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
TAS2R3	50831	broad.mit.edu	37	7	141464375	141464375	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:141464375C>T	uc003vwp.1	+	0	479	c.417C>T	c.(415-417)ctC>ctT	p.L139L		NM_016943	NP_058639	Q9NYW6	TA2R3_HUMAN	Homo sapiens taste receptor, type 2, member 3 (TAS2R3), mRNA.	139					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					GTGCACTGCTCTTATCCTGTG	0.473000														99			44		0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71443822	71443822	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:71443822C>T	uc001xmo.2	+	5	1214	c.768C>T	c.(766-768)tcC>tcT	p.S256S	PCNX_uc001xmn.4_Silent_p.S256S|PCNX_uc010are.1_Silent_p.S256S	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	256						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGTCTCTGTCCAGCGCCTGTG	0.502000														54			24		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169300898	169300898	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:169300898G>A	uc021xuh.1	-	29	4310	c.4200C>T	c.(4198-4200)tcC>tcT	p.S1400S	DDX60L_uc003irq.4_Silent_p.S1400S	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1400							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GGAGCTGCAAGGAAAACAAAA	0.368000														39			7		0	0	1	0	0
ZNF384	171017	broad.mit.edu	37	12	6782498	6782498	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:6782498G>A	uc010sfh.2	-	6	1065	c.795C>T	c.(793-795)ttC>ttT	p.F265F	ZNF384_uc001qqa.3_Silent_p.F265F|ZNF384_uc001qqd.3_Silent_p.F210F|ZNF384_uc009zew.1_Silent_p.F151F	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	Homo sapiens zinc finger protein 384 (ZNF384), transcript variant 7, mRNA.	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						AGCTGTTGGCGAAGGTCTTGG	0.547000			T	"""EWSR1, TAF15 """	ALL									85			26		0	0	1	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767837	143767837	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:143767837G>A	uc001ejt.3	-	0	45	c.12C>T	c.(10-12)tcC>tcT	p.S4S		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	4					protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						AAAAGATGACGGAGTTGACCA	0.473000														208			15		0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76371863	76371863	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:76371863G>A	uc001oxq.4	-	2	1017	c.774C>T	c.(772-774)ttC>ttT	p.F258F	LRRC32_uc001oxr.4_Silent_p.F258F|LRRC32_uc010rsf.2_Silent_p.F258F	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	258						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CCAGGTCGGGGAAATGGAGCA	0.622000														75			52		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41004463	41004463	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:41004463C>T	uc003jmj.4	-	36	4669	c.4179G>A	c.(4177-4179)agG>agA	p.R1393R	HEATR7B2_uc003jmi.4_Silent_p.R948R	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1393							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						CAAAGAAGGTCCTTGTTTGCA	0.448000														111			41		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702150	181702150	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:181702150G>A	uc009wxt.3	+	19	3123	c.2928G>A	c.(2926-2928)gaG>gaA	p.E976E	CACNA1E_uc001gow.3_Silent_p.E976E|CACNA1E_uc009wxs.3_Silent_p.E957E|CACNA1E_uc001gox.1_Silent_p.E202E	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	976					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						TCCAAGAAGAGAGAGCCCAGG	0.552000														56			14		0	0	1	0	0
IP6K3	117283	broad.mit.edu	37	6	33694681	33694681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:33694681G>A	uc010jvf.2	-	4	952	c.416C>T	c.(415-417)cCg>cTg	p.P139L	IP6K3_uc003ofb.2_Missense_Mutation_p.P139L	NM_001142883	NP_473452	Q96PC2	IP6K3_HUMAN	Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA.	139					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						AGCCTTGGCCGGGCTGCGGCG	0.627000														136			54		0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157789804	157789804	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:157789804C>T	uc001frg.3	-	0	137	c.24G>A	c.(22-24)ttG>ttA	p.L8L	FCRL1_uc001frh.3_Silent_p.L8L|FCRL1_uc001fri.3_Silent_p.L8L|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	8						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)			CACCACAGATCAACAGCAACA	0.527000														86			21		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121001168	121001168	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:121001168C>T	uc003eec.4	+	19	2306	c.2166C>T	c.(2164-2166)atC>atT	p.I722I	STXBP5L_uc011bji.2_Intron	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	722					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)		CGAAACGGATCCGTACTTCCT	0.403000														35			9		0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135439	156135439	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:156135439G>A	uc003ioq.3	+	1	837	c.348G>A	c.(346-348)tgG>tgA	p.W116*	NPY2R_uc003ior.3_Nonsense_Mutation_p.W116*|NPY2R_uc021xtm.1_Nonsense_Mutation_p.W116*	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	116					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TGGGGGAGTGGAAAATGGGTC	0.507000														37			24		0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151671651	151671651	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:151671651G>A	uc011eep.2	+	3	2365	c.2125G>A	c.(2125-2127)Gga>Aga	p.G709R	AKAP12_uc003qoe.3_Missense_Mutation_p.G709R|AKAP12_uc003qof.3_Missense_Mutation_p.G611R|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Missense_Mutation_p.G604R	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	709					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGCAATGGGAGGAGACCACCA	0.512000														88			49		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83180405	83180405	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:83180405G>A	uc001paj.2	-	19	2446	c.2143C>T	c.(2143-2145)Cca>Tca	p.P715S	DLG2_uc001pai.2_Missense_Mutation_p.P594S|DLG2_uc010rsy.1_Missense_Mutation_p.P664S|DLG2_uc021qof.1_Missense_Mutation_p.P754S|DLG2_uc010rsz.1_Missense_Mutation_p.P711S|DLG2_uc010rta.1_Missense_Mutation_p.P697S|DLG2_uc001pak.2_Missense_Mutation_p.P820S|DLG2_uc010rtb.1_Missense_Mutation_p.P682S|DLG2_uc010rsx.1_Missense_Mutation_p.P192S|DLG2_uc010rsw.1_Missense_Mutation_p.P179S	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	715	Guanylate kinase-like.					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)				TCTCGCTTTGGCCTCGTAGTA	0.378000														34			26		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675887	62675887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:62675887G>A	uc021ooc.1	+	4	1876	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	L1TD1_uc001dae.4_Missense_Mutation_p.E481K	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	481	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						ATCAGAGGAGGAAGAAGAAGG	0.403000														61			24		0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	155005177	155005177	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:155005177G>A	uc001fgm.3	-	2	587	c.507C>T	c.(505-507)ttC>ttT	p.F169F	DCST2_uc009wpb.3_Non-coding_Transcript|DCST1_uc010per.2_5'Flank|DCST1_uc001fgn.2_5'Flank|DCST1_uc010pes.2_5'Flank	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	169						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTGACCGAAAGAACTTGCGGA	0.542000														188			46		0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236212240	236212240	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:236212240G>A	uc001hxo.3	-	1	377	c.275C>T	c.(274-276)tCc>tTc	p.S92F	NID1_uc009xgd.3_Missense_Mutation_p.S92F	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	92					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CCCGGGATGGGATTCTTTGGC	0.532000														127			40		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13692205	13692205	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13692205T>C	uc003jfd.2	-	78	13805	c.13763A>G	c.(13762-13764)aAg>aGg	p.K4588R	DNAH5_uc003jfc.2_Missense_Mutation_p.K756R	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4588					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)					AACTGGCTTCTTATAGATGGG	0.473000									Kartagener syndrome					47			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599176	179599176	+	Silent	SNP	A	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179599176A>C	uc021vsy.1	-	48	11868	c.11643T>G	c.(11641-11643)tcT>tcG	p.S3881S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.S542S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4808							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)			GAGACTTCTGAGAAAACAATC	0.388000														86			32		0	0	1	0	0
