_uc003cdd.3_Silent_p.L24L|THRB_uc003cde.1_Silent_p.L24L|THRB_uc021wuc.1_Silent_p.L24L	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	29	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	ACATTCCTACTAGCTTCCAGT	0.498000														70			27		0	0	0.007291	0	0
PIWIL4	143689	broad.mit.edu	37	11	94340698	94340698	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:94340698C>T	uc001pfa.3	+	13	1943	c.1732C>T	c.(1732-1734)Ctt>Ttt	p.L578F	PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	578	Piwi.				DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCAATGTGTGCTTGCTCGGAC	0.463000														27			16		0	0	0.004990	0	0
ADCY10	55811	broad.mit.edu	37	1	167814809	167814809	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:167814809C>T	uc001ger.3	-	20	3297	c.2999G>A	c.(2998-3000)gGa>gAa	p.G1000E	ADCY10_uc010plj.2_Missense_Mutation_p.G847E|ADCY10_uc009wvk.3_Missense_Mutation_p.G908E|ADCY10_uc009wvl.3_Missense_Mutation_p.G999E	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1000					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACTTTTAAATCCATGAGACAT	0.408000														31			9		0	0	0.004482	0	0
EIF3G	8666	broad.mit.edu	37	19	10226423	10226423	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:10226423G>A	uc002mnd.3	-	8	841	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_003755	NP_003746	O75821	EIF3G_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit G (EIF3G), mRNA.	259	RRM.					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	p.F259Y(1)		central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CGAAAGGCCGGAAGAGCTCCT	0.632000														72			22		0	0	0.002780	0	0
INADL	10207	broad.mit.edu	37	1	62550265	62550265	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:62550265C>T	uc001dab.3	+	32	4436	c.4322C>T	c.(4321-4323)tCc>tTc	p.S1441F	INADL_uc009waf.1_Missense_Mutation_p.S1441F|INADL_uc001daa.2_Missense_Mutation_p.S1441F|INADL_uc001dad.3_Missense_Mutation_p.S1138F|INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Missense_Mutation_p.S225F|INADL_uc009wag.3_Missense_Mutation_p.S225F|INADL_uc010oou.1_Missense_Mutation_p.S114F	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1441	PDZ 8.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATAGAAATATCCAAGGGACGT	0.458000														60			18		0	0	0.008871	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841458	8841458	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:8841458C>T	uc010xkg.2	+	0	68	c.68C>T	c.(67-69)tCa>tTa	p.S23L		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACTCAGGATCACGCCAGCTC	0.527000														43			6		0	0	0.001168	0	0
NRXN3	9369	broad.mit.edu	37	14	79175824	79175824	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:79175824G>A	uc001xun.3	+	3	858	c.367G>A	c.(367-369)Gat>Aat	p.D123N	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.D257N	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AGAGAGGAAGGATGCTCGGAG	0.517000														49			29		0	0	0.007291	0	0
CD207	50489	broad.mit.edu	37	2	71061125	71061125	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:71061125C>T	uc002shg.3	-	2	264	c.217G>A	c.(217-219)Gat>Aat	p.D73N		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	Homo sapiens CD207 molecule, langerin (CD207), mRNA.	73					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GTCTTTACATCTGATATGGTG	0.512000														9			7		0	0	0.001984	0	0
WDR3	10885	broad.mit.edu	37	1	118497969	118497970	+	Missense_Mutation	DNP	GG	AA	AA	rs148919618		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:118497969_118497970GG>AA	uc010oxe.1	+	23	2507_2508	c.2441_2442GG>AA	c.(2440-2442)ggg>gAA	p.G814E	WDR3_uc001ehi.2_Intron|SPAG17_uc001ehk.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	Homo sapiens WD repeat domain 3 (WDR3), mRNA.	814						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		ATTTTTAAAGGGATCAAGTCGA	0.332000														34			9		0	0	0.004672	0	0
KRT32	3882	broad.mit.edu	37	17	39619137	39619137	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:39619137G>A	uc002hwr.3	-	5	1223	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W		NM_002278	NP_002269	Q14532	K1H2_HUMAN	Homo sapiens keratin 32 (KRT32), mRNA.	388	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CCCTCCAGCCGGGCCCGGACG	0.637000														34			45		0	0	0.003610	0	0
MAGI1	9223	broad.mit.edu	37	3	65369279	65369279	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:65369279C>T	uc003dmn.3	-	14	2962	c.2436G>A	c.(2434-2436)caG>caA	p.Q812Q	MAGI1_uc003dmm.3_Silent_p.Q840Q|MAGI1_uc003dmo.3_Silent_p.Q840Q|MAGI1_uc003dmp.3_Silent_p.Q812Q|MAGI1_uc003dmq.1_5'Flank|MAGI1_uc010hnx.1_Silent_p.Q123Q	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	840					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.A812V(1)		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)		GGAAGATGTCCTGTTCCTGGT	0.438000														47			12		0	0	0.001368	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202469367	202469367	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:202469367C>T	uc002uyf.3	-	1	337	c.285G>A	c.(283-285)caG>caA	p.Q95Q	ALS2CR11_uc002uye.3_Silent_p.Q95Q|ALS2CR11_uc010fti.3_Silent_p.Q95Q|ALS2CR11_uc021vvc.1_Silent_p.Q95Q	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	95										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TTGGCGTCTCCTGTGTTATTT	0.328000														63			33		0	0	0.007835	0	0
MEFV	4210	broad.mit.edu	37	16	3293195	3293195	+	Silent	SNP	C	T	T	rs142352887	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:3293195C>T	uc002cun.1	-	9	2332	c.2292G>A	c.(2290-2292)ggG>ggA	p.G764G	MEFV_uc021tbw.1_3'UTR|MEFV_uc021tbx.1_Silent_p.G344G|MEFV_uc021tby.1_Silent_p.G267G|MEFV_uc021tbz.1_Silent_p.G183G|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_3'UTR	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	764	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CTGTGTTCTTCCCTCCATCAC	0.527000														34			13		0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179647575	179647575	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179647575C>T	uc021vsy.1	-	17	3283	c.3058G>A	c.(3058-3060)Gag>Aag	p.E1020K	TTN_uc021vsz.1_Missense_Mutation_p.E974K|TTN_uc021vta.1_Missense_Mutation_p.E974K|TTN_uc021vtb.1_Missense_Mutation_p.E974K|TTN_uc002unb.2_Missense_Mutation_p.E1020K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1020	Ig-like 3.						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)			GTTCCAGCCTCATTTACAGCA	0.507000														22			10		0	0	0.000978	0	0
NUP210L	91181	broad.mit.edu	37	1	154026848	154026848	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:154026848G>A	uc001fdw.3	-	24	3411	c.3339C>T	c.(3337-3339)atC>atT	p.I1113I	NUP210L_uc009woq.3_Silent_p.I22I|NUP210L_uc010peh.2_Silent_p.I1113I	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1113						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGAAGTGAACGATGGATTGGG	0.473000														40			22		0	0	0.001882	0	0
ASIC3	9311	broad.mit.edu	37	7	150746440	150746440	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:150746440C>T	uc003wio.2	+	0	836	c.468C>T	c.(466-468)tcC>tcT	p.S156S	ASIC3_uc003win.2_Silent_p.S156S|ASIC3_uc003wip.2_Silent_p.S156S|ASIC3_uc003wiq.2_Non-coding_Transcript	NM_020321	NP_064717	Q9UHC3	ACCN3_HUMAN	Homo sapiens amiloride-sensitive cation channel 3 (ACCN3), transcript variant 2, mRNA.	156					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										CTGGGCACTCCCTGGATGACA	0.657000														52			16		0	0	0.004990	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938890	2938890	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:2938890G>A	uc001ajz.3	+	0	845	c.640G>A	c.(640-642)Gac>Aac	p.D214N		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	214						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GGGTCTCGTGGACGACATCAA	0.642000														54			21		0	0	0.002299	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58850520	58850520	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:58850520C>A	uc002qsc.2	+	2	1451	c.1304C>A	c.(1303-1305)cCa>cAa	p.P435Q	ZSCAN22_uc010yhz.1_3'UTR	NM_181846	NP_862829	P10073	ZSC22_HUMAN	Homo sapiens zinc finger and SCAN domain containing 22 (ZSCAN22), mRNA.	435					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GGAGAGAAGCCATATCAGTGT	0.562000														59			17		6.44725e-10	7.09683e-10	0.002299	1	0
C1S	716	broad.mit.edu	37	12	7170352	7170352	+	Silent	SNP	T	A	A	rs150797595		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:7170352T>A	uc001qsj.3	+	6	1091	c.372T>A	c.(370-372)gcT>gcA	p.A124A	C1S_uc001qsk.3_Silent_p.A124A|C1S_uc001qsl.3_Silent_p.A124A|C1S_uc009zfr.3_5'UTR|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	124	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	p.F123L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CGGGGTTTGCTGCATACTATG	0.438000														76			19		0	0	0.002299	0	0
TG	7038	broad.mit.edu	37	8	133894774	133894774	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:133894774C>T	uc003ytw.3	+	6	847	c.806C>T	c.(805-807)tCc>tTc	p.S269F		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	269	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GACCTTCCTTCCACCTTCACT	0.463000														125			41		0	0	0.008740	0	0
CPNE4	131034	broad.mit.edu	37	3	131274351	131274351	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:131274351G>A	uc011blq.2	-	11	1270	c.1160C>T	c.(1159-1161)cCa>cTa	p.P387L	CPNE4_uc003eok.3_Missense_Mutation_p.P369L|CPNE4_uc003eol.3_Missense_Mutation_p.P387L|CPNE4_uc003eom.3_Missense_Mutation_p.P369L	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	369	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CGTGTACTCTGGAGGTATCCT	0.428000														38			12		0	0	0.002450	0	0
CWC25	54883	broad.mit.edu	37	17	36977268	36977268	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:36977268G>A	uc002hqu.3	-	1	230	c.77C>T	c.(76-78)gCc>gTc	p.A26V	CWC25_uc010wdv.2_5'UTR|CWC25_uc010wdx.1_Non-coding_Transcript	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN	Homo sapiens CWC25 spliceosome-associated protein homolog (S. cerevisiae) (CWC25), mRNA.	26										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						CTTCTGCTCGGCCTTCCACAC	0.537000														28			40		0	0	0.009718	0	0
JUP	3728	broad.mit.edu	37	17	39919277	39919277	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:39919277G>A	uc002hxq.2	-	7	1732	c.1455C>T	c.(1453-1455)atC>atT	p.I485I	JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Silent_p.I485I|JUP_uc002hxs.2_Silent_p.I485I	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	485					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCAGCTTCACGATGGCTGGGA	0.622000														25			17		0	0	0.007413	0	0
PDZD2	23037	broad.mit.edu	37	5	32071494	32071494	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:32071494C>T	uc003jhl.3	+	15	2926	c.2538C>T	c.(2536-2538)acC>acT	p.T846T	PDZD2_uc003jhm.3_Silent_p.T846T|PDZD2_uc011cnx.1_Silent_p.T672T	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	846					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAACAGGTACCCCCTTGAAGA	0.468000														74			23		0	0	0.003954	0	0
RYR3	6263	broad.mit.edu	37	15	34129148	34129148	+	Silent	SNP	C	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:34129148C>G	uc001zhi.3	+	87	11680	c.11610C>G	c.(11608-11610)ctC>ctG	p.L3870L	RYR3_uc010bar.3_Silent_p.L3865L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3870					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCTTGGATCTCCTTCAGGACA	0.488000														15			7		0	0	0.003080	0	0
F2	2147	broad.mit.edu	37	11	46747500	46747500	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:46747500G>A	uc001ndf.4	+	6	694	c.651G>A	c.(649-651)cgG>cgA	p.R217R		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	217	Kringle 2.				STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	p.R217Q(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	TCCCTGATCGGGGGCAGCAGT	0.642000														43			14		0	0	0.001855	0	0
AADACL2	344752	broad.mit.edu	37	3	151474789	151474789	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:151474789G>A	uc003ezc.3	+	4	733	c.613G>A	c.(613-615)Gat>Aat	p.D205N	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_5'UTR	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	205						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GGTGCAGAATGATGCTGAAAT	0.318000														40			10		0	0	0.000978	0	0
TIAM1	7074	broad.mit.edu	37	21	32638800	32638800	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:32638800C>T	uc002yow.1	-	4	961	c.489G>A	c.(487-489)gcG>gcA	p.A163A	TIAM1_uc011adk.1_Silent_p.A163A|TIAM1_uc011adl.1_Silent_p.A163A|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	163					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCTTAAAGCTCGCCGTCTCCA	0.512000														30			44		0	0	0.003610	0	0
C15orf23	90417	broad.mit.edu	37	15	40675107	40675107	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:40675107C>T	uc001zll.3	+	0	186	c.71C>T	c.(70-72)tCc>tTc	p.S24F	C15orf23_uc001zlo.3_Missense_Mutation_p.S24F|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.S24F	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	24						nucleus	protein binding	p.S24F(2)		central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		GAGTGCGATTCCCACCCACTT	0.567000														14			23		0	0	0.002299	0	0
SI	6476	broad.mit.edu	37	3	164712147	164712147	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:164712147C>T	uc003fei.3	-	40	4802	c.4739G>A	c.(4738-4740)aGg>aAg	p.R1580K		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1580	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)	TAGAATATTCCTTGACATTTC	0.353000										HNSCC(35;0.089)				50			23		0	0	0.004656	0	0
FNDC1	84624	broad.mit.edu	37	6	159677661	159677661	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:159677661G>A	uc010kjv.3	+	17	5372	c.5172G>A	c.(5170-5172)acG>acA	p.T1724T		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1724	Fibronectin type-III 5.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCCCAACACGAGGTACGATG	0.423000														73			24		0	0	0.003330	0	0
HAO1	54363	broad.mit.edu	37	20	7895041	7895041	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:7895041C>T	uc002wmw.1	-	2	339	c.315G>A	c.(313-315)atG>atA	p.M105I	HAO1_uc010gbu.3_Missense_Mutation_p.M105I	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.	105	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AACTCAACATCATGCCCGTTC	0.517000														22			6		0	0	0.001984	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3395096	3395096	+	Silent	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:3395096C>A	uc001akg.4	+	11	1982	c.1734C>A	c.(1732-1734)tcC>tcA	p.S578S	ARHGEF16_uc001aki.3_Silent_p.S290S|ARHGEF16_uc001akj.3_Silent_p.S290S|ARHGEF16_uc010nzh.2_Silent_p.S282S	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	578	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GTAGCTCCTCCGTGCCCCACC	0.662000														43			27		2.65835e-16	2.93558e-16	0.007291	1	0
C16orf45	89927	broad.mit.edu	37	16	15528612	15528612	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:15528612G>A	uc002ddo.3	+	0	288	c.102G>A	c.(100-102)ggG>ggA	p.G34G		NM_033201	NP_149978	Q96MC5	CP045_HUMAN	Homo sapiens chromosome 16 open reading frame 45 (C16orf45), transcript variant 1, mRNA.	34				MELKQSLSTHLEAEKPLRRYGAVEETAWKTERLGRN -> M WGDLTETGCMGRRSAKKD (in Ref. 3; AAH23603).				p.G34R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						AGAGACTGGGGAGAAGTGAGT	0.652000														37			14		0	0	0.003163	0	0
FAM48B1	100130302	broad.mit.edu	37	X	24382737	24382737	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:24382737C>T	uc011mjx.2	+	0	1860	c.1860C>T	c.(1858-1860)gcC>gcT	p.A620A		NM_001136234	NP_001129706			Homo sapiens family with sequence similarity 48, member B1 (FAM48B1), mRNA.											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(1)|skin(1)	26						TCCAGGGAGCCCAGGCTTTGG	0.602000														5			14		0	0	0.001855	0	0
EGFLAM	133584	broad.mit.edu	37	5	38464033	38464033	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:38464033C>T	uc003jlc.2	+	22	3345	c.2999C>T	c.(2998-3000)tCc>tTc	p.S1000F	EGFLAM_uc003jlb.2_Missense_Mutation_p.S992F|EGFLAM_uc003jle.2_Missense_Mutation_p.S758F|EGFLAM_uc003jlf.2_Missense_Mutation_p.S358F|EGFLAM_uc003jlg.2_Missense_Mutation_p.S135F|EGFLAM_uc003jlh.2_Missense_Mutation_p.S82F	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	1000	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TACCACATTTCCCTCGTGGAA	0.498000														37			17		0	0	0.006122	0	0
TST	7263	broad.mit.edu	37	22	37407092	37407092	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:37407092G>A	uc003aqg.3	-	1	1565	c.870C>T	c.(868-870)tcC>tcT	p.S290S	TST_uc003aqh.3_Silent_p.S290S	NM_003312	NP_003303	Q16762	THTR_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese) (TST), nuclear gene encoding mitochondrial protein, mRNA.	290					cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						ACTTTCCCTGGGACACACGGC	0.602000														58			24		0	0	0.002096	0	0
SGCZ	137868	broad.mit.edu	37	8	13965684	13965684	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:13965684G>A	uc003wwq.3	-	5	1268	c.608C>T	c.(607-609)tCc>tTc	p.S203F	SGCZ_uc010lss.3_Missense_Mutation_p.S156F	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	190					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GAGATCTTGGGATGGCTCTGC	0.443000														31			14		0	0	0.007413	0	0
DCC	1630	broad.mit.edu	37	18	50592482	50592482	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:50592482G>A	uc002lfe.2	+	6	1823	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	DCC_uc010xdr.1_Missense_Mutation_p.E251K|DCC_uc010dpf.2_Missense_Mutation_p.E58K	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	403	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.E403K(2)		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)		ATGTGTGGCTGAAAATGAGGC	0.438000														45			19		0	0	0.007413	0	0
NUP205	23165	broad.mit.edu	37	7	135279449	135279449	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:135279449C>T	uc003vsw.3	+	12	2016	c.1985C>T	c.(1984-1986)tCc>tTc	p.S662F		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	662					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATTGCTGCTTCCCTCTGGCAG	0.448000														32			13		0	0	0.004007	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35130016	35130016	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:35130016G>A	uc003teq.1	-	20	2276	c.1169C>T	c.(1168-1170)tCt>tTt	p.S390F	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		TTCTTTGGCAGATTTTCGACT	0.289000														68			32		0	0	0.002836	0	0
PPFIA1	8500	broad.mit.edu	37	11	70183477	70183477	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:70183477C>T	uc001opo.3	+	11	1650	c.1435C>T	c.(1435-1437)Ctt>Ttt	p.L479F	PPFIA1_uc001opn.2_Missense_Mutation_p.L479F|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	479					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TCAGAACTCTCTTTTAAGAGA	0.333000														6			3		0	0	0.009096	0	0
CASC1	55259	broad.mit.edu	37	12	25314098	25314098	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:25314098C>T	uc001rgk.3	-	2	137	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	CASC1_uc001rgj.3_5'UTR|CASC1_uc001rgm.4_Missense_Mutation_p.E77K|CASC1_uc001rgl.3_Missense_Mutation_p.E13K|CASC1_uc010sje.2_Intron|CASC1_uc010sjf.2_5'UTR|CASC1_uc010sjg.1_Missense_Mutation_p.E13K|CASC1_uc010sjh.1_Non-coding_Transcript	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA.	13										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TTCAATCGTTCAGCTTTGGTG	0.368000														94			721		0	0	0.003610	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209591	140209591	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140209591G>A	uc003lho.2	+	0	1942	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Missense_Mutation_p.E639K	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	650	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCTGGACGAAGCGGACTC	0.667000														31			10		0	0	0.008291	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208725854	208725854	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:208725854G>A	uc002vcl.2	-	6	2573	c.2083C>T	c.(2083-2085)Cct>Tct	p.P695S		NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	695					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTCAAAAGGGTAGAGGATC	0.403000														83			27		0	0	0.002445	0	0
PSG3	5671	broad.mit.edu	37	19	43242934	43242934	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:43242934G>A	uc002oue.3	-	1	504	c.372C>T	c.(370-372)atC>atT	p.I124I	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	124	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CTCGCTTTACGATGTGTAAGG	0.517000														289			47		0	0	0.003610	0	0
CLDN11	5010	broad.mit.edu	37	3	170140970	170140970	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:170140970C>T	uc003fgx.3	+	1	448	c.246C>T	c.(244-246)cgC>cgT	p.R82R	CLDN11_uc011bpt.1_Silent_p.R82R|CLDN11_uc003fgy.3_5'UTR	NM_005602	NP_001171985	O75508	CLD11_HUMAN	Homo sapiens claudin 11 (CLDN11), transcript variant 1, mRNA.	82					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AGGCCTGCCGCGCCCTGATGA	0.597000														113			30		0	0	0.004289	0	0
FBXW10	10517	broad.mit.edu	37	17	18671950	18671950	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:18671950G>A	uc002gul.3	+	8	2127	c.1895G>A	c.(1894-1896)gGg>gAg	p.G632E	FBXW10_uc002guj.3_Missense_Mutation_p.G603E|FBXW10_uc002guk.3_Missense_Mutation_p.G603E|FBXW10_uc010cqh.2_Missense_Mutation_p.G603E	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	603										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AGCATGGTGGGGAAGTACGAG	0.582000														14			12		0	0	0.004007	0	0
FREM1	158326	broad.mit.edu	37	9	14842657	14842657	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:14842657C>T	uc003zlm.3	-	10	2210	c.1394_splice	c.e10-1	p.G465_splice	FREM1_uc010mic.3_Splice_Site	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	465					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ACCCTTTCCCCCCTGAGGGAG	0.537000														28			24		0	0	0.002780	0	0
C16orf78	123970	broad.mit.edu	37	16	49433081	49433081	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:49433081C>T	uc002efr.3	+	4	733	c.690C>T	c.(688-690)ctC>ctT	p.L230L		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	230										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GGACCTTGCTCAAGTTGTGCA	0.468000														46			27		0	0	0.007291	0	0
KRT24	192666	broad.mit.edu	37	17	38859631	38859631	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:38859631G>A	uc002hvd.3	-	0	372	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	105	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				AACTCCCACAGAATCCAGAAC	0.567000														80			23		0	0	0.001882	0	0
VPS45	11311	broad.mit.edu	37	1	150116887	150116887	+	Splice_Site	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:150116887T>C	uc001etp.3	+	15	2199	c.1626_splice	c.e15-1	p.S542_splice	VPS45_uc010pbq.2_Splice_Site_p.S506_splice|VPS45_uc010pbs.2_Splice_Site_p.F469_splice|VPS45_uc001etq.3_Splice_Site_p.S362_splice	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	Homo sapiens vacuolar protein sorting 45 homolog (S. cerevisiae) (VPS45), mRNA.	542					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	Golgi membrane|endosome membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TACTTATCAGTTTCCTAGAGG	0.428000														39			16		0	0	0.004007	0	0
TSSK4	283629	broad.mit.edu	37	14	24676380	24676380	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:24676380G>A	uc001wnh.3	+	2	703	c.499G>A	c.(499-501)Gac>Aac	p.D167N	TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.3_Missense_Mutation_p.D81N|TSSK4_uc001wnf.3_Missense_Mutation_p.D87N|TSSK4_uc001wng.3_Missense_Mutation_p.D157N	NM_001184739	NP_001171668	Q6SA08	TSSK4_HUMAN	Homo sapiens testis-specific serine kinase 4 (TSSK4), transcript variant 1, mRNA.	157	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		CCTGTTGCTGGACAAGTGGGA	0.522000														69			56		0	0	0.003610	0	0
OR51S1	119692	broad.mit.edu	37	11	4869580	4869580	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4869580G>A	uc010qyo.2	-	0	859	c.859C>T	c.(859-861)Cat>Tat	p.H287Y		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAAGGAAATGGACATAGGAT	0.448000														54			14		0	0	0.004990	0	0
KIF21B	23046	broad.mit.edu	37	1	200950134	200950134	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:200950134G>A	uc001gvs.2	-	28	4250	c.3933C>T	c.(3931-3933)atC>atT	p.I1311I	KIF21B_uc009wzl.2_Silent_p.I1311I|KIF21B_uc001gvr.2_Silent_p.I1298I|KIF21B_uc010ppn.2_Silent_p.I1298I	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1311					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCAGGCAGAGGATGGGCTTGG	0.612000														41			17		0	0	0.007413	0	0
ADRA2B	151	broad.mit.edu	37	2	96781379	96781380	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:96781379_96781380GG>TA	uc021vlh.1	-	0	509_510	c.509_510CC>TA	c.(508-510)gcc>gTA	p.A170V		NM_000682	NP_000673	P18089	ADA2B_HUMAN	Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	170					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GGATGTACCAGGCCTCCTGGTT	0.629000														29			10		0	0	0.004672	0	0
MMEL1	79258	broad.mit.edu	37	1	2523021	2523021	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:2523021C>T	uc001ajy.2	-	22	2429	c.2215G>A	c.(2215-2217)Gac>Aac	p.D739N	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	739					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CTGTGGACGTCTGTCTTGATG	0.627000														107			46		0	0	0.003610	0	0
ZIM3	114026	broad.mit.edu	37	19	57649931	57649931	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:57649931G>A	uc002qnz.1	-	2	437	c.51C>T	c.(49-51)ttC>ttT	p.F17F		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	17	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		CCCCCTGGGTGAAGTTCACAG	0.493000														56			30		0	0	0.003755	0	0
LHCGR	3973	broad.mit.edu	37	2	48915774	48915774	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:48915774G>A	uc002rwu.4	-	10	1232	c.1162C>T	c.(1162-1164)Cgt>Tgt	p.R388C	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	388					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.S387I(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AGTTTGTAACGACTTGTCAGG	0.428000														35			21		0	0	0.010504	0	0
CLCNKA	1187	broad.mit.edu	37	1	16353030	16353031	+	Splice_Site	DNP	GG	AT	AT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:16353030_16353031GG>AT	uc001axu.3	+	6	579	c.499_splice	c.e6-1	p.G167_splice	CLCNKA_uc001axt.3_Splice_Site|CLCNKA_uc010obw.2_Splice_Site_p.G124_splice|CLCNKA_uc001axv.3_Splice_Site_p.G167_splice|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank|CLCNKA_uc021ogl.1_5'Flank	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	167					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCCCTCTGCAGGGCCCTTTCGT	0.658000														55			9		0	0	0.004672	0	0
COL19A1	1310	broad.mit.edu	37	6	70840075	70840075	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:70840075G>A	uc003pfc.1	+	18	1459	c.1342_splice	c.e18-1	p.G448_splice	COL19A1_uc010kam.2_Splice_Site_p.G344_splice	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	448	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CACCCCTAGGGAAATGATGAA	0.363000														11			6		0	0	0.001984	0	0
F2RL2	2151	broad.mit.edu	37	5	75914292	75914292	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:75914292C>T	uc003kem.3	-	1	425	c.240G>A	c.(238-240)gtG>gtA	p.V80V	IQGAP2_uc003kek.3_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.2_Intron|IQGAP2_uc003kel.3_Intron|F2RL2_uc011csw.2_Silent_p.V58V	NM_004101	NP_004092	O00254	PAR3_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 2 (F2RL2), mRNA.	80					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		TAGCATTTTTCACATGGAGAT	0.473000														96			26		0	0	0.007291	0	0
DSG3	1830	broad.mit.edu	37	18	29052370	29052370	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:29052370C>T	uc002kws.3	+	12	2130	c.2021C>T	c.(2020-2022)gCc>gTc	p.A674V	DSG3_uc002kwt.3_5'Flank	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	674					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)			ATTGAAGGAGCCCATCCTGAA	0.418000														32			13		0	0	0.001368	0	0
FAAH	2166	broad.mit.edu	37	1	46872007	46872007	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:46872007C>T	uc001cpu.2	+	6	1000	c.918C>T	c.(916-918)gaC>gaT	p.D306D	FAAH_uc001cpv.2_Intron	NM_001441	NP_001432	O00519	FAAH1_HUMAN	Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	306					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	TCCGCTTGGACCCCACTGTGC	0.662000											OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			16		0	0	0.007413	0	0
ZNF319	57567	broad.mit.edu	37	16	58030886	58030886	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:58030886G>A	uc002emx.1	-	1	1907	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	ZNF319_uc021tjd.1_Silent_p.F428F	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	Homo sapiens zinc finger protein 319 (ZNF319), mRNA.	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CAGGGCACTTGAAGGGCCGCT	0.667000														21			6		0	0	0.001984	0	0
SPATA17	128153	broad.mit.edu	37	1	217955562	217955562	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:217955562C>T	uc001hlh.1	+	7	796	c.770C>T	c.(769-771)cCt>cTt	p.P257L	SPATA17_uc009xdr.1_Non-coding_Transcript	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA.	257						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		CGCTACAGGCCTTTGGAGCCA	0.443000														42			22		0	0	0.004656	0	0
UTRN	7402	broad.mit.edu	37	6	145069578	145069578	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:145069578C>T	uc003qkt.3	+	53	8228	c.8136C>T	c.(8134-8136)tcC>tcT	p.S2712S		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	2712					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGGCAGAGTCCGTGCGGAATG	0.493000														25			10		0	0	0.006214	0	0
PLXNB2	23654	broad.mit.edu	37	22	50722331	50722331	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:50722331G>A	uc003bkv.4	-	13	2445	c.2352C>T	c.(2350-2352)ggC>ggT	p.G784G	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	784					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACCTGCTCTGGCCCCCGCACC	0.672000														3			4		0	0	0.009096	0	0
SYCP1	6847	broad.mit.edu	37	1	115487549	115487549	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:115487549T>C	uc001efr.3	+	24	2309	c.2100T>C	c.(2098-2100)gaT>gaC	p.D700D	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Silent_p.D700D|SYCP1_uc009wgw.3_Silent_p.D700D	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	700					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGAAATTGATAAGCGATGTC	0.264000														21			9		0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179633554	179633554	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179633554C>T	uc021vsy.1	-	37	9234	c.9009G>A	c.(9007-9009)aaG>aaA	p.K3003K	TTN_uc021vsz.1_Silent_p.K2957K|TTN_uc021vta.1_Silent_p.K2957K|TTN_uc021vtb.1_Silent_p.K2957K|TTN_uc002unb.2_Silent_p.K3003K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3003	Ig-like 17.						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)			CCACACCATTCTTTAACCATT	0.403000														42			12		0	0	0.000978	0	0
XKR3	150165	broad.mit.edu	37	22	17288907	17288907	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:17288907C>T	uc002zlv.3	-	1	155	c.57G>A	c.(55-57)tcG>tcA	p.S19S	XKR3_uc011agf.2_Silent_p.S19S	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	19						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TTTCTTCTTTCGAAGATGAAA	0.423000														92			17		0	0	0.008871	0	0
SLC9B1	150159	broad.mit.edu	37	4	103912820	103912820	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:103912820G>A	uc003hww.3	-	1	191	c.49C>T	c.(49-51)Caa>Taa	p.Q17*	SLC9B1_uc003hwu.3_Nonsense_Mutation_p.Q17*|SLC9B1_uc010ilm.3_5'UTR|SLC9B1_uc003hwv.3_Non-coding_Transcript|SLC9B1_uc011cev.2_5'UTR	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 (SLC9B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	17						integral to membrane	solute:hydrogen antiporter activity										GTAGATGTTTGGAAGTTTTCA	0.259000														4			4		0	0	0.003080	0	0
SELP	6403	broad.mit.edu	37	1	169581510	169581510	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:169581510T>C	uc001ggi.4	-	5	971	c.906A>G	c.(904-906)gaA>gaG	p.E302E	SELP_uc001ggh.3_Silent_p.E137E|SELP_uc009wvr.3_Silent_p.E302E	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	302	Sushi 2.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ATTGCACCACTTCCGGTCCAA	0.502000														82			31		0	0	0.004289	0	0
OR2M4	26245	broad.mit.edu	37	1	248403085	248403085	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248403085G>A	uc010pzh.2	+	0	855	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCCCTATGCTGAACCCTCTCA	0.433000														30			21		0	0	0.002299	0	0
AK302879	0	broad.mit.edu	37	15	76075183	76075183	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:76075183C>T	uc010umm.1	+	9	823	c.746C>T	c.(745-747)cCc>cTc	p.P249L	DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank|DQ582208_uc021sqs.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																		CCCCGGCACCCCCAGCAGTGA	0.557000														7			10		0	0	0.006214	0	0
ACTN2	88	broad.mit.edu	37	1	236918447	236918447	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:236918447C>T	uc001hyf.2	+	16	2307	c.2103C>T	c.(2101-2103)ctC>ctT	p.L701L	ACTN2_uc001hyg.2_Silent_p.L493L|ACTN2_uc009xgi.1_Silent_p.L701L|ACTN2_uc010pxu.1_Silent_p.L390L	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	701					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ACCATCAGCTCATCCAGGAGG	0.537000														98			51		0	0	0.003610	0	0
MRAP2	112609	broad.mit.edu	37	6	84799011	84799011	+	Silent	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:84799011A>G	uc003pkg.4	+	3	619	c.429A>G	c.(427-429)caA>caG	p.Q143Q	MRAP2_uc010kbo.3_Silent_p.Q57Q	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.	143					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						GTGACGTCCAACTCCAGGAAG	0.522000														57			19		0	0	0.007413	0	0
SBF1	6305	broad.mit.edu	37	22	50885667	50885667	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:50885667C>T	uc003blh.3	-	40	5781	c.5586G>A	c.(5584-5586)gtG>gtA	p.V1862V	SBF1_uc003ble.3_Silent_p.V326V|SBF1_uc011arx.2_Silent_p.V1500V	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1836	PH.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCGTTGTCTTCACCTGGGGAA	0.657000														19			14		0	0	0.002450	0	0
LTBP1	4052	broad.mit.edu	37	2	33540282	33540282	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:33540282C>T	uc021vft.1	+	23	3699	c.3676C>T	c.(3676-3678)Cat>Tat	p.H1226Y	LTBP1_uc002rou.3_Missense_Mutation_p.H900Y|LTBP1_uc002rov.3_Missense_Mutation_p.H847Y|LTBP1_uc010ymz.2_Missense_Mutation_p.H900Y|LTBP1_uc010yna.2_Missense_Mutation_p.H847Y|LTBP1_uc010ynb.2_Missense_Mutation_p.H166Y	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1226	EGF-like 12; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGGTTCTTTCCATTGTGTCTG	0.413000														29			14		0	0	0.004990	0	0
HECTD1	25831	broad.mit.edu	37	14	31598524	31598524	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:31598524G>A	uc001wrc.1	-	24	4542	c.4053C>T	c.(4051-4053)tcC>tcT	p.S1351S	HECTD1_uc001wrb.1_5'Flank|HECTD1_uc001wrd.1_Intron	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	1351	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTGAAACAGTGGATGAAACAG	0.493000														49			50		0	0	0.003610	0	0
UNC93A	54346	broad.mit.edu	37	6	167705012	167705012	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:167705012C>T	uc003qvq.3	+	0	210	c.35C>T	c.(34-36)tCc>tTc	p.S12F	UNC93A_uc003qvr.3_Missense_Mutation_p.S12F	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	12						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CTTGTGGTTTCCTTTGGGTTC	0.453000														51			25		0	0	0.005443	0	0
STEAP4	79689	broad.mit.edu	37	7	87912231	87912231	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:87912231G>A	uc022agz.1	-	3	932	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C	STEAP4_uc003ujs.3_Missense_Mutation_p.R237C|STEAP4_uc010lek.3_Intron	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	237					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					ATAGCCATACGAAATGTATTA	0.363000														39			10		0	0	0.000978	0	0
MARK1	4139	broad.mit.edu	37	1	220777408	220777408	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:220777408G>A	uc009xdw.3	+	6	1022	c.425_splice	c.e6-1	p.G142_splice	MARK1_uc001hmn.4_Splice_Site_p.G142_splice|MARK1_uc010pun.2_Splice_Site_p.G142_splice|MARK1_uc001hmm.4_Splice_Site_p.G120_splice	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	142	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTCTGATTCAGGTGAAGTATT	0.323000														32			9		0	0	0.004482	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786323	121786323	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:121786323G>A	uc003ksw.1	+	9	1987	c.1781G>A	c.(1780-1782)gGg>gAg	p.G594E	SNCAIP_uc011cwl.1_Missense_Mutation_p.G152E|SNCAIP_uc003ksy.1_Missense_Mutation_p.G228E|SNCAIP_uc003ksx.1_Missense_Mutation_p.G641E|SNCAIP_uc003ksz.1_Missense_Mutation_p.G228E|SNCAIP_uc010jcu.2_Missense_Mutation_p.G190E|SNCAIP_uc011cwm.1_Missense_Mutation_p.G228E|SNCAIP_uc003kta.1_Missense_Mutation_p.G226E|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.G288E|SNCAIP_uc010jcx.1_Missense_Mutation_p.G534E|BC029465_uc003ktb.1_Non-coding_Transcript|SNCAIP_uc003ktc.1_Missense_Mutation_p.G110E	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	594					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GTCCAAGAGGGGATTCAGGTT	0.478000														47			17		0	0	0.004990	0	0
OBSL1	23363	broad.mit.edu	37	2	220422727	220422727	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:220422727G>A	uc010fwk.3	-	10	3922	c.3608C>T	c.(3607-3609)cCc>cTc	p.P1203L	OBSL1_uc002vmh.1_Missense_Mutation_p.P194L|OBSL1_uc010zli.1_Missense_Mutation_p.P102L|OBSL1_uc010fwl.2_Missense_Mutation_p.P1203L	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	1203	Ig-like 10.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCAGACCACGGGGGCGCCAGC	0.682000														15			10		0	0	0.006214	0	0
TRHR	7201	broad.mit.edu	37	8	110131616	110131616	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:110131616C>T	uc003ymz.4	+	1	1218	c.1129C>T	c.(1129-1131)Ctg>Ttg	p.L377L		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	377						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TGACACTTACCTGTCTGCCAC	0.423000														68			25		0	0	0.004656	0	0
ZNF536	9745	broad.mit.edu	37	19	30936569	30936569	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:30936569C>T	uc002nsu.1	+	1	2238	c.2100C>T	c.(2098-2100)gtC>gtT	p.V700V	ZNF536_uc010edd.1_Silent_p.V700V	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	700					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)					AGAGCGGGGTCGGAGGCGGCC	0.692000														22			10		0	0	0.006214	0	0
LARGE	9215	broad.mit.edu	37	22	33673202	33673202	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:33673202G>A	uc003and.4	-	14	2496	c.1917C>T	c.(1915-1917)ttC>ttT	p.F639F	LARGE_uc011amd.2_Silent_p.F438F|LARGE_uc003ane.4_Silent_p.F639F|LARGE_uc010gwp.3_Silent_p.F587F|LARGE_uc011ame.2_Silent_p.F571F|LARGE_uc011amf.2_Silent_p.F590F	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	639					N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	p.F639F(4)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GCCACTTGGCGAAGTTTGTGG	0.582000														19			5		0	0	0.001168	0	0
BCHE	590	broad.mit.edu	37	3	165547537	165547537	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:165547537G>A	uc003fem.4	-	1	1445	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S	BCHE_uc003fen.4_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	429					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TCCAAGGCAGGGCATATGAAA	0.433000														41			31		0	0	0.007291	0	0
MAP3K2	10746	broad.mit.edu	37	2	128079620	128079620	+	Splice_Site	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:128079620A>C	uc002toj.2	-	11	1145	c.1045_splice	c.e11+1	p.S349_splice		NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 2 (MAP3K2), mRNA.	349					activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		TCTATTACTTACAACGGCTGG	0.373000														7			7		0	0	0.003080	0	0
OPLAH	26873	broad.mit.edu	37	8	145111556	145111556	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:145111556G>A	uc003zar.3	-	12	1891	c.1809C>T	c.(1807-1809)ccC>ccT	p.P603P	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	603							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CCCCCGCACGGGGCGAGCGGG	0.672000														20			6		0	0	0.001168	0	0
MYH1	4619	broad.mit.edu	37	17	10402081	10402081	+	Missense_Mutation	SNP	C	T	T	rs146728905		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10402081C>T	uc002gmo.3	-	29	4137	c.4043G>A	c.(4042-4044)cGg>cAg	p.R1348Q	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1348						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.R1348W(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ATACTGTTCCCGCAGCAGGTC	0.507000														28			32		0	0	0.006999	0	0
RARS	5917	broad.mit.edu	37	5	167944974	167944974	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:167944974C>T	uc003lzx.3	+	13	1821	c.1780C>T	c.(1780-1782)Ctc>Ttc	p.L594F	RARS_uc011deo.2_Missense_Mutation_p.L388F	NM_002887	NP_002878	P54136	SYRC_HUMAN	Homo sapiens arginyl-tRNA synthetase (RARS), mRNA.	594					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TGACTTATTTCTCCACACTCT	0.408000														27			10		0	0	0.006214	0	0