WASH7P	653635	broad.mit.edu	37	1	14976	14976	+	RNA	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:14976G>A	uc009vis.3	-	2		c.369C>T			WASH7P_uc009vit.3_Non-coding_Transcript|WASH7P_uc009viu.3_Non-coding_Transcript|WASH7P_uc001aae.4_Non-coding_Transcript|WASH7P_uc001aah.4_Non-coding_Transcript|WASH7P_uc009vir.3_Non-coding_Transcript|WASH7P_uc009viq.3_Intron|WASH7P_uc001aac.4_Non-coding_Transcript|WASH7P_uc009viv.2_Non-coding_Transcript|WASH7P_uc009viw.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 7 pseudogene (WASH7P), non-coding RNA.																		CTACCCTTGCGCCTCATGACC	0.582000														15			4		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2088741	2088741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:2088741G>A	uc003wpx.4	+	32	4034	c.3896G>A	c.(3895-3897)gGa>gAa	p.G1299E	MYOM2_uc011kwi.2_Missense_Mutation_p.G724E	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1299					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)		AAGGATAAAGGAAAATACACT	0.428000														122			19		0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4216338	4216338	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:4216338C>T	uc010dtt.1	+	16	1604	c.1328C>T	c.(1327-1329)tCg>tTg	p.S443L	ANKRD24_uc002lzs.2_Missense_Mutation_p.S414L|ANKRD24_uc002lzt.2_Missense_Mutation_p.S415L	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	443										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)		CACCTGGCCTCGCTGCAGGAA	0.632000														7			5		0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726757	63726757	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:63726757T>A	uc003tsx.3	+	4	1015	c.746T>A	c.(745-747)tTt>tAt	p.F249Y		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	249					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						GGCAAAGCTTTTACCTGGTCC	0.433000														32			5		0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170219102	170219102	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:170219102G>A	uc003fgz.2	-	2	653	c.337C>T	c.(337-339)Ccc>Tcc	p.P113S	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	113						integral to membrane	amino acid transmembrane transporter activity	p.V112V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GTGGTCTTGGGGACTCGAACT	0.507000														51			28		0	0	1	0	0
ZNF268	10795	broad.mit.edu	37	12	133779124	133779124	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:133779124C>T	uc010tch.2	+	5	1058	c.852C>T	c.(850-852)gcC>gcT	p.A284A	ZNF268_uc010tbv.1_Silent_p.A123A|ZNF268_uc010tbz.1_Silent_p.A123A|ZNF268_uc010tcc.1_Silent_p.A123A|ZNF268_uc010tcd.1_Silent_p.A123A|ZNF268_uc010tbx.2_3'UTR|ZNF268_uc010tbw.2_3'UTR|ZNF268_uc010tce.2_3'UTR|ZNF268_uc010tcg.2_3'UTR|ZNF268_uc010tca.2_3'UTR|ZNF268_uc010tcf.2_Silent_p.A284A|ZNF268_uc010tcb.2_3'UTR|ZNF268_uc021rgu.1_Silent_p.A201A	NM_001165881	NP_001159354	Q14587	ZN268_HUMAN	Homo sapiens zinc finger protein 268 (ZNF268), transcript variant 2, mRNA.	284						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GTGAGAAAGCCTTCAGCAGCA	0.408000														13			4		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046874	73046874	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:73046874C>T	uc004ebn.2	+	0		c.34835C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		GGAACATGGGCTTTCCATCTT	0.488000														46			36		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130159348	130159348	+	Missense_Mutation	SNP	G	A	A	rs113660207		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:130159348G>A	uc010htj.1	+	34	6660	c.6166G>A	c.(6166-6168)Gca>Aca	p.A2056T	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.A95T|COL6A5_uc010htk.1_Missense_Mutation_p.A95T	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2056	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						AAATGGAGAAGCAACAATTGG	0.413000														49			40		0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119003739	119003739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:119003739G>A	uc001ldd.2	+	2	542	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	SLC18A2_uc009xyy.2_5'UTR	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	127					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCTCCTGAATGAAAACGTGCA	0.527000														52			31		0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180420152	180420152	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:180420152G>A	uc003mmr.3	+	1	573	c.389G>A	c.(388-390)cGg>cAg	p.R130Q		NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	130					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)			TGGGAGCTGCGGGTGGCAGGT	0.443000														9			4		0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39159357	39159357	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:39159357G>A	uc003oon.3	-	4	1173	c.809C>T	c.(808-810)tCc>tTc	p.S270F		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	270					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GGAGTGTGGGGAGCTCTCAAA	0.547000														233			96		0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46876046	46876046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:46876046C>T	uc002zhi.3	+	0	623	c.602C>T	c.(601-603)cCc>cTc	p.P201L	COL18A1_uc002zhg.3_Intron	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	441					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)		CTGGGCAGGCCCTGGGCACCA	0.692000														100			23		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646651	57646651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:57646651C>T	uc002qnz.1	-	4	1440	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D352N(4)		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)		TTCTCATGATCGATGACATTG	0.383000														114			83		0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58559989	58559989	+	Silent	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:58559989A>G	uc002env.3	-	44	6800	c.6507T>C	c.(6505-6507)acT>acC	p.T2169T	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Silent_p.T2164T|CNOT1_uc002ent.3_Silent_p.T107T|CNOT1_uc010vik.2_Silent_p.T1126T	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	2169					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCATTACTCCAGTGAAATTGG	0.408000														97			47		0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28331843	28331843	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:28331843C>T	uc002dpd.3	+	3	1665	c.876C>T	c.(874-876)ttC>ttT	p.F292F		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA.	292	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						TGCGCATGTTCCAGCGCTTAC	0.726000														15			5		0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109031453	109031453	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:109031453C>T	uc003dxo.3	-	2	367	c.120G>A	c.(118-120)atG>atA	p.M40I		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	40						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGCTTGGTTCCATTTGTTCCA	0.413000														182			140		0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36547319	36547319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:36547319G>A	uc003cgh.1	+	7	952	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	STAC_uc010hgd.1_Non-coding_Transcript|STAC_uc011aya.1_Missense_Mutation_p.E244K	NM_003149	NP_003140	Q99469	STAC_HUMAN	Homo sapiens SH3 and cysteine rich domain (STAC), mRNA.	305	SH3.				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						TGAAGATTTGGAAATGAGGTA	0.348000														22			25		0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	114004339	114004339	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:114004339G>A	uc010yxt.2	-	2	349	c.183C>T	c.(181-183)atC>atT	p.I61I	PAX8_uc010yxu.2_Silent_p.I61I|PAX8_uc002tjm.3_Silent_p.I61I|PAX8_uc002tjn.3_Silent_p.I61I|PAX8_uc010fku.1_Silent_p.I61I|LOC654433_uc002tjq.4_Intron|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	61	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						ACCTGCCAAGGATCTTGCTGA	0.622000			T	PPARG	follicular thyroid		Thyroid dysgenesis							119			41		0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178879164	178879164	+	Silent	SNP	G	A	A	rs144284382		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:178879164G>A	uc002ulq.3	-	1	1254	c.936C>T	c.(934-936)atC>atT	p.I312I	PDE11A_uc002ulr.3_Silent_p.I62I|PDE11A_uc002ult.1_Silent_p.I62I	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	312	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.I312I(2)|p.I62I(1)		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)			TTAGCTTGTCGATTTCATCAT	0.393000									Primary Pigmented Nodular Adrenocortical Disease, Familial					31			13		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195517402	195517402	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:195517402G>A	uc021xjp.1	-	1	1205	c.1049C>T	c.(1048-1050)tCa>tTa	p.S350L	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.S232L	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	355					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)		TAAAACAGTTGATGTTGTAAC	0.478000														409			103		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6172243	6172243	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:6172243C>T	uc001amb.2	-	34	5208	c.5097G>A	c.(5095-5097)ggG>ggA	p.G1699G	CHD5_uc001alz.2_Silent_p.G556G|CHD5_uc001ama.2_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1699					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)		ACTTGAATTTCCCCTTCTTGT	0.547000														149			48		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779826	36779826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:36779826G>A	uc003cgi.2	-	1	816	c.325C>T	c.(325-327)Ccc>Tcc	p.P109S		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	109						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.P108L(1)		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						GCTTCCCTGGGGGGCTTGCTA	0.567000														225			202		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12364674	12364674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:12364674C>T	uc001atv.3	+	25	6469	c.6328C>T	c.(6328-6330)Ctt>Ttt	p.L2110F	VPS13D_uc001atw.3_Missense_Mutation_p.L2110F|VPS13D_uc001atx.3_Missense_Mutation_p.L1298F	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2110					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)		CACGATGCCTCTTGCTGGAAT	0.567000														82			30		0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50220954	50220954	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:50220954G>A	uc003cyj.3	+	11	1388	c.1190G>A	c.(1189-1191)tGg>tAg	p.W397*	SEMA3F_uc003cyk.3_Nonsense_Mutation_p.W366*	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	397	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		AACTACCAGTGGATGCCCTTC	0.592000														117			29		0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38357869	38357869	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:38357869C>T	uc003cib.2	+	8	1660	c.1587C>T	c.(1585-1587)tcC>tcT	p.S529S	SLC22A14_uc010hhc.1_Silent_p.S529S|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	529						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)		CCATCTTGTCCCTGACAATCA	0.622000														143			36		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908087	164908087	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:164908087G>A	uc003fej.4	-	1	976	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	SLITRK3_uc003fek.3_Silent_p.L178L|SLITRK3_uc021xgy.1_Silent_p.L178L	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	178						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						TTTAAAATCAGAACCCTCAAT	0.388000										HNSCC(40;0.11)				90			69		0	0	1	0	0
OR51B6	390058	broad.mit.edu	37	11	5373596	5373596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:5373596C>T	uc010qzb.2	+	0	859	c.859C>T	c.(859-861)Cca>Tca	p.P287S	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.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287P(1)		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)		TTTTATGAACCCATTTATCTA	0.393000														111			16		0	0	1	0	0
ANP32C	23520	broad.mit.edu	37	4	165118227	165118227	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:165118227C>T	uc011cjk.2	-	0	637	c.637G>A	c.(637-639)Gga>Aga	p.G213R	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	213	Asp/Glu-rich (highly acidic).							p.D212G(1)		NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		tctacctctccatcgttataa	0.507000														24			5		0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216508	111216508	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:111216508G>A	uc001dzv.1	-	0	1148	c.924C>T	c.(922-924)ttC>ttT	p.F308F		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	308						voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.F308F(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAGCAGTTCGAAGGAGAACC	0.547000														227			45		0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116447276	116447276	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:116447276C>T	uc002tle.3	+	5	488	c.467C>T	c.(466-468)tCg>tTg	p.S156L	DPP10_uc002tla.2_Missense_Mutation_p.S152L|DPP10_uc002tlb.2_Missense_Mutation_p.S102L|DPP10_uc002tlc.2_Missense_Mutation_p.S148L|DPP10_uc002tlf.2_Missense_Mutation_p.S145L	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	152					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.S145L(2)|p.S152L(2)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTCATTATTCGTATACTGCT	0.264000														11			7		0	0	1	0	0
PRKCI	5584	broad.mit.edu	37	3	169999701	169999701	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:169999701G>A	uc003fgs.2	+	10	1250	c.1012G>A	c.(1012-1014)Gga>Aga	p.G338R		NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	338	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)			TGTAAATGGAGGAGACCTAAT	0.358000														172			121		0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94538029	94538029	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:94538029G>A	uc004arj.2	-	1	368	c.169C>T	c.(169-171)Ctg>Ttg	p.L57L	ROR2_uc004ari.1_5'UTR|ROR2_uc004ark.3_Silent_p.L57L	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	57	Ig-like C2-type.				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						TCACCTTTCAGAGTTGGAATC	0.552000											OREG0019308	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			17		0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185155255	185155255	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:185155255G>A	uc010hyf.3	+	3	787	c.496G>A	c.(496-498)Gag>Aag	p.E166K	MAP3K13_uc011brt.2_Intron|MAP3K13_uc003fph.4_5'UTR|MAP3K13_uc011bru.2_Missense_Mutation_p.E22K|MAP3K13_uc003fpi.3_Missense_Mutation_p.E166K|MAP3K13_uc010hyg.3_Intron	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	166					JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AGTGCCATTTGAGGAGATCTC	0.512000														120			83		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955789	18955789	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:18955789G>A	uc001mpg.3	-	0	761	c.543C>T	c.(541-543)gtC>gtT	p.V181V		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	181					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCAGCCACGCGACTGTGATGA	0.527000														122			20		0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78710221	78710221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:78710221C>T	uc003dqe.2	-	15	2487	c.2279G>A	c.(2278-2280)gGa>gAa	p.G760E	ROBO1_uc003dqc.2_Missense_Mutation_p.G724E|ROBO1_uc003dqd.2_Missense_Mutation_p.G724E|ROBO1_uc003dqb.2_Missense_Mutation_p.G721E|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc011bgl.1_Missense_Mutation_p.G332E|ROBO1_uc003dqf.1_Missense_Mutation_p.G439E	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	760	Fibronectin type-III 2.				Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ACTATCTGCTCCTTGAAATTC	0.388000														16			10		0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813822	100813822	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:100813822C>T	uc010svi.2	+	11	1968	c.1655C>T	c.(1654-1656)tCc>tTc	p.S552F	SLC17A8_uc009ztx.3_Missense_Mutation_p.S502F	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	552					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GGAGCCACCTCCCAGAATTGT	0.453000														31			11		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137928362	137928362	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:137928362G>A	uc002tva.1	+	5	1484	c.1484G>A	c.(1483-1485)gGg>gAg	p.G495E	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.G385E	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)		GGGCCTGCAGGGCATTGCCCT	0.473000														39			11		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13727711	13727712	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13727711_13727712CC>TT	uc003jfd.2	-	69	11979_11980	c.11937_11938GG>AA	c.(11935-11940)gaggag>gaAAag	p.E3980K	DNAH5_uc003jfc.2_Missense_Mutation_p.E148K	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3980					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E3980K(2)|p.E3979*(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)					AGAGGTTCCTCCTCCGGGTTTT	0.416000									Kartagener syndrome					62			16		0	0	1	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23058222	23058222	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:23058222G>A	uc003xda.3	-	4	787	c.681C>T	c.(679-681)atC>atT	p.I227I		NM_003844	NP_003835	O00220	TR10A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA.	227					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		GGACACACTCGATGTCACTCC	0.587000														175			41		0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598433	151598433	+	Silent	SNP	C	T	T	rs145165680		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:151598433C>T	uc003ezf.2	+	2	207	c.102C>T	c.(100-102)ttC>ttT	p.F34F		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	34						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GGATTGAGTTCGTTGTGGGAG	0.423000														194			49		0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8839922	8839922	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:8839922G>A	uc002czc.4	+	2	301	c.135G>A	c.(133-135)ctG>ctA	p.L45L	ABAT_uc002czd.4_Silent_p.L45L|ABAT_uc010buh.3_Intron|ABAT_uc010bui.3_Silent_p.L45L	NM_020686	NP_065737	P80404	GABT_HUMAN	Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	45					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	ATGGGCCTCTGATGAAGACGG	0.473000														74			12		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509961	71509961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:71509961G>A	uc011caw.1	+	8	3099	c.2818G>A	c.(2818-2820)Gaa>Aaa	p.E940K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	940					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGAGAAGAGGGAAAGCCAAAA	0.458000														60			27		0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18550323	18550323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:18550323G>A	uc002kte.3	-	22	3747	c.2806C>T	c.(2806-2808)Cac>Tac	p.H936Y		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	936	Glu-rich.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTAACAGTGTGATCTTTATCT	0.368000														36			33		0	0	1	0	0