MCTP2	55784	broad.mit.edu	37	15	94884146	94884147	+	Missense_Mutation	DNP	AG	CA	CA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:94884146_94884147AG>CA	uc002btj.3	+	5	1027_1028	c.962_963AG>CA	c.(961-963)aag>aCA	p.K321T	MCTP2_uc010urg.1_Missense_Mutation_p.K321T|MCTP2_uc002bti.2_Missense_Mutation_p.K321T|MCTP2_uc010boj.3_Missense_Mutation_p.K50T|MCTP2_uc010bok.3_Missense_Mutation_p.K321T|MCTP2_uc002btg.4_Missense_Mutation_p.K321T|MCTP2_uc002bth.4_Missense_Mutation_p.K321T	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	321					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGTGATTTCAAGAGACACGTAA	0.376000														13			5		0	0	0.004672	0	0
PTPN3	5774	broad.mit.edu	37	9	112168865	112168865	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:112168865C>T	uc004bed.2	-	17	1781	c.1669G>A	c.(1669-1671)Gat>Aat	p.D557N	PTPN3_uc004beb.2_Missense_Mutation_p.D426N|PTPN3_uc004bec.2_Missense_Mutation_p.D381N|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.D512N|PTPN3_uc011lwh.1_Missense_Mutation_p.D403N|PTPN3_uc011lwd.1_Missense_Mutation_p.D25N|PTPN3_uc011lwe.1_Missense_Mutation_p.D270N|PTPN3_uc011lwf.1_Missense_Mutation_p.D225N	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	557	PDZ.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ACGATTTGATCCCCTTCGTTC	0.537000														81			29		0	0	0.002836	0	0
TMEM215	401498	broad.mit.edu	37	9	32784491	32784491	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:32784491G>A	uc022bfh.1	+	0	310	c.310G>A	c.(310-312)Ggc>Agc	p.G104S	TMEM215_uc003zri.4_Missense_Mutation_p.G104S	NM_212558	NP_997723	Q68D42	TM215_HUMAN	Homo sapiens transmembrane protein 215 (TMEM215), mRNA.	104						integral to membrane		p.S103S(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CCTAGAATCCGGCAAGGGGAG	0.602000														34			17		0	0	0.006122	0	0
CYP1A2	1544	broad.mit.edu	37	15	75047367	75047367	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:75047367C>T	uc002ayr.1	+	6	1553	c.1489C>T	c.(1489-1491)Ctg>Ttg	p.L497L		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	497					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CATCTACGGGCTGACCATGAA	0.612000														34			5		0	0	0.000602	0	0
GCET2	257144	broad.mit.edu	37	3	111844080	111844080	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:111844080G>C	uc021xcl.1	-	4	403	c.218C>G	c.(217-219)cCc>cGc	p.P73R	C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dys.2_Missense_Mutation_p.P71R|GCET2_uc021xcm.1_Missense_Mutation_p.P56R	NM_001190259	NP_001177188	Q8N6F7	GCET2_HUMAN	Homo sapiens germinal center expressed transcript 2 (GCET2), transcript variant 3, mRNA.	71						mitochondrion				endometrium(3)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	8						TACCTGGATGGGAGTAGATGA	0.403000														51			7		0	0	0.006214	0	0
SGK196	84197	broad.mit.edu	37	8	42977352	42977352	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:42977352C>T	uc003xpw.2	+	4	644	c.385C>T	c.(385-387)Ctc>Ttc	p.L129F		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	Homo sapiens protein kinase-like protein SgK196 (SGK196), mRNA.	129	Protein kinase.					integral to membrane	ATP binding|protein kinase activity										GCTGAAATCTCTCCAAGGCAC	0.473000														61			22		0	0	0.003954	0	0
SPTAN1	6709	broad.mit.edu	37	9	131390214	131390214	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:131390214C>T	uc004bvl.4	+	49	6827	c.6685C>T	c.(6685-6687)Ctc>Ttc	p.L2229F	SPTAN1_uc004bvm.4_Missense_Mutation_p.L2234F|SPTAN1_uc004bvn.4_Missense_Mutation_p.L2209F|SPTAN1_uc010mye.1_3'UTR|SPTAN1_uc010myf.1_Missense_Mutation_p.L58F|SPTAN1_uc004bvo.4_5'Flank	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	2229					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GACATACCTCCTCGATGGGTT	0.567000														274			68		0	0	0.003610	0	0
LENG8	114823	broad.mit.edu	37	19	54967259	54967259	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:54967259C>T	uc002qfv.1	+	7	1172	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	LENG8_uc002qfw.2_Missense_Mutation_p.S380F			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	343							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGTGCCCCGTCCCAGCGAGGG	0.672000														34			18		0	0	0.004990	0	0
SKAP1	8631	broad.mit.edu	37	17	46262129	46262129	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:46262129C>T	uc002ini.1	-	6	635	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	SKAP1_uc002inj.1_Missense_Mutation_p.E175K|SKAP1_uc010dbd.1_Missense_Mutation_p.E81K|SKAP1_uc010dbe.1_Missense_Mutation_p.E175K	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA.	175	PH.				T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|plasma membrane	SH2 domain binding|antigen binding|protein kinase binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						AAGCAGGATTCTTTCTTGGAA	0.527000														53			116		0	0	0.003610	0	0
PCDH18	54510	broad.mit.edu	37	4	138452772	138452772	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:138452772G>A	uc003ihe.4	-	0	858	c.471C>T	c.(469-471)ccC>ccT	p.P157P	PCDH18_uc003ihf.4_Silent_p.P150P|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_5'UTR|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	157	Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CACTGTCCAGGGGAATGCGAG	0.443000														11			10		0	0	0.000978	0	0
PLEKHA1	59338	broad.mit.edu	37	10	124152833	124152833	+	Silent	SNP	C	T	T	rs142005373		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:124152833C>T	uc001lge.2	+	1	366	c.117C>T	c.(115-117)ttC>ttT	p.F39F	PLEKHA1_uc001lgf.2_Silent_p.F39F|PLEKHA1_uc001lgg.2_Silent_p.F39F	NM_001001974	NP_067635	Q9HB21	PKHA1_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 (PLEKHA1), transcript variant 2, mRNA.	39	PH 1.				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding	p.F39F(4)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AAGATAGTTTCGTGTGGTACA	0.343000														20			4		0	0	0.009096	0	0
COL11A1	1301	broad.mit.edu	37	1	103444981	103444982	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:103444981_103444982CC>TT	uc001dum.3	-	31	2920_2921	c.2602_2603GG>AA	c.(2602-2604)gga>AAa	p.G868K	COL11A1_uc001duk.3_Missense_Mutation_p.G52K|COL11A1_uc001dul.3_Missense_Mutation_p.G856K|COL11A1_uc001dun.3_Missense_Mutation_p.G817K|COL11A1_uc009weh.3_Missense_Mutation_p.G740K	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	856	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.G868V(2)|p.G856V(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCAGGGAATCCAGTGGAACCC	0.342000														23			9		0	0	0.004672	0	0
OR51T1	401665	broad.mit.edu	37	11	4903267	4903267	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4903267G>A	uc010qyp.2	+	0	219	c.219G>A	c.(217-219)atG>atA	p.M73I		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S72R(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAACAGTATGATCTTTCTTG	0.478000														95			24		0	0	0.003330	0	0
FAM92B	339145	broad.mit.edu	37	16	85143948	85143948	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:85143948C>T	uc021tma.1	-	1	295	c.139G>A	c.(139-141)Gac>Aac	p.D47N	FAM92B_uc021tlz.1_Missense_Mutation_p.D47N	NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN	Homo sapiens family with sequence similarity 92, member B (FAM92B), mRNA.	47										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						ACCAGCTGGTCCGCCTTGTCC	0.632000														26			21		0	0	0.001882	0	0
FUT3	2525	broad.mit.edu	37	19	5844471	5844472	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:5844471_5844472GG>AA	uc002mdk.2	-	1	476_477	c.379_380CC>TT	c.(379-381)ccg>TTg	p.P127L	FUT3_uc002mdm.2_Missense_Mutation_p.P127L|FUT3_uc002mdj.2_Missense_Mutation_p.P127L|FUT3_uc002mdl.2_Missense_Mutation_p.P127L|FUT3_uc021unn.1_Missense_Mutation_p.P127L	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	127					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						CTGCCCCTGCGGCCTCGGGGAA	0.599000														55			29		0	0	0.004672	0	0
ADAM30	11085	broad.mit.edu	37	1	120437336	120437336	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:120437336G>A	uc001eij.3	-	0	1812	c.1624C>T	c.(1624-1626)Cga>Tga	p.R542*		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	542	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTAAAATTTCGAATTCCTGTA	0.378000														365			170		0	0	0.003610	0	0
TMEM63C	57156	broad.mit.edu	37	14	77705801	77705801	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:77705801G>A	uc001xtf.2	+	10	984	c.772G>A	c.(772-774)Gac>Aac	p.D258N	TMEM63C_uc010asq.1_Missense_Mutation_p.D258N	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	258						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CTTCTGCTACGACGTCAGGAA	0.622000														39			26		0	0	0.007291	0	0
SLC17A7	57030	broad.mit.edu	37	19	49933984	49933984	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:49933984C>T	uc002pnp.3	-	11	1647	c.1475G>A	c.(1474-1476)gGa>gAa	p.G492E	SLC17A7_uc002pno.3_Missense_Mutation_p.G154E	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	492					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CTGCTTCTCTCCAGAAGCAAA	0.572000														40			20		0	0	0.010504	0	0
TCRB	0	broad.mit.edu	37	7	142099651	142099651	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142099651G>A	uc003vyz.1	-	1	151	c.151C>T	c.(151-153)Ctt>Ttt	p.L51F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Missense_Mutation_p.L51F					SubName: Full=Uncharacterized protein;																		TACCAAAAAAGGGATACATGA	0.517000														42			17		0	0	0.008871	0	0
OR2W1	26692	broad.mit.edu	37	6	29012269	29012269	+	Silent	SNP	C	T	T	rs144276666		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:29012269C>T	uc003nlw.2	-	0	684	c.684G>A	c.(682-684)acG>acA	p.T228T	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T228T(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CTTTTGACTTCGTTCTCAGCA	0.393000														51			34		0	0	0.003271	0	0
KLHL1	57626	broad.mit.edu	37	13	70535503	70535503	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:70535503C>T	uc001vip.3	-	2	1548	c.754G>A	c.(754-756)Gag>Aag	p.E252K	KLHL1_uc010thm.2_Missense_Mutation_p.E191K	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	252	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.E252K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATTTTGATCTCCTCTTGCTTG	0.408000														18			12		0	0	0.002450	0	0
CYP4F11	57834	broad.mit.edu	37	19	16032971	16032971	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:16032971C>T	uc002nbu.2	-	8	1027	c.991G>A	c.(991-993)Gac>Aac	p.D331N	CYP4F11_uc010eab.1_Missense_Mutation_p.D331N|CYP4F11_uc002nbt.2_Missense_Mutation_p.D331N	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	331					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GCTGTAGTGTCATGGCCTGAG	0.562000														39			7		0	0	0.003080	0	0
SCN5A	6331	broad.mit.edu	37	3	38646304	38646304	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38646304C>T	uc021wvo.1	-	9	1486	c.1434G>A	c.(1432-1434)agG>agA	p.R478R	SCN5A_uc021wvk.1_Silent_p.R478R|SCN5A_uc021wvl.1_Silent_p.R478R|SCN5A_uc021wvm.1_Silent_p.R478R|SCN5A_uc021wvn.1_Silent_p.R478R|SCN5A_uc021wvp.1_Silent_p.R478R|SCN5A_uc021wvq.1_Silent_p.R478R|SCN5A_uc021wvr.1_Silent_p.R478R|SCN5A_uc021wvs.1_Silent_p.R478R|SCN5A_uc021wvt.1_Silent_p.R478R|SCN5A_uc021wvu.1_Silent_p.R478R|SCN5A_uc021wvv.1_Silent_p.R478R|SCN5A_uc021wvj.1_Silent_p.R344R|SCN5A_uc021wvi.1_Silent_p.R344R|SCN5A_uc021wvw.1_Silent_p.R89R	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	478					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCCGTTTTCTCCTCTTGCTTC	0.557000														18			6		0	0	0.001168	0	0
LRP1	4035	broad.mit.edu	37	12	57600306	57600306	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:57600306C>T	uc001snd.3	+	75	12107	c.11641C>T	c.(11641-11643)Ctg>Ttg	p.L3881L		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3881					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GATCCGCAGCCTGTTCCCCGG	0.597000														12			14		0	0	0.002450	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130288974	130288974	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:130288974C>T	uc001qgg.4	-	1	1292	c.934G>A	c.(934-936)Gac>Aac	p.D312N		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	312	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		ATGGCCGTGTCGTAGTGCTCT	0.642000														85			8		0	0	0.006214	0	0
C1QC	714	broad.mit.edu	37	1	22973756	22973756	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:22973756G>A	uc001bgc.4	+	2	321	c.218G>A	c.(217-219)gGg>gAg	p.G73E	C1QC_uc001bga.4_Missense_Mutation_p.G73E	NM_172369	NP_758957	P02747	C1QC_HUMAN	Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA.	73	Collagen-like.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGACCCAAAGGGCAGAAGGGA	0.647000														25			16		0	0	0.004990	0	0
GPA33	10223	broad.mit.edu	37	1	167032879	167032879	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:167032879G>A	uc001gea.1	-	3	855	c.511C>T	c.(511-513)Cct>Tct	p.P171S		NM_005814	NP_005805	Q99795	GPA33_HUMAN	Homo sapiens glycoprotein A33 (transmembrane) (GPA33), mRNA.	171	Ig-like C2-type.					integral to plasma membrane	receptor activity	p.P171S(2)		endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CTGTACTGAGGGGTTGGTGAG	0.572000														64			34		0	0	0.005524	0	0
TTN	7273	broad.mit.edu	37	2	179595338	179595338	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179595338G>A	uc021vsy.1	-	57	14415	c.14190C>T	c.(14188-14190)gcC>gcT	p.A4730A	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.A1391A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5657	Ig-like 27.						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)			TTTCCAAGAAGGCAGTATTGT	0.453000														51			32		0	0	0.009535	0	0
TMEM132A	54972	broad.mit.edu	37	11	60694698	60694698	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:60694698G>A	uc001nqi.3	+	1	316	c.123G>A	c.(121-123)ctG>ctA	p.L41L	TMEM132A_uc001nqj.3_Silent_p.L41L|TMEM132A_uc001nqk.3_Silent_p.L54L|TMEM132A_uc001nql.1_Silent_p.L54L	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	41						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						AGGCTCCCCTGGACCCTGTCT	0.637000														57			41		0	0	0.003214	0	0
GABRQ	55879	broad.mit.edu	37	X	151818227	151818227	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:151818227C>T	uc004ffp.1	+	5	653	c.633C>T	c.(631-633)atC>atT	p.I211I		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	211						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TTGAAGACATCATATTATTCT	0.448000														20			27		0	0	0.007291	0	0
TNIP1	10318	broad.mit.edu	37	5	150411874	150411874	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:150411874G>A	uc003lti.3	-	16	2091	c.1850C>T	c.(1849-1851)cCt>cTt	p.P617L	TNIP1_uc011dcn.2_Missense_Mutation_p.P135L|TNIP1_uc010jhq.2_Intron|TNIP1_uc010jho.2_Non-coding_Transcript|TNIP1_uc010jhp.2_Missense_Mutation_p.P500L|TNIP1_uc010jhl.3_Non-coding_Transcript|TNIP1_uc010jhn.3_Intron|TNIP1_uc010jhm.3_Missense_Mutation_p.P553L|TNIP1_uc010jhr.2_Missense_Mutation_p.P617L|TNIP1_uc011dco.2_3'UTR|TNIP1_uc003ltg.3_Missense_Mutation_p.P564L|TNIP1_uc003ltk.3_Missense_Mutation_p.P617L|TNIP1_uc003ltj.3_Missense_Mutation_p.P617L|TNIP1_uc021ygb.1_Missense_Mutation_p.P617L	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	Homo sapiens TNFAIP3 interacting protein 1 (TNIP1), transcript variant 5, mRNA.	617	Pro-rich.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCTGTGGGAGGGTCCATCAC	0.517000														16			6		0	0	0.001168	0	0
NOD1	10392	broad.mit.edu	37	7	30492014	30492014	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:30492014C>G	uc003tav.3	-	5	1542	c.1019G>C	c.(1018-1020)cGc>cCc	p.R340P	NOD1_uc010kvs.2_3'UTR	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	340	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CAGGAACTGGCGCGGGACCTC	0.682000														59			23		0	0	0.004656	0	0
MUC16	94025	broad.mit.edu	37	19	9089866	9089866	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9089866G>A	uc002mkp.3	-	0	2153	c.1949C>T	c.(1948-1950)tCc>tTc	p.S650F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	650	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						TGGAGACACGGAGACTGGGAC	0.552000														87			42		0	0	0.009718	0	0
NEK10	152110	broad.mit.edu	37	3	27216271	27216271	+	Silent	SNP	C	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:27216271C>A	uc010hfk.3	-	5	724	c.495G>T	c.(493-495)ctG>ctT	p.L165L	NEK10_uc003cds.1_Silent_p.L250L|NEK10_uc010hfj.3_Silent_p.L165L			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	853							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GTTCACTTTTCAGGCTGGCTG	0.498000														114			50		8.44121e-28	9.33564e-28	0.003610	1	0
MYO5B	4645	broad.mit.edu	37	18	47563306	47563306	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:47563306G>A	uc002leb.2	-	3	657	c.369C>T	c.(367-369)gtC>gtT	p.V123V	MYO5B_uc021ukb.1_Silent_p.V122V	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	123	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGGTATAGATGACATCTTGTC	0.473000														30			17		0	0	0.004007	0	0
KRT18P55	284085	broad.mit.edu	37	17	26604187	26604187	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:26604187C>T	uc002has.3	-	2	775	c.288G>A	c.(286-288)ggG>ggA	p.G96G						Homo sapiens keratin 18 pseudogene 55 (KRT18P55), non-coding RNA.																		GGCCCCTGGACCCCATGCTGC	0.617000														19			18		0	0	0.010504	0	0
ROR1	4919	broad.mit.edu	37	1	64624850	64624850	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:64624850C>T	uc001dbj.2	+	7	1760	c.1361C>T	c.(1360-1362)tCa>tTa	p.S454L	AK096291_uc001dbl.3_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	454					transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GTAGAGATGTCAATGCTGAAT	0.448000														35			19		0	0	0.010504	0	0
GZMA	3001	broad.mit.edu	37	5	54404085	54404085	+	Missense_Mutation	SNP	G	A	A	rs149445760	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:54404085G>A	uc003jpm.3	+	3	527	c.490G>A	c.(490-492)Gat>Aat	p.D164N		NM_006144	NP_006135	P12544	GRAA_HUMAN	Homo sapiens granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) (GZMA), mRNA.	164	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	p.D164N(2)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ATCTTGGTCCGATACTCTGAG	0.428000														28			5		0	0	0.001984	0	0
ALS2	57679	broad.mit.edu	37	2	202617878	202617878	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:202617878C>T	uc002uyo.3	-	6	2084	c.1728G>A	c.(1726-1728)gcG>gcA	p.A576A	ALS2_uc002uyp.4_Silent_p.A576A|ALS2_uc002uyq.3_Silent_p.A576A	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	576					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CCTGGGATTTCGCAGTAAGTG	0.403000														70			37		0	0	0.007835	0	0
OR51B6	390058	broad.mit.edu	37	11	5372791	5372791	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5372791G>A	uc010qzb.2	+	0	54	c.54G>A	c.(52-54)atG>atA	p.M18I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCCAGGCATGGAGAAGGCAC	0.453000														25			11		0	0	0.001855	0	0
MLIP	90523	broad.mit.edu	37	6	53989330	53989330	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:53989330G>A	uc011dxa.2	+	2	345	c.312G>A	c.(310-312)gcG>gcA	p.A104A	MLIP_uc003pcf.2_Silent_p.A93A|MLIP_uc003pcg.4_Silent_p.A93A|MLIP_uc003pch.4_Silent_p.A31A|MLIP_uc011dwz.1_Silent_p.A52A	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	93						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GAGACCAAGCGAAATTGACTT	0.403000														36			22		0	0	0.002780	0	0
PLGRKT	55848	broad.mit.edu	37	9	5361791	5361791	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:5361791A>T	uc003zjc.3	-	3	460	c.179T>A	c.(178-180)tTt>tAt	p.F60Y	PLGRKT_uc003zjd.3_Missense_Mutation_p.F60Y	NM_018465	NP_060935	Q9HBL7	CI046_HUMAN	Homo sapiens chromosome 9 open reading frame 46 (C9orf46), mRNA.	60						integral to membrane											AAGGCCAAAAAAAGTTCCAAA	0.388000														27			12		0	0	0.001368	0	0
PLCH1	23007	broad.mit.edu	37	3	155199371	155199371	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:155199371A>G	uc021xge.1	-	22	4745	c.4468T>C	c.(4468-4470)Tgc>Cgc	p.C1490R	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.C1452R	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1490					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G1490G(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTGGATTTGCAAGGACTAGGC	0.463000														29			21		0	0	0.008871	0	0
GRIK2	2898	broad.mit.edu	37	6	102250215	102250215	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:102250215G>A	uc003pqp.4	+	7	1398	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	GRIK2_uc003pqn.3_Missense_Mutation_p.E369K|GRIK2_uc010kcw.3_Missense_Mutation_p.E369K|GRIK2_uc003pqo.4_Missense_Mutation_p.E369K|GRIK2_uc021zdk.1_Missense_Mutation_p.E369K|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	369					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GGCACATTGGGAAGGCCTCAC	0.338000														25			12		0	0	0.001368	0	0
CACNA1B	774	broad.mit.edu	37	9	141010047	141010047	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:141010047A>G	uc004cog.3	+	40	5832	c.5687A>G	c.(5686-5688)gAg>gGg	p.E1896G	CACNA1B_uc022bqn.1_Missense_Mutation_p.E1896G|CACNA1B_uc004coi.3_Missense_Mutation_p.E1110G	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1898					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCCACCCTGGAGCAGACACAG	0.597000														110			12		0	0	0.002450	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249928	3249928	+	Silent	SNP	G	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:3249928G>C	uc021qcj.1	-	0	99	c.99C>G	c.(97-99)ctC>ctG	p.L33L	MRGPRE_uc001lxq.4_Silent_p.L33L	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA.	33						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACCGAGGCCGAGCCCCTCGG	0.647000														48			23		0	0	0.003954	0	0
PRMT2	3275	broad.mit.edu	37	21	48068379	48068379	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:48068379T>C	uc002zjx.3	+	5	671	c.337T>C	c.(337-339)Ttg>Ctg	p.L113L	PRMT2_uc021wkc.1_Silent_p.L113L|PRMT2_uc002zjw.3_Silent_p.L113L|PRMT2_uc002zjy.3_Silent_p.L113L|PRMT2_uc010gqm.3_Silent_p.L113L|PRMT2_uc011aga.2_Silent_p.L113L|PRMT2_uc011agb.2_Silent_p.L113L|PRMT2_uc011agc.2_Silent_p.L113L|PRMT2_uc002zjz.1_5'UTR	NM_206962	NP_996845	P55345	ANM2_HUMAN	Homo sapiens protein arginine methyltransferase 2 (PRMT2), transcript variant 1, mRNA.	113	Interaction with RB1 (By similarity).				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		GAAACTCCACTTGGAGATGTT	0.502000														24			28		0	0	0.004656	0	0
ODZ3	55714	broad.mit.edu	37	4	183664443	183664443	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:183664443C>T	uc003ivd.1	+	17	3575	c.3500C>T	c.(3499-3501)gCt>gTt	p.A1167V	ODZ3_uc003ive.1_Missense_Mutation_p.A573V	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1167					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)		AATGGTCAAGCTGATGGTAAC	0.547000														17			13		0	0	0.001368	0	0
YAE1D1	57002	broad.mit.edu	37	7	39612009	39612009	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:39612009C>T	uc003thc.4	+	2	400	c.385C>T	c.(385-387)Cat>Tat	p.H129Y		NM_020192	NP_064577	Q9NRH1	CG036_HUMAN	Homo sapiens Yae1 domain containing 1 (YAE1D1), mRNA.	129																	TCCACCGTCCCATGTTGTAGA	0.378000														56			38		0	0	0.006999	0	0
KIAA1274	27143	broad.mit.edu	37	10	72292515	72292515	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:72292515C>T	uc001jrd.4	+	5	1053	c.772C>T	c.(772-774)Ctc>Ttc	p.L258F		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	258								p.P257P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						CAAGCGGCCCCTCTTCCTGCA	0.627000														55			17		0	0	0.006122	0	0
OVOS2	0	broad.mit.edu	37	12	31279374	31279374	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:31279374G>A	uc010sjy.1	-	25	3379	c.3379C>T	c.(3379-3381)Cat>Tat	p.H1127Y						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AGAATTGCATGATTGTAGCCA	0.428000														22			32		0	0	0.008361	0	0
RUNDC3A	10900	broad.mit.edu	37	17	42389994	42389994	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:42389994G>A	uc002igl.4	+	1	428	c.154G>A	c.(154-156)Gat>Aat	p.D52N	RUNDC3A_uc002igi.3_Missense_Mutation_p.D52N|RUNDC3A_uc002igj.3_Missense_Mutation_p.D52N	NM_001144825	NP_001138297	Q59EK9	RUN3A_HUMAN	Homo sapiens RUN domain containing 3A (RUNDC3A), transcript variant 1, mRNA.	52	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GGAGCCCATCGATGACTCATC	0.597000														2			5		0	0	0.001984	0	0
JMJD1C	221037	broad.mit.edu	37	10	64968329	64968329	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:64968329G>A	uc001jmn.3	-	9	3400	c.3100C>T	c.(3100-3102)Ccc>Tcc	p.P1034S	JMJD1C_uc001jml.3_Missense_Mutation_p.P815S|JMJD1C_uc001jmm.3_Missense_Mutation_p.P746S|JMJD1C_uc010qiq.2_Missense_Mutation_p.P852S|JMJD1C_uc009xpi.3_Missense_Mutation_p.P852S|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Missense_Mutation_p.P71S	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1034					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GTTGTAAAGGGAGCAACATCA	0.408000														78			23		0	0	0.002780	0	0
OR13C4	138804	broad.mit.edu	37	9	107288831	107288831	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:107288831G>A	uc011lvn.2	-	0	660	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGTAGAGGATGAACATATAGG	0.408000														47			27		0	0	0.005443	0	0
TTLL4	9654	broad.mit.edu	37	2	219612839	219612839	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:219612839C>T	uc002viy.3	+	11	2760	c.2390C>T	c.(2389-2391)tCc>tTc	p.S797F	TTLL4_uc010zkl.1_Missense_Mutation_p.S632F|TTLL4_uc010fvx.3_Missense_Mutation_p.S733F|TTLL4_uc010zkm.1_5'UTR	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	797	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TATTCGCCTTCCATGAAGAGC	0.468000														44			21		0	0	0.001882	0	0
KCNQ4	9132	broad.mit.edu	37	1	41303367	41303367	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:41303367G>A	uc001cgh.2	+	12	1858	c.1776G>A	c.(1774-1776)ggG>ggA	p.G592G	KCNQ4_uc001cgi.2_Silent_p.G538G	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	592	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			GGGGGCCCGGGGACAGGAAGG	0.627000														32			8		0	0	0.004482	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1716430	1716430	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:1716430C>T	uc010uvh.2	+	14	2865	c.2865C>T	c.(2863-2865)atC>atT	p.I955I	CRAMP1L_uc002cmf.3_Non-coding_Transcript	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	955						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						CAGGTGCTATCGACTTAGCAG	0.572000														12			4		0	0	0.009096	0	0
PLOD2	5352	broad.mit.edu	37	3	145828077	145828077	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:145828077G>A	uc003evr.1	-	3	1003	c.497C>T	c.(496-498)tCa>tTa	p.S166L	PLOD2_uc011bnm.1_Missense_Mutation_p.S111L|PLOD2_uc003evs.1_Missense_Mutation_p.S166L	NM_182943	NP_891988	O00469	PLOD2_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 (PLOD2), transcript variant 1, mRNA.	166					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CTCACCTCCTGAATTCAGATA	0.358000														44			13		0	0	0.003163	0	0
CACNA1B	774	broad.mit.edu	37	9	140777318	140777318	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:140777318C>T	uc004cog.3	+	2	658	c.513C>T	c.(511-513)ttC>ttT	p.F171F	AK128414_uc004cof.1_Non-coding_Transcript|CACNA1B_uc022bqn.1_Silent_p.F171F	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	171					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCATGGACTTCGTGGTCGTCC	0.607000														229			35		0	0	0.002522	0	0
ZNF831	128611	broad.mit.edu	37	20	57766169	57766169	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:57766169C>T	uc002yan.3	+	0	95	c.95C>T	c.(94-96)tCa>tTa	p.S32L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	32	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGCCAGGCCTCACCTCACCTG	0.697000														42			6		0	0	0.001168	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76523672	76523672	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:76523672G>A	uc002fex.1	+	11	2120	c.1981G>A	c.(1981-1983)Gag>Aag	p.E661K	CNTNAP4_uc002feu.1_Missense_Mutation_p.E657K|CNTNAP4_uc002fev.1_Missense_Mutation_p.E522K|CNTNAP4_uc010chb.1_Missense_Mutation_p.E585K|CNTNAP4_uc002few.2_Missense_Mutation_p.E633K	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	658	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGGGTTTTTCGAGTATGTGGC	0.458000														9			3		0	0	0.004672	0	0
USH2A	7399	broad.mit.edu	37	1	216051165	216051165	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:216051165A>T	uc001hku.1	-	42	9003	c.8616T>A	c.(8614-8616)gaT>gaA	p.D2872E		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2872	Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCGATTTAAATCTTCTGGGG	0.393000										HNSCC(13;0.011)				96			44		0	0	0.002522	0	0
ATRNL1	26033	broad.mit.edu	37	10	117308974	117308974	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:117308974C>T	uc001lcg.3	+	25	4109	c.3723C>T	c.(3721-3723)ttC>ttT	p.F1241F	ATRNL1_uc010qsm.2_Silent_p.F370F|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1241						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCAGTTGTTTCCTATCCTTAT	0.313000														19			9		0	0	0.001368	0	0
MUC2	4583	broad.mit.edu	37	11	1087466	1087466	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:1087466G>A	uc001lsx.1	+	23	3244	c.3217G>A	c.(3217-3219)Gag>Aag	p.E1073K		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1073						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCCCTTCTACGAGGCCTGTGT	0.647000														24			10		0	0	0.001855	0	0
DGKB	1607	broad.mit.edu	37	7	14613992	14613992	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:14613992C>T	uc003ssz.3	-	18	1805	c.1618G>A	c.(1618-1620)Gaa>Aaa	p.E540K	DGKB_uc011jxt.2_Missense_Mutation_p.E521K|DGKB_uc003sta.3_Missense_Mutation_p.E540K|DGKB_uc011jxu.2_Missense_Mutation_p.E539K	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	540	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TTCTCACCTTCGTAACCTAGT	0.323000														57			25		0	0	0.004656	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283749	40283749	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:40283749C>T	uc003ayg.3	-	1	255	c.4G>A	c.(4-6)Gcg>Acg	p.A2T		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	2								p.A2A(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CTCCTGAACGCCATAAGTAAT	0.408000														22			5		0	0	0.001168	0	0
DUS2L	54920	broad.mit.edu	37	16	68108047	68108047	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:68108047C>T	uc002evi.3	+	12	1070	c.921C>T	c.(919-921)tcC>tcT	p.S307S	DUS2L_uc002evj.3_Silent_p.S307S|DUS2L_uc010vkk.2_Silent_p.S272S	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN	Homo sapiens dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae) (DUS2L), mRNA.	307					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		CCCAGTCTTCCCGGGAAATTT	0.527000														23			15		0	0	0.003163	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349360	103349360	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:103349360G>A	uc022cbz.1	-	0	581	c.581C>T	c.(580-582)tCt>tTt	p.S194F	SLC25A53_uc004elu.3_Missense_Mutation_p.S194F	NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN	Homo sapiens mitochondrial carrier triple repeat 6 (MCART6), nuclear gene encoding mitochondrial protein, mRNA.	194					transport	integral to membrane|mitochondrial inner membrane											GTCCTTGAAAGAAAAATATAG	0.552000														12			39		0	0	0.005524	0	0
LRIT2	340745	broad.mit.edu	37	10	85984737	85984737	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:85984737C>T	uc010qmc.2	-	1	252	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	LRIT2_uc001kcy.3_Missense_Mutation_p.E82K	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	82						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						CAGAGGTATTCCAAGGTGCTC	0.473000														50			22		0	0	0.010504	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213415276	213415276	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:213415276C>T	uc010ptr.2	+	10	2616	c.2457C>T	c.(2455-2457)ttC>ttT	p.F819F	RPS6KC1_uc001hkd.3_Silent_p.F807F|RPS6KC1_uc010pts.2_Silent_p.F607F|RPS6KC1_uc010ptt.2_Silent_p.F607F|RPS6KC1_uc010ptu.2_Silent_p.F638F|RPS6KC1_uc010ptv.2_Silent_p.F354F|RPS6KC1_uc001hke.3_Silent_p.F638F	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	819	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AAAGCTTATTCCGTATTTGTA	0.393000														51			25		0	0	0.006320	0	0
TTN	7273	broad.mit.edu	37	2	179590212	179590212	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179590212C>T	uc021vsy.1	-	67	17212	c.16987G>A	c.(16987-16989)Gaa>Aaa	p.E5663K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E2324K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6590	Ig-like 37.						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)			GCAACATTTTCCACAAATGTA	0.418000														35			9		0	0	0.006214	0	0
C12orf53	196500	broad.mit.edu	37	12	6806555	6806555	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:6806555G>A	uc021quc.1	-	2	760	c.421C>T	c.(421-423)Cca>Tca	p.P141S	C12orf53_uc001qqf.2_Missense_Mutation_p.P141S|C12orf53_uc001qqg.2_Missense_Mutation_p.P141S	NM_001244015	NP_001230944	Q8IYJ0	CL053_HUMAN	Homo sapiens chromosome 12 open reading frame 53 (C12orf53), transcript variant 3, mRNA.	141						integral to membrane				kidney(2)|large_intestine(1)|lung(3)	6						TTGGGGTGTGGGGTTGCGAGC	0.622000														40			6		0	0	0.003080	0	0
LCA5	167691	broad.mit.edu	37	6	80197078	80197078	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:80197078G>A	uc003piy.3	-	8	2349	c.1737C>T	c.(1735-1737)ttC>ttT	p.F579F	LCA5_uc003pix.3_Silent_p.F579F	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	579					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TGTTTCTTTGGAAATCCAAAA	0.353000														41			15		0	0	0.003163	0	0
ABCC11	85320	broad.mit.edu	37	16	48261857	48261857	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:48261857G>A	uc002eff.1	-	2	605	c.255C>T	c.(253-255)ccC>ccT	p.P85P	ABCC11_uc002efg.1_Silent_p.P85P|ABCC11_uc002efh.1_Silent_p.P85P|ABCC11_uc010vgl.1_Silent_p.P85P	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	85						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CATTGTCCAGGGGCTGGGGGG	0.498000														54			16		0	0	0.003163	0	0
FAM5C	339479	broad.mit.edu	37	1	190067341	190067341	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:190067341A>T	uc001gse.1	-	7	2340	c.2108T>A	c.(2107-2109)cTa>cAa	p.L703Q	FAM5C_uc010pot.1_Missense_Mutation_p.L601Q	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	703						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GATCTCTAGTAGTTGCAAAAG	0.483000														50			23		0	0	0.001882	0	0
PNLIP	5406	broad.mit.edu	37	10	118313319	118313319	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:118313319G>A	uc001lcm.3	+	5	583	c.540G>A	c.(538-540)agG>agA	p.R180R		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	180					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	AGGCTGGAAGGAGAACCAATG	0.537000														26			8		0	0	0.006214	0	0
OR6X1	390260	broad.mit.edu	37	11	123624392	123624392	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:123624392G>A	uc010rzy.2	-	0	835	c.835C>T	c.(835-837)Ctc>Ttc	p.L279F		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGGGGGGTGAGGATAGTATTT	0.448000														35			22		0	0	0.010504	0	0
RHOU	58480	broad.mit.edu	37	1	228879409	228879409	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:228879409G>A	uc001htf.3	+	2	1365	c.699G>A	c.(697-699)aaG>aaA	p.K233K	RHOU_uc021pkj.1_Non-coding_Transcript	NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN	Homo sapiens ras homolog gene family, member U (RHOU), transcript variant 1, mRNA.	233					regulation of small GTPase mediated signal transduction	Golgi membrane|cell projection|cytosol|focal adhesion|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				AACAGCCAAAGAAGTCTAAAA	0.458000														74			47		0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168108325	168108325	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:168108325G>A	uc002udx.3	+	8	10512	c.10423G>A	c.(10423-10425)Gaa>Aaa	p.E3475K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E3300K|XIRP2_uc010fpq.3_Missense_Mutation_p.E3253K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3300					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTCACCTAAAGAAGTAAGAAA	0.428000														26			9		0	0	0.004482	0	0
PDGFRB	5159	broad.mit.edu	37	5	149499604	149499604	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:149499604C>T	uc003lro.3	-	18	3138	c.2669G>A	c.(2668-2670)gGg>gAg	p.G890E	PDGFRB_uc010jhd.3_Missense_Mutation_p.G729E	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	890	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAGCAGGATCCCGAAGGACCA	0.572000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									24			5		0	0	0.000602	0	0
CSMD1	64478	broad.mit.edu	37	8	3165891	3165891	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:3165891G>A	uc022aqr.1	-	23	4156	c.3766C>T	c.(3766-3768)Ctg>Ttg	p.L1256L	CSMD1_uc011kwj.2_Silent_p.L649L|CSMD1_uc003wqe.3_Silent_p.L413L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1257	Sushi 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAACAGGTCAGGGTGTTGCTG	0.527000														15			9		0	0	0.004482	0	0
ZNF815P	401303	broad.mit.edu	37	7	5879594	5879594	+	RNA	SNP	C	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:5879594C>G	uc010ktb.1	+	3		c.527C>G			ZNF815P_uc003spc.2_Non-coding_Transcript|ZNF815P_uc003spd.2_Non-coding_Transcript					Homo sapiens zinc finger protein 815 (ZNF815), non-coding RNA.																		CACTGTCATTCGGGGACGTGG	0.567000														4			4		0	0	0.009096	0	0
COL6A5	256076	broad.mit.edu	37	3	130159251	130159251	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:130159251G>A	uc010htj.1	+	34	6563	c.6069G>A	c.(6067-6069)atG>atA	p.M2023I	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.M62I|COL6A5_uc010htk.1_Missense_Mutation_p.M62I	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2023	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GGAGAAAGATGGGTACAGTAA	0.398000														38			10		0	0	0.006214	0	0
TMC7	79905	broad.mit.edu	37	16	19032967	19032967	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:19032967G>A	uc002dfp.2	+	3	607	c.477G>A	c.(475-477)ggG>ggA	p.G159G	TMC7_uc010vao.1_Silent_p.G159G|TMC7_uc002dfq.3_Silent_p.G159G|TMC7_uc010vap.2_Silent_p.G49G	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	159						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TTGGCACTGGGATTCAGTCCT	0.418000														56			12		0	0	0.002450	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42067532	42067532	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:42067532C>T	uc001zok.4	+	1	345	c.59C>T	c.(58-60)tCc>tTc	p.S20F	MAPKBP1_uc010bci.3_Missense_Mutation_p.S20F|MAPKBP1_uc010udb.2_5'UTR|MAPKBP1_uc001zoj.4_Missense_Mutation_p.S20F|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	20										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGATCTCCATCCATCAAACTG	0.547000														36			14		0	0	0.004007	0	0
SPHKAP	80309	broad.mit.edu	37	2	228856032	228856032	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:228856032C>T	uc002vpq.2	-	9	4779	c.4732G>A	c.(4732-4734)Gaa>Aaa	p.E1578K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1549K|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1578						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCTTTTCTTCTACTAATTCA	0.393000														45			22		0	0	0.003330	0	0
MAGEB2	4113	broad.mit.edu	37	X	30236800	30236800	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:30236800G>A	uc022buf.1	+	0	103	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	MAGEB2_uc004dbz.3_Missense_Mutation_p.E35K	NM_002364	NP_002355	O15479	MAGB2_HUMAN	Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.	35							protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TGAAGCAGAGGAAGAAGAGGC	0.602000														3			7		0	0	0.001984	0	0
OR4E2	26686	broad.mit.edu	37	14	22133687	22133687	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:22133687C>T	uc010tmd.2	+	0	391	c.391C>T	c.(391-393)Cac>Tac	p.H131Y		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CACTCCACTCCACTACCCCAA	0.483000														67			50		0	0	0.003610	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325191	150325191	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:150325191C>T	uc022apv.1	-	2	1185	c.705G>A	c.(703-705)aaG>aaA	p.K235K	GIMAP6_uc003whn.3_Silent_p.K165K|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	165							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGGTCTTCCTTCCGGGTGA	0.627000														70			41		0	0	0.002522	0	0
SEMA3A	10371	broad.mit.edu	37	7	83590814	83590814	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:83590814C>T	uc003uhz.3	-	16	2504	c.2189G>A	c.(2188-2190)cGa>cAa	p.R730Q		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	730	Arg/Lys-rich (basic).				axon guidance	extracellular region|membrane	receptor activity	p.D729Y(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ACGTTGTTTTCGGTCCCTTTT	0.468000														50			19		0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179638756	179638756	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179638756G>A	uc021vsy.1	-	30	7364	c.7139C>T	c.(7138-7140)tCc>tTc	p.S2380F	TTN_uc021vsz.1_Missense_Mutation_p.S2334F|TTN_uc021vta.1_Missense_Mutation_p.S2334F|TTN_uc021vtb.1_Missense_Mutation_p.S2334F|TTN_uc002unb.2_Missense_Mutation_p.S2380F|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2380	Ig-like 13.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S2334F(2)|p.S2380F(2)		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)			ACTTTCCAAGGAGACTTTAAC	0.473000														62			45		0	0	0.002522	0	0
EPHB6	2051	broad.mit.edu	37	7	142566827	142566827	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142566827C>T	uc011kst.2	+	15	3171	c.2384C>T	c.(2383-2385)tCg>tTg	p.S795L	EPHB6_uc011ksu.2_Missense_Mutation_p.S795L|EPHB6_uc003wbs.3_Missense_Mutation_p.S503L|EPHB6_uc003wbt.3_Missense_Mutation_p.S269L|EPHB6_uc003wbu.3_Missense_Mutation_p.S503L|EPHB6_uc003wbv.3_Missense_Mutation_p.S179L	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	795	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GTCCATCGCTCGCTGTCTGCC	0.637000														38			11		0	0	0.000978	0	0
TNR	7143	broad.mit.edu	37	1	175375479	175375479	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:175375479G>A	uc001gkp.1	-	0	453	c.372C>T	c.(370-372)gcC>gcT	p.A124A	TNR_uc009wwu.1_Silent_p.A124A|TNR_uc010pmz.1_Silent_p.A124A	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	124					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACATGGACAGGCCTTTTTGG	0.587000														54			24		0	0	0.006320	0	0
INPP5A	3632	broad.mit.edu	37	10	134540383	134540383	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:134540383C>T	uc001llp.3	+	8	954	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	INPP5A_uc001llo.1_Missense_Mutation_p.R236W|INPP5A_uc001llq.3_Missense_Mutation_p.R188W	NM_005539	NP_005530	Q14642	I5P1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA.	236					cell communication	membrane	PH domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TTTCAACTTCCGGCTGGATTC	0.522000														41			14		0	0	0.004990	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155920976	155920976	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:155920976G>A	uc001fmu.2	-	23	2734	c.2479C>T	c.(2479-2481)Cgg>Tgg	p.R827W	ARHGEF2_uc001fmq.2_Missense_Mutation_p.R21W|ARHGEF2_uc001fmr.2_Missense_Mutation_p.R755W|ARHGEF2_uc001fms.2_Missense_Mutation_p.R782W|ARHGEF2_uc001fmt.2_Missense_Mutation_p.R783W	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	783					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCCCCATCCCGAGAGTTGGCT	0.657000														25			5		0	0	0.000602	0	0
LRP2	4036	broad.mit.edu	37	2	170070350	170070350	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:170070350G>A	uc002ues.3	-	35	6070	c.5857C>T	c.(5857-5859)Cga>Tga	p.R1953*		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1953					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGGATCATTCGATCTGTTCCA	0.363000														34			12		0	0	0.001368	0	0
GPR98	84059	broad.mit.edu	37	5	90136463	90136463	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:90136463G>A	uc003kju.3	+	77	16776	c.16680G>A	c.(16678-16680)gtG>gtA	p.V5560V	GPR98_uc003kjt.3_Silent_p.V3266V|GPR98_uc003kjw.3_Silent_p.V1221V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5560					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGGATTTTGTGATAACTGAAG	0.398000														79			11		0	0	0.001368	0	0
SLC6A11	6538	broad.mit.edu	37	3	10974875	10974875	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:10974875C>T	uc003bvz.3	+	10	1444	c.1410C>T	c.(1408-1410)gcC>gcT	p.A470A		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	470					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		ACTCCTATGCCGCCAGTGGGA	0.592000														182			31		0	0	0.002096	0	0
OR4F6	390648	broad.mit.edu	37	15	102346466	102346466	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:102346466C>T	uc010utr.2	+	0	544	c.544C>T	c.(544-546)Cct>Tct	p.P182S		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTGTGATCTTCCTCGATTTAT	0.373000														59			14		0	0	0.002450	0	0
REPS2	9185	broad.mit.edu	37	X	17153397	17153397	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:17153397C>T	uc004cxv.1	+	15	1847	c.1676C>T	c.(1675-1677)tCt>tTt	p.S559F	REPS2_uc004cxw.1_Missense_Mutation_p.S558F|REPS2_uc011miw.1_Missense_Mutation_p.S357F	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA.	559	Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GTACTGTATTCTCAGCCACCA	0.423000														55			28		0	0	0.008361	0	0
AOC3	8639	broad.mit.edu	37	17	41008478	41008478	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:41008478G>A	uc002ibv.3	+	3	2363	c.2203G>A	c.(2203-2205)Gag>Aag	p.E735K		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	735					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	TGGGGCCTGCGAGGTCAACCC	0.632000														10			7		0	0	0.001855	0	0
SPINLW1-WFDC6	100526773	broad.mit.edu	37	20	44174409	44174409	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:44174409C>T	uc010zxc.2	-	2	161	c.92_splice	c.e2-1	p.R31_splice	SPINLW1-WFDC6_uc002xou.3_Splice_Site_p.R31_splice|SPINLW1-WFDC6_uc002xov.2_Splice_Site_p.R31_splice	NM_001198986	NP_001185915	A6PVD6	A6PVD6_HUMAN	Homo sapiens SPINLW1-WFDC6 readthrough (SPINLW1-WFDC6), mRNA.	31						extracellular region	serine-type endopeptidase inhibitor activity										GGGACATCTCCCTAGGGAAAG	0.468000														51			19		0	0	0.010504	0	0
ZNF831	128611	broad.mit.edu	37	20	57771038	57771038	+	Nonsense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:57771038A>T	uc002yan.3	+	1	3853	c.3853A>T	c.(3853-3855)Aaa>Taa	p.K1285*		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1285						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CAAGCAGAGAAAACTGAAGAT	0.498000														60			39		0	0	0.006230	0	0
SH2D3C	10044	broad.mit.edu	37	9	130502567	130502567	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:130502567G>A	uc004bsc.3	-	9	2312	c.2170C>T	c.(2170-2172)Cct>Tct	p.P724S	SH2D3C_uc010mxo.3_Missense_Mutation_p.P564S|SH2D3C_uc004bry.3_Missense_Mutation_p.P566S|SH2D3C_uc004brz.4_Missense_Mutation_p.P370S|SH2D3C_uc011mak.2_Missense_Mutation_p.P370S|SH2D3C_uc004bsb.3_Missense_Mutation_p.P656S|SH2D3C_uc004bsa.3_Missense_Mutation_p.P567S	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	724	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTGAGAAAAGGCTTGAGCTTC	0.577000														47			7		0	0	0.003080	0	0
DHX29	54505	broad.mit.edu	37	5	54579186	54579186	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:54579186G>A	uc003jpx.3	-	10	1930	c.1810C>T	c.(1810-1812)Cag>Tag	p.Q604*	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	604	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TGTGGTACCTGAGTACTTTTA	0.418000														43			24		0	0	0.002299	0	0
OR13C8	138802	broad.mit.edu	37	9	107331602	107331603	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:107331602_107331603GA>AT	uc011lvo.2	+	0	154_155	c.154_155GA>AT	c.(154-156)gat>ATt	p.D52I		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D52G(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TATCATCTTTGATTCTCACCTG	0.441000														103			75		0	0	0.004672	0	0
TLL1	7092	broad.mit.edu	37	4	166946575	166946575	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:166946575G>A	uc003irh.2	+	8	1797	c.1150G>A	c.(1150-1152)Ggg>Agg	p.G384R	TLL1_uc021xud.1_Missense_Mutation_p.G384R|TLL1_uc011cjn.2_Missense_Mutation_p.G384R|TLL1_uc011cjo.2_Missense_Mutation_p.G208R	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	384	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGTGACCCCAGGGGAGAAGGT	0.388000														20			27		0	0	0.006320	0	0
SORCS1	114815	broad.mit.edu	37	10	108367054	108367054	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:108367054G>A	uc001kyl.3	-	23	3216	c.3034_splice	c.e23-1	p.A1012_splice	SORCS1_uc021pxw.1_Splice_Site_p.A1012_splice|SORCS1_uc009xxs.3_Splice_Site_p.A1012_splice|SORCS1_uc001kym.3_Splice_Site_p.A1012_splice|SORCS1_uc001kyn.2_Splice_Site_p.A1012_splice|SORCS1_uc001kyo.3_Splice_Site_p.A1012_splice	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	1012						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AACCCCTGTGGCCTGAGGGAC	0.572000														20			5		0	0	0.001168	0	0
GRID2	2895	broad.mit.edu	37	4	94436461	94436461	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:94436461C>T	uc011cdt.2	+	12	2350	c.2092C>T	c.(2092-2094)Cct>Tct	p.P698S	GRID2_uc011cdu.2_Missense_Mutation_p.P603S	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	698					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGGACTGAATCCTTTTGAGAG	0.478000														7			15		0	0	0.004007	0	0
NEB	4703	broad.mit.edu	37	2	152432249	152432249	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:152432249T>G	uc021vrb.1	-	77	11899	c.11870A>C	c.(11869-11871)gAa>gCa	p.E3957A	NEB_uc002txr.3_Missense_Mutation_p.E423A|NEB_uc002txu.3_Missense_Mutation_p.E5658A|NEB_uc021vrc.1_Missense_Mutation_p.E5658A|NEB_uc010fnx.3_Missense_Mutation_p.E3945A|NEB_uc021vrd.1_Missense_Mutation_p.E3957A	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3957					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)		GAGATTAATTTCTGGAGTATC	0.358000														205			72		0	0	0.003610	0	0
IL1A	3552	broad.mit.edu	37	2	113537166	113537166	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:113537166C>T	uc002tig.3	-	4	1357	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K		NM_000575	NP_000566	P01583	IL1A_HUMAN	Homo sapiens interleukin 1, alpha (IL1A), mRNA.	133					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						AGGATGAATTCGTATTTGATG	0.403000														35			12		0	0	0.001368	0	0
SRGAP3	9901	broad.mit.edu	37	3	9034636	9034637	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:9034636_9034637GG>AA	uc003brf.1	-	19	3187_3188	c.2511_2512CC>TT	c.(2509-2514)tccccc>tcTTcc	p.P838S	SRGAP3_uc003brg.1_Missense_Mutation_p.P814S	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	838					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TGCTCCGTGGGGGACTGGAGGT	0.564000			T	RAF1	pilocytic astrocytoma									42			20		0	0	0.004672	0	0
OR13C3	138803	broad.mit.edu	37	9	107298474	107298474	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:107298474G>A	uc004bcb.1	-	0	621	c.621C>T	c.(619-621)ttC>ttT	p.F207F		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TTTCACATGCGAAATGATTGA	0.428000														45			25		0	0	0.005443	0	0
WDR49	151790	broad.mit.edu	37	3	167240194	167240194	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:167240194C>T	uc003fev.1	-	11	1931	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	WDR49_uc003feu.1_Missense_Mutation_p.E368K|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	543										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AAAGAAATTTCCTTTTGAATC	0.318000														33			17		0	0	0.004990	0	0
GAPVD1	26130	broad.mit.edu	37	9	128086088	128086088	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:128086088C>T	uc004bpp.3	+	8	1904	c.1744C>T	c.(1744-1746)Cgc>Tgc	p.R582C	GAPVD1_uc011lzs.1_Missense_Mutation_p.R582C|GAPVD1_uc004bpq.3_Missense_Mutation_p.R582C|GAPVD1_uc010mwx.3_Missense_Mutation_p.R582C|GAPVD1_uc004bpr.3_Missense_Mutation_p.R561C|GAPVD1_uc004bps.3_Missense_Mutation_p.R582C|GAPVD1_uc010mwy.1_Missense_Mutation_p.R441C	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	582					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TCCTTCAAATCGCTCCAATTC	0.423000														12			7		0	0	0.006214	0	0
GRIA3	2892	broad.mit.edu	37	X	122459987	122459987	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:122459987G>A	uc004etq.4	+	3	911	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	GRIA3_uc004etr.4_Missense_Mutation_p.E207K|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.E191K	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	207					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GCGCATCATTGAAGAAATGGA	0.438000														12			35		0	0	0.003271	0	0
FBXW7	55294	broad.mit.edu	37	4	153245389	153245389	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:153245389G>A	uc003ims.3	-	10	1964	c.1802C>T	c.(1801-1803)tCt>tTt	p.S601F	FBXW7_uc011cii.2_Missense_Mutation_p.S601F|FBXW7_uc003imt.3_Missense_Mutation_p.S601F|FBXW7_uc011cih.2_Missense_Mutation_p.S425F|FBXW7_uc003imq.3_Missense_Mutation_p.S521F|FBXW7_uc003imr.3_Missense_Mutation_p.S483F	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	601					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.S601F(3)|p.D600Y(1)|p.S362F(1)|p.S521F(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTTAACTGTAGAATCTGCATT	0.383000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""									19			12		0	0	0.003163	0	0
MUC16	94025	broad.mit.edu	37	19	9048241	9048241	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9048241G>A	uc002mkp.3	-	4	33594	c.33390C>T	c.(33388-33390)gcC>gcT	p.A11130A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11132	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						CATGACTGGTGGCCATTGAAG	0.498000														50			9		0	0	0.006214	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907932	164907932	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:164907932C>T	uc003fej.4	-	1	1131	c.687G>A	c.(685-687)ctG>ctA	p.L229L	SLITRK3_uc003fek.3_Silent_p.L229L|SLITRK3_uc021xgy.1_Silent_p.L229L	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	229						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GGTTTTCTTCCAGCTGGAGCT	0.448000										HNSCC(40;0.11)				30			22		0	0	0.003954	0	0
TGM5	9333	broad.mit.edu	37	15	43552275	43552275	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:43552275G>A	uc001zrd.2	-	2	419	c.411C>T	c.(409-411)atC>atT	p.I137I	TGM5_uc001zre.2_Intron	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	137					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TGAAAAGCAGGATGAACTCCC	0.602000														46			11		0	0	0.008291	0	0
GNAI1	2770	broad.mit.edu	37	7	79818490	79818490	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:79818490T>C	uc003uhb.1	+	2	583	c.246T>C	c.(244-246)atT>atC	p.I82I	GNAI1_uc011kgt.1_Silent_p.I30I	NM_002069	NP_002060	P63096	GNAI1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 (GNAI1), transcript variant 1, mRNA.	82					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						AGTCAATTATTGCTATCATTA	0.413000														27			10		0	0	0.000978	0	0
ZNF23	7571	broad.mit.edu	37	16	71482251	71482251	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:71482251G>A	uc002faf.3	-	5	2491	c.1677C>T	c.(1675-1677)ccC>ccT	p.P559P	ZNF23_uc002fah.3_Silent_p.P559P|ZNF23_uc002fad.3_Silent_p.P501P|ZNF23_uc010vmf.2_Silent_p.P501P|ZNF23_uc002fag.3_Silent_p.P501P|ZNF23_uc002fai.3_Silent_p.P598P	NM_145911	NP_666016	P17027	ZNF23_HUMAN	Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TACACTGAAAGGGTTTCTCTC	0.428000														21			14		0	0	0.004990	0	0
DPY19L1	23333	broad.mit.edu	37	7	34982235	34982235	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:34982235G>A	uc003tem.4	-	16	1487	c.1342C>T	c.(1342-1344)Cat>Tat	p.H448Y	DPY19L1_uc003ten.1_5'Flank	NM_015283	NP_056098	Q2PZI1	D19L1_HUMAN	Homo sapiens dpy-19-like 1 (C. elegans) (DPY19L1), mRNA.	448						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						ACCTCTCCATGATCAAACTGG	0.318000														29			10		0	0	0.000978	0	0
CCDC87	55231	broad.mit.edu	37	11	66358663	66358663	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:66358663G>A	uc001oiq.4	-	0	1892	c.1824C>T	c.(1822-1824)ttC>ttT	p.F608F	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	608										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						TGACATGAAGGAAATCTGTTT	0.483000														59			26		0	0	0.003954	0	0
GRXCR2	643226	broad.mit.edu	37	5	145246183	145246183	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:145246183C>T	uc003lns.1	-	1	445	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	149										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GCCTCCTCTTCCTTCTGGAGA	0.418000														43			14		0	0	0.002450	0	0
DNAH7	56171	broad.mit.edu	37	2	196851790	196851790	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:196851790C>T	uc002utj.4	-	14	1855	c.1754_splice	c.e14+1	p.R585_splice		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	585	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACATAAATACCTTGTATTTAC	0.343000														45			24		0	0	0.006320	0	0
RAB3IP	117177	broad.mit.edu	37	12	70150412	70150412	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:70150412G>A	uc001svp.3	+	2	974	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	RAB3IP_uc021rao.1_Missense_Mutation_p.R160Q|RAB3IP_uc001svm.3_Missense_Mutation_p.R160Q|RAB3IP_uc001svn.3_Missense_Mutation_p.R160Q|RAB3IP_uc001svo.3_Non-coding_Transcript|RAB3IP_uc001svq.3_Missense_Mutation_p.R176Q|RAB3IP_uc001svs.3_Non-coding_Transcript	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	176					Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			GGCTATGAACGATTAAAAGAA	0.383000														29			39		0	0	0.002522	0	0
FAM129A	116496	broad.mit.edu	37	1	184764240	184764240	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:184764240G>A	uc001gra.3	-	13	2852	c.2658C>T	c.(2656-2658)gcC>gcT	p.A886A	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	886					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CATGAATACGGGCTACCTTGA	0.562000														75			41		0	0	0.008740	0	0
OR4K17	390436	broad.mit.edu	37	14	20586527	20586527	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20586527G>A	uc001vwo.1	+	0	962	c.962G>A	c.(961-963)aGa>aAa	p.R321K		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TATACTCTGAGAAACAAAGAA	0.363000														30			4		0	0	0.009096	0	0
KBTBD10	10324	broad.mit.edu	37	2	170367288	170367288	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:170367288C>T	uc002ueu.1	+	0	1077	c.1000C>T	c.(1000-1002)Ccc>Tcc	p.P334S	KBTBD10_uc010zdh.1_Intron	NM_006063	NP_006054	O60662	KBTBA_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.	334					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						TGAGCAGATTCCCAGAAATCA	0.423000														65			9		0	0	0.008291	0	0
TSPAN33	340348	broad.mit.edu	37	7	128807381	128807381	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:128807381C>G	uc003vop.2	+	6	839	c.730C>G	c.(730-732)Cta>Gta	p.L244V	TSPAN33_uc003voq.2_Missense_Mutation_p.L76V	NM_178562	NP_848657	Q86UF1	TSN33_HUMAN	Homo sapiens tetraspanin 33 (TSPAN33), mRNA.	244						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TGGTGTGGCTCTAGGCCTGGC	0.493000														137			4		0	0	0.009096	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175833	140175833	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140175833G>A	uc003lhd.2	+	0	1390	c.1284G>A	c.(1282-1284)cgG>cgA	p.R428R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.R428R|PCDHAC2_uc011czy.2_Silent_p.R428R	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	442	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCGCACGGGACGGGGGCT	0.632000														47			15		0	0	0.006122	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834439	101834439	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:101834439C>T	uc003knn.3	-	0	282	c.110G>A	c.(109-111)gGa>gAa	p.G37E	SLCO6A1_uc003kno.3_Missense_Mutation_p.G37E|SLCO6A1_uc003knp.3_Missense_Mutation_p.G37E|SLCO6A1_uc003knq.3_Missense_Mutation_p.G37E	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	37						integral to membrane|plasma membrane	transporter activity	p.G37R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CTTCGGGGTTCCCTTGGCCCT	0.607000														102			27		0	0	0.008361	0	0
VSTM4	196740	broad.mit.edu	37	10	50255039	50255039	+	Nonsense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:50255039T>A	uc001jhf.2	-	6	855	c.826A>T	c.(826-828)Aaa>Taa	p.K276*		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	276						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						AGCGTGACTTTTCTCTGTGGT	0.448000														141			52		0	0	0.003610	0	0
TKTL1	8277	broad.mit.edu	37	X	153556195	153556195	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:153556195C>T	uc004fkg.3	+	11	1695	c.1509C>T	c.(1507-1509)atC>atT	p.I503I	TKTL1_uc011mzl.2_Silent_p.I497I|TKTL1_uc011mzm.2_Silent_p.I299I|TKTL1_uc004fkh.3_Silent_p.I447I	NM_012253	NP_001139406	P51854	TKTL1_HUMAN	Homo sapiens transketolase-like 1 (TKTL1), transcript variant 1, mRNA.	503					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATATTTTTATCCGTGTCATCG	0.453000														40			68		0	0	0.003610	0	0
OR56B1	387748	broad.mit.edu	37	11	5758396	5758396	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5758396G>A	uc001mbt.2	+	0	719	c.650G>A	c.(649-651)gGg>gAg	p.G217E	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CTTGGAATGGGGAGTGATCTA	0.478000														29			7		0	0	0.001984	0	0
RFX2	5990	broad.mit.edu	37	19	6040144	6040144	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:6040144G>A	uc002meb.3	-	4	638	c.369C>T	c.(367-369)tcC>tcT	p.S123S	RFX2_uc002mec.3_Silent_p.S123S|RFX2_uc010xiy.1_Silent_p.S78S	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCGCTGGCGGGGACGAGGCTG	0.677000														38			23		0	0	0.002299	0	0
PTPRD	5789	broad.mit.edu	37	9	8500885	8500885	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:8500885G>A	uc003zkk.3	-	23	2740	c.1997C>T	c.(1996-1998)cCt>cTt	p.P666L	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	666	Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGTGTCCGAAGGAATTCCCAA	0.483000										TSP Lung(15;0.13)				109			23		0	0	0.003330	0	0
BLNK	29760	broad.mit.edu	37	10	97976457	97976457	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:97976457C>T	uc001kls.4	-	6	737	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	BLNK_uc001kme.4_Missense_Mutation_p.E105K|BLNK_uc001klt.4_Missense_Mutation_p.E101K|BLNK_uc009xvc.3_Non-coding_Transcript|BLNK_uc001klu.4_Missense_Mutation_p.E105K|BLNK_uc001klv.4_Intron|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Missense_Mutation_p.E187K|BLNK_uc001kly.4_Missense_Mutation_p.E187K|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Missense_Mutation_p.E187K|BLNK_uc001kmb.4_5'UTR|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_Missense_Mutation_p.E105K|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	187	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		ATATAGTTTTCATCATTATCT	0.398000														15			7		0	0	0.003080	0	0
LOC286238	286238	broad.mit.edu	37	9	91262491	91262491	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:91262491C>T	uc010mql.1	-	1	285	c.152G>A	c.(151-153)gGa>gAa	p.G51E		NM_001100111	NP_001093581			Homo sapiens uncharacterized LOC286238 (LOC286238), mRNA.																		GAACACATTTCCAGGTCTCAG	0.398000														76			7		0	0	0.008291	0	0
CACNA1G	8913	broad.mit.edu	37	17	48649321	48649321	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:48649321C>T	uc002irk.1	+	4	1041	c.669C>T	c.(667-669)ttC>ttT	p.F223F	CACNA1G_uc002iri.1_Silent_p.F223F|CACNA1G_uc002irj.1_Silent_p.F223F|CACNA1G_uc002irl.1_Silent_p.F223F|CACNA1G_uc002irm.1_Silent_p.F223F|CACNA1G_uc002irn.1_Silent_p.F223F|CACNA1G_uc002iro.1_Silent_p.F223F|CACNA1G_uc002irp.1_Silent_p.F223F|CACNA1G_uc002irq.1_Silent_p.F223F|CACNA1G_uc002irr.1_Silent_p.F223F|CACNA1G_uc002irs.1_Silent_p.F223F|CACNA1G_uc002irt.1_Silent_p.F223F|CACNA1G_uc002iru.1_Silent_p.F223F|CACNA1G_uc002irv.1_Silent_p.F223F|CACNA1G_uc002irw.1_Silent_p.F223F|CACNA1G_uc002irx.1_Silent_p.F136F|CACNA1G_uc002iry.1_Silent_p.F136F|CACNA1G_uc002isg.1_Silent_p.F136F|CACNA1G_uc002ish.1_Silent_p.F136F|CACNA1G_uc002isi.1_Silent_p.F136F|CACNA1G_uc002irz.1_Silent_p.F136F|CACNA1G_uc002isa.1_Silent_p.F136F|CACNA1G_uc002isd.1_Silent_p.F136F|CACNA1G_uc002isb.1_Silent_p.F136F|CACNA1G_uc002isc.1_Silent_p.F136F|CACNA1G_uc002ise.1_Silent_p.F136F|CACNA1G_uc002isf.1_Silent_p.F136F	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	223					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCGTCTTCTTCATCTTCGGCA	0.597000														28			38		0	0	0.009718	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786487	19786487	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:19786487G>A	uc003zoa.2	-	0	531	c.378C>T	c.(376-378)tcC>tcT	p.S126S	SLC24A2_uc003zob.2_Silent_p.S126S	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	126					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TCTCCTCAAGGGAAAAGATGT	0.438000														51			43		0	0	0.009718	0	0
PYGL	5836	broad.mit.edu	37	14	51398399	51398399	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:51398399C>T	uc001wyu.3	-	3	647	c.520G>A	c.(520-522)Gga>Aga	p.G174R	PYGL_uc010tqq.2_Missense_Mutation_p.G140R|PYGL_uc001wyw.4_Missense_Mutation_p.G174R	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	174					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	ACCTGCCATCCATCTCGGATC	0.413000														57			13		0	0	0.001855	0	0
RIMKLA	284716	broad.mit.edu	37	1	42880390	42880390	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:42880390G>A	uc001chi.2	+	4	1059	c.921G>A	c.(919-921)caG>caA	p.Q307Q		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member A (RIMKLA), mRNA.	307					protein modification process	cytoplasm	ATP binding|acid-amino acid ligase activity|metal ion binding	p.S307C(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CAAATAGGCAGACTGGAAAGA	0.517000														57			40		0	0	0.007835	0	0
RGPD3	653489	broad.mit.edu	37	2	107041049	107041049	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:107041049C>T	uc010ywi.1	-	19	3431	c.3374G>A	c.(3373-3375)gGa>gAa	p.G1125E		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1125	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCTATCTGATCCAGAGAGGGG	0.433000														202			47		0	0	0.003610	0	0
CELSR3	1951	broad.mit.edu	37	3	48677424	48677424	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:48677424C>T	uc003cuf.1	-	35	9888	c.9888G>A	c.(9886-9888)tcG>tcA	p.S3296S	CELSR3_uc010hkf.3_Silent_p.S488S|CELSR3_uc010hkg.3_Silent_p.S1181S|CELSR3_uc003cul.3_Silent_p.S3198S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	3198					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCCGAGAGTTCGAGCTCCTAG	0.662000														36			14		0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179438107	179438107	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179438107C>T	uc021vsy.1	-	274	65273	c.65048G>A	c.(65047-65049)gGa>gAa	p.G21683E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G15378E|TTN_uc021vta.1_Missense_Mutation_p.G15311E|TTN_uc021vtb.1_Missense_Mutation_p.G15186E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22610	Fibronectin type-III 57.						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)			GATTTCACTTCCACCATCAGA	0.408000														48			7		0	0	0.004482	0	0
HRNR	388697	broad.mit.edu	37	1	152187579	152187579	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152187579C>T	uc001ezt.1	-	2	6602	c.6526G>A	c.(6526-6528)Ggg>Agg	p.G2176R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2176					keratinization		calcium ion binding|protein binding	p.G2176W(2)|p.G2176G(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)			GATCCAGACCCTTGTCGGCCG	0.632000														418			18		0	0	0.008361	0	0
ADCY8	114	broad.mit.edu	37	8	131792772	131792772	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:131792772C>T	uc003ytd.4	-	17	3876	c.3620G>A	c.(3619-3621)aGg>aAg	p.R1207K	ADCY8_uc010mds.3_Missense_Mutation_p.R1076K	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	1207					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTGCTTCTGCCTTTGCCTATT	0.557000										HNSCC(32;0.087)				55			19		0	0	0.006122	0	0
OR4M1	441670	broad.mit.edu	37	14	20248579	20248579	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20248579C>T	uc010tku.2	+	0	98	c.98C>T	c.(97-99)tCc>tTc	p.S33F		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S33Y(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATATTTCTATCCTTCTATTTG	0.413000														246			22		0	0	0.001882	0	0
WBSCR17	64409	broad.mit.edu	37	7	70853359	70853359	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:70853359C>T	uc003tvy.3	+	2	561	c.561C>T	c.(559-561)atC>atT	p.I187I	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	187	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGAAGGAAATCATTCTGGTGG	0.542000														25			4		0	0	0.009096	0	0
RP1	6101	broad.mit.edu	37	8	55540720	55540720	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:55540720G>A	uc003xsd.1	+	3	4426	c.4278G>A	c.(4276-4278)agG>agA	p.R1426R	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1426					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)			GTTCACTAAGGAAGTTTCAGG	0.368000														18			9		0	0	0.008291	0	0
ORAI2	80228	broad.mit.edu	37	7	102087224	102087224	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:102087224G>A	uc010lhz.1	+	3	725	c.490G>A	c.(490-492)Gag>Aag	p.E164K	ORAI2_uc003uzj.2_Missense_Mutation_p.E164K|ORAI2_uc003uzk.2_Missense_Mutation_p.E164K|ORAI2_uc011kks.1_Missense_Mutation_p.E87K	NM_001126340	NP_116220	Q96SN7	ORAI2_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 2 (ORAI2), transcript variant 1, mRNA.	164						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						CTTCCTGGCCGAGGTGGTGCT	0.677000														106			24		0	0	0.003330	0	0
UNC5D	137970	broad.mit.edu	37	8	35453116	35453116	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:35453116C>T	uc003xjr.2	+	3	839	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S	UNC5D_uc003xjs.2_Missense_Mutation_p.P166S	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	171	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AAGGGAAGTTCCCATTGAAGG	0.493000														89			31		0	0	0.002836	0	0
NCR2	9436	broad.mit.edu	37	6	41318520	41318520	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:41318520C>T	uc003oqh.2	+	4	836	c.749C>T	c.(748-750)tCc>tTc	p.S250F	NCR2_uc003oqj.2_3'UTR|NCR2_uc003oqi.2_3'UTR	NM_004828	NP_004819	O95944	NCTR2_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 2 (NCR2), transcript variant 1, mRNA.	250					cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.V249V(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					acctcagtttcctcacctgta	0.433000														22			12		0	0	0.000978	0	0
ACSL5	51703	broad.mit.edu	37	10	114177616	114177616	+	Missense_Mutation	SNP	G	A	A	rs34585626	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:114177616G>A	uc001kzu.3	+	13	1511	c.1399G>A	c.(1399-1401)Gga>Aga	p.G467R	ACSL5_uc001kzs.3_Missense_Mutation_p.G411R|ACSL5_uc001kzt.3_Missense_Mutation_p.G411R|ACSL5_uc009xxz.3_Missense_Mutation_p.G411R|ACSL5_uc010qrj.2_Missense_Mutation_p.G193R	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	411					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.G466D(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CAGCCTGGGCGGAAGGGTTCG	0.493000														75			15		0	0	0.006122	0	0
TDRD6	221400	broad.mit.edu	37	6	46657718	46657718	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:46657718C>T	uc003oyj.3	+	0	2107	c.1853C>T	c.(1852-1854)tCc>tTc	p.S618F	TDRD6_uc010jze.3_Missense_Mutation_p.S618F	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	618					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GAGGCAGTTTCCTTTTTTAAA	0.403000														28			7		0	0	0.001984	0	0
DDX11L2	84771	broad.mit.edu	37	2	114357557	114357557	+	Nonstop_Mutation	SNP	A	G	G	rs115341812	by1000genomes	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:114357557A>G	uc010yxx.1	-	2	709	c.382T>C	c.(382-384)Tag>Cag	p.*128Q						Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA.																		GCCTACTTCTAGTGAAACTGG	0.567000														5			3		0	0	0.004672	0	0
MXRA5	25878	broad.mit.edu	37	X	3235908	3235908	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:3235908C>T	uc004crg.4	-	5	5971	c.5814G>A	c.(5812-5814)agG>agA	p.R1938R		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1938	Ig-like C2-type 3.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGACCACCATCCTGTCCAGGC	0.532000														13			38		0	0	0.009718	0	0
HRASLS2	54979	broad.mit.edu	37	11	63326003	63326003	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:63326003C>T	uc001nxg.1	-	2	307	c.248G>A	c.(247-249)aGa>aAa	p.R83K		NM_017878	NP_060348	Q9NWW9	HRSL2_HUMAN	Homo sapiens HRAS-like suppressor 2 (HRASLS2), mRNA.	83					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						TGGTGTGTATCTGTCATCGTG	0.532000														67			20		0	0	0.002299	0	0
OR5H1	26341	broad.mit.edu	37	3	97851849	97851849	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:97851849C>T	uc011bgt.2	+	0	308	c.308C>T	c.(307-309)tCg>tTg	p.S103L		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S103L(2)|p.S103S(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CAGTTTTTTTCGTTTGCAATC	0.393000														92			44		0	0	0.002852	0	0
EIF4G1	1981	broad.mit.edu	37	3	184043640	184043640	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:184043640C>T	uc003fnp.3	+	21	3393	c.3122_splice	c.e21-1	p.S1041_splice	EIF4G1_uc010hxx.3_Splice_Site_p.S1048_splice|EIF4G1_uc003fnt.3_Splice_Site_p.S752_splice|EIF4G1_uc010hxy.3_Splice_Site_p.S1048_splice|EIF4G1_uc003fnq.3_Splice_Site_p.S954_splice|EIF4G1_uc003fnr.3_Splice_Site_p.S877_splice|EIF4G1_uc003fns.3_Splice_Site_p.S1001_splice|EIF4G1_uc003fnv.4_Splice_Site_p.S1042_splice|EIF4G1_uc003fnw.3_Splice_Site_p.S1048_splice|EIF4G1_uc003fnx.3_Splice_Site_p.S846_splice	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	1041	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTGTGTCAGGCCGTGGACTTC	0.552000														137			36		0	0	0.003214	0	0
TRPV1	7442	broad.mit.edu	37	17	3494609	3494609	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:3494609T>C	uc010vro.2	-	1	356	c.323A>G	c.(322-324)aAg>aGg	p.K108R	TRPV1_uc010vrp.2_Missense_Mutation_p.K108R|TRPV1_uc010vrq.2_Missense_Mutation_p.R83G|TRPV1_uc010vrr.2_Missense_Mutation_p.K108R|TRPV1_uc010vrs.2_Missense_Mutation_p.K108R|TRPV1_uc010vrt.2_Missense_Mutation_p.K108R|TRPV1_uc010vru.2_Missense_Mutation_p.K108R	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	108					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CCTGAGGGTCTTCTCGGTGCT	0.597000														30			13		0	0	0.003163	0	0
MYH11	4629	broad.mit.edu	37	16	15835382	15835382	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:15835382C>T	uc002ddx.3	-	22	2925	c.2818G>A	c.(2818-2820)Gag>Aag	p.E940K	MYH11_uc002ddv.3_Missense_Mutation_p.E940K|MYH11_uc002ddw.3_Missense_Mutation_p.E933K|MYH11_uc002ddy.3_Missense_Mutation_p.E933K|MYH11_uc010bvg.3_Missense_Mutation_p.E765K	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	933					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTTCCTCCTCCTCCAGGCGG	0.612000			T	CBFB	AML									88			19		0	0	0.008871	0	0
FAM74A3	728495	broad.mit.edu	37	9	40716146	40716146	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:40716146C>T	uc010mmk.2	+	0		c.623C>T								Homo sapiens family with sequence similarity 74, member A3 (FAM74A3), non-coding RNA.											endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGAGGCTGTCCCGGAGAAGAC	0.512000														51			7		0	0	0.001984	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24261589	24261589	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:24261589C>T	uc003xdz.2	+	12	1614	c.1394C>T	c.(1393-1395)cCa>cTa	p.P465L	ADAMDEC1_uc010lub.2_Missense_Mutation_p.P386L|ADAMDEC1_uc011lab.1_Missense_Mutation_p.P386L	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	465	Disintegrin.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GGAGATGCTCCAAACCATACC	0.408000														33			5		0	0	0.000602	0	0
RARS	5917	broad.mit.edu	37	5	167915660	167915660	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:167915660C>T	uc003lzx.3	+	1	140	c.99C>T	c.(97-99)ggC>ggT	p.G33G	RARS_uc011deo.2_5'UTR	NM_002887	NP_002878	P54136	SYRC_HUMAN	Homo sapiens arginyl-tRNA synthetase (RARS), mRNA.	33	Could be involved in the assembly of the multisynthetase complex.				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		AAAACTGTGGCTGTTTAGGAG	0.363000														23			8		0	0	0.003080	0	0
ADAM2	2515	broad.mit.edu	37	8	39627020	39627020	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:39627020G>A	uc003xnj.3	-	11	1178	c.1103C>T	c.(1102-1104)tCc>tTc	p.S368F	ADAM2_uc003xnk.3_Missense_Mutation_p.S349F|ADAM2_uc011lck.2_Missense_Mutation_p.S368F|ADAM2_uc003xnl.3_Missense_Mutation_p.S242F	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	368	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)		AAGACACTGGGACTTCTGCTT	0.423000														23			6		0	0	0.001168	0	0
TPGS2	25941	broad.mit.edu	37	18	34376949	34376949	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:34376949G>A	uc002kzw.1	-	6	1150	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TPGS2_uc010xci.1_Missense_Mutation_p.S206F|TPGS2_uc002kzx.1_Missense_Mutation_p.S198F	NM_015476	NP_056291	Q68CL5	TPGS2_HUMAN	Homo sapiens tubulin polyglutamylase complex subunit 2 (TPGS2), mRNA.	241						cytoplasm|microtubule											ATTCACAAAGGAGTCGGTCTC	0.443000														99			23		0	0	0.002299	0	0
SPEF2	79925	broad.mit.edu	37	5	35727890	35727890	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:35727890G>A	uc003jjo.3	+	20	3139	c.3028G>A	c.(3028-3030)Gaa>Aaa	p.E1010K	SPEF2_uc003jjp.1_Missense_Mutation_p.E496K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1010					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCAGGATCAGAAGAATGGGT	0.423000														36			8		0	0	0.006214	0	0
CHI3L2	1117	broad.mit.edu	37	1	111770380	111770380	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:111770380C>T	uc001eam.3	+	0	100	c.29C>T	c.(28-30)tCt>tTt	p.S10F	CHI3L2_uc001ean.3_Missense_Mutation_p.S10F|CHI3L2_uc001eao.3_5'Flank	NM_004000	NP_001020370	Q15782	CH3L2_HUMAN	Homo sapiens chitinase 3-like 2 (CHI3L2), transcript variant 1, mRNA.	10					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		GACCAGAAGTCTCTCTGGGCA	0.483000														46			14		0	0	0.004007	0	0
CDC14B	8555	broad.mit.edu	37	9	99286000	99286000	+	Silent	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:99286000A>T	uc004awj.3	-	9	1406	c.954T>A	c.(952-954)ctT>ctA	p.L318L	CDC14B_uc004awk.3_Silent_p.L318L|CDC14B_uc004awl.3_Non-coding_Transcript|CDC14B_uc004awi.3_Silent_p.L281L	NM_033331	NP_201588	O60729	CC14B_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog B (S. cerevisiae) (CDC14B), transcript variant 2, mRNA.	318	B.				DNA repair|G2/M transition DNA damage checkpoint|activation of anaphase-promoting complex activity	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CCGTGCGACCAAGGCCAGCTA	0.493000														19			4		0	0	0.000602	0	0
CRB1	23418	broad.mit.edu	37	1	197404044	197404044	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:197404044C>T	uc001gtz.3	+	8	3260	c.3051C>T	c.(3049-3051)agC>agT	p.S1017S	CRB1_uc010poz.2_Silent_p.S993S|CRB1_uc009wza.3_Silent_p.S905S|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Silent_p.S498S|CRB1_uc001gub.1_Silent_p.S666S	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1017	Laminin G-like 3.				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						GTGGCAACAGCTTTTATATGC	0.398000														44			24		0	0	0.003330	0	0
DPP9	91039	broad.mit.edu	37	19	4684699	4684699	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:4684699G>A	uc002mba.3	-	17	2412	c.2154C>T	c.(2152-2154)ttC>ttT	p.F718F	LOC100131094_uc021ung.1_3'UTR	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	Homo sapiens dipeptidyl-peptidase 9 (DPP9), mRNA.	689					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GGGCCCCTTCGAACCGAAGCC	0.602000														8			3		0	0	0.004672	0	0
OR8K5	219453	broad.mit.edu	37	11	55927621	55927621	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55927621G>A	uc010rja.2	-	0	173	c.173C>T	c.(172-174)cCt>cTt	p.P58L		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AAAGTACATAGGTGTATGTAA	0.403000														31			21		0	0	0.002299	0	0
OR2B11	127623	broad.mit.edu	37	1	247614805	247614805	+	Silent	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:247614805G>T	uc010pyx.2	-	0	480	c.480C>A	c.(478-480)tcC>tcA	p.S160S		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCTGCACGAAGGAGTTGCCGA	0.602000														25			9		3.09899e-07	3.39969e-07	0.004482	1	0
EPHB1	2047	broad.mit.edu	37	3	134920528	134920528	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:134920528C>T	uc003eqt.3	+	11	2718	c.2343C>T	c.(2341-2343)tcC>tcT	p.S781S	EPHB1_uc003equ.3_Silent_p.S342S	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	781	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ACACCAGCTCCTTGGTGAGTC	0.537000														23			5		0	0	0.001984	0	0
TCTEX1D1	200132	broad.mit.edu	37	1	67243089	67243089	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:67243089T>C	uc001dcv.3	+	4	623	c.492T>C	c.(490-492)aaT>aaC	p.N164N	TCTEX1D1_uc009wau.3_Non-coding_Transcript|TCTEX1D1_uc009wav.3_Non-coding_Transcript	NM_152665	NP_689878	Q8N7M0	TC1D1_HUMAN	Homo sapiens Tctex1 domain containing 1 (TCTEX1D1), mRNA.	164										large_intestine(2)|lung(10)|skin(1)	13						TTTTCAGAAATTCTTCTCTCT	0.378000														76			40		0	0	0.009718	0	0
DUSP13	51207	broad.mit.edu	37	10	76867938	76867938	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:76867938C>T	uc001jws.3	-	1	234	c.179G>A	c.(178-180)tGg>tAg	p.W60*	DUSP13_uc001jwu.3_Intron|DUSP13_uc001jww.3_Intron|DUSP13_uc009xrs.3_5'UTR|DUSP13_uc001jwt.3_5'UTR|DUSP13_uc001jwv.3_Intron	NM_001007271	NP_001007272	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 1, mRNA.	60	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCCCAGCTTCCACAGCTCAAA	0.662000														38			15		0	0	0.004007	0	0
TG	7038	broad.mit.edu	37	8	133923647	133923647	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:133923647C>T	uc003ytw.3	+	18	4069	c.4028C>T	c.(4027-4029)tCc>tTc	p.S1343F	TG_uc010mdw.3_Missense_Mutation_p.S102F	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1343					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACCCTGGTTTCCATTCCTGTC	0.488000														65			45		0	0	0.003610	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65715223	65715223	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:65715223G>A	uc001ogk.1	+	3	956	c.924G>A	c.(922-924)aaG>aaA	p.K308K	TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA.	309										endometrium(2)|kidney(3)|lung(9)	14						AATGGAGGAAGACAAGGGCCA	0.617000														5			3		0	0	0.004672	0	0
ASNS	440	broad.mit.edu	37	7	97483989	97483989	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:97483989G>A	uc003uot.4	-	9	1647	c.1141C>T	c.(1141-1143)Cct>Tct	p.P381S	ASNS_uc011kin.2_Missense_Mutation_p.P298S|ASNS_uc011kio.2_Missense_Mutation_p.P360S|ASNS_uc003uou.4_Missense_Mutation_p.P381S|ASNS_uc003uov.4_Missense_Mutation_p.P381S|ASNS_uc003uox.4_Missense_Mutation_p.P298S	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	381	Asparagine synthetase.				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)	TCAGGAGAAGGAGCCTATTTC	0.448000														28			14		0	0	0.003163	0	0