EXOSC7	23016	broad.mit.edu	37	3	45030653	45030653	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:45030653C>T	uc003coi.2	+	1	108	c.79C>T	c.(79-81)Cgt>Tgt	p.R27C	EXOSC7_uc003coh.1_5'UTR|EXOSC7_uc011bae.2_Missense_Mutation_p.R27C|EXOSC7_uc010his.1_Intron	NM_015004	NP_055819	Q15024	EXOS7_HUMAN	Homo sapiens exosome component 7 (EXOSC7), transcript variant 1, mRNA.	27					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|RNA binding|protein binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		TGTGGATGGCCGTGGCTGTGA	0.522000														88			31		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25416217	25416217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:25416217G>A	uc001upr.3	+	18	2562	c.2521G>A	c.(2521-2523)Gat>Aat	p.D841N	RNF17_uc010tdd.1_Missense_Mutation_p.D700N|RNF17_uc010tde.2_Missense_Mutation_p.D841N|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.D780N|RNF17_uc010aac.3_Missense_Mutation_p.D39N|RNF17_uc010aad.3_5'Flank	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	841					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)		TGAGCTTTTCGATTCTCTTGG	0.348000														33			18		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167083001	167083001	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:167083001C>T	uc001geb.1	+	1	181	c.165C>T	c.(163-165)caC>caT	p.H55H		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	55					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						AACCCATTCACCTCTCCTCAG	0.453000														265			135		0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43850988	43850988	+	Missense_Mutation	SNP	C	T	T	rs150189412	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:43850988C>T	uc010ggz.3	+	1	772	c.715C>T	c.(715-717)Cat>Tat	p.H239Y	SEMG2_uc002xnk.3_Missense_Mutation_p.H239Y|SEMG2_uc002xnl.3_Missense_Mutation_p.H239Y	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	239	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AACTTCACTCCATCCTGCACA	0.378000														149			71		0	0	1	0	0
FBXL16	146330	broad.mit.edu	37	16	745561	745561	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:745561C>T	uc021taa.1	-	2	1324	c.996G>A	c.(994-996)aaG>aaA	p.K332K	FBXL16_uc002cja.3_5'Flank|FBXL16_uc002cjb.3_Silent_p.K120K	NM_153350	NP_699181	Q8N461	FXL16_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 16 (FBXL16), mRNA.	332										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				CGTCGGTGACCTTGGAGCAGC	0.667000														29			5		0	0	1	0	0
CD55	1604	broad.mit.edu	37	1	207497975	207497975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:207497975C>T	uc001hfq.4	+	2	652	c.358C>T	c.(358-360)Cca>Tca	p.P120S	CD55_uc001hfr.4_Missense_Mutation_p.P120S|CD55_uc010psf.2_Intron|CD55_uc009xcf.3_Intron|CD55_uc009xce.3_Missense_Mutation_p.P120S	NM_000574	NP_000565	P08174	DAF_HUMAN	Homo sapiens CD55 molecule, decay accelerating factor for complement (Cromer blood group) (CD55), transcript variant 1, mRNA.	120	Sushi 2.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	GAATTATTTTCCAGTCGGTAC	0.408000														140			55		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113958813	113958813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:113958813G>A	uc002tjc.3	+	16	3175	c.2992G>A	c.(2992-2994)Gag>Aag	p.E998K	PSD4_uc002tjd.3_Missense_Mutation_p.E618K|PSD4_uc002tje.3_Missense_Mutation_p.E968K|PSD4_uc002tjf.3_Missense_Mutation_p.E619K|PSD4_uc002tjg.3_Missense_Mutation_p.E164K|PSD4_uc010yxs.2_Missense_Mutation_p.E228K|PSD4_uc002tjh.3_Missense_Mutation_p.E185K	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	998					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTGTGGGAGGAGCAGCTGGG	0.652000														238			111		0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134991025	134991026	+	Missense_Mutation	DNP	GC	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:134991025_134991026GC>AA	uc004ezh.3	+	12	1611_1612	c.1444_1445GC>AA	c.(1444-1446)gct>AAt	p.A482N	SAGE1_uc010nry.1_Missense_Mutation_p.A451N|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	482										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)					GTTTCCAGATGCTACCATTACT	0.431000														56			37		0	0	1	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776622	159776622	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:159776622G>A	uc003lyd.3	-	2	550	c.546C>T	c.(544-546)ctC>ctT	p.L182L		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 2 (C1QTNF2), mRNA.	137	C1q.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	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)			AGGGGCCTGGGAGGCCTGGCT	0.662000														173			111		0	0	1	0	0
C12orf77	196415	broad.mit.edu	37	12	25148891	25148891	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:25148891G>A	uc001rgf.3	-	2	462	c.257C>T	c.(256-258)cCc>cTc	p.P86L		NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN	Homo sapiens chromosome 12 open reading frame 77 (C12orf77), mRNA.	86										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						GTGGCATTCGGGGGCAGGTAC	0.517000														37			18		0	0	1	0	0
MEIS3P1	4213	broad.mit.edu	37	17	15690624	15690624	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:15690624G>C	uc002gpc.3	+	0	461	c.440G>C	c.(439-441)aGt>aCt	p.S147T						Homo sapiens Meis homeobox 3 pseudogene 1 (MEIS3P1), non-coding RNA.																		GCCTCTCCCAGTTCTGGTGGA	0.627000														23			16		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482603	140482603	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140482603G>A	uc003lio.3	+	0	2370	c.2370G>A	c.(2368-2370)agG>agA	p.R790R	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	790					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)			CCAGTTTCAGGAAGAGCTTTG	0.453000														107			42		0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111319755	111319755	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:111319755C>T	uc003dxw.3	+	7	1299	c.1129C>T	c.(1129-1131)Ctc>Ttc	p.L377F	CD96_uc003dxv.3_Missense_Mutation_p.L361F|CD96_uc003dxx.3_Missense_Mutation_p.L361F|CD96_uc010hpy.1_Missense_Mutation_p.L361F	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	377	Pro/Ser/Thr-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GATCACTTTTCTCTTAGGTGA	0.368000									Opitz Trigonocephaly syndrome					71			21		0	0	1	0	0
BCL7C	9274	broad.mit.edu	37	16	30904032	30904032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:30904032G>A	uc021tgq.1	-	3	451	c.317C>T	c.(316-318)tCc>tTc	p.S106F	BC073928_uc002dzu.3_Intron|BCL7C_uc002dzv.3_Missense_Mutation_p.S106F|MIR762_uc021tgs.1_5'Flank	NM_004765	NP_004756	Q8WUZ0	BCL7C_HUMAN	Homo sapiens B-cell CLL/lymphoma 7C (BCL7C), mRNA.	106					apoptosis			p.S106F(2)		large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			CTTTTGCAGGGAACCTTCCGA	0.627000														125			32		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64593101	64593101	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:64593101C>T	uc001xgl.3	+	71	13841	c.13611C>T	c.(13609-13611)ttC>ttT	p.F4537F	SYNE2_uc001xgm.3_Silent_p.F4537F|SYNE2_uc021ruh.1_Silent_p.F4488F|SYNE2_uc010apy.3_Silent_p.F922F|SYNE2_uc010apz.1_Silent_p.F429F	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4537					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)		TTGAACTATTCCTGACCCTCA	0.418000														46			25		0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9211730	9211730	+	Silent	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:9211730A>G	uc002knv.3	+	5	864	c.600A>G	c.(598-600)caA>caG	p.Q200Q	ANKRD12_uc010wzn.2_Silent_p.Q200Q|ANKRD12_uc002knw.3_Silent_p.Q177Q|ANKRD12_uc002knx.3_Silent_p.Q177Q	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	200						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATGTGAAACAAGTTAAAGAAT	0.343000														33			19		0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67694231	67694231	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:67694231G>A	uc002etq.4	-	0	488	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	ACD_uc002etp.4_Missense_Mutation_p.L51F|ACD_uc002etr.4_Missense_Mutation_p.L51F|ACD_uc010vjt.1_Missense_Mutation_p.L41F|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA.	51					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGCCGGAGGAGGAGGCCCCGC	0.741000														26			21		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679583	100679583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100679583G>A	uc003uxp.1	+	2	4939	c.4886G>A	c.(4885-4887)gGa>gAa	p.G1629E	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1629	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)					CCTAGTGAAGGAAGTCCTCTA	0.502000														412			152		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78804056	78804056	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:78804056G>A	uc004akc.2	+	18	2965	c.2427G>A	c.(2425-2427)atG>atA	p.M809I	PCSK5_uc004ajz.3_Missense_Mutation_p.M809I|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_Missense_Mutation_p.M83I	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	809	CRM (Cys-rich motif).				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	p.F808F(1)		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						GCTACTTCATGGAGGATGGGA	0.468000														62			14		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	31864525	31864525	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:31864525G>A	uc003tcm.2	-	12	1823	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	PDE1C_uc003tcn.1_Silent_p.I454I|PDE1C_uc003tco.2_Silent_p.I514I|PDE1C_uc003tcr.3_Silent_p.I454I|PDE1C_uc003tcs.3_Silent_p.I454I	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	454	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	p.L453I(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)			AGGTTTCATCGATTAATGGAC	0.498000														88			15		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45949744	45949744	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:45949744G>A	uc002zfe.1	-	4	793	c.727C>T	c.(727-729)Cca>Tca	p.P243S	TSPEAR_uc010gpv.1_Missense_Mutation_p.P175S	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	243					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						AGGACCCGTGGGATGGACAGC	0.637000														72			29		0	0	1	0	0
HORMAD2	150280	broad.mit.edu	37	22	30500398	30500398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:30500398G>A	uc003agy.3	+	4	331	c.266G>A	c.(265-267)gGt>gAt	p.G89D		NM_152510	NP_689723	Q8N7B1	HORM2_HUMAN	Homo sapiens HORMA domain containing 2 (HORMAD2), mRNA.	89	HORMA.				meiosis|mitosis	chromosome|nucleus				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			AGGATTCAAGGTTGTTTTGAT	0.299000														82			47		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130419851	130419851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:130419851G>A	uc004ewe.4	-	3	552	c.269C>T	c.(268-270)tCa>tTa	p.S90L	IGSF1_uc004ewd.3_Missense_Mutation_p.S90L|IGSF1_uc022cdv.1_Missense_Mutation_p.S81L|IGSF1_uc004ewf.2_Missense_Mutation_p.S70L|IGSF1_uc022cdw.1_Missense_Mutation_p.S90L|IGSF1_uc004ewg.3_Missense_Mutation_p.S90L	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	90	Ig-like C2-type 1.				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						TATAAGGAATGAAACTTGGAA	0.512000														129			78		0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38500937	38500937	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:38500937G>A	uc003tgu.3	-	10	1179	c.963C>T	c.(961-963)atC>atT	p.I321I	AMPH_uc003tgv.3_Silent_p.I321I|AMPH_uc003tgt.3_Silent_p.I74I	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	321					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						CAAAGAAACTGATGATGTTCT	0.468000														118			26		0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11152215	11152215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:11152215C>T	uc010dxp.3	+	30	4763	c.4403C>T	c.(4402-4404)gCc>gTc	p.A1468V	SMARCA4_uc010dxo.3_Missense_Mutation_p.A1500V|SMARCA4_uc002mqf.4_Missense_Mutation_p.A1468V|SMARCA4_uc010dxq.3_Missense_Mutation_p.A1435V|SMARCA4_uc010dxr.3_Missense_Mutation_p.A1435V|SMARCA4_uc002mqj.4_Missense_Mutation_p.A1438V|SMARCA4_uc010dxs.3_Missense_Mutation_p.A1438V|SMARCA4_uc002mqh.4_Missense_Mutation_p.A558V	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1468					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ATTGTGGATGCCGTGATCAAG	0.612000			"""F, N, Mis"""		NSCLC									49			24		0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111298075	111298075	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:111298075G>A	uc003dxw.3	+	4	963	c.793G>A	c.(793-795)Gtt>Att	p.V265I	CD96_uc003dxv.3_Missense_Mutation_p.V249I|CD96_uc003dxx.3_Missense_Mutation_p.V249I|CD96_uc010hpy.1_Missense_Mutation_p.V249I	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	265					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CACAGTCAAGGTTTTTGGTAA	0.502000									Opitz Trigonocephaly syndrome					80			36		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48443435	48443435	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:48443435C>T	uc003toq.2	+	38	12053	c.12029C>T	c.(12028-12030)tCc>tTc	p.S4010F	ABCA13_uc010kys.1_Missense_Mutation_p.S1084F|ABCA13_uc003tos.1_Missense_Mutation_p.S836F|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4010	ABC transporter 1.				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						GACCCTTGCTCCCGGCATAGC	0.557000														16			8		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26414347	26414347	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:26414347C>T	uc001isn.2	+	18	2284	c.1924C>T	c.(1924-1926)Cgg>Tgg	p.R642W	MYO3A_uc009xko.1_Missense_Mutation_p.R642W|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	642	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.R642W(2)|p.R642L(1)		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						GCTTTGCATTCGGGCAGATGA	0.418000														24			19		0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62929435	62929435	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:62929435C>T	uc001sre.3	+	13	2237	c.1846C>T	c.(1846-1848)Cat>Tat	p.H616Y	MON2_uc010ssn.2_Missense_Mutation_p.H616Y|MON2_uc009zqj.3_Missense_Mutation_p.H616Y|MON2_uc010ssl.2_Missense_Mutation_p.H544Y|MON2_uc010ssm.2_Intron|MON2_uc001srf.3_Missense_Mutation_p.H379Y	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	616					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	p.H616N(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CCTGCCTCCCCATTATGCTCT	0.418000														123			31		0	0	1	0	0
GLCE	26035	broad.mit.edu	37	15	69561416	69561416	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:69561416C>T	uc002ary.1	+	4	1915	c.1687C>T	c.(1687-1689)Cgt>Tgt	p.R563C		NM_015554	NP_056369	O94923	GLCE_HUMAN	Homo sapiens glucuronic acid epimerase (GLCE), mRNA.	563					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						CTATGACCTCCGTCACTTCAT	0.507000														167			64		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141294180	141294180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:141294180C>T	uc002tvj.1	-	45	8584	c.7612G>A	c.(7612-7614)Gat>Aat	p.D2538N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2538	LDL-receptor class A 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTGATTTATCTTTACAGTGA	0.393000										TSP Lung(27;0.18)				58			21		0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060588	111060588	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:111060588C>T	uc001dzt.1	-	0	1210	c.822G>A	c.(820-822)gtG>gtA	p.V274V		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	274						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)		AGGTAGACTCCACCATGAAGA	0.532000														159			51		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179574561	179574561	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179574561G>A	uc021vsy.1	-	95	24978	c.24753C>T	c.(24751-24753)ttC>ttT	p.F8251F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F4912F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9178	Ig-like 65.						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)			GTCTTTTAGTGAAACTTGGTG	0.398000														68			24		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62985100	62985100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:62985100C>T	uc002alb.4	+	9	1175	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	392	FERM.|Interaction with PIP5K1C (By similarity).				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						GAGCAGATATCCCAGCTGATT	0.408000														111			46		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13781069	13781069	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13781069C>T	uc003jfd.2	-	53	8863	c.8821_splice	c.e53-1	p.I2941_splice		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2941	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CACGAGAGATCTGTAATATGG	0.398000									Kartagener syndrome					22			7		0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5457799	5457799	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:5457799C>T	uc003jdm.4	+	11	1268	c.1046C>T	c.(1045-1047)tCg>tTg	p.S349L		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	349	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CCAGTGCCCTCGCCCCCTCCG	0.448000														270			119		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870393	51870393	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:51870393C>T	uc002xwo.3	+	1	1283	c.396C>T	c.(394-396)atC>atT	p.I132I	TSHZ2_uc021wex.1_Silent_p.I129I	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	132					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N131K(1)		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)			ACGCCAACATCCTGTCGGATT	0.522000														91			34		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169640	207169640	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:207169640G>A	uc002vbp.2	+	4	638	c.388G>A	c.(388-390)Gag>Aag	p.E130K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	130							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						AGGCACGCAGGAGGTTTCAGT	0.458000														32			8		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554476	20554476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:20554476C>T	uc002dhj.4	-	11	1600	c.1390G>A	c.(1390-1392)Gat>Aat	p.D464N	ACSM2B_uc002dhk.4_Missense_Mutation_p.D464N|ACSM2B_uc010bwf.1_Missense_Mutation_p.D464N	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	464					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.D464N(2)|p.D464D(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTAATGATATCATCTGCCCGT	0.507000														475			32		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24923385	24923385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:24923385G>A	uc001ywo.3	+	0	2845	c.2371G>A	c.(2371-2373)Gat>Aat	p.D791N		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	791					cell differentiation|multicellular organismal development|spermatogenesis			p.H790L(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)		CAGTGCCCATGATTTCCTGAG	0.537000														309			115		0	0	1	0	0