PPEF2	5470	broad.mit.edu	37	4	76804350	76804350	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:76804350C>T	uc003hix.3	-	8	1109	c.752G>A	c.(751-753)gGc>gAc	p.G251D	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.G251D	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	251	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTTGGTGAAGCCATATCTAGA	0.328000														33			12		0	0	0.001368	0	0
ROBO2	6092	broad.mit.edu	37	3	77638049	77638049	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:77638049G>A	uc011bgk.2	+	17	3303	c.2660G>A	c.(2659-2661)cGa>cAa	p.R887Q	ROBO2_uc021xat.1_Missense_Mutation_p.R899Q|ROBO2_uc003dpy.4_Missense_Mutation_p.R883Q|ROBO2_uc003dpz.3_Missense_Mutation_p.R887Q|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Missense_Mutation_p.R10Q	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	883					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)		TTGTATTGGCGAAGAAAGAAG	0.418000														50			26		0	0	0.009535	0	0
ACTC1	70	broad.mit.edu	37	15	35083473	35083473	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:35083473C>T	uc001ziu.1	-	5	1075	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	278					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TAAGTTGTTTCATGGATGCCA	0.463000														76			17		0	0	0.010504	0	0
ZNF582	147948	broad.mit.edu	37	19	56895941	56895941	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:56895941G>A	uc002qmy.3	-	4	1231	c.938C>T	c.(937-939)cCc>cTc	p.P313L	ZNF582_uc002qmz.1_Missense_Mutation_p.P282L	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	Homo sapiens zinc finger protein 582 (ZNF582), mRNA.	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		ACACTGATAGGGTTTCTCGCC	0.418000														37			10		0	0	0.000978	0	0
GPX7	2882	broad.mit.edu	37	1	53072487	53072487	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:53072487C>T	uc001cue.3	+	1	309	c.270C>T	c.(268-270)ggC>ggT	p.G90G		NM_015696	NP_056511	Q96SL4	GPX7_HUMAN	Homo sapiens glutathione peroxidase 7 (GPX7), mRNA.	90					response to oxidative stress	extracellular region	glutathione peroxidase activity			breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1)	7					Glutathione(DB00143)	ACCAGTTTGGCCAACAGGAGC	0.587000														51			31		0	0	0.002445	0	0
THSD7B	80731	broad.mit.edu	37	2	137988647	137988648	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:137988647_137988648CC>AT	uc002tva.1	+	6	1664_1665	c.1664_1665CC>AT	c.(1663-1665)ccc>cAT	p.P555H	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.P445H	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)		TGCCCAGTTCCCCCTCCTCCTG	0.470000														27			8		0	0	0.004672	0	0
EDNRA	1909	broad.mit.edu	37	4	148463676	148463676	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:148463676C>T	uc003iky.3	+	7	1720	c.1190C>T	c.(1189-1191)tCg>tTg	p.S397L	EDNRA_uc011cid.2_Missense_Mutation_p.S172L|EDNRA_uc010ipg.2_Missense_Mutation_p.S288L|EDNRA_uc010ipf.1_Non-coding_Transcript	NM_001957	NP_001948	P25101	EDNRA_HUMAN	Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA.	397					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	CTGATGACCTCGGTCCCCATG	0.552000														23			18		0	0	0.008871	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799890	159799890	+	Missense_Mutation	SNP	C	T	T	rs141884763		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:159799890C>T	uc001fue.4	+	1	485	c.275C>T	c.(274-276)cCg>cTg	p.P92L		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	92						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					GAGCTCGGGCCGCTGGAGTCT	0.627000														39			26		0	0	0.003330	0	0
ABCD2	225	broad.mit.edu	37	12	39997808	39997808	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:39997808C>T	uc001rmb.2	-	5	1832	c.1406_splice	c.e5-1	p.G469_splice		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	469					fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AATAACTTTTCCTGTAATTAA	0.313000														24			33		0	0	0.009535	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735094	55735094	+	Silent	SNP	G	A	A	rs139711848		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55735094G>A	uc010rit.2	-	0	846	c.846C>T	c.(844-846)acC>acT	p.T282T		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TGTTCCTCAGGGTATATATAA	0.328000														22			20		0	0	0.008871	0	0
KRTAP9-2	83899	broad.mit.edu	37	17	39382951	39382951	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:39382951G>A	uc002hwf.3	+	0	52	c.45G>A	c.(43-45)agG>agA	p.R15R		NM_031961	NP_114167	Q9BYQ4	KRA92_HUMAN	Homo sapiens keratin associated protein 9-2 (KRTAP9-2), mRNA.	15	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament	protein binding			large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTGCTGCAGGACCACCTGCT	0.622000														73			22		0	0	0.005443	0	0
NEFM	4741	broad.mit.edu	37	8	24772225	24772225	+	Nonsense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:24772225A>T	uc003xed.4	+	0	952	c.919A>T	c.(919-921)Aag>Tag	p.K307*	NEFM_uc011lac.1_Nonsense_Mutation_p.K307*|NEFM_uc010lue.3_5'Flank|AK308605_uc010luc.2_5'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	307	Coil 2B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGAGCAGAACAAGGAGGCCAT	0.627000														12			13		0	0	0.002450	0	0
TLL2	7093	broad.mit.edu	37	10	98182396	98182396	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:98182396C>T	uc001kml.2	-	5	968	c.727G>A	c.(727-729)Gag>Aag	p.E243K	TLL2_uc009xvf.2_Missense_Mutation_p.E191K	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	243	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGGCCCAGCTCGTGAGCCACA	0.552000														28			4		0	0	0.009096	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140746332	140746332	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140746332T>A	uc011das.2	+	0	2435	c.2435T>A	c.(2434-2436)tTt>tAt	p.F812Y	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	NM_032054	NP_114443	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 2, mRNA.	0					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)			AGTTTTCTCTTTCGGTAAGGA	0.383000														68			21		0	0	0.003330	0	0
ADAM28	10863	broad.mit.edu	37	8	24181412	24181412	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:24181412G>A	uc003xdy.3	+	8	869	c.786G>A	c.(784-786)aaG>aaA	p.K262K	ADAM28_uc003xdx.3_Silent_p.K262K|ADAM28_uc011kzz.2_Silent_p.K29K|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_5'Flank	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	262	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ACAAGGATAAGATAAAGATAA	0.368000														29			12		0	0	0.001368	0	0
FAM65C	140876	broad.mit.edu	37	20	49218764	49218764	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:49218764C>T	uc010zyt.2	-	12	1755	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.E498K|FAM65C_uc002xvn.1_Missense_Mutation_p.E498K	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	498										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCCCTTCCTCGTGGCCGTTC	0.682000														19			7		0	0	0.004482	0	0
CD2	914	broad.mit.edu	37	1	117311293	117311293	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:117311293C>T	uc001egu.4	+	4	973	c.944C>T	c.(943-945)cCg>cTg	p.P315L		NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	315	Pro-rich.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CCTCCTGCTCCGTCGGGCACA	0.622000														70			25		0	0	0.002780	0	0
PTK2	5747	broad.mit.edu	37	8	141675044	141675044	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:141675044G>A	uc003yvu.3	-	30	3228	c.2918C>T	c.(2917-2919)cCc>cTc	p.P973L	PTK2_uc011ljp.2_Missense_Mutation_p.P281L|PTK2_uc003yvo.3_Missense_Mutation_p.P601L|PTK2_uc011ljq.2_Missense_Mutation_p.P671L|PTK2_uc003yvp.3_Missense_Mutation_p.P641L|PTK2_uc003yvq.3_Missense_Mutation_p.P478L|PTK2_uc003yvr.3_Missense_Mutation_p.P916L|PTK2_uc003yvs.3_Missense_Mutation_p.P927L|PTK2_uc011ljr.2_Missense_Mutation_p.P986L|PTK2_uc003yvt.3_Missense_Mutation_p.P995L|PTK2_uc003yvv.3_Missense_Mutation_p.P876L	NM_153831	NP_722560	Q05397	FAK1_HUMAN	Homo sapiens PTK2 protein tyrosine kinase 2 (PTK2), transcript variant 1, mRNA.	973	Interaction with RGNEF (By similarity).|Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|SH2 domain binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGGTAGGAGGGGAATGGTCTC	0.532000														33			6		0	0	0.004482	0	0
TES	26136	broad.mit.edu	37	7	115889084	115889084	+	Missense_Mutation	SNP	C	T	T	rs142430563		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:115889084C>T	uc003vho.3	+	2	339	c.124C>T	c.(124-126)Cgt>Tgt	p.R42C	TES_uc011kmx.2_Missense_Mutation_p.R42C|TES_uc011kmy.2_Intron|TES_uc010lka.2_Missense_Mutation_p.R33C|TES_uc003vhp.3_Missense_Mutation_p.R33C|TES_uc022aki.1_Non-coding_Transcript	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.	42	Cys-rich.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			AAAAATATGTCGTAACTGCAA	0.313000														9			5		0	0	0.001168	0	0
ENPP3	5169	broad.mit.edu	37	6	131973691	131973691	+	Nonsense_Mutation	SNP	G	A	A	rs150884645	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:131973691G>A	uc003qcu.4	+	4	634	c.287G>A	c.(286-288)tGg>tAg	p.W96*	ENPP3_uc010kfn.1_Non-coding_Transcript|ENPP3_uc011ecc.1_Nonsense_Mutation_p.W62*|ENPP3_uc010kfo.1_Non-coding_Transcript|ENPP3_uc010kfp.1_Non-coding_Transcript|ENPP3_uc003qcv.3_Nonsense_Mutation_p.W96*|ENPP3_uc010kfq.3_Non-coding_Transcript	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	96	SMB 2.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GCTCGAATATGGATGTGCAAT	0.353000														62			22		0	0	0.004656	0	0
B3GNT3	10331	broad.mit.edu	37	19	17922734	17922734	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:17922734G>A	uc002nhl.1	+	2	1069	c.922G>A	c.(922-924)Gga>Aga	p.G308R	B3GNT3_uc010ebd.1_Missense_Mutation_p.G308R|B3GNT3_uc010ebe.1_Missense_Mutation_p.G308R	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	308					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GGAGCTTGAGGGACTGAAGCC	0.627000														110			61		0	0	0.003610	0	0
SGSM1	129049	broad.mit.edu	37	22	25264765	25264765	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:25264765G>A	uc003abg.2	+	11	1391	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N	SGSM1_uc010guu.1_Missense_Mutation_p.D412N|SGSM1_uc003abh.2_Missense_Mutation_p.D412N|SGSM1_uc003abj.2_Missense_Mutation_p.D412N|SGSM1_uc003abi.1_Missense_Mutation_p.D387N	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	412						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CAAAGATGATGATGAGGCCAC	0.537000														61			36		0	0	0.004289	0	0
IGLL1	3543	broad.mit.edu	37	22	23915751	23915751	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:23915751G>A	uc002zxd.3	-	2	462	c.344C>T	c.(343-345)tCg>tTg	p.S115L	IGLL1_uc002zxe.3_Silent_p.L76L	NM_020070	NP_064455	P15814	IGLL1_HUMAN	Homo sapiens immunoglobulin lambda-like polypeptide 1 (IGLL1), transcript variant 1, mRNA.	115	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						CAGAGTGACCGAGGGGGTGGC	0.577000														34			8		0	0	0.003080	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086553	39086553	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:39086553C>T	uc011aej.1	-	2	960	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	KCNJ6_uc002ywo.2_Missense_Mutation_p.E303K	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	303					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ACCACAATTTCCAGTTCCTCT	0.478000														37			30		0	0	0.002445	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596740	24596740	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:24596740G>A	uc011djo.2	-	2	662	c.162C>T	c.(160-162)gtC>gtT	p.V54V	KIAA0319_uc011djp.2_Silent_p.V9V|KIAA0319_uc003neh.1_Silent_p.V54V|KIAA0319_uc011djq.1_Silent_p.V45V|KIAA0319_uc011djr.1_Silent_p.V54V	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	54	MANSC.				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						TGCAGTCTACGACAGGGAAGG	0.577000														33			15		0	0	0.003163	0	0
MMP3	4314	broad.mit.edu	37	11	102713310	102713310	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:102713310C>T	uc001phj.1	-	3	416	c.351_splice	c.e3-1	p.R117_splice		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	117					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AATTCACAATCCTGTAGGAGA	0.378000														48			22		0	0	0.001882	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41052574	41052574	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:41052574C>T	uc003jmj.4	-	11	1713	c.1223G>A	c.(1222-1224)aGg>aAg	p.R408K	HEATR7B2_uc003jmi.4_5'UTR	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	408							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						TACCAGATTCCTGTTCAACGT	0.388000														66			7		0	0	0.004482	0	0
PLCH1	23007	broad.mit.edu	37	3	155200306	155200306	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:155200306G>A	uc021xge.1	-	22	3810	c.3533C>T	c.(3532-3534)tCc>tTc	p.S1178F	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.S1140F	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1178					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AATAAGATGGGAAATTACACT	0.463000														31			11		0	0	0.001368	0	0
DNAH17	8632	broad.mit.edu	37	17	76482381	76482381	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:76482381G>A	uc010dhp.2	-	44	7151	c.7026C>T	c.(7024-7026)tcC>tcT	p.S2342S		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTCCCTGGGGGAGTCGGGGG	0.622000														14			28		0	0	0.007291	0	0
APOA5	116519	broad.mit.edu	37	11	116661636	116661636	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:116661636C>T	uc009yzg.3	-	1	819	c.387G>A	c.(385-387)gtG>gtA	p.V129V	ZNF259_uc001ppp.3_5'Flank|APOA5_uc001ppr.3_Silent_p.V103V|APOA5_uc009yzf.3_Silent_p.V103V			Q6Q788	APOA5_HUMAN	Homo sapiens apolipoprotein A-V (APOA5), transcript variant 2, mRNA.	103					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		GGCGAGCCTTCACCTCCTCCA	0.642000														274			25		0	0	0.003330	0	0
C7orf65	401335	broad.mit.edu	37	7	47694908	47694908	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:47694908G>A	uc010kyp.1	+	0	67	c.32G>A	c.(31-33)gGa>gAa	p.G11E		NM_001123065	NP_001116537	Q6ZTY9	CG065_HUMAN	Homo sapiens chromosome 7 open reading frame 65 (C7orf65), mRNA.	11										endometrium(1)|lung(2)	3						TCAACAGAAGGAAGACGGCTC	0.627000														25			11		0	0	0.001368	0	0
ZNF528	84436	broad.mit.edu	37	19	52919319	52919319	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:52919319G>A	uc002pzh.3	+	6	1640	c.1214G>A	c.(1213-1215)aGa>aAa	p.R405K	ZNF528_uc002pzi.3_Missense_Mutation_p.R172K	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATTCATACTAGAGAGAGACCT	0.403000														34			19		0	0	0.010504	0	0
DKKL1	27120	broad.mit.edu	37	19	49878092	49878092	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:49878092C>T	uc002pnk.3	+	4	750	c.536C>T	c.(535-537)tCc>tTc	p.S179F	DKKL1_uc021uxk.1_Missense_Mutation_p.S104F|DKKL1_uc021uxl.1_Missense_Mutation_p.S148F	NM_014419	NP_001184231	Q9UK85	DKKL1_HUMAN	Homo sapiens dickkopf-like 1 (DKKL1), transcript variant 1, mRNA.	179					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CGGCGGAGGTCCCACCAGGAT	0.652000														18			14		0	0	0.004007	0	0
HRG	3273	broad.mit.edu	37	3	186395181	186395181	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:186395181G>A	uc003fqq.3	+	6	1110	c.1087G>A	c.(1087-1089)Gga>Aga	p.G363R		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	363	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		gcatccccatggacaccatcc	0.507000														12			10		0	0	0.006214	0	0
SLC1A4	6509	broad.mit.edu	37	2	65217269	65217269	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:65217269C>T	uc010yqa.2	+	0	775	c.492C>T	c.(490-492)ccC>ccT	p.P164P	SLC1A4_uc010ypz.2_Intron	NM_003038	NP_003029	P43007	SATT_HUMAN	Homo sapiens solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 (SLC1A4), transcript variant 1, mRNA.	164					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|chloride channel activity|sodium:dicarboxylate symporter activity	p.V163I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CTCCTGTCCCCAAAGAGACGG	0.637000														13			5		0	0	0.001168	0	0
GTF2A1	2957	broad.mit.edu	37	14	81658868	81658868	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:81658868C>T	uc001xvf.1	-	6	1360	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	GTF2A1_uc010atb.1_Missense_Mutation_p.E260K|GTF2A1_uc001xvg.1_Missense_Mutation_p.E271K	NM_015859	NP_963889	P52655	TF2AA_HUMAN	Homo sapiens general transcription factor IIA, 1, 19/37kDa (GTF2A1), transcript variant 1, mRNA.	310					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|TBP-class protein binding|protein binding|protein heterodimerization activity|transcription coactivator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		CTTActtcttccacctgccca	0.343000														97			11		0	0	0.000978	0	0
MUC16	94025	broad.mit.edu	37	19	9057093	9057093	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9057093G>A	uc002mkp.3	-	2	30557	c.30353C>T	c.(30352-30354)tCc>tTc	p.S10118F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10120	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						TGAAACAGAGGAATATAGTTC	0.473000														31			17		0	0	0.004990	0	0
KRT18P55	284085	broad.mit.edu	37	17	26604151	26604151	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:26604151C>T	uc002has.3	-	2	811	c.324G>A	c.(322-324)ctG>ctA	p.L108L						Homo sapiens keratin 18 pseudogene 55 (KRT18P55), non-coding RNA.																		CCATTCCTGCCAGACCCCCGG	0.602000														28			25		0	0	0.003954	0	0
PIBF1	10464	broad.mit.edu	37	13	73401869	73401869	+	Splice_Site	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:73401869A>G	uc001vjc.3	+	8	1221	c.916_splice	c.e8-2	p.V306_splice	PIBF1_uc010aeo.1_Splice_Site|PIBF1_uc001vjb.3_Splice_Site_p.V306_splice|PIBF1_uc010aep.3_Intron	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	306						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		ACATGTATGTAGGTAGTCACC	0.363000														16			12		0	0	0.001855	0	0
FBXO7	25793	broad.mit.edu	37	22	32880020	32880020	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:32880020C>T	uc003amq.3	+	2	837	c.554C>T	c.(553-555)aCc>aTc	p.T185I	FBXO7_uc003amp.1_Missense_Mutation_p.T71I|FBXO7_uc003amt.3_Missense_Mutation_p.T106I|FBXO7_uc003amu.3_Missense_Mutation_p.T71I	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	Homo sapiens F-box protein 7 (FBXO7), transcript variant 1, mRNA.	185					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCATTAGAGACCTTGTATCAA	0.453000														54			40		0	0	0.002522	0	0
CSNK2A1	1457	broad.mit.edu	37	20	468211	468211	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:468211C>T	uc002wdw.1	-	11	1226	c.833G>A	c.(832-834)cGa>cAa	p.R278Q	CSNK2A1_uc002wdx.1_Missense_Mutation_p.R278Q|CSNK2A1_uc002wdy.1_Missense_Mutation_p.R142Q	NM_177559	NP_808228	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	278	Protein kinase.				Wnt receptor signaling pathway|axon guidance	NuRD complex|Sin3 complex|cytosol|plasma membrane	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	p.R278Q(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CCATCGCTTTCGAGAGTGTCT	0.507000														56			9		0	0	0.008291	0	0
RPTN	126638	broad.mit.edu	37	1	152128193	152128193	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152128193G>A	uc001ezs.1	-	2	1447	c.1382C>T	c.(1381-1383)tCc>tTc	p.S461F		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	461	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.S461S(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACCATAGTGGGAACTCTGGCC	0.517000														465			237		0	0	0.003610	0	0
TSEN15	116461	broad.mit.edu	37	1	184041968	184041968	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:184041968C>T	uc001gqt.4	+	4	582	c.503C>T	c.(502-504)tCt>tTt	p.S168F	TSEN15_uc001gqu.4_Missense_Mutation_p.L121F|TSEN15_uc009wyg.3_Non-coding_Transcript	NM_052965	NP_443197	Q8WW01	SEN15_HUMAN	Homo sapiens tRNA splicing endonuclease 15 homolog (S. cerevisiae) (TSEN15), transcript variant 1, mRNA.	168					mRNA processing|tRNA processing	nucleolus	protein binding	p.S168Y(2)		breast(1)|kidney(3)|large_intestine(2)|lung(2)	8						CAGAATATTTCTCTTAGAAGA	0.308000														40			9		0	0	0.001368	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963780	73963780	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:73963780G>A	uc004eby.3	-	2	1229	c.612C>T	c.(610-612)ctC>ctT	p.L204L		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	204					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGAAGCCTAGGAGCTGGTCTG	0.458000														14			24		0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179429354	179429354	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179429354C>T	uc021vsy.1	-	274	74026	c.73801G>A	c.(73801-73803)Gat>Aat	p.D24601N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D18296N|TTN_uc021vta.1_Missense_Mutation_p.D18229N|TTN_uc021vtb.1_Missense_Mutation_p.D18104N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25528	Ig-like 122.						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)			TCACATGGATCACGAGCAACA	0.443000														22			17		0	0	0.001882	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517124	140517124	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140517124C>T	uc003liq.3	+	0	2325	c.2108C>T	c.(2107-2109)tCg>tTg	p.S703L		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	703					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCTCTTTTCGGTGCTCCTG	0.701000														65			22		0	0	0.001882	0	0
OR8J1	219477	broad.mit.edu	37	11	56128269	56128269	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56128269C>T	uc010rjh.2	+	0	579	c.547C>T	c.(547-549)Cct>Tct	p.P183S		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P183L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGATAATGTTCCTCTGTTAGC	0.338000														34			11		0	0	0.008291	0	0
FILIP1	27145	broad.mit.edu	37	6	76024179	76024179	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:76024179C>T	uc010kbe.3	-	5	1908	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	FILIP1_uc003phy.1_Missense_Mutation_p.E457K|FILIP1_uc003phz.3_Missense_Mutation_p.E358K|FILIP1_uc003pia.3_Missense_Mutation_p.E457K|FILIP1_uc003pib.1_Missense_Mutation_p.E209K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	457										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTTTCTTTCTCCAGATTTAAA	0.378000														61			26		0	0	0.006320	0	0
SLC37A1	54020	broad.mit.edu	37	21	43988541	43988541	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:43988541C>T	uc002zbj.3	+	16	2398	c.1416C>T	c.(1414-1416)ggC>ggT	p.G472G	SLC37A1_uc002zbi.3_Silent_p.G472G	NM_018964	NP_061837	P57057	GLPT_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 1 (SLC37A1), mRNA.	472					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						ACGGGACGGGCTCTGTAGGTG	0.537000														6			6		0	0	0.003080	0	0
DLGAP5	9787	broad.mit.edu	37	14	55647984	55647984	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:55647984C>T	uc001xbs.3	-	4	744	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	DLGAP5_uc001xbt.3_Missense_Mutation_p.R176Q	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA.	176					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TGGACCAGGTCGGATTGCTCG	0.358000														17			11		0	0	0.001855	0	0
KCNH6	81033	broad.mit.edu	37	17	61623248	61623248	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:61623248G>A	uc002jay.3	+	13	3050	c.2970G>A	c.(2968-2970)ggG>ggA	p.G990G	KCNH6_uc010wpl.2_Silent_p.G831G|KCNH6_uc010wpm.2_Silent_p.G954G|KCNH6_uc002jaz.1_Silent_p.G901G	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	990					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GATTTGCAGGGAGTTGGGGCC	0.567000														16			30		0	0	0.002445	0	0
GRIK1	2897	broad.mit.edu	37	21	30971160	30971160	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:30971160C>T	uc002yno.1	-	7	1660	c.1196G>A	c.(1195-1197)gGa>gAa	p.G399E	GRIK1_uc002ynn.3_Missense_Mutation_p.G399E|GRIK1_uc011acs.2_Missense_Mutation_p.G399E|GRIK1_uc011act.2_Missense_Mutation_p.G343E|GRIK1_uc010glq.1_Missense_Mutation_p.G257E|GRIK1_uc002ynr.3_Missense_Mutation_p.G399E|GRIK1-AS2_uc002ynp.1_Intron	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	399					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CTTTTCAGTTCCTTCCTCTTT	0.368000														25			22		0	0	0.002780	0	0
C7	730	broad.mit.edu	37	5	40955533	40955534	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:40955533_40955534GG>AA	uc003jmh.3	+	9	1252_1253	c.1138_1139GG>AA	c.(1138-1140)gga>AAa	p.G380K	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	380	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CATCAGAGGGGGAGGTGCAGGC	0.421000														73			29		0	0	0.004672	0	0
CACNA1G	8913	broad.mit.edu	37	17	48646258	48646258	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:48646258C>T	uc002irk.1	+	1	642	c.270C>T	c.(268-270)gtC>gtT	p.V90V	CACNA1G_uc002iri.1_Silent_p.V90V|CACNA1G_uc002irj.1_Silent_p.V90V|CACNA1G_uc002irl.1_Silent_p.V90V|CACNA1G_uc002irm.1_Silent_p.V90V|CACNA1G_uc002irn.1_Silent_p.V90V|CACNA1G_uc002iro.1_Silent_p.V90V|CACNA1G_uc002irp.1_Silent_p.V90V|CACNA1G_uc002irq.1_Silent_p.V90V|CACNA1G_uc002irr.1_Silent_p.V90V|CACNA1G_uc002irs.1_Silent_p.V90V|CACNA1G_uc002irt.1_Silent_p.V90V|CACNA1G_uc002iru.1_Silent_p.V90V|CACNA1G_uc002irv.1_Silent_p.V90V|CACNA1G_uc002irw.1_Silent_p.V90V|CACNA1G_uc002irx.1_Silent_p.V3V|CACNA1G_uc002iry.1_Silent_p.V3V|CACNA1G_uc002isg.1_Silent_p.V3V|CACNA1G_uc002ish.1_Silent_p.V3V|CACNA1G_uc002isi.1_Silent_p.V3V|CACNA1G_uc002irz.1_Silent_p.V3V|CACNA1G_uc002isa.1_Silent_p.V3V|CACNA1G_uc002isd.1_Silent_p.V3V|CACNA1G_uc002isb.1_Silent_p.V3V|CACNA1G_uc002isc.1_Silent_p.V3V|CACNA1G_uc002ise.1_Silent_p.V3V|CACNA1G_uc002isf.1_Silent_p.V3V	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	90					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCATGTTGGTCATCCTTCTCA	0.622000														14			24		0	0	0.005443	0	0
OR14C36	127066	broad.mit.edu	37	1	248512081	248512081	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248512081C>T	uc010pzl.2	+	0	5	c.5C>T	c.(4-6)cCc>cTc	p.P2L		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M1I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CCACCGATGCCCAATTCAACC	0.403000														37			9		0	0	0.008291	0	0
RGS11	8786	broad.mit.edu	37	16	321019	321019	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:321019C>T	uc002cgj.1	-	12	946	c.943G>A	c.(943-945)Gcc>Acc	p.A315T	LUC7L_uc021szo.1_Intron|RGS11_uc002cgi.1_Missense_Mutation_p.A294T|RGS11_uc010bqs.1_Missense_Mutation_p.A304T|RGS11_uc002cgk.1_Missense_Mutation_p.A131T	NM_183337	NP_003825	O94810	RGS11_HUMAN	Homo sapiens regulator of G-protein signaling 11 (RGS11), transcript variant 1, mRNA.	315	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				ATGAAGTGGGCCCGCCCCACG	0.687000														26			15		0	0	0.008871	0	0
TLR4	7099	broad.mit.edu	37	9	120475867	120475867	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:120475867C>T	uc004bjz.3	+	2	1752	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	TLR4_uc004bkb.3_Silent_p.F287F|TLR4_uc004bka.3_Silent_p.F447F	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	487					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AGGAAAACTTCCTTCCAGATA	0.448000														28			19		0	0	0.006122	0	0
GEMIN5	25929	broad.mit.edu	37	5	154282694	154282694	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:154282694G>A	uc003lvx.3	-	18	2757	c.2674C>T	c.(2674-2676)Cat>Tat	p.H892Y	GEMIN5_uc011ddk.1_Missense_Mutation_p.H891Y	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	892					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGCCCCAGATGAAATCTTTCC	0.353000														42			9		0	0	0.000978	0	0
DSG4	147409	broad.mit.edu	37	18	28968350	28968350	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:28968350G>A	uc002kwr.2	+	3	372	c.237G>A	c.(235-237)tcG>tcA	p.S79S	DSG4_uc002kwq.2_Silent_p.S79S	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	79	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACTGCGAATCGAACCAGAAGA	0.413000														24			11		0	0	0.000978	0	0
B3GALT1	8708	broad.mit.edu	37	2	168725897	168725897	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:168725897C>T	uc021vsc.1	+	0	348	c.348C>T	c.(346-348)ttC>ttT	p.F116F	B3GALT1_uc002udz.1_Silent_p.F116F	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA.	116					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						CCACCCTGTTCCTCCTGGGCA	0.488000														26			15		0	0	0.002450	0	0
EPHB2	2048	broad.mit.edu	37	1	23111267	23111267	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:23111267C>T	uc009vqj.1	+	2	654	c.509C>T	c.(508-510)tCc>tTc	p.S170F	EPHB2_uc001bge.3_Missense_Mutation_p.S170F|EPHB2_uc001bgf.3_Missense_Mutation_p.S170F|EPHB2_uc010odu.2_Missense_Mutation_p.S170F	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	170					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)		GGACCTGTGTCCCGCAGCGGC	0.607000														24			8		0	0	0.003080	0	0
GHR	2690	broad.mit.edu	37	5	42718801	42718801	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:42718801G>A	uc021xxv.1	+	9	1350	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	GHR_uc003jmt.3_Missense_Mutation_p.D398N|GHR_uc003jmu.3_Missense_Mutation_p.D398N|GHR_uc003jmv.2_Missense_Mutation_p.D398N|GHR_uc021xxw.1_Missense_Mutation_p.D398N|GHR_uc021xxx.1_Missense_Mutation_p.D398N|GHR_uc021xxy.1_Missense_Mutation_p.D398N|GHR_uc021xxz.1_Missense_Mutation_p.D398N|GHR_uc021xya.1_Missense_Mutation_p.D398N|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.D211N|GHR_uc021xyd.1_Missense_Mutation_p.D376N	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	398					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCTGGAGACTGATTTCAATGC	0.468000														40			13		0	0	0.003163	0	0
RPL35	11224	broad.mit.edu	37	9	127620225	127620225	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:127620225G>A	uc004boy.1	-	3	393	c.344C>T	c.(343-345)cCg>cTg	p.P115L		NM_007209	NP_009140	P42766	RL35_HUMAN	Homo sapiens ribosomal protein L35 (RPL35), mRNA.	115					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4				GBM - Glioblastoma multiforme(294;0.182)		CTTCCGCAGCGGGTACAGCCG	0.592000														25			10		0	0	0.008291	0	0
MCF2	4168	broad.mit.edu	37	X	138729051	138729051	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:138729051T>C	uc011mwn.1	-	2	298	c.292A>G	c.(292-294)Aag>Gag	p.K98E	MCF2_uc011mwo.1_Missense_Mutation_p.K13E|MCF2_uc004faw.2_Missense_Mutation_p.K13E	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	0					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GCATTGTCCTTTCCCCGGCCA	0.333000														5			6		0	0	0.004482	0	0
GKAP1	80318	broad.mit.edu	37	9	86356932	86356932	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:86356932G>A	uc004amy.3	-	11	1484	c.988C>T	c.(988-990)Cat>Tat	p.H330Y	GKAP1_uc004amz.3_Missense_Mutation_p.H279Y	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN	Homo sapiens G kinase anchoring protein 1 (GKAP1), transcript variant 1, mRNA.	330					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						AATGCAGCATGAAGTGAAGTC	0.294000														21			6		0	0	0.003080	0	0
GFRA2	2675	broad.mit.edu	37	8	21560429	21560429	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:21560429G>A	uc003wzu.1	-	6	1781	c.1106C>T	c.(1105-1107)tCg>tTg	p.S369L	GFRA2_uc003wzv.1_Missense_Mutation_p.S264L|GFRA2_uc003wzw.1_Missense_Mutation_p.S236L	NM_001495	NP_001486	O00451	GFRA2_HUMAN	Homo sapiens GDNF family receptor alpha 2 (GFRA2), transcript variant 1, mRNA.	369						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GGCCTGGAACGAGGGGCCTTT	0.617000														10			5		0	0	0.001168	0	0
CCDC14	64770	broad.mit.edu	37	3	123633917	123633917	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:123633917G>A	uc011bjx.2	-	12	2662	c.2571C>T	c.(2569-2571)ctC>ctT	p.L857L	CCDC14_uc003egv.4_Silent_p.L498L|CCDC14_uc003egx.4_Silent_p.L657L|CCDC14_uc010hrt.3_Silent_p.L816L|CCDC14_uc003egy.4_Silent_p.L657L|CCDC14_uc003egz.2_3'UTR	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	Homo sapiens coiled-coil domain containing 14 (CCDC14), mRNA.	857						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TTATTTTCTTGAGGAGCTGTG	0.458000														30			9		0	0	0.008291	0	0
ZNF662	389114	broad.mit.edu	37	3	42949559	42949559	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:42949559G>A	uc003cmk.2	+	1	322	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	ZNF662_uc003cmi.2_5'UTR|ZNF662_uc003cmj.2_5'UTR	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CTCTGAGAACGAATGGATCGG	0.552000														40			6		0	0	0.001984	0	0
CD177	57126	broad.mit.edu	37	19	43866322	43866322	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:43866322G>A	uc002owi.3	+	9	1203	c.1161G>A	c.(1159-1161)ggG>ggA	p.G387G	CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	388					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				GACAAATCGGGATCTTCTCTG	0.592000														69			29		0	0	0.003271	0	0
FMO4	2329	broad.mit.edu	37	1	171310904	171310904	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:171310904C>T	uc001gho.3	+	9	1820	c.1603C>T	c.(1603-1605)Ctt>Ttt	p.L535F		NM_002022	NP_002013	P31512	FMO4_HUMAN	Homo sapiens flavin containing monooxygenase 4 (FMO4), mRNA.	535					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TAAATCTTCACTTTTCTTGAA	0.438000														20			12		0	0	0.001368	0	0
TTN	7273	broad.mit.edu	37	2	179456835	179456835	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179456835C>T	uc021vsy.1	-	250	52317	c.52092G>A	c.(52090-52092)aaG>aaA	p.K17364K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.K11059K|TTN_uc021vta.1_Silent_p.K10992K|TTN_uc021vtb.1_Silent_p.K10867K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18291	Fibronectin type-III 26.						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)			GACTCTTTTTCTTTGATGTAG	0.473000														24			5		0	0	0.001168	0	0
PROSC	11212	broad.mit.edu	37	8	37633525	37633525	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:37633525C>T	uc003xkh.3	+	6	764	c.687C>T	c.(685-687)ttC>ttT	p.F229F		NM_007198	NP_009129	O94903	PROSC_HUMAN	Homo sapiens proline synthetase co-transcribed homolog (bacterial) (PROSC), mRNA.	229							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	CCGCGGATTTCCAGCATGCGG	0.572000														66			27		0	0	0.003954	0	0
GPR84	53831	broad.mit.edu	37	12	54756450	54756450	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:54756450G>A	uc021qyp.1	-	0	1186	c.1186C>T	c.(1186-1188)Cat>Tat	p.H396Y	GPR84_uc001sfu.3_Missense_Mutation_p.H396Y	NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	Homo sapiens G protein-coupled receptor 84 (GPR84), mRNA.	396						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CAGTTCTAATGGAGCCTATGG	0.493000														148			71		0	0	0.003610	0	0
FAM194A	131831	broad.mit.edu	37	3	150396255	150396255	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:150396255G>A	uc003eyg.3	-	9	1255	c.1198C>T	c.(1198-1200)Caa>Taa	p.Q400*	FAM194A_uc003eyh.3_Nonsense_Mutation_p.Q254*	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	400										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTTCTTAGTTGAAAATCAAAT	0.289000														38			5		0	0	0.000602	0	0
MLKL	197259	broad.mit.edu	37	16	74709572	74709572	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:74709572G>A	uc002fdb.2	-	7	1570	c.1129C>T	c.(1129-1131)Ctc>Ttc	p.L377F	MLKL_uc002fdc.2_Intron	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	377	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TGAGGTGAGAGATATGCTGTA	0.393000														56			23		0	0	0.003954	0	0
OR1E1	8387	broad.mit.edu	37	17	3300826	3300826	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:3300826C>T	uc002fvj.1	-	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_003553	NP_003544	P30953	OR1E1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 1 (OR1E1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						TGTCTCTGTTCCTCAGGCTGT	0.438000														15			17		0	0	0.007413	0	0
KIAA1244	57221	broad.mit.edu	37	6	138657605	138657605	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:138657605C>T	uc003qhu.3	+	33	6687	c.6516C>T	c.(6514-6516)gtC>gtT	p.V2172V		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	2172					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGGGCCGTGTCTATGACATCA	0.557000														39			17		0	0	0.006122	0	0
SETD1A	9739	broad.mit.edu	37	16	30982726	30982726	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:30982726C>T	uc002ead.1	+	12	3730	c.3044C>T	c.(3043-3045)tCc>tTc	p.S1015F		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	1015	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GATTCGTCTTCCAAATGTTCT	0.567000														97			28		0	0	0.002445	0	0
OR2G6	391211	broad.mit.edu	37	1	248685266	248685266	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248685266T>C	uc001ien.1	+	0	319	c.319T>C	c.(319-321)Ttg>Ctg	p.L107L		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G106V(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCCATGGGGTTGGGCTCGTC	0.542000														83			29		0	0	0.003271	0	0
SGK2	10110	broad.mit.edu	37	20	42196633	42196633	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:42196633G>A	uc002xkv.3	+	3	621	c.402G>A	c.(400-402)aaG>aaA	p.K134K	SGK2_uc002xkr.3_Silent_p.K74K|SGK2_uc010ggm.3_Silent_p.K74K|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Silent_p.K74K|SGK2_uc002xkq.1_Silent_p.K74K	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	134	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCTTAAAGAAGAAAGAGGTAC	0.498000														29			18		0	0	0.006122	0	0
OAS3	4940	broad.mit.edu	37	12	113407527	113407527	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:113407527G>A	uc001tug.3	+	14	3306	c.3219G>A	c.(3217-3219)cgG>cgA	p.R1073R		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	1073	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	p.R1073Q(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GCATGGGACGGAATGGCATCC	0.622000														8			19		0	0	0.002299	0	0
CILP	8483	broad.mit.edu	37	15	65495794	65495794	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:65495794C>T	uc002aon.2	-	6	1115	c.934G>A	c.(934-936)Gtg>Atg	p.V312M		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	312	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GGGTTCATCACCATGTATGGA	0.502000														25			9		0	0	0.004482	0	0
HOXB13	10481	broad.mit.edu	37	17	46804307	46804308	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:46804307_46804308CC>TT	uc002ioa.3	-	1	855_856	c.699_700GG>AA	c.(697-702)cgggag>cgAAag	p.E234K	MIR3185_uc021tzl.1_5'Flank	NM_006361	NP_006352	Q92826	HXB13_HUMAN	Homo sapiens homeobox B13 (HOXB13), mRNA.	234					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						GCCGCATACTCCCGCTCCAGCT	0.614000														25			48		0	0	0.004672	0	0
LRP1B	53353	broad.mit.edu	37	2	140995765	140995765	+	Missense_Mutation	SNP	C	T	T	rs141605274		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:140995765C>T	uc002tvj.1	-	88	14488	c.13516G>A	c.(13516-13518)Gat>Aat	p.D4506N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4506					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGACCTCCATCGTTGTGATCA	0.368000										TSP Lung(27;0.18)				50			7		0	0	0.003080	0	0
C2orf16	84226	broad.mit.edu	37	2	27799442	27799442	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:27799442G>A	uc002rkz.4	+	0	54	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TAAAACCTATGGAGCTGACAC	0.428000														9			6		0	0	0.001168	0	0
TAS2R16	50833	broad.mit.edu	37	7	122634824	122634824	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:122634824C>T	uc003vkl.1	-	0	931	c.865G>A	c.(865-867)Gga>Aga	p.G289R		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	289					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TAGCACTTTCCCTTTAGAATC	0.418000														67			37		0	0	0.004289	0	0
SLIT3	6586	broad.mit.edu	37	5	168189647	168189647	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:168189647G>A	uc010jjg.3	-	14	1927	c.1507C>T	c.(1507-1509)Ctc>Ttc	p.L503F	SLIT3_uc003mab.3_Missense_Mutation_p.L503F	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	503	LRRNT 3.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding	p.D502N(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGCACACGAGGTCCATGAAG	0.617000														85			17		0	0	0.007413	0	0
B4GALT1	2683	broad.mit.edu	37	9	33120558	33120558	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:33120558A>G	uc003zsg.2	-	2	884	c.695T>C	c.(694-696)tTt>tCt	p.F232S		NM_001497	NP_001488	P15291	B4GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 (B4GALT1), mRNA.	232					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|Golgi trans cisterna|basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|integral to membrane	N-acetyllactosamine synthase activity|alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|protein binding|protein homodimerization activity			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	GGCTTCTTGAAAGCCAACATT	0.433000														26			19		0	0	0.010504	0	0
CHGB	1114	broad.mit.edu	37	20	5903950	5903950	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:5903950G>A	uc002wmg.3	+	3	1466	c.1160G>A	c.(1159-1161)aGa>aAa	p.R387K	CHGB_uc010zqz.2_Missense_Mutation_p.R70K	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	387						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGGACAAGAGAAACTACCCC	0.537000														55			21		0	0	0.002299	0	0
CHN1	1123	broad.mit.edu	37	2	175677170	175677170	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:175677170G>A	uc002uji.3	-	8	1094	c.753C>T	c.(751-753)gtC>gtT	p.V251V	CHN1_uc010zeq.2_Silent_p.V225V|CHN1_uc002ujj.3_Silent_p.V26V|CHN1_uc002ujg.3_Silent_p.V126V	NM_001822	NP_001813	P15882	CHIN_HUMAN	Homo sapiens chimerin (chimaerin) 1 (CHN1), transcript variant 1, mRNA.	251					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			AGTCATTTGGGACCATCTTGG	0.403000			T	TAF15	extraskeletal myxoid chondrosarcoma									41			13		0	0	0.002450	0	0