IFNA7	3444	broad.mit.edu	37	9	21202135	21202135	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:21202135G>A	uc003zop.1	-	0	70	c.30C>T	c.(28-30)gtC>gtT	p.V10V	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	Homo sapiens interferon, alpha 7 (IFNA7), mRNA.	10				V -> A (in Ref. 3; AAA36039).	blood coagulation|cell-cell signaling|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			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GTACCAGCACGACCATCAGTA	0.512000														57			24		0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66457663	66457663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:66457663G>A	uc001ojd.3	-	26	5729	c.5657C>T	c.(5656-5658)gCc>gTc	p.A1886V	SPTBN2_uc001ojc.1_5'Flank	NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1886					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						CCAGGCCTCGGCCACGGCCTG	0.677000														52			48		0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49957961	49957961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:49957961G>A	uc004dow.1	-	4	1527	c.1403C>T	c.(1402-1404)tCc>tTc	p.S468F	AKAP4_uc004dou.1_Missense_Mutation_p.S459F|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.S290F	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	468					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTTCATGGTGGAGAATTCAAG	0.438000														69			54		0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161116026	161116026	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:161116026G>A	uc003lyu.2	+	3	635	c.297G>A	c.(295-297)gaG>gaA	p.E99E	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	99					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGCCAACTGAGATTCTGAGTC	0.413000										TCGA Ovarian(5;0.080)				63			42		0	0	1	0	0
OR10G3	26533	broad.mit.edu	37	14	22038433	22038433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:22038433C>T	uc010tmb.2	-	0	443	c.443G>A	c.(442-444)gGa>gAa	p.G148E		NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		CATCCAGGCTCCAGCCACAAG	0.572000														77			36		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34137075	34137075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:34137075C>T	uc001zhi.3	+	92	13379	c.13309C>T	c.(13309-13311)Cct>Tct	p.P4437S	RYR3_uc010bar.3_Missense_Mutation_p.P4432S	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4437					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)		CACTGAAGAACCTTTAGAAGA	0.413000														28			10		0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148768478	148768478	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:148768478G>A	uc003wfh.2	-	3	1523	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	ZNF786_uc011kuk.1_Silent_p.F425F|ZNF786_uc003wfi.2_Silent_p.F376F	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCCTCTGACGGAAGTTCCTGC	0.612000														46			12		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228860280	228860280	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:228860280C>T	uc002vpq.2	-	7	4626	c.4579G>A	c.(4579-4581)Gaa>Aaa	p.E1527K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1527K|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1527						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)		GGGTTGTCTTCCTCATTGGCA	0.572000														136			49		0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146563	70146563	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:70146563C>T	uc003hej.3	+	0	347	c.345C>T	c.(343-345)atC>atT	p.I115I	UGT2B28_uc010ihr.3_Silent_p.I115I	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	115					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AACAAGAAATCCTGTGGGAAT	0.294000														55			5		0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18234812	18234812	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:18234812C>T	uc004cyj.4	-	1	221	c.67G>A	c.(67-69)Gat>Aat	p.D23N	BEND2_uc010nfb.2_Missense_Mutation_p.D23N	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	23										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ATACTGCAATCATTGTTATCA	0.338000														43			27		0	0	1	0	0
HERC5	51191	broad.mit.edu	37	4	89384700	89384700	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:89384700C>T	uc003hrt.3	+	4	859	c.706C>T	c.(706-708)Ctt>Ttt	p.L236F		NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	Homo sapiens hect domain and RLD 5 (HERC5), mRNA.	236					ISG15-protein conjugation|innate immune response|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TGATCCATCCCTTATTGAAGG	0.438000														117			25		0	0	1	0	0
OVOS2	0	broad.mit.edu	37	12	31301831	31301831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:31301831C>T	uc010sjy.1	-	9	1121	c.1121G>A	c.(1120-1122)gGa>gAa	p.G374E						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)					AGTATAATTTCCTATAAATTC	0.343000														15			4		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4725190	4725190	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:4725190C>T	uc003bqc.3	+	25	3587	c.3237C>T	c.(3235-3237)ttC>ttT	p.F1079F	ITPR1_uc021wsi.1_Silent_p.F1085F|ITPR1_uc021wsj.1_Silent_p.F1070F|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1094					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGCTCCTCTTCCGGCACTTCA	0.592000														109			90		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480957	57480957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:57480957G>A	uc009vzx.1	-	11	1363	c.1043C>T	c.(1042-1044)cCt>cTt	p.P348L	DAB1_uc001cyt.1_Missense_Mutation_p.P346L|DAB1_uc001cyq.1_Missense_Mutation_p.P346L|DAB1_uc001cyr.1_Missense_Mutation_p.P262L|DAB1_uc009vzw.1_Missense_Mutation_p.P330L|DAB1_uc001cys.1_Missense_Mutation_p.P348L	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	381					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTGAGTGGCAGGAAAGAGACC	0.637000														136			42		0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117618454	117618454	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:117618454C>T	uc001egy.3	+	4	1268	c.1248C>T	c.(1246-1248)taC>taT	p.Y416Y	TTF2_uc001egx.1_Silent_p.Y416Y	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	416					RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GGCGTGTCTACCTTACAACAC	0.463000														85			109		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158615104	158615104	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:158615104G>A	uc001fst.1	-	28	4267	c.4068C>T	c.(4066-4068)atC>atT	p.I1356I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1356					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCCACTGTCGATAAGTTCTG	0.498000														71			23		0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25049660	25049660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:25049660G>A	uc001upl.3	-	14	1970	c.1864C>T	c.(1864-1866)Cct>Tct	p.P622S	PARP4_uc010tdc.2_Missense_Mutation_p.P622S	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	622	VIT.				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)		TCCTCCAGAGGAACCAAGTTC	0.448000														82			58		0	0	1	0	0
AQP6	363	broad.mit.edu	37	12	50369372	50369372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:50369372G>A	uc001rvr.1	+	3	1460	c.767G>A	c.(766-768)gGg>gAg	p.G256E	AQP6_uc001rvp.1_Missense_Mutation_p.G82E|AQP6_uc001rvq.1_Non-coding_Transcript	NM_001652	NP_001643	Q13520	AQP6_HUMAN	Homo sapiens aquaporin 6, kidney specific (AQP6), mRNA.	256					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						GTAGAGGTGGGGACAGGGGCA	0.652000														116			42		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1093686	1093686	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:1093686C>T	uc001lsx.1	+	31	5520	c.5493C>T	c.(5491-5493)ccC>ccT	p.P1831P		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1916						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)	GCACGGGGCCCCCCACCCACA	0.622000														151			94		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822170	43822170	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:43822170G>A	uc010skx.2	-	25	3819	c.3819C>T	c.(3817-3819)tcC>tcT	p.S1273S	ADAMTS20_uc001rno.1_Silent_p.S391S|ADAMTS20_uc001rnp.1_Silent_p.S427S	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1273			S -> F (in dbSNP:rs7310011).			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)		GCTGCACAGGGGAACTAGGAA	0.458000														46			16		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121930199	121930199	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:121930199G>A	uc004bkc.2	-	7	1905	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	483					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						CCAGGTCCTGGAAGTCCAGGT	0.562000														78			31		0	0	1	0	0
DNTTIP1	116092	broad.mit.edu	37	20	44430653	44430653	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:44430653C>T	uc002xpk.3	+	6	582	c.514C>T	c.(514-516)Cct>Tct	p.P172S		NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 1 (DNTTIP1), mRNA.	172						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AGGACGGCCTCCTGGACACAT	0.602000														124			42		0	0	1	0	0
KLF12	11278	broad.mit.edu	37	13	74569125	74569125	+	Splice_Site	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:74569125A>G	uc001vjf.3	-	2	255	c.33_splice	c.e2+1	p.K11_splice	KLF12_uc010aeq.3_Splice_Site_p.K11_splice|KLF12_uc001vjg.3_Splice_Site_p.K11_splice	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN	Homo sapiens Kruppel-like factor 12 (KLF12), mRNA.	11					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		TGACTAACCAACCTTTATTGT	0.323000														31			11		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108334242	108334242	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:108334242G>A	uc003ymn.3	-	3	1158	c.690C>T	c.(688-690)atC>atT	p.I230I	ANGPT1_uc011lhv.2_Silent_p.I30I|ANGPT1_uc003ymo.3_Silent_p.I230I|ANGPT1_uc003ymp.4_Silent_p.I30I	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	230					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)			CCAGCTCCTGGATTATATATG	0.423000														50			15		0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81593826	81593826	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:81593826G>A	uc021ssh.1	+	13	3392	c.3291G>A	c.(3289-3291)gtG>gtA	p.V1097V	IL16_uc010blq.1_Silent_p.V1051V|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Silent_p.V1139V|IL16_uc002bgg.3_Silent_p.V1097V|IL16_uc002bgi.1_Silent_p.V487V|IL16_uc002bgj.3_Silent_p.V591V|IL16_uc021ssi.1_Silent_p.V396V|IL16_uc002bgl.1_Silent_p.V396V|IL16_uc010unq.1_Silent_p.V396V	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	1097	Interaction with HTLV-1 tax.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.R1097R(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCGAGGAGGTGAAGGTTCTGG	0.473000														92			37		0	0	1	0	0
TBL1X	6907	broad.mit.edu	37	X	9665457	9665457	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:9665457C>T	uc004csr.3	+	11	1589	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S	TBL1X_uc004csq.4_Missense_Mutation_p.P317S|TBL1X_uc010ndr.3_Missense_Mutation_p.P317S|TBL1X_uc010ndq.3_Missense_Mutation_p.P368S|TBL1X_uc004css.3_Missense_Mutation_p.P319S	NM_005647	NP_001132940	O60907	TBL1X_HUMAN	Homo sapiens transducin (beta)-like 1X-linked (TBL1X), transcript variant 1, mRNA.	368					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				ACAGCAGTTTCCTTTTCATTC	0.373000														126			70		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669879	24669879	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:24669879G>A	uc001iru.4	+	2	839	c.436G>A	c.(436-438)Gat>Aat	p.D146N	KIAA1217_uc001irs.3_Missense_Mutation_p.D66N|KIAA1217_uc001irt.4_Missense_Mutation_p.D146N|KIAA1217_uc010qcy.2_Missense_Mutation_p.D146N|KIAA1217_uc010qcz.2_Missense_Mutation_p.D146N|KIAA1217_uc001irv.1_5'UTR|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	146					embryonic skeletal system development	cytoplasm		p.A145T(1)		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						GACGTCCGCTGATTCTTTGGA	0.547000														51			35		0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23208665	23208665	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:23208665C>T	uc002dlm.1	+	5	1133	c.994C>T	c.(994-996)Cat>Tat	p.H332Y		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	332					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)	GGTGATCATCCATCGGCAGGA	0.468000														41			23		0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91518632	91518632	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:91518632C>T	uc001kgs.1	+	26	4745	c.4673C>T	c.(4672-4674)tCt>tTt	p.S1558F	KIF20B_uc001kgr.1_Missense_Mutation_p.S1518F|KIF20B_uc001kgt.1_Missense_Mutation_p.S769F|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1558					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						TCAGAGACTTCTAAAATAGTC	0.289000														14			4		0	0	1	0	0
ZNF189	7743	broad.mit.edu	37	9	104171062	104171062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:104171062C>T	uc004bbh.1	+	2	1288	c.1012C>T	c.(1012-1014)Cac>Tac	p.H338Y	ZNF189_uc004bbg.1_Missense_Mutation_p.H296Y|ZNF189_uc004bbi.1_Missense_Mutation_p.H324Y|ZNF189_uc011lvk.1_Missense_Mutation_p.H323Y|ZNF189_uc022ble.1_Missense_Mutation_p.H243Y	NM_003452	NP_932094	O75820	ZN189_HUMAN	Homo sapiens zinc finger protein 189 (ZNF189), transcript variant 1, mRNA.	338					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CCAAAAAATTCACACTGGCGA	0.413000														86			26		0	0	1	0	0
LRWD1	222229	broad.mit.edu	37	7	102113410	102113410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:102113410G>A	uc003uzn.3	+	14	1996	c.1858G>A	c.(1858-1860)Gtg>Atg	p.V620M		NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.	620					DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CAAGACCATGGTGAACACAGT	0.632000														134			49		0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167850906	167850906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:167850906C>T	uc003lzu.3	+	10	1736	c.1643C>T	c.(1642-1644)tCc>tTc	p.S548F	WWC1_uc003lzv.3_Missense_Mutation_p.S548F|WWC1_uc011den.2_Missense_Mutation_p.S548F|WWC1_uc003lzw.3_Missense_Mutation_p.S347F	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	548					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CCACCCTGTTCCCCTCTCATG	0.612000														78			55		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142173457	142173457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:142173457G>A	uc003yvy.3	+	9	1416	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	DENND3_uc010mep.3_Missense_Mutation_p.E341K|DENND3_uc003yvz.1_Missense_Mutation_p.E64K	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	380	dDENN.							p.Y379D(1)		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)			TTTAAACTATGAACACAGAGT	0.378000														242			66		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25294347	25294347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:25294347G>A	uc003abg.2	+	19	2753	c.2596G>A	c.(2596-2598)Gat>Aat	p.D866N	SGSM1_uc010guu.1_Missense_Mutation_p.D811N|SGSM1_uc003abh.2_Missense_Mutation_p.D805N|SGSM1_uc003abj.2_Missense_Mutation_p.D750N|SGSM1_uc003abi.1_Missense_Mutation_p.D786N	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	866	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity	p.G866S(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						TGAAAAGGACGATGTTGTGAT	0.587000														136			68		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94474416	94474416	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:94474416G>A	uc001dqh.3	-	40	5830	c.5726C>T	c.(5725-5727)cCc>cTc	p.P1909L	ABCA4_uc001dqi.1_Missense_Mutation_p.P28L	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1909					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)		CTCCTTAGTGGGCTCGGCAAT	0.458000														144			137		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058510	152058510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:152058510G>A	uc001ezo.1	-	2	1713	c.1648C>T	c.(1648-1650)Ccc>Tcc	p.P550S		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	550							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)			AGGCTGTTGGGAGTTTCAGAA	0.552000														142			88		0	0	1	0	0