SPEG	10290	broad.mit.edu	37	2	220332071	220332071	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:220332071C>T	uc010fwg.3	+	9	3057	c.3057C>T	c.(3055-3057)ttC>ttT	p.F1019F		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1019	Ig-like 4.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGATGCATTTCGATGGCCGCA	0.577000														68			17		0	0	0.004007	0	0
PTN	5764	broad.mit.edu	37	7	136936040	136936040	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:136936040C>T	uc003vtq.2	-	3	751	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K		NM_002825	NP_002816	P21246	PTN_HUMAN	Homo sapiens pleiotrophin (PTN), mRNA.	130					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TTCTGGCATTCGGCATTGTGC	0.507000														134			66		0	0	0.003610	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92663747	92663747	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:92663747C>T	uc002bqx.2	+	4	1263	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	SLCO3A1_uc002bqy.2_Silent_p.I354I|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.I296I	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	354					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TCACCTGCATCATCCTGGCCG	0.567000														111			25		0	0	0.003954	0	0
CYB5R2	51700	broad.mit.edu	37	11	7686720	7686720	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:7686720G>A	uc001mfm.3	-	8	954	c.716C>T	c.(715-717)cCt>cTt	p.P239L	CYB5R2_uc001mfn.3_Non-coding_Transcript|CYB5R2_uc009yfk.3_Missense_Mutation_p.P239L	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN	Homo sapiens cytochrome b5 reductase 2 (CYB5R2), mRNA.	239					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTCGCTGGAGGAGGAAGGTG	0.572000											OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			6		0	0	0.003080	0	0
GZMA	3001	broad.mit.edu	37	5	54404140	54404140	+	Missense_Mutation	SNP	G	A	A	rs142064253		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:54404140G>A	uc003jpm.3	+	3	582	c.545G>A	c.(544-546)cGa>cAa	p.R182Q		NM_006144	NP_006135	P12544	GRAA_HUMAN	Homo sapiens granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3) (GZMA), mRNA.	182	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	p.R182*(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TGCAATGATCGAAATCACTAT	0.428000														22			5		0	0	0.000602	0	0
PCLO	27445	broad.mit.edu	37	7	82585639	82585639	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82585639C>T	uc003uhx.2	-	4	4919	c.4630G>A	c.(4630-4632)Gaa>Aaa	p.E1544K	PCLO_uc003uhv.2_Missense_Mutation_p.E1544K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1475					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						TGGCTGTCTTCCTGTTTATAC	0.408000														47			18		0	0	0.004990	0	0
CALCR	799	broad.mit.edu	37	7	93108777	93108777	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:93108777G>A	uc003umv.2	-	4	448	c.148C>T	c.(148-150)Cca>Tca	p.P50S	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.P32S|CALCR_uc003umw.2_Missense_Mutation_p.P32S	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	32					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TCTATTGTTGGATAGGTTTGA	0.413000														68			33		0	0	0.002096	0	0
NMUR2	56923	broad.mit.edu	37	5	151784563	151784563	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:151784563C>T	uc003luv.2	-	0	278	c.112G>A	c.(112-114)Gga>Aga	p.G38R		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	38					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CGCCGAGGTCCGCAGAGGAAG	0.522000														23			15		0	0	0.004007	0	0
ACADS	35	broad.mit.edu	37	12	121174915	121174915	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:121174915G>A	uc001tza.4	+	2	455	c.337G>A	c.(337-339)Gga>Aga	p.G113R	ACADS_uc010szl.1_Missense_Mutation_p.G113R	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	113						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CGCCTCCACCGGAGTCATCAT	0.677000														68			105		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179595718	179595718	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179595718C>T	uc021vsy.1	-	56	14167	c.13942G>A	c.(13942-13944)Gaa>Aaa	p.E4648K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1309K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5575	Ig-like 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E4648*(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)			AAAGTATATTCTCCACTATCT	0.393000														106			68		0	0	0.003610	0	0
IFNA14	3448	broad.mit.edu	37	9	21239574	21239574	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:21239574C>T	uc010mis.3	-	0	405	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	IFNA14_uc003zoo.1_Non-coding_Transcript	NM_002172	NP_002163	P01570	IFN14_HUMAN	Homo sapiens interferon, alpha 14 (IFNA14), mRNA.	121					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ATCACACAGGCTTCCAGGTCA	0.443000														97			68		0	0	0.003610	0	0
P4HA3	283208	broad.mit.edu	37	11	74013577	74013577	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:74013577C>T	uc010rrj.2	-	2	447	c.404G>A	c.(403-405)gGa>gAa	p.G135E	P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Missense_Mutation_p.G135E			Q7Z4N8	P4HA3_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA.	135						endoplasmic reticulum lumen	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CCTTGCTGCTCCCTCAAGGTC	0.517000														72			25		0	0	0.007291	0	0
NAALADL2	254827	broad.mit.edu	37	3	175165038	175165038	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:175165038G>A	uc003fit.3	+	5	1199	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q	NAALADL2_uc003fiu.1_Missense_Mutation_p.R364Q|NAALADL2_uc010hwy.1_Intron|NAALADL2_uc010hwz.1_5'UTR	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	371					proteolysis	integral to membrane	peptidase activity	p.R371*(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AGACAAAGCCGATCAAACCTC	0.378000														9			6		0	0	0.001168	0	0
HORMAD2	150280	broad.mit.edu	37	22	30518046	30518046	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:30518046G>A	uc003agy.3	+	9	727	c.662G>A	c.(661-663)gGa>gAa	p.G221E		NM_152510	NP_689723	Q8N7B1	HORM2_HUMAN	Homo sapiens HORMA domain containing 2 (HORMAD2), mRNA.	221	HORMA.				meiosis|mitosis	chromosome|nucleus				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			GTGCAAGTGGGATTTGTCTCC	0.443000														11			10		0	0	0.006214	0	0
USP29	57663	broad.mit.edu	37	19	57642615	57642615	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:57642615G>A	uc002qny.3	+	3	2928	c.2572G>A	c.(2572-2574)Gat>Aat	p.D858N	USP29_uc021vci.1_Missense_Mutation_p.D858N	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	858					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.N857N(1)		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)		CACATACAACGATCTATGTGT	0.453000														36			18		0	0	0.007413	0	0
THBS4	7060	broad.mit.edu	37	5	79363879	79363879	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:79363879C>T	uc021yaw.1	+	9	1469	c.1278C>T	c.(1276-1278)aaC>aaT	p.N426N	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	426	EGF-like 4.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACTGCAGAAACCCAGAGCTGA	0.483000														52			8		0	0	0.004482	0	0
FAM47C	442444	broad.mit.edu	37	X	37027273	37027273	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:37027273G>A	uc004ddl.2	+	0	842	c.790G>A	c.(790-792)Gag>Aag	p.E264K		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	264										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCGAGACTGGAGT	0.612000														9			20		0	0	0.010504	0	0
ANK1	286	broad.mit.edu	37	8	41552776	41552776	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:41552776C>T	uc003xok.3	-	26	3118	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.E328K|ANK1_uc003xoi.3_Missense_Mutation_p.E1012K|ANK1_uc003xoj.3_Missense_Mutation_p.E1012K|ANK1_uc003xol.3_Missense_Mutation_p.E1012K|ANK1_uc003xom.3_Missense_Mutation_p.E1053K	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1012	ZU5.				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)			GAGCCGTTTTCGCTCCTCAGA	0.617000														71			41		0	0	0.009718	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318599	79318599	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:79318599G>A	uc010mpk.3	-	8	8054	c.7930C>T	c.(7930-7932)Cca>Tca	p.P2644S	PRUNE2_uc004akj.4_Missense_Mutation_p.P97S|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_Missense_Mutation_p.P97S|PRUNE2_uc022bih.1_Missense_Mutation_p.P2466S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2644					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCCAGTGATGGATCACCAACC	0.527000														17			7		0	0	0.001984	0	0
GKN1	56287	broad.mit.edu	37	2	69201798	69201798	+	Missense_Mutation	SNP	C	T	T	rs141746794		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:69201798C>T	uc002sfc.3	+	0	94	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C		NM_019617	NP_062563	Q9NS71	GKN1_HUMAN	Homo sapiens gastrokine 1 (GKN1), mRNA.	11					digestion|positive regulation of cell division	extracellular region		p.R11C(2)		breast(2)|large_intestine(4)|lung(5)	11						CCACTGCTTTCGTGAAGACAA	0.413000														38			16		0	0	0.007413	0	0
SH3BGR	6450	broad.mit.edu	37	21	40847111	40847111	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:40847111C>T	uc002yya.3	+	2	525	c.471C>T	c.(469-471)ttC>ttT	p.F157F	SH3BGR_uc002yxz.3_Silent_p.F46F	NM_007341	NP_001001713	P55822	SH3BG_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA.	157					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		TTTATTCCTTCCTTGGTTTGG	0.378000														17			9		0	0	0.008291	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7518541	7518541	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:7518541C>T	uc002mgi.3	+	6	1733	c.1480C>T	c.(1480-1482)Cag>Tag	p.Q494*	ARHGEF18_uc010xjm.1_Nonsense_Mutation_p.Q336*|ARHGEF18_uc002mgh.3_Nonsense_Mutation_p.Q336*|ARHGEF18_uc002mgj.1_Nonsense_Mutation_p.Q137*	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	494					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AGACATGCTTCAGCGGCAGCT	0.587000														49			19		0	0	0.007413	0	0
UNC13C	440279	broad.mit.edu	37	15	54586115	54586115	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:54586115C>T	uc021smr.1	+	8	3835	c.3835C>T	c.(3835-3837)Cga>Tga	p.R1279*	UNC13C_uc021sms.1_Nonsense_Mutation_p.R1281*|UNC13C_uc002acl.3_Nonsense_Mutation_p.R111*	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1281	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.S1278S(2)		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)		CTCCACAGATCGAATCAAAGT	0.323000														41			4		0	0	0.009096	0	0
BTNL8	79908	broad.mit.edu	37	5	180338436	180338436	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:180338436G>A	uc003mmp.3	+	2	729	c.495G>A	c.(493-495)gcG>gcA	p.A165A	BTNL8_uc003mmq.3_Silent_p.A165A|BTNL8_uc010jll.3_Silent_p.A165A|BTNL8_uc011dhg.2_Silent_p.A40A|BTNL8_uc010jlm.3_Silent_p.A49A|BTNL8_uc011dhh.2_5'UTR	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	165	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCCACAGCGAAGTGGAAAG	0.537000														121			35		0	0	0.003755	0	0
TRPV6	55503	broad.mit.edu	37	7	142572682	142572682	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:142572682G>A	uc003wbx.2	-	9	1490	c.1261C>T	c.(1261-1263)Ctt>Ttt	p.L421F	TRPV6_uc003wbw.1_Missense_Mutation_p.L207F|TRPV6_uc010lou.1_Missense_Mutation_p.L292F	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	421					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGGCCCCCAAGGATGGTCTGT	0.542000														63			22		0	0	0.003330	0	0
MTMR8	55613	broad.mit.edu	37	X	63555965	63555965	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:63555965G>A	uc004dvs.3	-	9	1235	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F	MTMR8_uc011mou.2_Intron	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	382	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TTACCTTTGGGAAAACTTGTG	0.343000														18			32		0	0	0.004289	0	0
OR4B1	119765	broad.mit.edu	37	11	48239224	48239224	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:48239224G>A	uc010rhs.2	+	0	863	c.863G>A	c.(862-864)aGg>aAg	p.R288K		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TACACACTCAGGAATGCAGAG	0.438000														33			14		0	0	0.002450	0	0
SCN3A	6328	broad.mit.edu	37	2	165984493	165984493	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:165984493C>T	uc002ucx.3	-	17	3533	c.3041G>A	c.(3040-3042)gGa>gAa	p.G1014E	SCN3A_uc002ucy.3_Missense_Mutation_p.G965E|SCN3A_uc002ucz.3_Missense_Mutation_p.G965E|SCN3A_uc002uda.1_Missense_Mutation_p.G834E|SCN3A_uc002udb.1_Missense_Mutation_p.G834E	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1014						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATAATCAATTCCCTTTTGCAT	0.363000														26			20		0	0	0.008871	0	0
CTSA	5476	broad.mit.edu	37	20	44523714	44523714	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:44523714C>T	uc002xqh.3	+	10	1458	c.1084C>T	c.(1084-1086)Ccg>Tcg	p.P362S	CTSA_uc002xqj.4_Missense_Mutation_p.P344S|CTSA_uc010zxi.2_Missense_Mutation_p.P345S|CTSA_uc002xqi.3_Non-coding_Transcript	NM_000308	NP_001121167	P10619	PPGB_HUMAN	Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA.	344					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CCTCAACAACCCGTACGTGCG	0.607000														16			9		0	0	0.006214	0	0
LOC283547	283547	broad.mit.edu	37	14	39304946	39304946	+	RNA	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:39304946G>A	uc010amw.2	-	0		c.3463C>T			LOC283547_uc021rsj.1_Non-coding_Transcript|LOC283547_uc001wun.3_Non-coding_Transcript|LOC283547_uc001wuo.3_Non-coding_Transcript					Homo sapiens uncharacterized LOC283547 (LOC283547), non-coding RNA.																		AGTGTTAGCAGTGAGGGAAGG	0.527000														5			5		0	0	0.001168	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	161961	161961	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:161961C>T	uc003jak.2	+	9	1533	c.1483C>T	c.(1483-1485)Cag>Tag	p.Q495*		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	495					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGAAATGGTCCAGGATTTCAG	0.597000														28			7		0	0	0.003080	0	0
OR4N2	390429	broad.mit.edu	37	14	20296445	20296445	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20296445C>T	uc010tkv.2	+	0	838	c.838C>T	c.(838-840)Cct>Tct	p.P280S		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTGATTTTTCCTTTGTTGAA	0.438000														100			10		0	0	0.006214	0	0
PDGFRA	5156	broad.mit.edu	37	4	55156585	55156585	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:55156585G>A	uc003han.4	+	21	3317	c.2986G>A	c.(2986-2988)Gag>Aag	p.E996K	PDGFRA_uc003haa.3_Missense_Mutation_p.E756K	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	996			E -> K (in a metastatic melanoma sample; somatic mutation).		cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.E996K(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTACAAAAACGAGGAAGACAA	0.517000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				26			32		0	0	0.004289	0	0
SERPINB9	5272	broad.mit.edu	37	6	2890586	2890586	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:2890586G>A	uc003mug.3	-	6	1063	c.942C>T	c.(940-942)ttC>ttT	p.F314F	AY927512_uc003mue.3_Intron|SERPINB9_uc003muf.3_Silent_p.F117F	NM_004155	NP_004146	P50453	SPB9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 9 (SERPINB9), mRNA.	314					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TCTTGTGCACGAACTTGGACA	0.537000														73			10		0	0	0.008291	0	0
AMPD1	270	broad.mit.edu	37	1	115221145	115221145	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:115221145C>T	uc001efe.2	-	7	1048	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N	AMPD1_uc001eff.2_Missense_Mutation_p.D330N	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	301					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	ATATGGGTGTCCACCTGTATG	0.413000														19			12		0	0	0.000978	0	0
THADA	63892	broad.mit.edu	37	2	43625251	43625251	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:43625251G>A	uc002rsw.4	-	28	4438	c.4086C>T	c.(4084-4086)tcC>tcT	p.S1362S	THADA_uc010far.3_Silent_p.S557S|THADA_uc002rsx.4_Silent_p.S1362S|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Silent_p.S1071S|THADA_uc010fat.1_Silent_p.S509S	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1362							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CCATTTCACGGGAGTGGTAGA	0.453000														238			64		0	0	0.003610	0	0
RORB	6096	broad.mit.edu	37	9	77257730	77257730	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:77257730C>T	uc004aji.3	+	4	719	c.670_splice	c.e4+1	p.D224_splice	RORB_uc004ajh.3_Splice_Site_p.D213_splice	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	224	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TGACTGAAATCGGTAAGTGGA	0.388000														29			19		0	0	0.010504	0	0
FAM135B	51059	broad.mit.edu	37	8	139151271	139151271	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:139151271C>T	uc003yuy.3	-	17	4030	c.3859G>A	c.(3859-3861)Gat>Aat	p.D1287N	FAM135B_uc003yux.3_Missense_Mutation_p.D1188N|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1287										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)			TTGCGCAAATCAGCATTATCC	0.428000										HNSCC(54;0.14)				51			23		0	0	0.002780	0	0
NAV3	89795	broad.mit.edu	37	12	78594372	78594372	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:78594372G>A	uc001syp.3	+	38	7007	c.6834_splice	c.e38+1	p.Q2278_splice	NAV3_uc001syo.3_Splice_Site_p.Q2256_splice|NAV3_uc010sub.2_Splice_Site_p.Q1735_splice|NAV3_uc009zsf.3_Splice_Site_p.Q1087_splice	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	2278						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGGTCTTCAGGTATAGTACTC	0.318000										HNSCC(70;0.22)				11			23		0	0	0.002299	0	0
LRP8	7804	broad.mit.edu	37	1	53722919	53722919	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:53722919G>A	uc001cvi.2	-	14	2664	c.2427C>T	c.(2425-2427)tcC>tcT	p.S809S	LRP8_uc001cvh.2_Silent_p.S362S|LRP8_uc001cvj.2_Silent_p.S809S|LRP8_uc001cvk.2_Silent_p.S639S|LRP8_uc001cvl.2_Intron|LRP8_uc001cvm.1_Silent_p.S394S	NM_004631	NP_004622	Q14114	LRP8_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA.	809					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TACAGTGCTGGGAGTGGTTGC	0.552000														28			10		0	0	0.006214	0	0
DENND4A	10260	broad.mit.edu	37	15	65964189	65964189	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:65964189C>T	uc002api.3	-	24	4787	c.4402G>A	c.(4402-4404)Gaa>Aaa	p.E1468K	DENND4A_uc002aph.3_Missense_Mutation_p.E1425K	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	1425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GATGTCACTTCTGATTTCCCA	0.348000														70			17		0	0	0.008871	0	0
DNAH10	196385	broad.mit.edu	37	12	124387620	124387620	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:124387620G>A	uc001uft.4	+	55	9446	c.9421G>A	c.(9421-9423)Gaa>Aaa	p.E3141K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3141	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CGCCAAGCTGGAACTGCAGAA	0.567000														6			10		0	0	0.000978	0	0
IRF5	3663	broad.mit.edu	37	7	128588051	128588051	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:128588051C>T	uc003voh.3	+	6	1129	c.1008C>T	c.(1006-1008)gcC>gcT	p.A336A	IRF5_uc003vog.3_Silent_p.A352A|IRF5_uc010llt.3_Silent_p.A250A|IRF5_uc003voi.3_Silent_p.A336A|IRF5_uc003voj.4_Silent_p.A336A|IRF5_uc010llw.1_3'UTR	NM_001098630	NP_116032	Q13568	IRF5_HUMAN	Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 6, mRNA.	336					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						ACCTTTATGCCATCCGCCTGT	0.602000														71			6		0	0	0.001984	0	0
POM121L12	285877	broad.mit.edu	37	7	53103609	53103609	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:53103609C>T	uc003tpz.3	+	0	261	c.245C>T	c.(244-246)cCc>cTc	p.P82L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	82										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GAGGTGCGGCCCACCCAGGAC	0.711000														27			14		0	0	0.004007	0	0
EHMT1	79813	broad.mit.edu	37	9	140708909	140708909	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:140708909C>T	uc011mfc.2	+	21	3244	c.3207C>T	c.(3205-3207)tcC>tcT	p.S1069S	EHMT1_uc004coe.3_5'Flank	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	1069	Pre-SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACGACTGCTCCTCCAGCAACT	0.632000														80			29		0	0	0.003755	0	0
PTPRD	5789	broad.mit.edu	37	9	8341167	8341167	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:8341167G>A	uc003zkk.3	-	40	5792	c.5049C>T	c.(5047-5049)tcC>tcT	p.S1683S	PTPRD_uc003zkp.3_Silent_p.S1277S|PTPRD_uc003zkq.3_Silent_p.S1276S|PTPRD_uc003zkr.3_Silent_p.S1267S|PTPRD_uc003zks.3_Silent_p.S1276S|PTPRD_uc022bdj.1_Silent_p.S1273S	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1683	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATACCCTTGTGGATTCATATG	0.413000										TSP Lung(15;0.13)				120			31		0	0	0.002836	0	0
SLC26A9	115019	broad.mit.edu	37	1	205902072	205902073	+	Splice_Site	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:205902072_205902073CC>TT	uc001hdp.3	-	3	379	c.265_splice	c.e3+1	p.G89_splice	SLC26A9_uc001hdq.3_Splice_Site_p.G89_splice	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	89						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGCCCCTTCACCTTGTGGGACC	0.574000														19			11		0	0	0.004672	0	0
OR7G1	125962	broad.mit.edu	37	19	9226280	9226280	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9226280G>A	uc021uoi.1	-	0	160	c.160C>T	c.(160-162)Cac>Tac	p.H54Y	OR7G1_uc002mks.1_Missense_Mutation_p.H54Y	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GTGTGGAGGTGGGAGTCAGAG	0.493000														82			46		0	0	0.003610	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033103	82033103	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:82033103G>A	uc002fgu.3	-	2	923	c.795C>T	c.(793-795)ttC>ttT	p.F265F		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	265					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GAGGCCGGAAGAACTCAAAGT	0.537000														50			22		0	0	0.001882	0	0
DPP3	10072	broad.mit.edu	37	11	66254077	66254077	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:66254077C>T	uc001oig.1	+	3	489	c.427C>T	c.(427-429)Ctc>Ttc	p.L143F	DPP3_uc001oif.1_Missense_Mutation_p.L143F|DPP3_uc010rpe.1_Missense_Mutation_p.L132F	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	143					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						AGTCAGGGGCCTCTGGCAGAC	0.617000														57			28		0	0	0.005443	0	0
TPP1	1200	broad.mit.edu	37	11	6636428	6636428	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:6636428G>A	uc001mel.1	-	10	1460	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	TAF10_uc001mej.2_5'Flank|TPP1_uc001mek.1_Missense_Mutation_p.P224S	NM_000391	NP_000382	O14773	TPP1_HUMAN	Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.	467					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		CATGGAATGGGCACTCTGTTG	0.562000														80			26		0	0	0.003954	0	0
KRT4	3851	broad.mit.edu	37	12	53200947	53200947	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:53200947G>A	uc001saz.3	-	8	1691	c.1691C>T	c.(1690-1692)tCc>tTc	p.S564F		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	490						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TCCAGAGCCGGAGCCAAAGCC	0.562000														20			27		0	0	0.009535	0	0
ZNF235	9310	broad.mit.edu	37	19	44792651	44792651	+	Missense_Mutation	SNP	G	A	A	rs144837895	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:44792651G>A	uc002oza.4	-	4	1040	c.937C>T	c.(937-939)Cgt>Tgt	p.R313C	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Missense_Mutation_p.R309C	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TTCCCAGTACGAACACTTTGT	0.438000														47			28		0	0	0.007291	0	0
OR10X1	128367	broad.mit.edu	37	1	158549442	158549442	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158549442G>A	uc010pin.2	-	0	248	c.248C>T	c.(247-249)tCc>tTc	p.S83F		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CTCAGAGAAGGAGAGTGCACT	0.502000														53			20		0	0	0.003954	0	0
OTOL1	131149	broad.mit.edu	37	3	161221691	161221691	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:161221691C>T	uc011bpb.2	+	3	1395	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	465	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TTACTGGGTTCCTTTTGTACC	0.408000														23			9		0	0	0.008291	0	0
TSIX	9383	broad.mit.edu	37	X	73045926	73045926	+	RNA	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:73045926C>T	uc004ebn.2	+	0		c.33887C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		CACTAGAAATCCCAAACCCCA	0.488000														17			38		0	0	0.004289	0	0
HS6ST2	90161	broad.mit.edu	37	X	131762506	131762506	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:131762506C>T	uc011mvd.1	-	5	2099	c.1683G>A	c.(1681-1683)ctG>ctA	p.L561L	HS6ST2_uc011mvb.1_Silent_p.L415L|HS6ST2_uc011mvc.1_Silent_p.L375L|HS6ST2_uc011mve.1_Silent_p.L521L|HS6ST2_uc011mva.1_Silent_p.L247L	NM_001077188	NP_001070656	Q96MM7	H6ST2_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 2 (HS6ST2), transcript variant L, mRNA.	521						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GCCTTCCCTTCAGAAATTTGC	0.498000														17			35		0	0	0.002836	0	0
SLC26A5	375611	broad.mit.edu	37	7	103061245	103061245	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:103061245C>T	uc003vbz.3	-	3	494	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	SLC26A5_uc003vbt.2_Missense_Mutation_p.E78K|SLC26A5_uc003vbu.2_Missense_Mutation_p.E78K|SLC26A5_uc003vbv.2_Missense_Mutation_p.E78K|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.E78K	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	78					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AACACATATTCCTTGAATTTG	0.413000														61			22		0	0	0.003954	0	0
FRMPD4	9758	broad.mit.edu	37	X	12632949	12632949	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:12632949A>T	uc004cuz.2	+	3	877	c.371A>T	c.(370-372)aAt>aTt	p.N124I	FRMPD4_uc011mij.2_Missense_Mutation_p.N116I|Mir_548_uc022bta.1_5'Flank	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	124	PDZ.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GTAATGATTAATGATGAACCG	0.512000														10			27		0	0	0.008361	0	0
PPFIA4	8497	broad.mit.edu	37	1	203017806	203017806	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:203017806C>T	uc009xaj.3	+	14	1773	c.1773C>T	c.(1771-1773)ctC>ctT	p.L591L	PPFIA4_uc010pqf.2_Silent_p.L147L|PPFIA4_uc001gyz.3_5'Flank|PPFIA4_uc001gza.3_5'Flank			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	134	SAM 3.				cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GTCTGCAGCTCCACCTGAAGG	0.657000														13			7		0	0	0.006214	0	0
SLC6A13	6540	broad.mit.edu	37	12	352957	352957	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:352957G>A	uc001qic.2	-	2	315	c.225C>T	c.(223-225)ctC>ctT	p.L75L	SLC6A13_uc009zdj.2_Silent_p.L75L|SLC6A13_uc010sdl.2_Intron|SLC6A13_uc010sdm.1_5'Flank	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	75					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AGAGGAAGACGAGGTAGGGGA	0.527000														16			16		0	0	0.004990	0	0
DOPEY1	23033	broad.mit.edu	37	6	83828678	83828678	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:83828678G>A	uc011dyy.2	+	7	1112	c.852G>A	c.(850-852)ctG>ctA	p.L284L	DOPEY1_uc003pjs.1_Silent_p.L284L|DOPEY1_uc010kbl.1_Silent_p.L284L	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	284					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ATATGTCTCTGAATCGAAGAC	0.423000														59			40		0	0	0.002522	0	0
TMX1	81542	broad.mit.edu	37	14	51716210	51716210	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:51716210G>A	uc001wza.4	+	5	639	c.514G>A	c.(514-516)Gac>Aac	p.D172N	TMX1_uc010aoa.3_Missense_Mutation_p.D88N	NM_030755	NP_110382	Q9H3N1	TMX1_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 1 (TMX1), mRNA.	172					DNA replication|ER to Golgi vesicle-mediated transport|anti-apoptosis|cell proliferation|cell redox homeostasis|electron transport chain|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						CTTTATTGAAGACCTTGGATT	0.313000														162			30		0	0	0.003271	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997202	82997202	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82997202C>T	uc003uhy.2	-	16	2649	c.2028G>A	c.(2026-2028)gaG>gaA	p.E676E	SEMA3E_uc022agy.1_Silent_p.E616E	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	676					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CCTCGACTTTCTCCTCTTCCA	0.483000														38			12		0	0	0.001855	0	0
MYH11	4629	broad.mit.edu	37	16	15835512	15835512	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:15835512C>T	uc002ddx.3	-	22	2795	c.2688G>A	c.(2686-2688)aaG>aaA	p.K896K	MYH11_uc002ddv.3_Silent_p.K896K|MYH11_uc002ddw.3_Silent_p.K889K|MYH11_uc002ddy.3_Silent_p.K889K|MYH11_uc010bvg.3_Silent_p.K721K	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	889					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GTAGCAGGTTCTTCTCCTCGG	0.637000			T	CBFB	AML									73			17		0	0	0.004007	0	0
GRIK3	2899	broad.mit.edu	37	1	37337848	37337848	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:37337848G>A	uc001caz.2	-	3	808	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	GRIK3_uc001cba.1_Missense_Mutation_p.R225W	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	225					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CGGAATTCCCGGCCTCGCTTC	0.592000														31			16		0	0	0.004990	0	0
FUT8	2530	broad.mit.edu	37	14	66208857	66208857	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:66208857C>T	uc001xin.3	+	10	3184	c.1457C>T	c.(1456-1458)gCc>gTc	p.A486V	FUT8_uc001xio.3_Missense_Mutation_p.A486V|FUT8_uc010tsp.2_Missense_Mutation_p.A323V|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Missense_Mutation_p.A486V|FUT8_uc001xiq.3_Missense_Mutation_p.A357V|FUT8_uc021ruy.1_Missense_Mutation_p.A357V	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN	Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.	486					L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi	Golgi cisterna membrane|integral to membrane	SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CATCCTGATGCCTCTGCAAAC	0.398000														78			9		0	0	0.006214	0	0
SLC17A3	10786	broad.mit.edu	37	6	25851002	25851002	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:25851002G>A	uc003nfk.4	-	6	926	c.816C>T	c.(814-816)tcC>tcT	p.S272S	SLC17A3_uc003nfi.4_Silent_p.S194S|SLC17A3_uc011djz.1_Silent_p.S272S|SLC17A3_uc011dka.1_Silent_p.S194S	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	194					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GTTTCAAGGAGGATATGATGT	0.403000														33			13		0	0	0.002450	0	0
ODZ1	10178	broad.mit.edu	37	X	123654524	123654524	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:123654524C>T	uc010nqy.3	-	17	3208	c.3144G>A	c.(3142-3144)acG>acA	p.T1048T	ODZ1_uc011muj.2_Silent_p.T1047T|ODZ1_uc004euj.3_Silent_p.T1048T	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1048					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CTACAGGAATCGTTGAATGTG	0.493000														16			45		0	0	0.003610	0	0
MIA3	375056	broad.mit.edu	37	1	222801984	222801984	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:222801984C>T	uc001hnl.3	+	3	1431	c.1422C>T	c.(1420-1422)tcC>tcT	p.S474S	MIA3_uc009xea.1_Silent_p.S310S	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	474					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TTCAGGAATCCAAGAGGGGCC	0.393000														181			83		0	0	0.003610	0	0
SLC25A34	284723	broad.mit.edu	37	1	16063167	16063167	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:16063167G>A	uc001axb.1	+	0	359	c.187G>A	c.(187-189)Gca>Aca	p.A63T		NM_207348	NP_997231	Q6PIV7	S2534_HUMAN	Homo sapiens solute carrier family 25, member 34 (SLC25A34), mRNA.	63					transport	integral to membrane|mitochondrial inner membrane				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGGCCCGAGCAGACGGGCT	0.662000														26			7		0	0	0.003080	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558318	106558318	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:106558318G>A	uc009yxn.1	-	8	2639	c.2249C>T	c.(2248-2250)tCc>tTc	p.S750F	GUCY1A2_uc001pjg.1_Missense_Mutation_p.S719F|GUCY1A2_uc010rvo.1_Missense_Mutation_p.S740F	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	719					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GATGTTGTAGGAAACCTTTTT	0.483000														64			45		0	0	0.003610	0	0
TULP2	7288	broad.mit.edu	37	19	49398325	49398326	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:49398325_49398326GG>AA	uc002pkz.2	-	5	594_595	c.443_444CC>TT	c.(442-444)tcc>tTT	p.S148F		NM_003323	NP_003314	O00295	TULP2_HUMAN	Homo sapiens tubby like protein 2 (TULP2), mRNA.	148					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GGGGAGAGACGGAACCATTCTC	0.530000														32			20		0	0	0.004672	0	0
IL1RAP	3556	broad.mit.edu	37	3	190366453	190366453	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:190366453G>A	uc010hzg.2	+	12	2093	c.1672G>A	c.(1672-1674)Gat>Aat	p.D558N	IL1RAP_uc003fsm.2_Missense_Mutation_p.D558N|IL1RAP_uc003fso.2_Missense_Mutation_p.D558N|IL1RAP_uc003fsn.2_Non-coding_Transcript|IL1RAP_uc003fsp.2_Non-coding_Transcript|IL1RAP_uc003fsq.3_Intron	NM_001167928	NP_002173	Q9NPH3	IL1AP_HUMAN	Homo sapiens interleukin 1 receptor accessory protein (IL1RAP), transcript variant 3, mRNA.	558					inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GTCTAGCAGTGATGAGCAGGG	0.478000														32			4		0	0	0.009096	0	0
DDO	8528	broad.mit.edu	37	6	110736674	110736674	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:110736674C>T	uc003puc.3	-	0	80	c.76G>A	c.(76-78)Gac>Aac	p.D26N	DDO_uc003pud.3_Missense_Mutation_p.D26N	NM_003649	NP_003640	Q99489	OXDD_HUMAN	Homo sapiens D-aspartate oxidase (DDO), transcript variant 1, mRNA.	0					aspartate catabolic process	peroxisome	D-amino-acid oxidase activity|D-aspartate oxidase activity|binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		AAGTACCTGTCTCTGAAAAAG	0.517000														43			4		0	0	0.009096	0	0
COL4A6	1288	broad.mit.edu	37	X	107438355	107438355	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:107438355C>T	uc004enw.4	-	15	1010	c.907_splice	c.e15-1	p.G303_splice	COL4A6_uc004env.4_Splice_Site_p.G302_splice|COL4A6_uc011msn.2_Splice_Site_p.G302_splice|COL4A6_uc010npk.3_Splice_Site_p.G302_splice	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	303	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ACCCATGGGACCCTGTAAAGA	0.403000									Alport syndrome with Diffuse Leiomyomatosis					18			38		0	0	0.009718	0	0
TBPL2	387332	broad.mit.edu	37	14	55907199	55907200	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:55907199_55907200GG>AT	uc001xby.3	-	0	64_65	c.64_65CC>AT	c.(64-66)ccg>ATg	p.P22M		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA.	22	Poly-Pro.				multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						GGGTGGGGGCGGGTAAGAGGGT	0.693000														40			20		0	0	0.004672	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497566	1497566	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:1497566A>G	uc003wpl.3	+	1	804	c.707A>G	c.(706-708)aAc>aGc	p.N236S	DLGAP2_uc003wpm.3_Missense_Mutation_p.N236S	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	315					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.H235Q(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGCGTGCTCAACCGGCACCAC	0.687000														65			32		0	0	0.004289	0	0
ATP2A2	488	broad.mit.edu	37	12	110782763	110782764	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:110782763_110782764CC>TT	uc001tqk.4	+	16	3157_3158	c.2594_2595CC>TT	c.(2593-2595)tcc>tTT	p.S865F	ATP2A2_uc001tql.4_Missense_Mutation_p.S865F|ATP2A2_uc021rdt.1_Missense_Mutation_p.S713F|ATP2A2_uc001tqn.4_5'Flank|ATP2A2_uc009zvn.3_5'Flank	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	865					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CCAAGAGTGTCCTTCTACCAGC	0.505000														22			46		0	0	0.004672	0	0
FAM171B	165215	broad.mit.edu	37	2	187626444	187626444	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:187626444G>A	uc002ups.3	+	7	1487	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N	FAM171B_uc002upr.1_Missense_Mutation_p.D426N|FAM171B_uc002upt.3_5'Flank	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	459						integral to membrane	DNA binding	p.D459N(6)|p.D459H(2)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AACTCGGGACGATTTTAAAAT	0.368000														29			17		0	0	0.006122	0	0
SGSM1	129049	broad.mit.edu	37	22	25270515	25270516	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:25270515_25270516CC>TT	uc003abg.2	+	12	1582_1583	c.1425_1426CC>TT	c.(1423-1428)ctcccc>ctTTcc	p.P476S	SGSM1_uc010guu.1_Intron|SGSM1_uc003abh.2_Missense_Mutation_p.P476S|SGSM1_uc003abj.2_Intron|SGSM1_uc003abi.1_Intron	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	476						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ACACTACTCTCCCCACGCCAAG	0.634000														10			6		0	0	0.004672	0	0
PRMT3	10196	broad.mit.edu	37	11	20486061	20486061	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:20486061C>T	uc001mqb.3	+	12	1533	c.1316C>T	c.(1315-1317)aCc>aTc	p.T439I	PRMT3_uc001mqc.3_Missense_Mutation_p.T362I|PRMT3_uc010rdn.2_Missense_Mutation_p.T377I	NM_005788	NP_005779	O60678	ANM3_HUMAN	Homo sapiens protein arginine methyltransferase 3 (PRMT3), transcript variant 1, mRNA.	439							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						TCAGATTTTACCCTGAAAATC	0.363000														67			27		0	0	0.002096	0	0
MUC16	94025	broad.mit.edu	37	19	9070394	9070394	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9070394C>T	uc002mkp.3	-	2	17256	c.17052G>A	c.(17050-17052)acG>acA	p.T5684T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5686	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V5683I(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGGTGAACTCGTTACGGGCT	0.502000														13			9		0	0	0.008291	0	0
PRSS45	377047	broad.mit.edu	37	3	46785598	46785598	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:46785598G>A	uc010hjl.3	-	1	181	c.146C>T	c.(145-147)tCc>tTc	p.S49F	PRSS50_uc021wxe.1_Intron|PRSS50_uc011bam.2_Non-coding_Transcript	NM_199183	NP_954652	Q7RTY3	PRS45_HUMAN	Homo sapiens protease, serine, 45 (PRSS45), mRNA.	49	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CTGCAGCTTGGAGGTGCCAAG	0.582000														4			5		0	0	0.001168	0	0
OR8U8	504189	broad.mit.edu	37	11	56143728	56143728	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:56143728C>T	uc001nit.2	+	0	629	c.629C>T	c.(628-630)tCc>tTc	p.S210F		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										TTCATTTCCTCCCTTCTGATT	0.473000														69			7		0	0	0.001984	0	0
NVL	4931	broad.mit.edu	37	1	224482072	224482072	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:224482072C>T	uc001hok.3	-	11	1284	c.1222G>A	c.(1222-1224)Gga>Aga	p.G408R	NVL_uc001hol.3_Missense_Mutation_p.G302R|NVL_uc010pvd.2_Missense_Mutation_p.G317R|NVL_uc010pve.2_Missense_Mutation_p.G219R|NVL_uc010pvf.2_Non-coding_Transcript	NM_002533	NP_002524	O15381	NVL_HUMAN	Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA.	408						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		TTAGTAGCTCCAATAACTAGG	0.483000														47			7		0	0	0.001984	0	0
LEPREL1	55214	broad.mit.edu	37	3	189711983	189711983	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:189711983G>A	uc011bsk.2	-	2	1111	c.723C>T	c.(721-723)ttC>ttT	p.F241F	LEPREL1_uc003fsg.3_Silent_p.F60F	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	241					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TATCTTCAACGAAATATTCTC	0.413000														32			6		0	0	0.001984	0	0
TMEM163	81615	broad.mit.edu	37	2	135260567	135260567	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:135260567C>T	uc002ttx.3	-	5	525	c.459_splice	c.e5-1	p.I153_splice	TMEM163_uc002tty.3_Intron	NM_030923	NP_112185	Q8TC26	TM163_HUMAN	Homo sapiens transmembrane protein 163 (TMEM163), mRNA.	153						integral to membrane				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		ATGACACAGGCTCTGCAAAAA	0.443000														8			7		0	0	0.001984	0	0
EPB41L1	2036	broad.mit.edu	37	20	34810307	34810307	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:34810307G>A	uc010gfq.3	+	10	3285	c.2922G>A	c.(2920-2922)aaG>aaA	p.K974K	EPB41L1_uc002xeu.3_Silent_p.K774K|EPB41L1_uc002xev.3_Silent_p.K875K|EPB41L1_uc002xew.3_Silent_p.K767K|EPB41L1_uc002xex.3_Silent_p.K696K|EPB41L1_uc002xey.3_Silent_p.K626K|EPB41L1_uc002xez.3_Silent_p.K774K|EPB41L1_uc002xfb.3_Silent_p.K876K	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	876					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGAGGGACAAGAAGCCACAGG	0.542000														26			18		0	0	0.006122	0	0
SDPR	8436	broad.mit.edu	37	2	192701319	192701319	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:192701319G>A	uc002utb.3	-	1	963	c.608C>T	c.(607-609)tCc>tTc	p.S203F		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	203						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	ATCATCTGAGGAGAGGTCCAC	0.532000														46			15		0	0	0.003163	0	0
SLC22A14	9389	broad.mit.edu	37	3	38355398	38355398	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38355398C>T	uc003cib.2	+	6	1417	c.1344C>T	c.(1342-1344)atC>atT	p.I448I	SLC22A14_uc010hhc.1_Silent_p.I448I|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	448						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		TCCAAGCCATCATCTGGTGCT	0.592000														66			24		0	0	0.004656	0	0
LRRC10	376132	broad.mit.edu	37	12	70004117	70004117	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:70004117C>T	uc001svc.3	-	0	826	c.502G>A	c.(502-504)Gag>Aag	p.E168K		NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	Homo sapiens leucine rich repeat containing 10 (LRRC10), mRNA.	168						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GTCCTCAGCTCCTGGAGGCGC	0.607000														47			9		0	0	0.004482	0	0
PXDNL	137902	broad.mit.edu	37	8	52321692	52321692	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:52321692G>A	uc003xqu.4	-	16	2593	c.2492C>T	c.(2491-2493)cCg>cTg	p.P831L	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	831					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGAGCTGCACGGCCGCCCATC	0.667000														17			3		0	0	0.004672	0	0
DDC	1644	broad.mit.edu	37	7	50605602	50605603	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:50605602_50605603CC>TT	uc003tpg.4	-	3	591_592	c.390_391GG>AA	c.(388-393)aaggca>aaAAca	p.A131T	DDC_uc022ade.1_Intron|DDC_uc003tpf.4_Missense_Mutation_p.A131T|DDC_uc022adb.1_Missense_Mutation_p.A93T|DDC_uc022adc.1_Missense_Mutation_p.A131T|DDC_uc022add.1_Missense_Mutation_p.A131T|DDC_uc022adf.1_Missense_Mutation_p.A131T|LOC100129427_uc022adg.1_Intron	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	131	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TTCAAAAATGCCTTTGGTAGTT	0.559000														61			14		0	0	0.004672	0	0
KIAA1614	57710	broad.mit.edu	37	1	180905581	180905581	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:180905581C>T	uc001gok.2	+	4	2603	c.2536C>T	c.(2536-2538)Cct>Tct	p.P846S	KIAA1614_uc001gol.1_Missense_Mutation_p.P467S|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	846										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CCCTCGGCCTCCTTCAAGAAG	0.637000														40			16		0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179477637	179477637	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179477637C>T	uc021vsy.1	-	213	42332	c.42107G>A	c.(42106-42108)gGg>gAg	p.G14036E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G7731E|TTN_uc021vta.1_Missense_Mutation_p.G7664E|TTN_uc021vtb.1_Missense_Mutation_p.G7539E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14963	Fibronectin type-III 1.						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)			GGTGGGAACCCCTTCCGCCAC	0.488000														25			15		0	0	0.002450	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21752418	21752418	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:21752418G>A	uc002kve.3	-	21	2340	c.2123C>T	c.(2122-2124)cCc>cTc	p.P708L	OSBPL1A_uc002kvd.3_Missense_Mutation_p.P195L|OSBPL1A_uc010xbc.2_Missense_Mutation_p.P326L	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant 2, mRNA.	708					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					ACAGCAGGTGGGATTTGTCCA	0.393000														35			18		0	0	0.007413	0	0
PTPRK	5796	broad.mit.edu	37	6	128312003	128312003	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:128312003C>T	uc003qbk.3	-	20	3371	c.3004G>A	c.(3004-3006)Gat>Aat	p.D1002N	PTPRK_uc010kfc.3_Missense_Mutation_p.D1009N|PTPRK_uc003qbj.3_Missense_Mutation_p.D1003N|PTPRK_uc011ebu.2_Missense_Mutation_p.D1025N	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1002	Tyrosine-protein phosphatase 1.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ACTTCAGTATCATCAGGCCAA	0.348000														80			6		0	0	0.003080	0	0
MYBPC2	4606	broad.mit.edu	37	19	50954567	50954567	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:50954567G>A	uc002psf.2	+	15	1660	c.1609_splice	c.e15+1	p.E537_splice		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	537	Ig-like C2-type 4.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCCAAGCAAGGTGAGCACCAC	0.612000														38			20		0	0	0.002780	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809748	18809748	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:18809748G>A	uc001bax.3	+	0	2325	c.2273G>A	c.(2272-2274)gGc>gAc	p.G758D	KLHDC7A_uc009vpg.3_Intron	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	758						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCGCAGGGCACCCTCCTG	0.642000														61			25		0	0	0.005443	0	0
BC039356	0	broad.mit.edu	37	1	227618340	227618340	+	RNA	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:227618340G>A	uc001hqv.3	+	3		c.1575G>A								Homo sapiens cDNA clone IMAGE:5270051.																		GCTGTGGGTCGAAGATATGCT	0.502000														23			4		0	0	0.000602	0	0
DMWD	1762	broad.mit.edu	37	19	46288921	46288921	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:46288921G>A	uc002pdj.1	-	2	1879	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F	DMWD_uc021uwc.1_Missense_Mutation_p.S265F|DMWD_uc010eko.1_Silent_p.F296F	NM_004943	NP_004934	Q09019	DMWD_HUMAN	Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA.	611					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		AGTCCTCCAGGAACAGGAGGA	0.687000														14			11		0	0	0.001855	0	0
MYO7B	4648	broad.mit.edu	37	2	128363455	128363455	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:128363455C>T	uc002top.3	+	19	2429	c.2376C>T	c.(2374-2376)acC>acT	p.T792T		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	792	IQ 2.|IQ 3.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAGCTGTGACCCTGCAGGCCT	0.587000														30			9		0	0	0.002450	0	0
MYLK3	91807	broad.mit.edu	37	16	46781992	46781992	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:46781992C>T	uc002eei.4	-	0	230	c.114G>A	c.(112-114)caG>caA	p.Q38Q	MYLK3_uc010vge.2_Intron	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	38					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGTGCAGGAGCTGGTCCACCT	0.602000														44			31		0	0	0.002836	0	0
NFIL3	4783	broad.mit.edu	37	9	94172655	94172655	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:94172655G>A	uc022bjt.1	-	0	362	c.362C>T	c.(361-363)tCa>tTa	p.S121L	NFIL3_uc004arh.3_Missense_Mutation_p.S121L	NM_005384	NP_005375	Q16649	NFIL3_HUMAN	Homo sapiens nuclear factor, interleukin 3 regulated (NFIL3), mRNA.	121	Leucine-zipper.				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TAATTTTAGTGAAAGCAGCTC	0.383000														54			20		0	0	0.007413	0	0
MRPL1	65008	broad.mit.edu	37	4	78873665	78873665	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:78873665C>T	uc003hku.2	+	8	1080	c.882C>T	c.(880-882)ttC>ttT	p.F294F		NM_020236	NP_064621	Q9BYD6	RM01_HUMAN	Homo sapiens mitochondrial ribosomal protein L1 (MRPL1), nuclear gene encoding mitochondrial protein, mRNA.	294							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						TACGTGCTTTCCTTCGTAGTT	0.358000														23			5		0	0	0.001984	0	0
ZNF8	7554	broad.mit.edu	37	19	58797124	58797124	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:58797124G>A	uc002qry.1	+	1	238	c.108G>A	c.(106-108)caG>caA	p.Q36Q	ZNF8_uc002qrz.3_Non-coding_Transcript	NM_021089	NP_066575	P17098	ZNF8_HUMAN	Homo sapiens zinc finger protein 8 (ZNF8), mRNA.	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		ACTTTACCCAGGAGGAATGGG	0.547000														68			44		0	0	0.003214	0	0
CIC	23152	broad.mit.edu	37	19	42798205	42798205	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:42798205C>T	uc002otf.1	+	16	4199	c.4159C>T	c.(4159-4161)Ctg>Ttg	p.L1387L		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGGGCCATCCTGGGCTCTTA	0.637000			"""Mis, F, S"""		oligodendroglioma									60			34		0	0	0.002445	0	0
MS4A10	341116	broad.mit.edu	37	11	60559775	60559775	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:60559775C>T	uc001npz.1	+	3	437	c.341C>T	c.(340-342)aCc>aTc	p.T114I		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 10 (MS4A10), mRNA.	114						integral to membrane	receptor activity	p.K113R(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						ACAATGAAGACCTTTTCTAAA	0.443000														97			36		0	0	0.009718	0	0
FAM5B	57795	broad.mit.edu	37	1	177250287	177250287	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:177250287G>A	uc001glf.3	+	7	2287	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K	FAM5B_uc001glg.3_Missense_Mutation_p.E554K	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	659						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CAGCTCCAATGAGACAATCTA	0.458000														52			19		0	0	0.002299	0	0
POM121L12	285877	broad.mit.edu	37	7	53103787	53103787	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:53103787C>T	uc003tpz.3	+	0	439	c.423C>T	c.(421-423)atC>atT	p.I141I		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	141										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCATCGGGATCGCGCCCCCTG	0.716000														30			10		0	0	0.008291	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011151	105011151	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:105011151G>A	uc004elz.1	+	10	2314	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	520	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAATTGCCAGGAAGTGGAATC	0.388000														16			44		0	0	0.003610	0	0
SDR42E1	93517	broad.mit.edu	37	16	82032727	82032727	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:82032727G>A	uc002fgu.3	-	2	1299	c.1171C>T	c.(1171-1173)Ctg>Ttg	p.L391L		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	391					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CACAGTGACAGAATCACAGAA	0.453000														25			8		0	0	0.008291	0	0
GOLGA1	2800	broad.mit.edu	37	9	127651553	127651553	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:127651553G>A	uc004bpc.3	-	17	1972	c.1630C>T	c.(1630-1632)Cag>Tag	p.Q544*	GOLGA1_uc010mws.3_Non-coding_Transcript	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	Homo sapiens golgin A1 (GOLGA1), mRNA.	544	Gln-rich.					Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GCCTGCAGCTGGTGTATCTGC	0.667000														24			8		0	0	0.006214	0	0
CD163L1	283316	broad.mit.edu	37	12	7559320	7559320	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:7559320C>T	uc010sge.2	-	4	951	c.925G>A	c.(925-927)Gta>Ata	p.V309I	CD163L1_uc001qsy.3_Missense_Mutation_p.V299I	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	299	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGCTTGCATACGACATCAGCT	0.522000														21			45		0	0	0.008740	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94897975	94897975	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:94897975G>A	uc003unp.3	+	11	2995	c.2713G>A	c.(2713-2715)Gat>Aat	p.D905N	PPP1R9A_uc010lfj.3_Missense_Mutation_p.D927N|PPP1R9A_uc011kif.2_Missense_Mutation_p.D905N|PPP1R9A_uc003unq.3_Missense_Mutation_p.D905N|PPP1R9A_uc011kig.2_Missense_Mutation_p.D905N|PPP1R9A_uc003unr.3_5'UTR	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	905	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAGACTGTATGATAGTGTTAG	0.483000										HNSCC(28;0.073)				33			11		0	0	0.001368	0	0
NLRP4	147945	broad.mit.edu	37	19	56372834	56372834	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:56372834G>A	uc002qmd.4	+	3	2361	c.1939G>A	c.(1939-1941)Gac>Aac	p.D647N	NLRP4_uc002qmf.3_Missense_Mutation_p.D572N|NLRP4_uc010etf.3_Missense_Mutation_p.D478N	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	647							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCAGGTGCAGGACAGCACCCT	0.567000														40			19		0	0	0.008871	0	0
ZEB1	6935	broad.mit.edu	37	10	31810601	31810601	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:31810601G>C	uc001ivs.4	+	6	2401	c.2338G>C	c.(2338-2340)Gac>Cac	p.D780H	ZEB1_uc001ivr.4_Missense_Mutation_p.D562H|ZEB1_uc010qef.2_Missense_Mutation_p.D562H|ZEB1_uc009xlj.1_Missense_Mutation_p.D706H|ZEB1_uc010qeg.1_Missense_Mutation_p.D639H|ZEB1_uc009xlk.1_Missense_Mutation_p.D562H|ZEB1_uc001ivu.4_Missense_Mutation_p.D781H|ZEB1_uc010qeh.2_Missense_Mutation_p.D713H|ZEB1_uc001ivv.4_Missense_Mutation_p.D760H|ZEB1_uc001ivt.4_Missense_Mutation_p.D562H|ZEB1_uc009xlo.2_Missense_Mutation_p.D763H|ZEB1_uc009xlp.3_Missense_Mutation_p.D764H	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	780					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GCCACAAAAGGACAGTTGTGT	0.428000														21			9		0	0	0.008291	0	0
MED12L	116931	broad.mit.edu	37	3	150876535	150876535	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:150876535C>T	uc003eyp.3	+	5	915	c.786C>T	c.(784-786)atC>atT	p.I262I	MED12L_uc011bnz.2_Silent_p.I262I|MED12L_uc003eym.1_Silent_p.I262I|MED12L_uc003eyn.3_Silent_p.I262I|MED12L_uc003eyo.3_Silent_p.I262I	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	262					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)			TAGAAAAGATCAGACCAATGG	0.343000														22			6		0	0	0.004482	0	0
SPAM1	6677	broad.mit.edu	37	7	123594008	123594008	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:123594008G>A	uc003vle.3	+	2	823	c.384G>A	c.(382-384)aaG>aaA	p.K128K	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Silent_p.K128K|SPAM1_uc022aks.1_Silent_p.K128K|SPAM1_uc003vlf.4_Silent_p.K128K|SPAM1_uc010lku.3_Silent_p.K128K	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	128					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	ACAAAGCTAAGAAAGACATTA	0.413000														47			6		0	0	0.001168	0	0
LCN9	392399	broad.mit.edu	37	9	138555245	138555245	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:138555245G>A	uc004cgk.1	+	0	78	c.78G>A	c.(76-78)agG>agA	p.R26R		NM_001001676	NP_001001676	Q8WX39	LCN9_HUMAN	Homo sapiens lipocalin 9 (LCN9), mRNA.	26						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		TTATGCAGAGGAACTACAACG	0.632000														23			14		0	0	0.004990	0	0
TGM7	116179	broad.mit.edu	37	15	43574084	43574084	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:43574084C>T	uc001zrf.1	-	8	1314	c.1309G>A	c.(1309-1311)Gac>Aac	p.D437N		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	437					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.D437D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TGGCGCTGGTCTGACCCCACC	0.552000														13			10		0	0	0.006214	0	0
ADCK1	57143	broad.mit.edu	37	14	78365596	78365596	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:78365596T>C	uc001xui.3	+	5	835	c.736T>C	c.(736-738)Ttg>Ctg	p.L246L	ADCK1_uc010tvo.1_Non-coding_Transcript|ADCK1_uc001xuj.3_Silent_p.L178L|ADCK1_uc001xuk.1_Silent_p.L120L	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	253	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TTTTGACTTCTTGAAGGTAGG	0.507000														72			18		0	0	0.002299	0	0
LRRC73	221424	broad.mit.edu	37	6	43475013	43475013	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:43475013C>T	uc003ovk.1	-	5	1815	c.914G>A	c.(913-915)gGa>gAa	p.G305E	LRRC73_uc003ovj.1_Missense_Mutation_p.G114E	NM_001012974	NP_001012992	Q5JTD7	CF154_HUMAN	Homo sapiens leucine rich repeat containing 73 (LRRC73), mRNA.	305																	GTCCCCTAGTCCTGACGTCAT	0.537000											OREG0017453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			8		0	0	0.004482	0	0
C15orf2	23742	broad.mit.edu	37	15	24922969	24922969	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:24922969C>T	uc001ywo.3	+	0	2429	c.1955C>T	c.(1954-1956)cCt>cTt	p.P652L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	652					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TTTGAGGCTCCTGATGGGCAG	0.502000														42			14		0	0	0.001855	0	0
TRIM21	6737	broad.mit.edu	37	11	4410968	4410968	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:4410968C>T	uc001lyy.1	-	2	533	c.420G>A	c.(418-420)caG>caA	p.Q140Q		NM_003141	NP_003132	P19474	RO52_HUMAN	Homo sapiens tripartite motif containing 21 (TRIM21), mRNA.	140					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|RNA binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CTAATGCCACCTGGAGCTTCT	0.463000														90			20		0	0	0.002780	0	0
GRID1	2894	broad.mit.edu	37	10	87484213	87484213	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:87484213C>T	uc001kdl.1	-	10	1855	c.1754G>A	c.(1753-1755)aGg>aAg	p.R585K	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.R156K	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	585						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGCCTGTATCCTGTTCAACAC	0.547000										Multiple Myeloma(13;0.14)				13			14		0	0	0.002450	0	0
PHKB	5257	broad.mit.edu	37	16	47644793	47644793	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:47644793A>G	uc002eev.4	+	13	1472	c.1420A>G	c.(1420-1422)Aag>Gag	p.K474E	PHKB_uc002eeu.4_Missense_Mutation_p.K467E	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	474					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TGTCCCACTAAAGGATCAACG	0.368000														27			10		0	0	0.001368	0	0
COL4A4	1286	broad.mit.edu	37	2	227954672	227954672	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:227954672C>T	uc021vxr.1	-	20	1471	c.1370_splice	c.e20-1	p.V457_splice	COL4A4_uc021vxs.1_Splice_Site_p.V457_splice	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	457	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)		TACAGTATATCACTGTCAAGG	0.478000														20			15		0	0	0.004007	0	0
BCO2	83875	broad.mit.edu	37	11	112085548	112085548	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:112085548C>T	uc001pnf.3	+	9	1513	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S	BCO2_uc001pne.1_Missense_Mutation_p.P293S|BCO2_uc001png.3_Missense_Mutation_p.P393S|BCO2_uc001pnh.3_Missense_Mutation_p.P432S|BCO2_uc010rwt.2_Missense_Mutation_p.P361S|BCO2_uc009yyn.3_Missense_Mutation_p.P432S|BCO2_uc001pni.3_Missense_Mutation_p.P432S	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA.	466					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						CATTGAATTTCCTCAGATCTA	0.398000														40			16		0	0	0.006122	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512467	68512467	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:68512467C>T	uc021ooq.1	-	0	514	c.514G>A	c.(514-516)Gag>Aag	p.E172K	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|DIRAS3_uc001ded.3_Missense_Mutation_p.E172K	NM_004675	NP_004666	O95661	DIRA3_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 3 (DIRAS3), mRNA.	172					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAATTCCACTCCATCGCACAG	0.527000														67			36		0	0	0.004289	0	0
UGT1A1	54658	broad.mit.edu	37	2	234546024	234546024	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:234546024G>A	uc002vur.3	+	1	901	c.855_splice	c.e1+1	p.M285_splice	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Splice_Site_p.M285_splice	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	288					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)	ATTGCCTATGGTAAGTCACCT	0.403000														60			37		0	0	0.006999	0	0
PROSER1	80209	broad.mit.edu	37	13	39587218	39587218	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:39587218G>A	uc001uwy.3	-	10	3044	c.2171C>T	c.(2170-2172)tCa>tTa	p.S724L	PROSER1_uc001uwz.3_Missense_Mutation_p.S702L	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	724	Ser-rich.																GGCTATTAATGACCCTGGGAG	0.488000														73			7		0	0	0.001984	0	0
NUP210	23225	broad.mit.edu	37	3	13417834	13417834	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:13417834C>T	uc003bxv.1	-	9	1333	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E	NUP210_uc003bxx.3_Missense_Mutation_p.G89E	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	417					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGCCGTCTGTCCCCTCTTTAG	0.572000														44			23		0	0	0.001882	0	0
LOC649330	649330	broad.mit.edu	37	1	12907336	12907336	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:12907336C>T	uc010obf.2	-	1	1033	c.807G>A	c.(805-807)ttG>ttA	p.L269L	LOC649330_uc009vno.2_Silent_p.L269L	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	269							nucleic acid binding|nucleotide binding										CATCCTTGATCAACTCCAGCT	0.502000														229			15		0	0	0.004007	0	0
PTGER2	5732	broad.mit.edu	37	14	52781482	52781482	+	Silent	SNP	C	T	T	rs143268571		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:52781482C>T	uc001wzr.3	+	0	467	c.216C>T	c.(214-216)acC>acT	p.T72T		NM_000956	NP_000947	P43116	PE2R2_HUMAN	Homo sapiens prostaglandin E receptor 2 (subtype EP2), 53kDa (PTGER2), mRNA.	72						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	TGCTGGTGACCGAGCTGGTGT	0.692000														31			21		0	0	0.002299	0	0
CNNM2	54805	broad.mit.edu	37	10	104679674	104679674	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:104679674C>T	uc001kwm.3	+	0	1600	c.1437C>T	c.(1435-1437)acC>acT	p.T479T	CNNM2_uc001kwn.3_Silent_p.T479T|CNNM2_uc001kwl.3_Silent_p.T479T	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	479	CBS 1.				ion transport	integral to membrane		p.Y478*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCGGCTACACCCGCATTCCAG	0.552000														27			10		0	0	0.008291	0	0
UBL4B	164153	broad.mit.edu	37	1	110655500	110655500	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:110655500G>A	uc001dzc.3	+	0	439	c.344G>A	c.(343-345)aGg>aAg	p.R115K		NM_203412	NP_981957	Q8N7F7	UBL4B_HUMAN	Homo sapiens ubiquitin-like 4B (UBL4B), mRNA.	115						cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		CAGCTGCTAAGGCAGGAGCAC	0.637000														31			6		0	0	0.001984	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723398	58723398	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:58723398A>T	uc001nnh.2	+	6	950	c.900A>T	c.(898-900)gaA>gaT	p.E300D	GLYATL1_uc001nnf.3_Missense_Mutation_p.E269D|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.E269D|GLYATL1_uc001nnj.2_Missense_Mutation_p.E269D	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	269						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TGTTGGAAGAAAATGAAGACT	0.443000														38			14		0	0	0.003163	0	0
TRPM6	140803	broad.mit.edu	37	9	77425749	77425749	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:77425749G>A	uc004ajl.1	-	12	1717	c.1479C>T	c.(1477-1479)ctC>ctT	p.L493L	TRPM6_uc004ajk.1_Silent_p.L488L|TRPM6_uc022bib.1_Silent_p.L488L|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Silent_p.L493L|TRPM6_uc010mpd.1_Silent_p.L493L|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	493					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.H492Y(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CATCTTGGACGAGATGATGCA	0.378000														30			18		0	0	0.008871	0	0
NOTCH3	4854	broad.mit.edu	37	19	15289871	15289871	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:15289871C>T	uc002nan.3	-	21	3759	c.3683G>A	c.(3682-3684)gGa>gAa	p.G1228E	NOTCH3_uc002nao.1_Missense_Mutation_p.G1176E	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1228	EGF-like 31.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACGGAAACCTCCGCCTGGGTC	0.622000														24			10		0	0	0.006214	0	0
LAMA5	3911	broad.mit.edu	37	20	60887028	60887028	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:60887028C>T	uc002ycq.3	-	69	9650	c.9583G>A	c.(9583-9585)Ggc>Agc	p.G3195S	LAMA5_uc021wfw.1_Missense_Mutation_p.G3195S	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3195	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCGGCGAAGCCCGCTTGAGTT	0.647000														51			16		0	0	0.004007	0	0
CA10	56934	broad.mit.edu	37	17	50008440	50008440	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:50008440C>T	uc002itv.4	-	3	943	c.207G>A	c.(205-207)ggG>ggA	p.G69G	CA10_uc002itw.4_Silent_p.G63G|CA10_uc002itx.4_Silent_p.G63G|CA10_uc002ity.4_Silent_p.G63G|CA10_uc002itz.2_Silent_p.G63G	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	63					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			ACTGCCGTTTCCCCACAGAGC	0.493000														58			106		0	0	0.003610	0	0
CSMD1	64478	broad.mit.edu	37	8	2820869	2820869	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:2820869C>T	uc022aqr.1	-	59	9719	c.9329G>A	c.(9328-9330)gGa>gAa	p.G3110E	CSMD1_uc011kwj.2_Missense_Mutation_p.G2440E|CSMD1_uc010lrg.3_Missense_Mutation_p.G1002E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3111	Sushi 25.					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)		GAAATCACTTCCCTCCACTGT	0.582000														129			52		0	0	0.003610	0	0
TNIK	23043	broad.mit.edu	37	3	170906620	170906620	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:170906620C>T	uc003fhh.2	-	7	854	c.509_splice	c.e7-1	p.V170_splice	TNIK_uc003fhi.2_Splice_Site_p.V170_splice|TNIK_uc003fhj.2_Splice_Site_p.V170_splice|TNIK_uc003fhk.2_Splice_Site_p.V170_splice|TNIK_uc003fhl.2_Splice_Site_p.V170_splice|TNIK_uc003fhm.2_Splice_Site_p.V170_splice|TNIK_uc003fhn.2_Splice_Site_p.V170_splice|TNIK_uc003fho.2_Splice_Site_p.V170_splice	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	170	Protein kinase.				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)			CTCCAAAGTCCACTATTTAAG	0.373000														19			10		0	0	0.000978	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48183358	48183358	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:48183358G>A	uc002phh.4	+	5	1125	c.931G>A	c.(931-933)Ggg>Agg	p.G311R	GLTSCR1_uc002phi.4_Missense_Mutation_p.G69R	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 1 (GLTSCR1), mRNA.	311							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CGGAGGCGCGGGGGCCGCCTC	0.726000														5			3		0	0	0.009096	0	0
SLC2A9	56606	broad.mit.edu	37	4	9828112	9828112	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:9828112C>T	uc003gmc.3	-	11	1593	c.1532G>A	c.(1531-1533)aGc>aAc	p.S511N	SLC2A9_uc003gmd.3_Missense_Mutation_p.S482N	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	511					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						AAATGCCTGGCTGATTTCTGC	0.418000														43			36		0	0	0.002836	0	0
OGFRL1	79627	broad.mit.edu	37	6	72011334	72011334	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:72011334G>A	uc003pfx.1	+	6	1101	c.938G>A	c.(937-939)gGa>gAa	p.G313E		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	Homo sapiens opioid growth factor receptor-like 1 (OGFRL1), mRNA.	313						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						TTTATCTGGGGACCGCCTCGA	0.463000														33			13		0	0	0.001855	0	0
PDPN	10630	broad.mit.edu	37	1	13940889	13940889	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:13940889A>T	uc001avd.3	+	4	742	c.693A>T	c.(691-693)aaA>aaT	p.K231N	PDPN_uc001avc.3_Missense_Mutation_p.K231N|PDPN_uc009vob.3_Missense_Mutation_p.K113N|PDPN_uc009voc.3_Missense_Mutation_p.K113N|PDPN_uc001ave.3_Missense_Mutation_p.K113N|PDPN_uc001avf.3_Missense_Mutation_p.K113N	NM_006474	NP_001006625	Q86YL7	PDPN_HUMAN	Homo sapiens podoplanin (PDPN), transcript variant 1, mRNA.	155					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		TTATGCGAAAAATGTCGGGAA	0.418000														72			36		0	0	0.006999	0	0
ABCB11	8647	broad.mit.edu	37	2	169850324	169850324	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:169850324G>A	uc002ueo.1	-	7	806	c.680C>T	c.(679-681)aCc>aTc	p.T227I		NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	227	ABC transmembrane type-1 1.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ACCACAGATGGTCGAGGTCAT	0.428000														8			6		0	0	0.001168	0	0
TAF4	6874	broad.mit.edu	37	20	60589718	60589718	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:60589718G>C	uc002ybs.3	-	1	1406	c.1406C>G	c.(1405-1407)cCt>cGt	p.P469R		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	469					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GGCCTGCTGAGGAATCATTAA	0.627000														40			16		0	0	0.004990	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808916	18808916	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:18808916G>A	uc001bax.3	+	0	1493	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	KLHDC7A_uc009vpg.3_Missense_Mutation_p.E263K	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	481						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCAGAGCGCGAGCTGATCCT	0.657000														61			27		0	0	0.004656	0	0
TMEM2	23670	broad.mit.edu	37	9	74345064	74345064	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:74345064G>A	uc011lsa.1	-	8	2419	c.1879C>T	c.(1879-1881)Ccg>Tcg	p.P627S	TMEM2_uc010mos.2_Missense_Mutation_p.P564S|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	627						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGAGTACCCGGCTTGGTGAGG	0.453000														29			25		0	0	0.004656	0	0
PLCB4	5332	broad.mit.edu	37	20	9317805	9317805	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:9317805C>T	uc021wam.1	+	1	132	c.117C>T	c.(115-117)ttC>ttT	p.F39F	PLCB4_uc010gbw.1_Silent_p.F39F|PLCB4_uc010gbx.3_Silent_p.F39F|PLCB4_uc021wal.1_Silent_p.F39F	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	39					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.F39F(2)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ACTGCCTCTTCAAAGTGGATG	0.378000														52			7		0	0	0.000978	0	0
OR6K3	391114	broad.mit.edu	37	1	158687109	158687109	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:158687109G>A	uc021pbn.1	-	0	797	c.797C>T	c.(796-798)cCa>cTa	p.P266L		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CAAAACTGGTGGATAAGTGTC	0.448000														49			23		0	0	0.002299	0	0
OR4K13	390433	broad.mit.edu	37	14	20502859	20502859	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:20502859G>A	uc010tkz.2	-	0	59	c.59C>T	c.(58-60)tCt>tTt	p.S20F		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K19*(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAGATTTTGAGATTTGGAAAG	0.378000														30			8		0	0	0.006214	0	0
PEX10	5192	broad.mit.edu	37	1	2340004	2340004	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:2340004C>G	uc001ajg.3	-	2	556	c.487G>C	c.(487-489)Gcg>Ccg	p.A163P	PEX10_uc001ajh.3_Missense_Mutation_p.A163P	NM_153818	NP_722540	O60683	PEX10_HUMAN	Homo sapiens peroxisomal biogenesis factor 10 (PEX10), transcript variant 1, mRNA.	163					protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein C-terminus binding|protein binding|zinc ion binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		ACGAAGACCGCCCGCAGCAGC	0.672000														41			5		0	0	0.000602	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338463	13338463	+	RNA	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:13338463G>A	uc003gms.3	+	0		c.3427G>A								Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene (HSP90AB2P), non-coding RNA.											kidney(3)|lung(1)	4						TTTTTAGGCTGGCGCAGACAT	0.448000														8			9		0	0	0.006214	0	0
MYH1	4619	broad.mit.edu	37	17	10412913	10412913	+	Silent	SNP	G	A	A	rs141597159		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10412913G>A	uc002gmo.3	-	14	1570	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	492	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.F492F(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGTGGTGGTTGAAAAACTGTT	0.443000														24			35		0	0	0.003755	0	0
PCDH18	54510	broad.mit.edu	37	4	138451759	138451759	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:138451759C>T	uc003ihe.4	-	0	1871	c.1484G>A	c.(1483-1485)gGa>gAa	p.G495E	PCDH18_uc003ihf.4_Missense_Mutation_p.G488E|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.G275E|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	495	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCCATTTTCTCCAAGATCAGG	0.413000														65			17		0	0	0.001882	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916478	42916478	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:42916478G>A	uc003cmh.3	-	0	1156	c.831C>T	c.(829-831)ttC>ttT	p.F277F	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	277					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		AGAGCATCATGAAGTTGAACT	0.582000														11			15		0	0	0.004007	0	0
SLC2A2	6514	broad.mit.edu	37	3	170715855	170715855	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:170715855C>T	uc003fhe.1	-	10	1721	c.1412G>A	c.(1411-1413)gGa>gAa	p.G471E	SLC2A2_uc003fhf.1_Missense_Mutation_p.G298E|SLC2A2_uc011bpu.1_Missense_Mutation_p.G344E	NM_000340	NP_000331	P11168	GTR2_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA.	471					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			CAGGAGCACTCCAGCAAAGAG	0.413000														26			5		0	0	0.000602	0	0
CCDC102B	79839	broad.mit.edu	37	18	66504003	66504003	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:66504003G>A	uc002lkk.2	+	3	226	c.3G>A	c.(1-3)atG>atA	p.M1I	CCDC102B_uc002lki.2_Missense_Mutation_p.M1I|CCDC102B_uc002lkj.1_Missense_Mutation_p.M1I	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	1										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AAATAAATATGAATTTAGATT	0.358000														25			8		0	0	0.006214	0	0
NUP188	23511	broad.mit.edu	37	9	131745227	131745227	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:131745227C>T	uc004bws.1	+	16	1738	c.1716C>T	c.(1714-1716)gtC>gtT	p.V572V	NUP188_uc004bwu.3_5'Flank	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	572					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.L571L(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TTGATCTCGTCCATAAGGTCA	0.507000														62			40		0	0	0.007835	0	0
POU6F2	11281	broad.mit.edu	37	7	39503872	39503873	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:39503872_39503873CT>TC	uc003thb.2	+	10	1806_1807	c.1663_1664CT>TC	c.(1663-1665)ctt>TCt	p.L555S	POU6F2_uc022acb.1_Intron	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	555	POU-specific.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GAACCCTGGCCTTTTGTATCCT	0.550000														79			31		0	0	0.004672	0	0
COL4A5	1287	broad.mit.edu	37	X	107840644	107840644	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:107840644G>A	uc022ccg.1	+	23	1827	c.1625G>A	c.(1624-1626)gGa>gAa	p.G542E	COL4A5_uc004enz.1_Missense_Mutation_p.G542E|COL4A5_uc004eob.1_Missense_Mutation_p.G150E	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	542	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCTTTCCTGGATCTAAAGGT	0.453000									Alport syndrome with Diffuse Leiomyomatosis					24			43		0	0	0.003610	0	0
ZCWPW1	55063	broad.mit.edu	37	7	99999545	99999545	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:99999545C>T	uc003uut.3	-	16	1839	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	ZCWPW1_uc011kjq.2_Missense_Mutation_p.E411K|ZCWPW1_uc003uur.3_Intron|ZCWPW1_uc003uus.3_Intron|ZCWPW1_uc011kjr.2_Intron|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	531							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTTGGCCTTCTTTCCTTCCC	0.532000														83			19		0	0	0.006122	0	0
UMPS	7372	broad.mit.edu	37	3	124456812	124456812	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:124456812C>T	uc003ehl.4	+	2	814	c.708C>T	c.(706-708)atC>atT	p.I236I	UMPS_uc011bkb.2_Silent_p.I144I|UMPS_uc003ehn.4_Silent_p.I58I|UMPS_uc003ehm.4_Non-coding_Transcript|UMPS_uc011bka.2_Silent_p.I58I|UMPS_uc011bkc.2_Silent_p.I58I|UMPS_uc011bkd.2_Silent_p.I58I	NM_000373	NP_000364	P11172	UMPS_HUMAN	Homo sapiens uridine monophosphate synthetase (UMPS), transcript variant 1, mRNA.	236	OMPdecase.				'de novo' UMP biosynthetic process|'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		TGCCCAGGATCCACCCAGTTG	0.493000														45			5		0	0	0.001984	0	0
GPR39	2863	broad.mit.edu	37	2	133175434	133175434	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:133175434G>A	uc002ttl.3	+	0	1288	c.819G>A	c.(817-819)gaG>gaA	p.E273E		NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	273						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGAGCGAAGAGAGCAGGACCG	0.622000														63			19		0	0	0.001882	0	0
PPP3R2	5535	broad.mit.edu	37	9	104356750	104356750	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:104356750C>T	uc004bbr.3	-	0	534	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Non-coding_Transcript	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA.	152	EF-hand 4.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	GCACTGAATTCCTCAAAGGAT	0.507000														49			14		0	0	0.001855	0	0
TSPAN16	26526	broad.mit.edu	37	19	11408880	11408880	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:11408880G>A	uc002mqv.1	+	1	282	c.132G>A	c.(130-132)acG>acA	p.T44T	TSPAN16_uc002mqu.1_Non-coding_Transcript	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	Homo sapiens tetraspanin 16 (TSPAN16), mRNA.	44						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						CCTCTCTGACGAATGTCCTCG	0.537000														48			27		0	0	0.008361	0	0
MYH8	4626	broad.mit.edu	37	17	10304266	10304266	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:10304266C>T	uc002gmm.2	-	25	3360	c.3265G>A	c.(3265-3267)Gaa>Aaa	p.E1089K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1089					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGCTGATTTCAAATTCTTTC	0.333000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					11			9		0	0	0.004482	0	0
GSTM4	2948	broad.mit.edu	37	1	110212149	110212149	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:110212149G>A	uc001dyi.3	+	4	630	c.316G>A	c.(316-318)Gac>Aac	p.D106N	GSTM4_uc001dyj.3_Missense_Mutation_p.D106N|GSTM4_uc010ovt.2_Missense_Mutation_p.D106N|GSTM4_uc009wfk.3_Non-coding_Transcript	NM_000848	NP_000839	Q03013	GSTM4_HUMAN	Homo sapiens glutathione S-transferase mu 2 (muscle) (GSTM2), transcript variant 1, mRNA.	106	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	CCAGTTTATGGACAGCCGTAT	0.542000														18			13		0	0	0.002450	0	0
C15orf63	25764	broad.mit.edu	37	15	44092969	44092969	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:44092969C>T	uc001ztb.3	+	2	794	c.311C>T	c.(310-312)tCc>tTc	p.S104F	ELL3_uc001zsx.1_5'Flank|SERINC4_uc001ztc.1_5'Flank|SERINC4_uc010bds.1_5'Flank|SERINC4_uc001zte.1_5'Flank|C15orf63_uc001ztf.3_Missense_Mutation_p.S58F|C15orf63_uc021skf.1_Missense_Mutation_p.S58F|C15orf63_uc001ztg.1_Missense_Mutation_p.S50F	NM_016400	NP_057484	Q9NX55	HYPK_HUMAN	Homo sapiens chromosome 15 open reading frame 63 (C15orf63), transcript variant 1, mRNA.	58										endometrium(1)|large_intestine(1)|ovary(1)	3						ATCCAGAGTTCCAATCTGGAG	0.632000														12			3		0	0	0.009096	0	0
C10orf129	142827	broad.mit.edu	37	10	96967012	96967012	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:96967012C>T	uc001kke.3	+	3	576	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	C10orf129_uc009xuu.1_Missense_Mutation_p.R61C	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	151					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CAAGAAAATTCGCTATCAATT	0.458000														27			7		0	0	0.004482	0	0
SPTLC2	9517	broad.mit.edu	37	14	77978671	77978671	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:77978671C>T	uc001xub.3	-	11	1833	c.1645G>A	c.(1645-1647)Gac>Aac	p.D549N		NM_004863	NP_004854	O15270	SPTC2_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 2 (SPTLC2), mRNA.	549						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AAGGGCCTGTCCAGTAGAGGT	0.493000														67			9		0	0	0.004482	0	0
MFSD5	84975	broad.mit.edu	37	12	53647726	53647726	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:53647726C>T	uc001sch.2	+	1	1575	c.1428C>T	c.(1426-1428)atC>atT	p.I476I	MFSD5_uc001sci.2_Silent_p.I369I|MFSD5_uc021qye.1_Silent_p.I369I	NM_001170790	NP_116278	Q6N075	MFSD5_HUMAN	Homo sapiens major facilitator superfamily domain containing 5 (MFSD5), transcript variant 1, mRNA.	369					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						GAAAGGTGATCCCTGAGACAG	0.517000														27			49		0	0	0.003610	0	0
FAM75E1	286234	broad.mit.edu	37	9	90499516	90499516	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:90499516C>T	uc004app.4	+	2	410	c.375C>T	c.(373-375)atC>atT	p.I125I	FAM75E1_uc004apo.1_Intron	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	125						integral to membrane											CTTGCAGAATCCTCCTGAGGG	0.572000														37			6		0	0	0.001984	0	0
SLC25A21	89874	broad.mit.edu	37	14	37153959	37153959	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:37153959G>A	uc001wtz.2	-	7	1085	c.775C>T	c.(775-777)Cag>Tag	p.Q259*	SLC25A21_uc021rsf.1_Nonsense_Mutation_p.Q259*	NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 (SLC25A21), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	259					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		CCTTCTTCCTGATAGACTGTT	0.383000														82			19		0	0	0.007413	0	0
COL20A1	57642	broad.mit.edu	37	20	61945238	61945238	+	Nonsense_Mutation	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:61945238A>T	uc011aau.2	+	17	2453	c.2353A>T	c.(2353-2355)Aaa>Taa	p.K785*	COL20A1_uc011aav.2_Nonsense_Mutation_p.K606*	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	785	Fibronectin type-III 6.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGGACCCGAGAAATCCGTGAG	0.667000														22			5		0	0	0.001984	0	0
CLCNKA	1187	broad.mit.edu	37	1	16355340	16355340	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:16355340G>A	uc001axu.3	+	11	1133	c.1053_splice	c.e11+1	p.R351_splice	CLCNKA_uc001axt.3_Splice_Site|CLCNKA_uc010obw.2_Splice_Site_p.R308_splice|CLCNKA_uc001axv.3_Splice_Site_p.R351_splice|CLCNKA_uc010obx.1_Splice_Site|CLCNKA_uc010oby.1_Splice_Site_p.A81_splice|CLCNKA_uc021ogl.1_5'Flank	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	351					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TAGCTTCTCGGGTAAGGGGTC	0.617000														48			30		0	0	0.003271	0	0
IMPG1	3617	broad.mit.edu	37	6	76751728	76751728	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:76751728G>A	uc003pik.1	-	1	313	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	61					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.F61F(2)|p.F61L(2)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTGCCAAATCGAATATTCGTC	0.368000														61			22		0	0	0.001882	0	0
ZNF462	58499	broad.mit.edu	37	9	109687619	109687619	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:109687619C>T	uc004bcz.3	+	2	1715	c.1426C>T	c.(1426-1428)Ccg>Tcg	p.P476S	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.P324S|ZNF462_uc004bda.3_Missense_Mutation_p.P324S	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	476					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P476Q(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGACGAATGTCCGTTTACTTG	0.458000														48			14		0	0	0.001855	0	0
TRANK1	9881	broad.mit.edu	37	3	36898104	36898105	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:36898104_36898105CC>AT	uc003cgj.3	-	11	3224_3225	c.2976_2977GG>AT	c.(2974-2979)atggcc>atATcc	p.992_993MA>IS		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	992					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.M442I(2)|p.M992I(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ATGTTAAAGGCCATGTTGGTGC	0.535000														143			57		0	0	0.004672	0	0
LIPF	8513	broad.mit.edu	37	10	90429616	90429616	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:90429616G>A	uc001kfg.2	+	4	559	c.445G>A	c.(445-447)Gac>Aac	p.D149N	LIPF_uc001kfh.2_Missense_Mutation_p.D126N|LIPF_uc010qmt.2_Missense_Mutation_p.D159N|LIPF_uc010qmu.2_Missense_Mutation_p.D116N	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	149					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		GGCTAAATATGACCTTCCAGC	0.378000														73			18		0	0	0.006122	0	0
HEPHL1	341208	broad.mit.edu	37	11	93800693	93800694	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:93800693_93800694GG>AA	uc001pep.2	+	4	997_998	c.840_841GG>AA	c.(838-843)ccggag>ccAAag	p.E281K	AF086184_uc001pen.1_Non-coding_Transcript	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	281	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GAAACTTCCCGGAGCCTGATAT	0.465000														97			17		0	0	0.004672	0	0
CSF1R	1436	broad.mit.edu	37	5	149452973	149452973	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:149452973C>T	uc003lrl.3	-	5	1168	c.973G>A	c.(973-975)Gtg>Atg	p.V325M	CSF1R_uc011dcd.2_Missense_Mutation_p.V177M|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Missense_Mutation_p.V325M|CSF1R_uc011dce.1_Intron	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	325	Ig-like C2-type 4.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TAGGCCTCCACCATGACTTTG	0.552000														93			34		0	0	0.003271	0	0
MMP26	56547	broad.mit.edu	37	11	5010967	5010967	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5010967G>A	uc001lzv.3	+	1	207	c.189G>A	c.(187-189)cgG>cgA	p.R63R		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	63					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R63P(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		AATTCCATCGGAATGGGACAG	0.522000														25			6		0	0	0.001168	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891813	2891813	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:2891813G>A	uc002kln.3	+	3	1847	c.1688G>A	c.(1687-1689)gGg>gAg	p.G563E		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	563					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AAGCCTCATGGGATGGAAGGT	0.488000														47			11		0	0	0.000978	0	0
NDNF	79625	broad.mit.edu	37	4	121957507	121957507	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:121957507G>A	uc003idq.1	-	3	2146	c.1619C>T	c.(1618-1620)tCt>tTt	p.S540F		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	540	Fibronectin type-III 2.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CAGCAGGTAAGATTTGCCAGG	0.403000														21			25		0	0	0.005443	0	0
T-Cell_Receptor_V-alpha_region	0	broad.mit.edu	37	14	22409825	22409825	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:22409825G>A	uc021rpl.1	+	1	358	c.315G>A	c.(313-315)gcG>gcA	p.A105A	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc001wck.3_Silent_p.A105A					SubName: Full=V-alpha 22; Flags: Precursor; Fragment;																		CAGACTCAGCGGTGTACTTCT	0.537000														28			16		0	0	0.004990	0	0
PDE3B	5140	broad.mit.edu	37	11	14891083	14891083	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:14891083G>A	uc001mln.3	+	15	3569	c.3216G>A	c.(3214-3216)tgG>tgA	p.W1072*	PDE3B_uc010rcr.2_Nonsense_Mutation_p.W1021*	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	1072	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	Golgi apparatus|cytosol|endoplasmic reticulum|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACAAGATATGGAAGGAAATCG	0.383000														42			19		0	0	0.008871	0	0
KIAA1244	57221	broad.mit.edu	37	6	138601144	138601144	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:138601144C>T	uc003qhu.3	+	13	2475	c.2304C>T	c.(2302-2304)ttC>ttT	p.F768F		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	768	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGAAGGACTTCATGAAGCAGG	0.547000														39			16		0	0	0.006122	0	0
ATP8B4	79895	broad.mit.edu	37	15	50264922	50264922	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:50264922C>T	uc001zxu.3	-	12	1242	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	ATP8B4_uc010ber.3_Missense_Mutation_p.R240Q|ATP8B4_uc010ufd.2_Missense_Mutation_p.R240Q|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	367					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(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TATTGCTTTTCGAGAATAATA	0.408000														20			4		0	0	0.001168	0	0
NBEAL1	65065	broad.mit.edu	37	2	204031988	204031988	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:204031988C>T	uc002uzt.3	+	36	6148	c.5815C>T	c.(5815-5817)Cga>Tga	p.R1939*	NBEAL1_uc021vvj.1_Nonsense_Mutation_p.R642*	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1939							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTCTCAAATTCGAGAGATTCA	0.368000														215			112		0	0	0.003610	0	0
NPHP3	27031	broad.mit.edu	37	3	132409388	132409388	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:132409388G>A	uc003epe.2	-	18	2781	c.2677C>T	c.(2677-2679)Caa>Taa	p.Q893*	NPHP3_uc003epd.2_Nonsense_Mutation_p.Q135*	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	893					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TAAAGGTTTTGAGACACAAAG	0.358000														27			13		0	0	0.003163	0	0
ATP2B2	491	broad.mit.edu	37	3	10381990	10381990	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:10381990G>A	uc003bvt.3	-	20	3612	c.3173C>T	c.(3172-3174)cCa>cTa	p.P1058L	ATP2B2_uc003bvv.3_Missense_Mutation_p.P1013L|ATP2B2_uc003bvw.3_Missense_Mutation_p.P1013L|ATP2B2_uc010hdo.3_Missense_Mutation_p.P763L	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	1058					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CAGCTGCAGTGGAGAGCAGCT	0.557000														42			25		0	0	0.008361	0	0
TBC1D8	11138	broad.mit.edu	37	2	101655105	101655105	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:101655105C>T	uc010fiv.3	-	6	1179	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	TBC1D8_uc010yvw.2_Missense_Mutation_p.E365K|TBC1D8_uc002tau.4_Missense_Mutation_p.E107K	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	350	GRAM 2.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TCCATCTTCTCGATGCTCACC	0.557000														56			15		0	0	0.004990	0	0
PGPEP1L	145814	broad.mit.edu	37	15	99512832	99512832	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:99512832C>T	uc002bum.3	-	3	493	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	PGPEP1L_uc010bop.3_Missense_Mutation_p.E11K|PGPEP1L_uc002bun.3_Missense_Mutation_p.E11K	NM_001102612	NP_001161374	A6NFU8	PGPIL_HUMAN	Homo sapiens pyroglutamyl-peptidase I-like (PGPEP1L), transcript variant 1, mRNA.	65					proteolysis		cysteine-type peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						CCAGACTGTTCCAGAATGATC	0.632000														44			17		0	0	0.006122	0	0
KIAA0564	23078	broad.mit.edu	37	13	42259190	42259190	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:42259190G>A	uc001uyj.3	-	34	4390	c.4320C>T	c.(4318-4320)taC>taT	p.Y1440Y		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1440						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TACCTTTTGGGTAGATATCTT	0.363000														18			17		0	0	0.008871	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883939	19883939	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:19883939G>A	uc010vav.2	-	1	538	c.307C>T	c.(307-309)Ctc>Ttc	p.L103F	GPRC5B_uc021tef.1_Missense_Mutation_p.L69F|GPRC5B_uc002dgt.3_Missense_Mutation_p.L77F	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	77										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CGCACCAGGAGGATGAGCATC	0.637000														33			9		0	0	0.008291	0	0
SLAMF8	56833	broad.mit.edu	37	1	159802870	159802870	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:159802870G>A	uc001fue.4	+	2	782	c.572G>A	c.(571-573)gGa>gAa	p.G191E		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	191	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					ATTTCCCTGGGACCAGGAGAC	0.547000														40			19		0	0	0.007413	0	0
TRAT1	50852	broad.mit.edu	37	3	108568024	108568024	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:108568024G>A	uc003dxi.1	+	4	370	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	TRAT1_uc010hpx.1_Missense_Mutation_p.E39K	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	76					T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						ACCAATGGATGAAAATTGCTA	0.343000														28			9		0	0	0.004482	0	0
LIPE	3991	broad.mit.edu	37	19	42910379	42910379	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:42910379G>A	uc002otr.3	-	6	2576	c.2299C>T	c.(2299-2301)Ctg>Ttg	p.L767L	AK311181_uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	767					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				AGGCTCAGCAGGCGGGAGGGA	0.657000														25			15		0	0	0.002450	0	0
GPR101	83550	broad.mit.edu	37	X	136112662	136112662	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:136112662C>T	uc011mwh.2	-	0	1172	c.1172G>A	c.(1171-1173)aGg>aAg	p.R391K		NM_054021	NP_473362	Q96P66	GP101_HUMAN	Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.	391						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CTGGTAGCACCTGGGCAGAGG	0.537000														21			25		0	0	0.004656	0	0
ZNF292	23036	broad.mit.edu	37	6	87964474	87964474	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:87964474C>T	uc003plm.4	+	7	1168	c.1127C>T	c.(1126-1128)tCa>tTa	p.S376L		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAGACCATTTCATGTTTGTTG	0.403000														53			21		0	0	0.002780	0	0
C1orf55	163859	broad.mit.edu	37	1	226183025	226183025	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:226183025G>A	uc001hpu.4	-	1	233	c.180C>T	c.(178-180)gaC>gaT	p.D60D		NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	Homo sapiens chromosome 1 open reading frame 55 (C1orf55), mRNA.	60										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(13)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(184;0.197)					GCTGCACTGTGTCACTGGTGT	0.388000														53			9		0	0	0.006214	0	0
COBL	23242	broad.mit.edu	37	7	51094344	51094344	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:51094344C>T	uc003tps.3	-	11	3759	c.3574G>A	c.(3574-3576)Gag>Aag	p.E1192K	COBL_uc003tpr.4_Missense_Mutation_p.E1135K|COBL_uc011kcl.2_Missense_Mutation_p.E1135K|COBL_uc003tpp.4_Missense_Mutation_p.E921K|COBL_uc003tpq.4_Missense_Mutation_p.E1076K|COBL_uc003tpo.4_Missense_Mutation_p.E677K	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	1135										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGCCTGCCCTCCCCGGTGTGT	0.547000														77			47		0	0	0.003610	0	0
AQPEP	206338	broad.mit.edu	37	5	115346571	115346571	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:115346571G>A	uc003kro.3	+	13	2391	c.2227G>A	c.(2227-2229)Gat>Aat	p.D743N	AQPEP_uc003krp.3_Intron|AQPEP_uc003krs.3_Intron|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	743					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										GAACATCTATGATATATACTC	0.323000														30			4		0	0	0.009096	0	0
PRSS12	8492	broad.mit.edu	37	4	119256771	119256771	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:119256771C>T	uc003ica.2	-	2	724	c.677G>A	c.(676-678)gGa>gAa	p.G226E		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	226	SRCR 1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AAGGCCCAGTCCAGAAAACGG	0.403000														22			25		0	0	0.007291	0	0
NEIL1	79661	broad.mit.edu	37	15	75641615	75641615	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:75641615G>A	uc002bae.3	+	1	780	c.627G>A	c.(625-627)tgG>tgA	p.W209*	NEIL1_uc002bad.3_Nonsense_Mutation_p.W123*	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	Homo sapiens nei endonuclease VIII-like 1 (E. coli) (NEIL1), mRNA.	123					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	DNA-(apurinic or apyrimidinic site) lyase activity|damaged DNA binding|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						TCGGCCGCTGGGACCTTGGGG	0.672000								Base excision repair (BER), DNA glycosylases						32			22		0	0	0.002780	0	0
LIPF	8513	broad.mit.edu	37	10	90427138	90427138	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:90427138C>T	uc001kfg.2	+	1	198	c.84C>T	c.(82-84)agC>agT	p.S28S	LIPF_uc009xtk.3_Silent_p.S28S|LIPF_uc001kfh.2_Silent_p.S38S|LIPF_uc010qmt.2_Silent_p.S38S|LIPF_uc010qmu.2_Silent_p.S28S	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	28					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity	p.G27E(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		ATCCTGGAAGCCCTGAAGTGA	0.338000														28			7		0	0	0.003080	0	0
HYDIN	54768	broad.mit.edu	37	16	70935048	70935048	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:70935048C>T	uc002ezr.3	-	52	9055	c.8904G>A	c.(8902-8904)cgG>cgA	p.R2968R		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2969								p.R2968R(1)|p.R2920R(1)|p.R526R(1)		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)				GGCTGGTGATCCGCCAGGCCA	0.527000														36			7		0	0	0.001855	0	0
SCN11A	11280	broad.mit.edu	37	3	38889091	38889091	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:38889091C>T	uc021wvy.1	-	25	4669	c.4470G>A	c.(4468-4470)ctG>ctA	p.L1490L		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1490					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)	GCGACATCATCAGAGCAAAGA	0.483000														25			14		0	0	0.002450	0	0
ANK1	286	broad.mit.edu	37	8	41581147	41581147	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:41581147C>T	uc003xok.3	-	7	800	c.716G>A	c.(715-717)gGc>gAc	p.G239D	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.G239D|ANK1_uc003xoj.3_Missense_Mutation_p.G239D|ANK1_uc003xol.3_Missense_Mutation_p.G239D|ANK1_uc003xom.3_Missense_Mutation_p.G272D	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	239	89 kDa 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)			TGGCGTGATGCCGTTCTGAAG	0.642000														40			7		0	0	0.001984	0	0
AGL	178	broad.mit.edu	37	1	100368320	100368320	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:100368320C>T	uc001dsi.1	+	26	4070	c.3670C>T	c.(3670-3672)Ccc>Tcc	p.P1224S	AGL_uc001dsj.1_Missense_Mutation_p.P1224S|AGL_uc001dsk.1_Missense_Mutation_p.P1224S|AGL_uc001dsl.1_Missense_Mutation_p.P1224S|AGL_uc001dsm.1_Missense_Mutation_p.P1208S|AGL_uc001dsn.1_Missense_Mutation_p.P1207S	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	1224					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GAATGCTGGTCCCCAGATAGA	0.388000														25			21		0	0	0.010504	0	0
TARSL2	123283	broad.mit.edu	37	15	102201982	102201982	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:102201982G>A	uc002bxm.3	-	15	2060	c.2005C>T	c.(2005-2007)Cat>Tat	p.H669Y	TARSL2_uc002bxl.3_Missense_Mutation_p.H214Y|TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	669					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)			ATGGCTCGATGAATGATCACA	0.333000														18			7		0	0	0.004482	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558180	140558180	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140558180G>A	uc011dai.2	+	0	810	c.565G>A	c.(565-567)Ggc>Agc	p.G189S	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	189	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGCAGTGATGGCAGGAAATA	0.502000														21			6		0	0	0.001984	0	0
EPHB3	2049	broad.mit.edu	37	3	184289160	184289160	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:184289160C>T	uc003foz.3	+	1	610	c.173C>T	c.(172-174)cCa>cTa	p.P58L		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	58						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ACATCTCATCCAGAAAGTGGG	0.537000														35			21		0	0	0.002780	0	0
OR7E24	26648	broad.mit.edu	37	19	9362580	9362580	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:9362580G>C	uc002mlb.1	+	0	861	c.861G>C	c.(859-861)agG>agC	p.R287S		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CATCCCCCAGGAAGAGTATGG	0.512000														31			13		0	0	0.004990	0	0
MUC4	4585	broad.mit.edu	37	3	195517235	195517235	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:195517235T>G	uc021xjp.1	-	1	1372	c.1216A>C	c.(1216-1218)Aac>Cac	p.N406H	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.N288H	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	411					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCCTCTGTGTTTCCAAGAGTA	0.453000														61			42		0	0	0.006999	0	0
ZNF215	7762	broad.mit.edu	37	11	6977606	6977606	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:6977606C>T	uc001mey.3	+	6	1986	c.1398C>T	c.(1396-1398)aaC>aaT	p.N466N	ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Silent_p.N228N|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	466					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AATGTGTTAACTGTGGAAAAT	0.393000														34			25		0	0	0.003954	0	0
LSAMP	4045	broad.mit.edu	37	3	115805178	115805178	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:115805178G>A	uc011bis.2	-	1	888	c.381C>T	c.(379-381)atC>atT	p.I127I	LSAMP_uc003ebs.3_Silent_p.I127I	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	Homo sapiens limbic system-associated membrane protein (LSAMP), mRNA.	127					cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		TACCTTGTACGATCAAGTAAA	0.443000														22			5		0	0	0.000602	0	0
DGCR14	8220	broad.mit.edu	37	22	19121774	19121774	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr22:19121774G>A	uc002zou.3	-	9	1403	c.1366C>T	c.(1366-1368)Ccg>Tcg	p.P456S		NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 14 (DGCR14), mRNA.	456					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					ATGGAGGCCGGGTCCTGTGTG	0.657000														25			13		0	0	0.001855	0	0
ZNF300	91975	broad.mit.edu	37	5	150275445	150275445	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:150275445G>A	uc021yfx.1	-	6	1832	c.1404C>T	c.(1402-1404)ctC>ctT	p.L468L	ZNF300_uc021yfy.1_Silent_p.L452L|ZNF300_uc021yfz.1_Silent_p.L416L	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGTGTAATGAGTTCTGTCT	0.413000														23			5		0	0	0.000602	0	0
CADPS	8618	broad.mit.edu	37	3	62451123	62451123	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:62451123G>A	uc003dll.2	-	25	3915	c.3555C>T	c.(3553-3555)ttC>ttT	p.F1185F	CADPS_uc003dlj.1_Silent_p.F140F|CADPS_uc003dlk.1_Silent_p.F633F|CADPS_uc003dlm.2_Silent_p.F1146F|CADPS_uc003dln.2_Silent_p.F1106F|CADPS_uc021wzv.1_Silent_p.F1176F	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1185	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.F1146F(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AGATAGTAACGAACTAGAAAA	0.358000														100			47		0	0	0.002852	0	0
CHST4	10164	broad.mit.edu	37	16	71570864	71570864	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:71570864G>A	uc021tkt.1	+	0	284	c.284G>A	c.(283-285)cGg>cAg	p.R95Q	CHST4_uc002fan.3_Missense_Mutation_p.R95Q|CHST4_uc002fao.3_Missense_Mutation_p.R95Q	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	95					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ATGGCTGTGCGGGATCTGATA	0.577000														35			9		0	0	0.004482	0	0
FCHO2	115548	broad.mit.edu	37	5	72333013	72333013	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:72333013C>T	uc003kcl.3	+	9	1001	c.885C>T	c.(883-885)atC>atT	p.I295I	FCHO2_uc011csl.2_Silent_p.I262I|FCHO2_uc011csk.1_Silent_p.I295I	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	Homo sapiens FCH domain only 2 (FCHO2), transcript variant 1, mRNA.	295										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TGCCAGGAATCATTAAAAAGG	0.249000														13			5		0	0	0.001984	0	0
LHCGR	3973	broad.mit.edu	37	2	48915500	48915500	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:48915500C>T	uc002rwu.4	-	10	1506	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	479					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.R479L(2)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	ATGTCTTAATCGCAGCTTTTG	0.448000														45			6		0	0	0.001168	0	0
GRIA1	2890	broad.mit.edu	37	5	153065888	153065888	+	Splice_Site	SNP	A	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:153065888A>T	uc011dcy.2	+	8	1191	c.1164_splice	c.e8+1	p.K388_splice	GRIA1_uc003lva.4_Splice_Site_p.K378_splice|GRIA1_uc003luy.4_Splice_Site_p.K378_splice|GRIA1_uc003luz.4_Splice_Site_p.K283_splice|GRIA1_uc011dcv.2_Splice_Site|GRIA1_uc011dcw.2_Splice_Site_p.K298_splice|GRIA1_uc011dcx.2_Splice_Site_p.K309_splice|GRIA1_uc011dcz.2_Splice_Site_p.K388_splice|GRIA1_uc010jia.1_Splice_Site_p.K358_splice	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	378					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGCATCCGAAAGGTAAGGTCC	0.507000														26			9		0	0	0.004482	0	0
MYH7B	57644	broad.mit.edu	37	20	33581170	33581170	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:33581170G>A	uc002xbi.2	+	25	2784	c.2467G>A	c.(2467-2469)Gaa>Aaa	p.E823K	MIR499B_uc021wch.1_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	781						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGGCGTCCTGGAAGAGCTCCG	0.662000														29			10		0	0	0.001368	0	0
OR52J3	119679	broad.mit.edu	37	11	5068330	5068330	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:5068330G>A	uc010qyv.2	+	0	575	c.575G>A	c.(574-576)gGa>gAa	p.G192E		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	192					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)		TTGTCCTGTGGAAACATTCGT	0.433000														68			26		0	0	0.003330	0	0
RGS7BP	401190	broad.mit.edu	37	5	63802466	63802466	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:63802466G>A	uc003jtj.3	+	0	15	c.15G>A	c.(13-15)ccG>ccA	p.P5P		NM_001029875	NP_001025046	Q6MZT1	R7BP_HUMAN	Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA.	5					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		GTTCTGCACCGAATGGGCGCA	0.692000														17			7		0	0	0.003080	0	0
ABCA12	26154	broad.mit.edu	37	2	215872484	215872484	+	Silent	SNP	G	A	A	rs142281650		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:215872484G>A	uc002vew.3	-	18	2779	c.2559C>T	c.(2557-2559)ttC>ttT	p.F853F	ABCA12_uc002vev.3_Silent_p.F535F|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.	853					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)		TTAACAGATGGAAGGAATTCA	0.378000														36			14		0	0	0.003163	0	0
C10orf53	282966	broad.mit.edu	37	10	50916662	50916662	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:50916662G>A	uc001jid.1	+	2	533	c.473G>A	c.(472-474)tGa>tAa	p.*158*		NM_182554	NP_872360	Q8N6V4	CJ053_HUMAN	Homo sapiens chromosome 10 open reading frame 53 (C10orf53), transcript variant 1, mRNA.	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				cagccctactgaaatcgacag	0.468000														52			13		0	0	0.002450	0	0
TBX15	6913	broad.mit.edu	37	1	119466167	119466167	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:119466167G>A	uc001ehl.1	-	4	750	c.435C>T	c.(433-435)ttC>ttT	p.F145F		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	251						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GGTCACTGCTGAAGTCTTTGC	0.463000														55			26		0	0	0.005443	0	0
GPC5	2262	broad.mit.edu	37	13	92101047	92101047	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr13:92101047C>T	uc010tif.2	+	1	562	c.196C>T	c.(196-198)Cct>Tct	p.P66S		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	66						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ATCCAAAAAGCCTACATGTTG	0.393000														23			18		0	0	0.010504	0	0
CDH4	1002	broad.mit.edu	37	20	60499465	60499465	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:60499465G>A	uc002ybn.2	+	10	1790	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M	CDH4_uc002ybr.2_Missense_Mutation_p.V531M|CDH4_uc002ybp.2_Missense_Mutation_p.V494M	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	568	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CACGGCGGCAGTGCTGGACCG	0.617000														31			7		0	0	0.003080	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157210	26157210	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:26157210G>A	uc022bub.1	+	0	108	c.108G>A	c.(106-108)gaG>gaA	p.E36E	MAGEB18_uc004dbq.2_Silent_p.E36E	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	36							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CAGAAGGAGAGTCACCCTCCC	0.577000														15			8		0	0	0.004482	0	0
PKP2	5318	broad.mit.edu	37	12	32993999	32993999	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:32993999C>T	uc001rlj.4	-	6	1766	c.1651G>A	c.(1651-1653)Gat>Aat	p.D551N	PKP2_uc001rlk.4_Missense_Mutation_p.D507N|PKP2_uc010skj.2_Missense_Mutation_p.D507N	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	551					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ATGTCAAAATCGAGCAAACCA	0.438000														68			88		0	0	0.003610	0	0
WDR60	55112	broad.mit.edu	37	7	158718935	158718935	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:158718935C>T	uc003woe.4	+	17	2473	c.2315C>T	c.(2314-2316)tCa>tTa	p.S772L	WDR60_uc010lqv.3_Non-coding_Transcript|WDR60_uc010lqw.3_Missense_Mutation_p.S404L	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	772										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		GAACCTATCTCAACGTCCGTC	0.433000														10			8		0	0	0.008291	0	0
ZNF727	442319	broad.mit.edu	37	7	63529389	63529389	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:63529389T>G	uc011kdm.2	+	1	303	c.124T>G	c.(124-126)Tcc>Gcc	p.S42A		NM_001159522	NP_001152994	A8MUV8	ZN727_HUMAN	Homo sapiens zinc finger protein 727 (ZNF727), mRNA.	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F41V(1)		endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						AAACCTGTTCTCCTTGGGTGA	0.378000														2			2		0	0	0.004672	0	0
FAM129C	199786	broad.mit.edu	37	19	17653061	17653061	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:17653061G>A	uc021uqj.1	+	10	1518	c.1380G>A	c.(1378-1380)ggG>ggA	p.G460G	FAM129C_uc021uqi.1_Silent_p.G460G|FAM129C_uc002ngy.4_Silent_p.G186G|FAM129C_uc010xpu.2_Silent_p.G186G|FAM129C_uc002ngz.4_Non-coding_Transcript|FAM129C_uc010eaw.3_Silent_p.G186G|FAM129C_uc002nhb.3_Silent_p.G59G	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.	460										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GCTTTCTGGGGATGCAGAGCC	0.637000														120			74		0	0	0.003610	0	0
WDFY3	23001	broad.mit.edu	37	4	85674967	85674967	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:85674967G>A	uc003hpd.3	-	34	6030	c.5622C>T	c.(5620-5622)ttC>ttT	p.F1874F		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1874						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATATCTGAAGAACTGCATCA	0.483000														23			12		0	0	0.001368	0	0
PLG	5340	broad.mit.edu	37	6	161173212	161173212	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:161173212C>T	uc003qtm.4	+	17	2303	c.2191C>T	c.(2191-2193)Cgc>Tgc	p.R731C		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	731	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGTGTGCAATCGCTATGAGTT	0.473000														35			25		0	0	0.003954	0	0
abParts	0	broad.mit.edu	37	14	106494363	106494363	+	RNA	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:106494363G>A	uc021ser.1	-	2337		c.41289C>T								Parts of antibodies, mostly variable regions.																		AGAACCCAGAGAAGGTGCAGG	0.557000														23			17		0	0	0.004990	0	0
VAV1	7409	broad.mit.edu	37	19	6853061	6853061	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:6853061C>T	uc002mfu.1	+	24	2400	c.2303C>T	c.(2302-2304)cCt>cTt	p.P768L	VAV1_uc010xjh.1_Missense_Mutation_p.P736L|VAV1_uc010dva.1_Missense_Mutation_p.P746L|VAV1_uc002mfv.1_Missense_Mutation_p.P713L	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	768					T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TTCAAGGAGCCTGAAAAGAGA	0.547000														32			17		0	0	0.008871	0	0
SMOC2	64094	broad.mit.edu	37	6	169053845	169053845	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:169053845G>A	uc003qwr.2	+	10	1475	c.1255G>A	c.(1255-1257)Gaa>Aaa	p.E419K	SMOC2_uc003qws.2_Missense_Mutation_p.E408K|SMOC2_uc011egu.2_Missense_Mutation_p.E85K	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	Homo sapiens SPARC related modular calcium binding 2 (SMOC2), transcript variant 1, mRNA.	408	EF-hand 2.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CTCCGTACAAGAACTGATGGG	0.498000														30			23		0	0	0.004656	0	0
KCNH5	27133	broad.mit.edu	37	14	63246599	63246599	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:63246599G>A	uc001xfx.3	-	9	1917	c.1866C>T	c.(1864-1866)acC>acT	p.T622T	KCNH5_uc001xfy.3_Intron|KCNH5_uc001xfz.1_Silent_p.T564T	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	622					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CATGGGCAAGGGTGGTTTCCT	0.438000														28			5		0	0	0.001168	0	0
SMR3A	26952	broad.mit.edu	37	4	71232443	71232443	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:71232443G>A	uc003hfg.1	+	2	218	c.137G>A	c.(136-138)gGa>gAa	p.G46E	SMR3A_uc011cas.2_Intron	NM_012390	NP_036522	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3A (SMR3A), mRNA.	46	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TTTCCTTTTGGAACAGGATTT	0.552000														22			15		0	0	0.006122	0	0
MYH14	79784	broad.mit.edu	37	19	50812329	50812329	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:50812329C>T	uc010enu.1	+	41	5902	c.5855C>T	c.(5854-5856)tCc>tTc	p.S1952F	MYH14_uc002prq.1_Missense_Mutation_p.S1919F|MYH14_uc002prr.1_Missense_Mutation_p.S1911F|MYH14_uc010ycb.2_Missense_Mutation_p.S262F|MYH14_uc002prs.1_Missense_Mutation_p.S262F	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1911					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GAGGAGGCATCCCGGGCTCAG	0.622000														26			13		0	0	0.001855	0	0
ALPK3	57538	broad.mit.edu	37	15	85406124	85406124	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:85406124G>A	uc002ble.3	+	9	5161	c.4994G>A	c.(4993-4995)aGa>aAa	p.R1665K	ALPK3_uc010upc.2_5'Flank	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1665	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTTGTGGGCAGAAACTACGAC	0.552000														63			6		0	0	0.006214	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147157	52147157	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:52147157G>A	uc002pxf.4	-	4	1007	c.887C>T	c.(886-888)tCc>tTc	p.S296F		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA.	296	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGAGGTCTGGGAAGGATTGAG	0.617000														61			5		0	0	0.001168	0	0
BIN1	274	broad.mit.edu	37	2	127821520	127821520	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:127821520G>A	uc002tns.2	-	7	1071	c.687C>T	c.(685-687)tcC>tcT	p.S229S	BIN1_uc010yzf.2_Silent_p.S174S|BIN1_uc002tnt.2_Silent_p.S198S|BIN1_uc010yzg.2_Silent_p.S229S|BIN1_uc002tnu.2_Silent_p.S198S|BIN1_uc002tnv.2_Silent_p.S229S|BIN1_uc002tnw.2_Silent_p.S198S|BIN1_uc002tnx.2_Silent_p.S198S|BIN1_uc002tny.2_Silent_p.S229S|BIN1_uc002tnz.2_Silent_p.S198S|BIN1_uc002toa.2_Silent_p.S198S|BIN1_uc002tob.2_Silent_p.S198S|BIN1_uc002toc.2_Silent_p.S198S	NM_139343	NP_647593	O00499	BIN1_HUMAN	Homo sapiens bridging integrator 1 (BIN1), transcript variant 1, mRNA.	229	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGTTCCACAGGGACGGCAGCT	0.652000														42			8		0	0	0.003080	0	0
LGALS13	29124	broad.mit.edu	37	19	40097951	40097951	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:40097951C>T	uc002omb.3	+	3	432	c.392C>T	c.(391-393)tCc>tTc	p.S131F		NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 13 (LGALS13), mRNA.	131	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	p.I130I(1)		lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			AGAGATATCTCCCTGACCTCA	0.473000														42			17		0	0	0.006122	0	0
COL24A1	255631	broad.mit.edu	37	1	86210408	86210408	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:86210408C>T	uc001dlj.3	-	56	4688	c.4613G>A	c.(4612-4614)cGa>cAa	p.R1538Q	COL24A1_uc001dli.3_Missense_Mutation_p.R653Q|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.R838Q|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1538	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGGGTTATCTCGTGTGCCAAG	0.368000														49			27		0	0	0.007291	0	0
ACACB	32	broad.mit.edu	37	12	109631465	109631465	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:109631465C>T	uc001tob.3	+	15	2531	c.2412C>T	c.(2410-2412)ctC>ctT	p.L804L	ACACB_uc001toc.3_Silent_p.L804L	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	804					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GCCAGGTCCTCCCAGCGGATT	0.493000														12			25		0	0	0.009535	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110029767	110029767	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:110029767C>T	uc001dxr.3	+	3	452	c.437C>T	c.(436-438)tCc>tTc	p.S146F	ATXN7L2_uc001dxs.3_5'Flank	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	146										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AAAACCTCCTCCAGGGAGAAG	0.617000														260			127		0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82763878	82763878	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82763878C>T	uc003uhx.2	-	2	3277	c.2988G>A	c.(2986-2988)gtG>gtA	p.V996V	PCLO_uc003uhv.2_Silent_p.V996V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	942					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.V996V(6)|p.V942V(2)		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						TTTCCTTTTTCACAGGTATAC	0.468000														31			8		0	0	0.006214	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202391754	202391754	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:202391754C>T	uc001gya.2	+	2	579	c.429C>T	c.(427-429)ttC>ttT	p.F143F	PPP1R12B_uc001gxy.3_Silent_p.F143F|PPP1R12B_uc009xae.2_Silent_p.F143F|PPP1R12B_uc009xad.2_Intron	NM_002481	NP_002472	O60237	MYPT2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12B (PPP1R12B), transcript variant 1, mRNA.	143					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GCAGGTATTTCATTAATCACG	0.413000														61			15		0	0	0.006122	0	0
PCLO	27445	broad.mit.edu	37	7	82451874	82451874	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:82451874C>T	uc003uhx.2	-	19	15017	c.14728G>A	c.(14728-14730)Gaa>Aaa	p.E4910K	PCLO_uc003uhv.2_Missense_Mutation_p.E4910K|PCLO_uc003uht.1_Missense_Mutation_p.E352K|PCLO_uc003uhu.1_Missense_Mutation_p.E331K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4772					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						CCTGCATCTTCCAGGTGGGTC	0.507000														141			52		0	0	0.003610	0	0
UNC13C	440279	broad.mit.edu	37	15	54305702	54305702	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:54305702G>A	uc021smr.1	+	0	602	c.602G>A	c.(601-603)aGc>aAc	p.S201N	UNC13C_uc021sms.1_Missense_Mutation_p.S201N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	201					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)		TCAGAGTTAAGCACCATGAAA	0.458000														73			22		0	0	0.001882	0	0
USP39	10713	broad.mit.edu	37	2	85872198	85872198	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:85872198C>T	uc002sqe.3	+	10	1591	c.1555C>T	c.(1555-1557)Ctt>Ttt	p.L519F	USP39_uc002sqb.3_Missense_Mutation_p.L250F|USP39_uc010ysu.2_Missense_Mutation_p.L441F|USP39_uc010ysv.2_Missense_Mutation_p.L416F|USP39_uc010fgn.1_Missense_Mutation_p.L519F|USP39_uc002sqg.3_Missense_Mutation_p.L519F|USP39_uc010fgo.3_Intron	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	Homo sapiens ubiquitin specific peptidase 39 (USP39), mRNA.	519					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						GATCCACGTGCTTCATCATGT	0.527000														30			10		0	0	0.001368	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3669801	3669801	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:3669801C>T	uc002wja.3	-	20	5070	c.5070_splice	c.e20+1	p.Q1690_splice	SIGLEC1_uc002wiz.4_Intron|SIGLEC1_uc002wjb.1_3'UTR	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1690					cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TGAATGGATACCTGCGTGGTC	0.532000														63			41		0	0	0.002522	0	0
D21847	0	broad.mit.edu	37	14	22090085	22090085	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr14:22090085C>T	uc001wbi.2	+	0	75	c.62C>T	c.(61-63)tCc>tTc	p.S21F						Homo sapiens mRNA for T cell receptor alpha variable 1, partial cds, clone: SEB 133.																		CTCTATGTTTCCATGAAGATG	0.428000														38			11		0	0	0.001368	0	0
ANK3	288	broad.mit.edu	37	10	61834328	61834328	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:61834328C>T	uc001jky.3	-	36	6649	c.6311G>A	c.(6310-6312)gGa>gAa	p.G2104E	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2104					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGTATCTGTTCCAAAAAAGGA	0.408000														34			13		0	0	0.001368	0	0
PRKCB	5579	broad.mit.edu	37	16	24166058	24166058	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:24166058G>A	uc002dmd.3	+	9	1316	c.1119G>A	c.(1117-1119)ctG>ctA	p.L373L	PRKCB_uc002dme.3_Silent_p.L373L	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	373	Protein kinase.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TGAAGATCCTGAAGAAGGACG	0.552000														48			5		0	0	0.001168	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55378900	55378900	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:55378900C>T	uc003pcn.3	-	5	737	c.578G>A	c.(577-579)gGa>gAa	p.G193E	HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Missense_Mutation_p.G163E|HMGCLL1_uc010jzx.3_Missense_Mutation_p.G64E|HMGCLL1_uc011dxc.2_Missense_Mutation_p.G131E|HMGCLL1_uc011dxd.2_Intron|HMGCLL1_uc003pcp.3_Missense_Mutation_p.G131E	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	193							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTCAAATTTTCCCATACTTTC	0.368000														41			12		0	0	0.001368	0	0
MARCH6	10299	broad.mit.edu	37	5	10426625	10426625	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:10426625C>T	uc003jet.1	+	23	2680	c.2497C>T	c.(2497-2499)Cct>Tct	p.P833S	MARCH6_uc011cmu.1_Missense_Mutation_p.P785S|MARCH6_uc003jeu.1_Missense_Mutation_p.P531S|MARCH6_uc011cmv.1_Missense_Mutation_p.P728S	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	833					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TGGTGTTGTTCCTTTACTAGG	0.433000														62			26		0	0	0.008361	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117960038	117960038	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:117960038G>A	uc004equ.3	+	3	1304	c.831G>A	c.(829-831)gtG>gtA	p.V277V	ZCCHC12_uc022cdh.1_Silent_p.V277V	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ATGAGGATGTGATCCTGGTGG	0.572000														18			22		0	0	0.002299	0	0
PCDH19	57526	broad.mit.edu	37	X	99661934	99661934	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:99661934G>A	uc010nmz.3	-	0	3338	c.1662C>T	c.(1660-1662)ctC>ctT	p.L554L	PCDH19_uc004efw.4_Silent_p.L554L|PCDH19_uc004efx.4_Silent_p.L554L	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	554	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CGTTGACGTCGAGGATGATGA	0.582000														27			48		0	0	0.003610	0	0
SORL1	6653	broad.mit.edu	37	11	121437754	121437754	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:121437754C>T	uc001pxx.3	+	21	3284	c.3155C>T	c.(3154-3156)cCa>cTa	p.P1052L		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1052	EGF-like.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGTGTGCTTCCATCAGGGGAC	0.532000														23			6		0	0	0.001984	0	0
DUOX2	50506	broad.mit.edu	37	15	45389545	45389545	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:45389545G>A	uc001zun.3	-	28	3941	c.3738C>T	c.(3736-3738)ttC>ttT	p.F1246F	DUOX2_uc010bea.3_Silent_p.F1246F	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1246	Ferric oxidoreductase.				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)		AGTAGATGTGGAAAGTGGGCA	0.592000														50			17		0	0	0.007413	0	0
EFEMP1	2202	broad.mit.edu	37	2	56097878	56097878	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:56097878C>T	uc002rzi.3	-	10	1798	c.1297G>A	c.(1297-1299)Gaa>Aaa	p.E433K	EFEMP1_uc002rzj.3_Missense_Mutation_p.E433K|EFEMP1_uc010ypc.2_Missense_Mutation_p.E295K	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	433	Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCTCCATTTTCATTTCCAGAT	0.403000														31			13		0	0	0.002450	0	0
KCNF1	3754	broad.mit.edu	37	2	11053886	11053886	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:11053886C>T	uc002rax.3	+	0	1824	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	445						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		ACCGGGGGCTCCCGCAGTGAC	0.667000														26			5		0	0	0.000602	0	0
ATAD2	29028	broad.mit.edu	37	8	124371873	124371873	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:124371873G>A	uc003yqh.4	-	9	1318	c.1210C>T	c.(1210-1212)Cga>Tga	p.R404*	ATAD2_uc011lii.2_Nonsense_Mutation_p.R195*|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Nonsense_Mutation_p.R404*	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ATTTTCATTCGATCTTTATAA	0.353000														33			9		0	0	0.000978	0	0
FLNB	2317	broad.mit.edu	37	3	58112447	58112447	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:58112447G>A	uc003djj.2	+	23	4345	c.4180G>A	c.(4180-4182)Gat>Aat	p.D1394N	FLNB_uc010hne.2_Missense_Mutation_p.D1394N|FLNB_uc003djk.2_Missense_Mutation_p.D1394N|FLNB_uc010hnf.2_Missense_Mutation_p.D1394N|FLNB_uc003djl.2_Missense_Mutation_p.D1225N|FLNB_uc003djm.2_Missense_Mutation_p.D1225N	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1394	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CGCACCGGGGGATTACGATGT	0.478000														37			24		0	0	0.004656	0	0
GKN2	200504	broad.mit.edu	37	2	69173445	69173445	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:69173445C>T	uc002sfa.3	-	4	572	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	GKN2_uc002sfb.4_Missense_Mutation_p.E155K	NM_182536	NP_872342	Q86XP6	GKN2_HUMAN	Homo sapiens gastrokine 2 (GKN2), mRNA.	155						extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						CGTGTGTTTTCAACCACTTCC	0.443000														70			32		0	0	0.002096	0	0
MACF1	23499	broad.mit.edu	37	1	39799709	39799709	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:39799709C>T	uc021olw.1	+	0	2769	c.2769C>T	c.(2767-2769)tcC>tcT	p.S923S	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2488	SH3.				Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTGTGCAGTCCATTGACAGAG	0.403000														129			68		0	0	0.003610	0	0
TRIM37	4591	broad.mit.edu	37	17	57134354	57134354	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:57134354G>A	uc002iwy.4	-	12	1525	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	TRIM37_uc002iwz.4_Nonsense_Mutation_p.R361*|TRIM37_uc002ixa.4_Nonsense_Mutation_p.R239*|TRIM37_uc010woc.2_Nonsense_Mutation_p.R327*	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	361	MATH.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GCAAATTCTCGAATGATATTT	0.343000									Mulibrey Nanism					14			22		0	0	0.002299	0	0
FIBIN	387758	broad.mit.edu	37	11	27016343	27016343	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:27016343G>A	uc001mrd.3	+	0	716	c.270G>A	c.(268-270)caG>caA	p.Q90Q		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA.	90						Golgi apparatus|extracellular region				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						TGGGCCGCCAGGTGGAGGATG	0.667000														14			7		0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179587620	179587620	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179587620C>G	uc021vsy.1	-	72	18499	c.18274G>C	c.(18274-18276)Gtt>Ctt	p.V6092L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V2753L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7019	Ig-like 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATCTCCAACTGCTGCCTCC	0.418000														11			8		0	0	0.003080	0	0
FASTKD2	22868	broad.mit.edu	37	2	207655359	207655359	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:207655359C>T	uc002vbu.3	+	10	2372	c.1962C>T	c.(1960-1962)ttC>ttT	p.F654F	FASTKD2_uc002vbv.3_Silent_p.F654F|FASTKD2_uc002vbx.3_Silent_p.F654F|FASTKD2_uc002vbw.1_3'UTR	NM_001136193	NP_055744	Q9NYY8	FAKD2_HUMAN	Homo sapiens FAST kinase domains 2 (FASTKD2), transcript variant 2, mRNA.	654	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		CCAGAGGATTCCTTGCTATGA	0.353000														94			62		0	0	0.003610	0	0
OR5D16	390144	broad.mit.edu	37	11	55606305	55606305	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:55606305A>C	uc010rio.2	+	0	78	c.78A>C	c.(76-78)caA>caC	p.Q26H		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L25Q(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGGAACTGCAAATTCCCCTCT	0.433000														47			37		0	0	0.005524	0	0
COL5A1	1289	broad.mit.edu	37	9	137687129	137687129	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:137687129C>T	uc004cfe.3	+	33	3149	c.2767C>T	c.(2767-2769)Ccc>Tcc	p.P923S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	923	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.P923S(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGAAAGAGGCCCCCGGGGCAT	0.637000														75			11		0	0	0.001368	0	0
CCNY	219771	broad.mit.edu	37	10	35819114	35819114	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:35819114C>T	uc001iyw.4	+	6	702	c.522C>T	c.(520-522)ttC>ttT	p.F174F	CCNY_uc001iyu.4_Silent_p.F120F|CCNY_uc001iyv.4_Silent_p.F120F|CCNY_uc001iyx.4_Silent_p.F120F|CCNY_uc009xmb.3_Silent_p.F149F|CCNY_uc010qet.2_Silent_p.F41F	NM_145012	NP_859049	Q8ND76	CCNY_HUMAN	Homo sapiens cyclin Y (CCNY), transcript variant 1, mRNA.	174	Cyclin N-terminal.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TTTACCGGTTCGTTCGGACAC	0.532000														17			7		0	0	0.003080	0	0
LAMB3	3914	broad.mit.edu	37	1	209799120	209799120	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:209799120C>T	uc001hhg.3	-	12	2239	c.1849G>A	c.(1849-1851)Gac>Aac	p.D617N	LAMB3_uc009xco.3_Missense_Mutation_p.D617N|LAMB3_uc001hhh.3_Missense_Mutation_p.D617N|LAMB3_uc010psl.1_Intron|MIR4260_uc021pil.1_5'Flank	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	617	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGGCCACGGTCCTCCAGCCCA	0.622000														43			28		0	0	0.003271	0	0
RCAN2	10231	broad.mit.edu	37	2	174131021	174131021	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:174131021C>T	uc002uhz.3	+	19	2146	c.1946C>T	c.(1945-1947)tCc>tTc	p.S649F	MLK7-AS1_uc002uib.3_Intron	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AACTTCTCTTCCCTACATCTC	0.483000														38			13		0	0	0.001368	0	0
TAF1L	138474	broad.mit.edu	37	9	32631765	32631765	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:32631765C>T	uc003zrg.1	-	0	3903	c.3813G>A	c.(3811-3813)aaG>aaA	p.K1271K	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1271					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTTTCATTTTCTTGGGCTTCT	0.478000														59			16		0	0	0.004007	0	0
FMNL2	114793	broad.mit.edu	37	2	153475652	153475652	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:153475652C>T	uc002tye.3	+	13	1974	c.1607C>T	c.(1606-1608)tCa>tTa	p.S536L	FMNL2_uc010fob.3_5'Flank|FMNL2_uc002tyf.3_5'Flank	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	536	Pro-rich.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CTGCCTCCCTCATCAGACACA	0.532000														19			6		0	0	0.001984	0	0
IGFBPL1	347252	broad.mit.edu	37	9	38414197	38414197	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:38414197G>A	uc004aba.3	-	1	487	c.464C>T	c.(463-465)cCt>cTt	p.P155L		NM_001007563	NP_001007564	Q8WX77	IBPL1_HUMAN	Homo sapiens insulin-like growth factor binding protein-like 1 (IGFBPL1), mRNA.	155	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		GACGACCACAGGAGCTAGGAG	0.617000														40			9		0	0	0.006214	0	0
VWA7	80737	broad.mit.edu	37	6	31734953	31734953	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:31734953G>A	uc011dog.2	-	12	2102	c.1864C>T	c.(1864-1866)Ctg>Ttg	p.L622L	VWA7_uc003nxd.2_Silent_p.L297L	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	622						extracellular region											GGCTGAGTCAGGGGGTAGAGG	0.478000														164			70		0	0	0.003610	0	0
SEPT14	346288	broad.mit.edu	37	7	55863612	55863612	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:55863612C>T	uc003tqz.2	-	9	1410	c.1293G>A	c.(1291-1293)aaG>aaA	p.K431K		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	431					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACTATTATTTCTTACGATGTT	0.373000														49			23		0	0	0.002780	0	0
SRRM2	23524	broad.mit.edu	37	16	2815393	2815393	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:2815393C>T	uc002crk.3	+	10	5413	c.4864C>T	c.(4864-4866)Cct>Tct	p.P1622S	SRRM2_uc002crj.1_Missense_Mutation_p.P1526S|SRRM2_uc002crl.1_Missense_Mutation_p.P1622S|SRRM2_uc010bsu.1_Missense_Mutation_p.P1526S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1622	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TGATTCCTCTCCTGAACCTAA	0.562000														32			16		0	0	0.004990	0	0
SEC31B	25956	broad.mit.edu	37	10	102257790	102257790	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:102257790G>A	uc001krc.1	-	14	1961	c.1859C>T	c.(1858-1860)tCc>tTc	p.S620F	SEC31B_uc010qpo.1_Missense_Mutation_p.S619F|SEC31B_uc001krd.1_Missense_Mutation_p.S157F|SEC31B_uc001krf.1_Missense_Mutation_p.S157F|SEC31B_uc001kre.1_Missense_Mutation_p.S157F|SEC31B_uc001krg.1_Missense_Mutation_p.S189F	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	620					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGTTACCGAGGAGATTTTGGT	0.527000														29			17		0	0	0.004990	0	0
TRIM56	81844	broad.mit.edu	37	7	100730624	100730624	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100730624C>T	uc003uxq.3	+	2	262	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L	TRIM56_uc003uxr.3_Silent_p.L11L|TRIM56_uc022aiw.1_Silent_p.L11L	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.	11					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCCTCCCTCCTGGAGGCCCT	0.612000														84			50		0	0	0.003610	0	0
NCAM2	4685	broad.mit.edu	37	21	22804491	22804491	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr21:22804491C>T	uc002yld.2	+	11	1793	c.1544C>T	c.(1543-1545)tCc>tTc	p.S515F	NCAM2_uc011acb.2_Missense_Mutation_p.S373F	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	515	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCCAAGGTTTCCTTCAACAAA	0.453000														17			19		0	0	0.002299	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986462	51986462	+	Nonsense_Mutation	SNP	G	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:51986462G>T	uc002pwv.1	+	4	1048	c.1048G>T	c.(1048-1050)Gag>Tag	p.E350*		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	350	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCTTGCCTGGGAGCAGATGGG	0.542000														59			35		4.3181e-19	4.77294e-19	0.002836	1	0
CYP7A1	1581	broad.mit.edu	37	8	59404243	59404243	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:59404243G>A	uc003xtm.4	-	5	1369	c.1306C>T	c.(1306-1308)Ccc>Tcc	p.P436S		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	436					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GATCCAAAGGGCATGTAGTAA	0.353000									Neonatal Giant Cell Hepatitis					102			11		0	0	0.000978	0	0
TMEM117	84216	broad.mit.edu	37	12	44238716	44238716	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:44238716C>T	uc001rod.3	+	1	328	c.262C>T	c.(262-264)Cat>Tat	p.H88Y	TMEM117_uc001roe.3_Missense_Mutation_p.P17L|TMEM117_uc009zkc.3_Missense_Mutation_p.H88Y	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	Homo sapiens transmembrane protein 117 (TMEM117), mRNA.	88						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		ATTTCTGTTCCATCAGCGTTT	0.373000														22			35		0	0	0.008740	0	0
SLC38A1	81539	broad.mit.edu	37	12	46591502	46591502	+	Splice_Site	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:46591502C>T	uc009zkj.1	-	16	2047	c.1362_splice	c.e16+1	p.W454_splice	SLC38A1_uc001rpb.3_Splice_Site_p.W454_splice|SLC38A1_uc001rpc.3_Splice_Site_p.W454_splice|SLC38A1_uc001rpd.3_Splice_Site_p.W454_splice|SLC38A1_uc001rpe.3_Splice_Site_p.W454_splice|SLC38A1_uc001rpa.3_Splice_Site_p.W454_splice	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	454					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AAGAGACATACCCAAATTCTT	0.343000														24			36		0	0	0.008740	0	0
HRNR	388697	broad.mit.edu	37	1	152190845	152190845	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:152190845G>A	uc001ezt.1	-	2	3336	c.3260C>T	c.(3259-3261)tCg>tTg	p.S1087L		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1087					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCACAGCTCGATGACTGTCC	0.562000														187			113		0	0	0.003610	0	0
GIGYF1	64599	broad.mit.edu	37	7	100285673	100285673	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:100285673G>A	uc003uwg.1	-	1	1105	c.96C>T	c.(94-96)ccC>ccT	p.P32P		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	32										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCTTGTATTTGGGCATGGCAG	0.637000														54			8		0	0	0.004482	0	0
CD8A	925	broad.mit.edu	37	2	87017743	87017743	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:87017743C>T	uc002srt.3	-	1	1000	c.111G>A	c.(109-111)gaG>gaA	p.E37E	RMND5A_uc002srs.4_Intron|CD8A_uc002srv.3_Silent_p.E37E|CD8A_uc010ytn.2_Silent_p.E78E|CD8A_uc002sru.3_Silent_p.E37E	NM_001768	NP_001759	P01732	CD8A_HUMAN	Homo sapiens CD8a molecule (CD8A), transcript variant 1, mRNA.	37	Ig-like V-type.				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|extracellular region|integral to plasma membrane	MHC class I protein binding|coreceptor activity			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GCTCCACTGTCTCGCCCAGGT	0.716000														25			16		0	0	0.007413	0	0
SULT2A1	6822	broad.mit.edu	37	19	48382323	48382323	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:48382323G>A	uc002phr.2	-	3	677	c.537C>T	c.(535-537)ttC>ttT	p.F179F		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA.	179					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		TCAGTAACAGGAAGTTTTTCT	0.448000														114			55		0	0	0.003610	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100222183	100222183	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:100222183C>T	uc003knk.3	-	2	695	c.367G>A	c.(367-369)Gat>Aat	p.D123N	ST8SIA4_uc003knl.3_Missense_Mutation_p.D123N	NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	123					N-glycan processing|axon guidance	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CTATGTAGATCATGAGAAATG	0.443000														54			19		0	0	0.001882	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220386237	220386237	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:220386237G>A	uc010puk.1	-	3	542	c.378C>T	c.(376-378)gtC>gtT	p.V126V	RAB3GAP2_uc021pjf.1_Silent_p.V126V|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_5'UTR|RAB3GAP2_uc010pum.1_Silent_p.V126V	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	126					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		ACCCTTCTTCGACATTTAAGG	0.308000														24			10		0	0	0.001368	0	0
FFAR3	2865	broad.mit.edu	37	19	35850271	35850271	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:35850271C>T	uc002nzd.3	+	1	554	c.479C>T	c.(478-480)tCc>tTc	p.S160F	FFAR3_uc021usm.1_Missense_Mutation_p.S160F	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	160						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GGGGACATCTCCCACAGCCAG	0.622000														44			9		0	0	0.000978	0	0
POTEE	445582	broad.mit.edu	37	2	132021798	132021798	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:132021798G>A	uc002tsn.2	+	14	2822	c.2770G>A	c.(2770-2772)Gag>Aag	p.E924K	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.E524K|POTEE_uc002tsl.2_Missense_Mutation_p.E506K|POTEE_uc010fmy.1_Missense_Mutation_p.E388K	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	924	Actin-like.						ATP binding										CCTGGACTTCGAGCAGGAGAT	0.602000														148			27		0	0	0.007291	0	0
DTWD1	56986	broad.mit.edu	37	15	49924493	49924493	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:49924493C>T	uc001zxq.3	+	3	679	c.402C>T	c.(400-402)gaC>gaT	p.D134D	DTWD1_uc001zxs.3_Silent_p.D134D|DTWD1_uc001zxr.3_Silent_p.D47D	NM_020234	NP_064619	Q8N5C7	DTWD1_HUMAN	Homo sapiens DTW domain containing 1 (DTWD1), transcript variant 1, mRNA.	134										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		AAGAAAAGGACCATGAAGTAG	0.318000														48			9		0	0	0.001368	0	0
LOC100509575	100509575	broad.mit.edu	37	X	47970732	47970732	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:47970732G>A	uc011mlv.2	+	3	345	c.273G>A	c.(271-273)ggG>ggA	p.G91G	LOC100509575_uc022bvt.1_Non-coding_Transcript	NM_001205103	NP_001192032	B7Z813	B7Z813_HUMAN	Homo sapiens putative protein SSX6-like (LOC100509575), mRNA.	91					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding										GTAACCGTGGGAATGAGGGTG	0.488000														3			3		0	0	0.004672	0	0
ADAM28	10863	broad.mit.edu	37	8	24187614	24187614	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:24187614G>A	uc003xdy.3	+	10	1172	c.1089G>A	c.(1087-1089)atG>atA	p.M363I	ADAM28_uc003xdx.3_Missense_Mutation_p.M363I|ADAM28_uc011kzz.2_Missense_Mutation_p.M130I|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.M50I	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	363	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TATGTGTGATGGACAAAGCAC	0.468000														47			27		0	0	0.007291	0	0
TRMT12	55039	broad.mit.edu	37	8	125463294	125463294	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:125463294C>T	uc003yra.4	+	0	247	c.126C>T	c.(124-126)ctC>ctT	p.L42L		NM_017956	NP_060426	Q53H54	TYW2_HUMAN	Homo sapiens tRNA methyltransferase 12 homolog (S. cerevisiae) (TRMT12), mRNA.	42					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGCAGAAACTCTTTGATACAC	0.557000														40			8		0	0	0.004482	0	0
ANXA10	11199	broad.mit.edu	37	4	169086397	169086397	+	Splice_Site	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:169086397G>A	uc003irm.3	+	6	565	c.401_splice	c.e6-1	p.Q134_splice	ANXA10_uc003irn.3_Missense_Mutation_p.E6K	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	134							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		TTCTTATACAGAATACAGCAA	0.348000														8			16		0	0	0.004990	0	0
ODZ3	55714	broad.mit.edu	37	4	183650163	183650163	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:183650163C>T	uc003ivd.1	+	12	2489	c.2414C>T	c.(2413-2415)tCc>tTc	p.S805F	ODZ3_uc003ive.1_Missense_Mutation_p.S211F	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	805					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)		CTACAGAGTTCCTGCCAGAAT	0.468000														11			11		0	0	0.000978	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56807801	56807801	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:56807801G>A	uc003dih.2	-	4	346	c.236C>T	c.(235-237)tCg>tTg	p.S79L	ARHGEF3_uc011bew.1_Missense_Mutation_p.S47L|ARHGEF3_uc011bev.1_Missense_Mutation_p.S18L|ARHGEF3_uc003dif.2_Missense_Mutation_p.S53L|ARHGEF3_uc003dig.2_Missense_Mutation_p.S47L|ARHGEF3_uc010hmy.1_5'UTR|ARHGEF3_uc003dii.2_Missense_Mutation_p.S47L	NM_001128615	NP_001122087	Q9NR81	ARHG3_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3 (ARHGEF3), transcript variant 1, mRNA.	47					Rho protein signal transduction|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GTTTGCTAGCGACGTGACTCG	0.463000														87			45		0	0	0.003610	0	0
TCEA2	6919	broad.mit.edu	37	20	62701940	62701941	+	Silent	DNP	CC	TT	TT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:62701940_62701941CC>TT	uc021wgq.1	+	7	1427_1428	c.771_772CC>TT	c.(769-774)gacctg>gaTTtg	p.257_258DL>DL	TCEA2_uc021wgp.1_Silent_p.230_231DL>DL	NM_003195	NP_942016	Q15560	TCEA2_HUMAN	Homo sapiens transcription elongation factor A (SII), 2 (TCEA2), transcript variant 1, mRNA.	257					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CGCAGACAGACCTGTTCACCTG	0.629000														10			6		0	0	0.004672	0	0
GALNT13	114805	broad.mit.edu	37	2	155295165	155295165	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:155295165G>A	uc002tyt.4	+	9	1561	c.1457G>A	c.(1456-1458)aGa>aAa	p.R486K	GALNT13_uc002tyr.4_Missense_Mutation_p.R486K|GALNT13_uc010fod.3_Splice_Site_p.T219_splice|AX746678_uc002tyu.1_Intron	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	486	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GATGTTTCTAGACTCAATGGA	0.318000														33			27		0	0	0.009535	0	0
LAMA2	3908	broad.mit.edu	37	6	129663546	129663546	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:129663546G>A	uc021zfb.1	+	29	4475	c.4370G>A	c.(4369-4371)gGa>gAa	p.G1457E	LAMA2_uc003qbn.3_Missense_Mutation_p.G1457E|LAMA2_uc003qbo.3_Missense_Mutation_p.G1457E	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1457	Laminin EGF-like 15.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.G1457R(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGATACTATGGAATTGTCAAG	0.388000														56			30		0	0	0.002445	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217443	150217443	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr7:150217443G>A	uc003whk.3	+	1	511	c.381G>A	c.(379-381)atG>atA	p.M127I	GIMAP7_uc022apu.1_Missense_Mutation_p.M127I	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	127							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)		TGAAGCACATGGTCATCTTGT	0.512000														40			8		0	0	0.004482	0	0
LPPR4	9890	broad.mit.edu	37	1	99767441	99767441	+	Silent	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:99767441T>C	uc001dse.3	+	5	1112	c.954T>C	c.(952-954)atT>atC	p.I318I	LPPR4_uc010oue.2_Intron	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 4 (LPPR4), transcript variant 1, mRNA.	318							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GAGGAGGAATTGCACTGTACT	0.348000														44			21		0	0	0.004656	0	0
USP6NL	9712	broad.mit.edu	37	10	11505080	11505080	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:11505080G>A	uc001iks.1	-	13	1941	c.1898C>T	c.(1897-1899)cCg>cTg	p.P633L	USP6NL_uc001ikt.3_Missense_Mutation_p.P616L	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.	616						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TAGCTGGGACGGATATCGTGC	0.527000														24			6		0	0	0.001984	0	0
RGPD4	285190	broad.mit.edu	37	2	108487731	108487731	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:108487731G>A	uc010ywk.2	+	19	3353	c.3271G>A	c.(3271-3273)Gag>Aag	p.E1091K	RGPD4_uc002tdu.3_Missense_Mutation_p.E278K|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1091	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCTCAAAAACGAGGTCAATGG	0.408000														284			85		0	0	0.003610	0	0
SLC15A2	6565	broad.mit.edu	37	3	121658222	121658222	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:121658222G>A	uc003eep.2	+	19	1941	c.1788G>A	c.(1786-1788)tgG>tgA	p.W596*	SLC15A2_uc011bjn.1_Nonsense_Mutation_p.W565*	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	596					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TTCAGGCCTGGAAGATTGAAG	0.448000														36			26		0	0	0.008361	0	0
CTSL3	392360	broad.mit.edu	37	9	90388119	90388119	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:90388119G>A	uc004apm.1	+	1	190	c.184G>A	c.(184-186)Gat>Aat	p.D62N						Homo sapiens cathepsin L family member 3 (CTSL3), non-coding RNA.											endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	15						CAAATCTGTGGATTGGAGAGA	0.502000														24			8		0	0	0.004482	0	0
TGM3	7053	broad.mit.edu	37	20	2321170	2321170	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:2321170C>T	uc002wfx.4	+	12	2122	c.2025C>T	c.(2023-2025)ttC>ttT	p.F675F		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	675					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TCGCCGACTTCTCCTGCAACA	0.602000														52			23		0	0	0.002299	0	0
COL21A1	81578	broad.mit.edu	37	6	56044907	56044907	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr6:56044907C>T	uc003pcs.3	-	2	341	c.109G>A	c.(109-111)Gat>Aat	p.D37N	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.D37N|COL21A1_uc003pcu.1_Missense_Mutation_p.D37N	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	37	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AAAACTAAATCTGTCGGAGCA	0.333000														18			11		0	0	0.008291	0	0
CES4A	283848	broad.mit.edu	37	16	67038103	67038103	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr16:67038103G>A	uc002eqv.3	+	8	1240	c.1125G>A	c.(1123-1125)ctG>ctA	p.L375L	CES4A_uc010vix.2_Silent_p.L352L|CES4A_uc002eqw.3_Silent_p.L352L|CES4A_uc010viy.2_Silent_p.L258L|CES4A_uc002eqx.3_Silent_p.L158L|CES4A_uc002eqy.3_Silent_p.L254L	NM_001190201	NP_001177130	Q5XG92	EST4A_HUMAN	Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA.	352						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						TCAACAACCTGGAATTCAATT	0.512000														72			23		0	0	0.003330	0	0
TTN	7273	broad.mit.edu	37	2	179590236	179590236	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:179590236C>T	uc021vsy.1	-	67	17188	c.16963G>A	c.(16963-16965)Gaa>Aaa	p.E5655K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E2316K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6582	Ig-like 37.						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)			CTGATGTTTTCACTTTCTCTA	0.418000														43			9		0	0	0.006214	0	0
OR4M2	390538	broad.mit.edu	37	15	22368629	22368629	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr15:22368629C>T	uc010tzu.2	+	0	152	c.54C>T	c.(52-54)tcC>tcT	p.S18S	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTGGCCTATCCCAGACTCCAG	0.353000														67			35		0	0	0.004878	0	0
ASXL3	80816	broad.mit.edu	37	18	31325889	31325889	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:31325889C>T	uc010dmg.1	+	11	6132	c.6077C>T	c.(6076-6078)cCt>cTt	p.P2026L	ASXL3_uc002kxq.2_Missense_Mutation_p.P1733L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	2026	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ccccctccccctccacccttg	0.587000														3			3		0	0	0.004672	0	0
ILDR1	286676	broad.mit.edu	37	3	121712060	121712060	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:121712060G>A	uc003ees.3	-	6	1739	c.1536C>T	c.(1534-1536)taC>taT	p.Y512Y	ILDR1_uc003eeq.3_Silent_p.Y480Y|ILDR1_uc003eer.3_Silent_p.Y468Y|ILDR1_uc010hrg.3_Silent_p.Y423Y	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	512						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CAAGTGAGCGGTAGCTAGGCG	0.642000														11			3		0	0	0.004672	0	0
RNF123	63891	broad.mit.edu	37	3	49735880	49735880	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:49735880T>C	uc003cxh.3	+	7	577	c.491T>C	c.(490-492)gTt>gCt	p.V164A	RNF123_uc010hky.1_5'Flank|RNF123_uc003cxi.3_5'Flank	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	164	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TAGGAGGGGGTTGGAGATACA	0.567000														34			14		0	0	0.003163	0	0
OR2M2	391194	broad.mit.edu	37	1	248343415	248343415	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:248343415C>T	uc010pzf.2	+	0	128	c.128C>T	c.(127-129)tCt>tTt	p.S43F		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N42Y(2)|p.N42K(1)		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)			ATGGGAAACTCTGTCATGGTT	0.527000														166			91		0	0	0.003610	0	0
FDXACB1	91893	broad.mit.edu	37	11	111749799	111749799	+	Silent	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:111749799G>A	uc001pmc.4	-	0	383	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L	ALG9_uc010rwo.2_5'UTR|FDXACB1_uc009yyi.3_5'UTR|C11orf1_uc001pmd.3_5'Flank|C11orf1_uc001pme.3_5'Flank	NM_138378	NP_612387	Q9BRP7	FDXA1_HUMAN	Homo sapiens ferredoxin-fold anticodon binding domain containing 1 (FDXACB1), transcript variant 1, mRNA.	20					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						GTTTCGCTCAGAGCGGCGGCG	0.657000											OREG0021330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			10		0	0	0.003163	0	0
SCN2A	6326	broad.mit.edu	37	2	166210825	166210825	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:166210825G>A	uc002udc.3	+	16	3333	c.3043G>A	c.(3043-3045)Gat>Aat	p.D1015N	SCN2A_uc002udd.3_Missense_Mutation_p.D1015N|SCN2A_uc002ude.3_Missense_Mutation_p.D1015N	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1015					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GAAAGGAATCGATTTTGTTAA	0.348000														51			36		0	0	0.003755	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140763674	140763674	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:140763674G>A	uc003lka.2	+	0	1208	c.1208G>A	c.(1207-1209)aGa>aAa	p.R403K	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_uc003ljz.1_Missense_Mutation_p.R403K	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	405	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTATTATAGATTGGTCACA	0.398000														1			3		0	0	0.004672	0	0
CACNA1B	774	broad.mit.edu	37	9	140953602	140953602	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:140953602C>T	uc004cog.3	+	29	4690	c.4545C>T	c.(4543-4545)tcC>tcT	p.S1515S	CACNA1B_uc022bqn.1_Silent_p.S1515S|CACNA1B_uc011mfd.2_Silent_p.S1116S|CACNA1B_uc004coi.3_Silent_p.S729S	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1515					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCATGTTCTCCATGGAATGCG	0.502000														11			19		0	0	0.003954	0	0
LPPR3	79948	broad.mit.edu	37	19	814684	814684	+	Missense_Mutation	SNP	G	A	A	rs143962053	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:814684G>A	uc002lpw.1	-	5	729	c.665C>T	c.(664-666)cCg>cTg	p.P222L	LPPR3_uc021ulz.1_5'Flank|LPPR3_uc002lpx.1_Intron|LPPR3_uc002lpy.1_Intron	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 3 (LPPR3), mRNA.	219						integral to membrane	phosphatidate phosphatase activity										GTGAGGGGCCGGACTCACCGA	0.662000														24			9		0	0	0.008291	0	0
APOB	338	broad.mit.edu	37	2	21234337	21234337	+	Silent	SNP	C	T	T	rs149787297		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:21234337C>T	uc002red.3	-	25	5531	c.5403G>A	c.(5401-5403)ctG>ctA	p.L1801L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1801					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.L1801L(2)		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)	CATTGTATTTCAGGTCACTGT	0.403000														527			142		0	0	0.003610	0	0
SYT4	6860	broad.mit.edu	37	18	40850576	40850576	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr18:40850576C>T	uc002law.3	-	3	1377	c.1008G>A	c.(1006-1008)aaG>aaA	p.K336K	SYT4_uc010dng.3_Non-coding_Transcript|SYT4_uc010xcm.2_Silent_p.K318K	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	336	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TGGAGATTCTCTTTTTGGCAT	0.428000														45			14		0	0	0.002450	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125879750	125879750	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:125879750C>T	uc003eim.1	-	1	263	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Missense_Mutation_p.E25K|ALDH1L1_uc010hsf.1_5'UTR|ALDH1L1_uc003eip.1_5'Flank|ALDH1L1_uc011bkj.1_5'UTR	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	25	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCCACCACTTCGTGGCCCTCC	0.587000														54			25		0	0	0.005443	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136321	40136321	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:40136321G>A	uc021qgf.1	-	0	1522	c.1522C>T	c.(1522-1524)Cca>Tca	p.P508S	LRRC4C_uc001mxc.1_Missense_Mutation_p.P504S|LRRC4C_uc001mxd.1_Missense_Mutation_p.P504S|LRRC4C_uc001mxa.1_Missense_Mutation_p.P508S|LRRC4C_uc001mxb.1_Missense_Mutation_p.P504S	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	508					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCAGTCACTGGGATGGTGAAG	0.502000														50			15		0	0	0.004990	0	0
TEX15	56154	broad.mit.edu	37	8	30706067	30706067	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:30706067G>A	uc003xil.3	-	0	467	c.467C>T	c.(466-468)tCc>tTc	p.S156F		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	156										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATTGGGAAGGAAAAATTACC	0.458000														37			18		0	0	0.004990	0	0
NUAK2	81788	broad.mit.edu	37	1	205273195	205273195	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:205273195C>T	uc001hce.3	-	6	1397	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	424					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGAGGGTCCTCCTGTACCCCT	0.627000														44			30		0	0	0.002096	0	0
MAML3	55534	broad.mit.edu	37	4	140641356	140641356	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr4:140641356C>T	uc021xsg.1	-	4	3290	c.2538G>A	c.(2536-2538)acG>acA	p.T846T	MGST2_uc021xsf.1_Intron|MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Silent_p.T309T	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	842	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CGGTGGCCATCGTCCCAGGGT	0.597000														80			63		0	0	0.003610	0	0
C1orf173	127254	broad.mit.edu	37	1	75039122	75039122	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:75039122C>T	uc001dgg.3	-	13	2491	c.2272G>A	c.(2272-2274)Gaa>Aaa	p.E758K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	758	Glu-rich.									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						TGCTGGGATTCCTTGTTTGAG	0.408000														40			27		0	0	0.009535	0	0
LRRC56	115399	broad.mit.edu	37	11	552096	552096	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr11:552096G>A	uc010qvz.2	+	11	1550	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.	349										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGGCCAGGGAGCCCCCCGA	0.657000														71			11		0	0	0.001855	0	0
CNGA3	1261	broad.mit.edu	37	2	98996729	98996729	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:98996729C>T	uc010fij.3	+	3	460	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	CNGA3_uc002syt.3_Missense_Mutation_p.R103C|CNGA3_uc002syu.3_Missense_Mutation_p.R103C			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	103					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TGATCGTTTCCGTGGAGCCGA	0.597000														31			20		0	0	0.010504	0	0
FBN2	2201	broad.mit.edu	37	5	127855039	127855039	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr5:127855039C>T	uc003kuu.3	-	4	994	c.555G>A	c.(553-555)caG>caA	p.Q185Q	FBN2_uc003kuv.2_Silent_p.Q152Q|FBN2_uc003kuw.4_Silent_p.Q185Q	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	185	EGF-like 3.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTCCACCATTCTGACATCCAT	0.433000														17			10		0	0	0.000978	0	0
PTK2B	2185	broad.mit.edu	37	8	27315813	27315813	+	Silent	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:27315813C>T	uc003xfn.2	+	35	3625	c.2817C>T	c.(2815-2817)atC>atT	p.I939I	PTK2B_uc022ate.1_Silent_p.I939I|PTK2B_uc003xfp.2_Silent_p.I939I|PTK2B_uc003xfq.2_Silent_p.I897I	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	939	Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	p.E938K(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TCCTACAGATCGAGGGCACCC	0.557000														18			7		0	0	0.004482	0	0
GATA4	2626	broad.mit.edu	37	8	11606581	11606581	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr8:11606581C>T	uc011kxc.1	+	1	1230	c.773C>T	c.(772-774)cCt>cTt	p.P258L	GATA4_uc003wub.1_Missense_Mutation_p.P51L|GATA4_uc003wuc.2_Missense_Mutation_p.P257L	NM_002052	NP_002043	P43694	GATA4_HUMAN	Homo sapiens GATA binding protein 4 (GATA4), mRNA.	257					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CTCATCAAGCCTCAGCGCCGG	0.617000														20			15		0	0	0.002450	0	0
CHST15	51363	broad.mit.edu	37	10	125805315	125805315	+	Silent	SNP	G	A	A	rs41297147	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr10:125805315G>A	uc001lhn.3	-	1	1148	c.414C>T	c.(412-414)tcC>tcT	p.S138S	CHST15_uc001lhm.3_Silent_p.S138S|CHST15_uc010que.2_Silent_p.S138S|CHST15_uc001lho.3_Silent_p.S138S	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	138					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TATTTACAGAGGATTGGTGGT	0.438000														98			28		0	0	0.002096	0	0
ZCCHC18	644353	broad.mit.edu	37	X	103359773	103359773	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:103359773G>C	uc011msh.2	+	2	2287	c.971G>C	c.(970-972)aGt>aCt	p.S324T	SLC25A53_uc004elu.3_Intron|ZCCHC18_uc011msg.2_Intron	NM_001143978	NP_001137450	P0CG32	ZCC18_HUMAN	Homo sapiens zinc finger, CCHC domain containing 18 (ZCCHC18), transcript variant 1, mRNA.	324							nucleic acid binding|zinc ion binding										CTTTCTACCAGTGGTGGTTCT	0.517000														0			2		0	0	0.004672	0	0
PTPRF	5792	broad.mit.edu	37	1	44069540	44069542	+	In_Frame_Del	DEL	AGG	-	-			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:44069540_44069542delAGG	uc001cjr.3	+	15	3057_3059	c.2717_2719delAGG	c.(2716-2721)aaggag>aag	p.E907del	PTPRF_uc001cjs.3_In_Frame_Del_p.E898del|PTPRF_uc001cju.3_Intron|PTPRF_uc009vwt.3_In_Frame_Del_p.E467del|PTPRF_uc001cjv.3_In_Frame_Del_p.E367del|PTPRF_uc001cjw.3_In_Frame_Del_p.E133del	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	907	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGTTCGAGAAGGAGATCAGGAC	0.616													---	58	---	---	16	---					
KCNN3	3782	broad.mit.edu	37	1	154842331	154842333	+	In_Frame_Del	DEL	TGC	-	-			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:154842331_154842333delTGC	uc021pah.1	-	0	422_424	c.108_110delGCA	c.(106-111)cagcaa>caa	p.36_37QQ>Q	KCNN3_uc001ffp.3_In_Frame_Del_p.36_37QQ>Q|KCNN3_uc009wox.1_In_Frame_Del_p.36_37QQ>Q	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	36	Poly-Gln.					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			ctgctgctgttgctgctgctgct	0.670													---	4	---	---	2	---					
RALGPS2	55103	broad.mit.edu	37	1	178846645	178846646	+	In_Frame_Ins	INS	-	AGATAT	AGATAT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:178846645_178846646insAGATAT	uc001glz.3	+	8	958_959	c.620_621insAGATAT	c.(619-621)tca>tcAGATATa	p.207_208insDI	RALGPS2_uc001gly.1_In_Frame_Ins_p.207_208insDI|RALGPS2_uc010pnb.2_In_Frame_Ins_p.207_208insDI	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 2 (RALGPS2), mRNA.	207	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ATCTATTTGTCAGATTTAACAT	0.337													---	30	---	---	9	---					
CFH	3075	broad.mit.edu	37	1	196706058	196706059	+	Frame_Shift_Ins	INS	-	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr1:196706058_196706059insA	uc001gtj.4	+	15	2758_2759	c.2518_2519insA	c.(2518-2520)caafs	p.Q840fs	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	840	Sushi 14.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGTTCTTTGCCAAGAAAATTAT	0.371													---	29	---	---	11	---					
TANC1	85461	broad.mit.edu	37	2	160035379	160035381	+	In_Frame_Del	DEL	CTT	-	-			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr2:160035379_160035381delCTT	uc002uag.3	+	13	2489_2491	c.2215_2217delCTT	c.(2215-2217)cttdel	p.L739del	TANC1_uc010fol.1_In_Frame_Del_p.L633del|TANC1_uc010zcm.2_In_Frame_Del_p.L731del|TANC1_uc010fom.1_In_Frame_Del_p.L545del	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	739						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCTCTATTTGCTTCAGTGCAACA	0.552													---	145	---	---	65	---					
POU1F1	5449	broad.mit.edu	37	3	87313522	87313522	+	Frame_Shift_Del	DEL	C	-	-			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr3:87313522delC	uc010hoj.1	-	2	558	c.433delG	c.(433-435)gaafs	p.E145fs	POU1F1_uc003dqq.1_Frame_Shift_Del_p.E119fs	NM_001122757	NP_001116229	P28069	PIT1_HUMAN	Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA.	119	POU-specific.				negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		ATTGGCTCTTCCACCAATTTA	0.418													---	97	---	---	43	---					
IARS	3376	broad.mit.edu	37	9	95050130	95050130	+	Frame_Shift_Del	DEL	A	-	-			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr9:95050130delA	uc004art.1	-	3	596	c.339delT	c.(337-339)attfs	p.I113fs	IARS_uc004ars.1_5'UTR|IARS_uc004aru.3_Frame_Shift_Del_p.I113fs|IARS_uc010mqr.2_Frame_Shift_Del_p.I3fs|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	113					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TATACTCTGTAATCCCCATTT	0.403													---	34	---	---	15	---					
HOXC9	3225	broad.mit.edu	37	12	54394446	54394447	+	Frame_Shift_Ins	INS	-	T	T			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:54394446_54394447insT	uc001seq.3	+	0	570_571	c.474_475insT	c.(472-477)ccctcgfs	p.P158fs		NM_006897	NP_008828	P31274	HXC9_HUMAN	Homo sapiens homeobox C9 (HOXC9), mRNA.	158					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						AGACACTGCCCTCGCCCGAGGC	0.708													---	4	---	---	8	---					
TMEM132D	121256	broad.mit.edu	37	12	129559393	129559394	+	Frame_Shift_Ins	INS	-	A	A			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr12:129559393_129559394insA	uc009zyl.1	-	8	2654_2655	c.2326_2327insT	c.(2326-2328)tccfs	p.S776fs	TMEM132D_uc001uia.2_Frame_Shift_Ins_p.S314fs	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	776						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTTCTGGCAGGATTCACTAATA	0.475													---	33	---	---	55	---					
ACADVL	37	broad.mit.edu	37	17	7126487	7126488	+	Frame_Shift_Ins	INS	-	A	A	rs145701525		TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr17:7126487_7126488insA	uc002gev.3	+	10	1264_1265	c.1113_1114insA	c.(1111-1116)gagaaafs	p.E371fs	ACADVL_uc010vtp.2_Frame_Shift_Ins_p.E381fs|ACADVL_uc010vtq.1_3'UTR|ACADVL_uc002gew.3_Frame_Shift_Ins_p.E349fs|ACADVL_uc002gex.3_Frame_Shift_Ins_p.E295fs	NM_000018	NP_000009	P49748	ACADV_HUMAN	Homo sapiens acyl-CoA dehydrogenase, very long chain (ACADVL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	371	Catalytic.				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						AGTTTGGGGAGAAAATTCACAA	0.554													---	78	---	---	74	---					
ZNF790	388536	broad.mit.edu	37	19	37309781	37309782	+	Frame_Shift_Ins	INS	-	A	A	rs79499850	byFrequency	TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:37309781_37309782insA	uc021utk.1	-	4	1893_1894	c.1464_1465insT	c.(1462-1467)tttcgtfs	p.F488fs	LOC284408_uc021utj.1_Intron|LOC284408_uc002oev.2_Intron|ZNF790_uc002oew.3_Frame_Shift_Ins_p.F488fs|ZNF790_uc021utl.1_Frame_Shift_Ins_p.F488fs|ZNF790_uc021utm.1_Frame_Shift_Ins_p.F488fs	NM_001242802	NP_001229731	Q6PG37	ZN790_HUMAN	Homo sapiens zinc finger protein 790 (ZNF790), transcript variant 4, mRNA.	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCTGAACCACGAAAAAAGGTCT	0.391													---	56	---	---	17	---					
NUMBL	9253	broad.mit.edu	37	19	41173866	41173868	+	In_Frame_Del	DEL	TGC	-	-			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:41173866_41173868delTGC	uc002oon.3	-	9	1503_1505	c.1335_1337delGCA	c.(1333-1338)cagcaa>caa	p.445_446QQ>Q	NUMBL_uc010xvq.2_In_Frame_Del_p.404_405QQ>Q|NUMBL_uc010xvr.2_In_Frame_Del_p.404_405QQ>Q|NUMBL_uc002ooo.3_In_Frame_Del_p.444_445QQ>Q	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA.	445	Poly-Gln.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			TGAGgctgcttgctgctgttgct	0.670													---	5	---	---	3	---					
IRF3	3661	broad.mit.edu	37	19	50165513	50165513	+	Frame_Shift_Del	DEL	C	-	-			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr19:50165513delC	uc002poy.2	-	4	1693	c.674delG	c.(673-675)ggcfs	p.G225fs	IRF3_uc021uxp.1_Frame_Shift_Del_p.G79fs|IRF3_uc021uxq.1_Frame_Shift_Del_p.G79fs|IRF3_uc002pot.2_Intron|IRF3_uc021uxr.1_Intron|IRF3_uc021uxs.1_Intron|IRF3_uc002pow.3_Frame_Shift_Del_p.G225fs|IRF3_uc021uxo.1_Frame_Shift_Del_p.G190fs|IRF3_uc002pou.3_Frame_Shift_Del_p.G225fs|IRF3_uc010end.2_Frame_Shift_Del_p.G225fs|IRF3_uc002poz.1_Frame_Shift_Del_p.G225fs|BCL2L12_uc002ppa.3_5'Flank|BCL2L12_uc002ppb.3_5'Flank	NM_001197126	NP_001184055	Q14653	IRF3_HUMAN	Homo sapiens interferon regulatory factor 3 (IRF3), transcript variant 6, mRNA.	225	Involved in HERC5 binding.				MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CAGCCGCAGGCCCTCCGGGCA	0.652													---	61	---	---	22	---					
PPP1R3D	5509	broad.mit.edu	37	20	58514976	58514976	+	Frame_Shift_Del	DEL	C	-	-			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chr20:58514976delC	uc002ybb.3	-	0	377	c.11delG	c.(10-12)ggcfs	p.G4fs	FAM217B_uc002yba.3_Intron|FAM217B_uc002ybc.3_5'Flank|FAM217B_uc010zzx.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3D (PPP1R3D), mRNA.	4					glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			GGAGCTCGGGCCTCTGGACAT	0.721													---	4	---	---	2	---					
ARSF	416	broad.mit.edu	37	X	3002534	3002535	+	Frame_Shift_Ins	INS	-	TTTT	TTTT			TCGA-GN-A266-06A-11D-A197-08	TCGA-GN-A266-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04aa6b77-8074-480c-872e-a1a47afa5314	9ff91018-9d55-43be-9ae3-945caecb0cbb	g.chrX:3002534_3002535insTTTT	uc022brz.1	+	5	793_794	c.657_658insTTTT	c.(655-660)atcttcfs	p.I219fs	ARSF_uc004cre.2_Frame_Shift_Ins_p.I219fs|ARSF_uc004crf.2_Frame_Shift_Ins_p.I219fs	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	219						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				GGCTCCTGATCTTCTCCATGAT	0.545													---	34	---	---	23	---