SPP2	6694	broad.mit.edu	37	2	234959619	234959619	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:234959619C>T	uc002vvk.1	+	1	175	c.90C>T	c.(88-90)ttC>ttT	p.F30F	SPP2_uc010fyl.1_Intron	NM_006944	NP_008875	Q13103	SPP24_HUMAN	Homo sapiens secreted phosphoprotein 2, 24kDa (SPP2), mRNA.	30					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GTCCAGGTTTCCCAGTGTACG	0.542000														36			11		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81660787	81660787	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:81660787G>A	uc001szo.2	-	29	3657	c.3496C>T	c.(3496-3498)Ctt>Ttt	p.L1166F	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.L1065F|PPFIA2_uc021rbh.1_Missense_Mutation_p.L1061F|PPFIA2_uc021rbi.1_Missense_Mutation_p.L1160F|PPFIA2_uc021rbj.1_Missense_Mutation_p.L1145F|PPFIA2_uc021rbk.1_Missense_Mutation_p.L1151F|PPFIA2_uc021rbl.1_Missense_Mutation_p.L1166F|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.L702F|PPFIA2_uc021rbf.1_Missense_Mutation_p.L352F	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.	1066										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						TCTCTTTCAAGAATCTGCCTT	0.353000														37			10		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6897271	6897271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:6897271G>A	uc002mfw.3	+	3	388	c.350G>A	c.(349-351)gGa>gAa	p.G117E	EMR1_uc010dvc.3_Missense_Mutation_p.G117E|EMR1_uc010dvb.3_Intron|EMR1_uc010xji.2_Intron|EMR1_uc010xjj.2_Missense_Mutation_p.G117E	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	117	EGF-like 2; 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)					TCTCCCACTGGAAATGACTGG	0.522000														55			25		0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732408	152732408	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:152732408C>T	uc001fal.1	+	1	402	c.344C>T	c.(343-345)tCt>tTt	p.S115F	KPRP_uc021ozf.1_Missense_Mutation_p.S115F	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	115	Gln-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)			CCATGCCAATCTGAGGTGTCC	0.498000														418			248		0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077395	19077395	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:19077395G>A	uc001mph.3	-	1	643	c.555C>T	c.(553-555)ttC>ttT	p.F185F	MRGPRX2_uc021qer.1_Silent_p.F185F	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	185					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CTGCAGTGATGAAATCAAATG	0.517000														76			20		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158485992	158485992	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:158485992G>A	uc003qqx.2	+	10	1600	c.1494G>A	c.(1492-1494)ggG>ggA	p.G498G	SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Silent_p.G498G|SYNJ2_uc003qqy.2_Silent_p.G261G|SYNJ2_uc011efn.1_Silent_p.G426G|SYNJ2_uc010kjo.1_Silent_p.G447G|SYNJ2_uc003qqz.2_Silent_p.G115G	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	498							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)		CAGACAAAGGGGGCATGCTGC	0.657000														16			11		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96009842	96009842	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:96009842C>T	uc004ati.1	+	6	1560	c.1560C>T	c.(1558-1560)ttC>ttT	p.F520F	WNK2_uc011lud.1_Silent_p.F520F|WNK2_uc004atj.3_Silent_p.F520F|WNK2_uc004atk.3_Silent_p.F157F|WNK2_uc010mrc.1_Silent_p.F520F|WNK2_uc010mrd.1_Silent_p.F157F	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	520					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	p.D520D(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CTGGATTCTTCCACGAGAGTG	0.592000														30			8		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390744	197390744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:197390744C>T	uc001gtz.3	+	5	1995	c.1786C>T	c.(1786-1788)Cct>Tct	p.P596S	CRB1_uc010poz.2_Missense_Mutation_p.P527S|CRB1_uc009wza.3_Missense_Mutation_p.P484S|CRB1_uc010ppa.2_Intron|CRB1_uc010ppb.2_Missense_Mutation_p.P596S|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.P77S|CRB1_uc001gub.1_Missense_Mutation_p.P245S	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	596	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	p.A595G(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CGCGAAAGCTCCTACTCCACT	0.458000														131			43		0	0	1	0	0
GSDMB	55876	broad.mit.edu	37	17	38063225	38063225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:38063225G>A	uc010cwj.3	-	6	847	c.716C>T	c.(715-717)tCa>tTa	p.S239L	GSDMB_uc010cwi.3_Intron|GSDMB_uc010cwl.3_Intron|GSDMB_uc010cwm.3_Non-coding_Transcript|GSDMB_uc010cwk.3_Non-coding_Transcript|GSDMB_uc002htg.3_Intron|GSDMB_uc002hth.3_Missense_Mutation_p.S226L|GSDMB_uc010wem.2_Intron	NM_001165958	NP_001159430	Q8TAX9	GSDMB_HUMAN	Homo sapiens gasdermin B (GSDMB), transcript variant 3, mRNA.	237						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TAAACAGGATGAAGCACCATC	0.512000														68			40		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152500622	152500622	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:152500622G>A	uc021vrb.1	-	54	7695	c.7666C>T	c.(7666-7668)Cgc>Tgc	p.R2556C	NEB_uc002txu.3_Missense_Mutation_p.R2556C|NEB_uc021vrc.1_Missense_Mutation_p.R2556C|NEB_uc010fnx.3_Missense_Mutation_p.R2556C|NEB_uc021vrd.1_Missense_Mutation_p.R2556C	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2556					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)		AGCTGCTTGCGAAAGCCTTCC	0.448000														227			109		0	0	1	0	0
OR2T10	127069	broad.mit.edu	37	1	248756719	248756719	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:248756719G>A	uc010pzn.2	-	0	351	c.351C>T	c.(349-351)gcC>gcT	p.A117A		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	117					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)			CATAGGCCATGGCGGCTAGAA	0.562000														95			71		0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182468673	182468673	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:182468673G>A	uc002unx.3	-	1	473	c.372C>T	c.(370-372)atC>atT	p.I124I	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Silent_p.I124I|CERKL_uc010zfm.2_Silent_p.I124I|CERKL_uc002unz.3_5'UTR|CERKL_uc002uoa.3_Silent_p.I124I|CERKL_uc002uob.3_5'UTR|CERKL_uc002uoc.3_Silent_p.I124I|CERKL_uc021vth.1_5'UTR|CERKL_uc021vti.1_5'UTR|CERKL_uc021vtj.1_5'UTR|CERKL_uc021vtk.1_5'UTR|CERKL_uc021vtl.1_5'UTR|CERKL_uc021vtm.1_5'UTR|CERKL_uc002uod.2_5'UTR|CERKL_uc002uoe.3_Silent_p.I124I	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	124					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			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)			TTTTCAAGCAGATGAAGAGTG	0.323000														39			10		0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100341927	100341927	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:100341927G>A	uc003huv.2	-	5	865	c.624C>T	c.(622-624)gtC>gtT	p.V208V	ADH7_uc021xqj.1_Silent_p.V216V	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	208					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	GGCCAAAGACGACGCAAGTGG	0.468000														36			10		0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004720	248004720	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:248004720G>A	uc001idn.1	-	0	479	c.479C>T	c.(478-480)tCc>tTc	p.S160F		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	160					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)			AATCATCAGGGAAGGCAGAAA	0.562000														129			40		0	0	1	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74622736	74622736	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:74622736C>T	uc002jsh.3	-	4	1482	c.1308G>A	c.(1306-1308)ggG>ggA	p.G436G	ST6GALNAC1_uc002jsi.3_Silent_p.G304G|ST6GALNAC1_uc002jsj.3_Non-coding_Transcript	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (ST6GALNAC1), mRNA.	436					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TGCTCACCTTCCCAAGAGGCA	0.562000														651			227		0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12316171	12316171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:12316171C>T	uc001mkg.1	+	2	1484	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	398					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)		TCACTTTTTTCCTCCCTCAGA	0.453000														198			50		0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520991	33520991	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:33520991G>A	uc002hjd.2	-	0	422	c.336C>T	c.(334-336)atC>atT	p.I112I		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	112	DUF6 1.					integral to membrane											CAATGCTGAGGATGTTGAGCA	0.597000														273			125		0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239162251	239162251	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:239162251G>A	uc002vyc.3	-	18	2650	c.2413C>T	c.(2413-2415)Cga>Tga	p.R805*	PER2_uc010znv.1_Nonsense_Mutation_p.R805*	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	805					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GATGAGTCTCGAGGTTTGACC	0.557000														27			5		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193032886	193032886	+	Splice_Site	SNP	C	T	T	rs138259240		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:193032886C>T	uc011bsq.2	-	18	2034	c.2034_splice	c.e18-1	p.R678_splice		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	678					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)		CACTTTTTCTCTTTGTATTCA	0.323000														65			46		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48393853	48393853	+	Nonsense_Mutation	SNP	C	T	T	rs121912896		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:48393853C>T	uc001rqu.3	-	1	322	c.141G>A	c.(139-141)tgG>tgA	p.W47*	COL2A1_uc001rqv.3_Intron	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	47	VWFC.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GCTCCGGCTTCCACACATCCT	0.572000														66			28		0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75499767	75499767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:75499767C>T	uc002azp.4	+	1	1698	c.1378C>T	c.(1378-1380)Ccg>Tcg	p.P460S	C15orf39_uc002azq.4_Missense_Mutation_p.P460S|C15orf39_uc021sqm.1_Missense_Mutation_p.P219S|C15orf39_uc002azr.4_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	460										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GCACTCTGGGCCGCCCATCGT	0.647000														96			37		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594835	140594835	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140594835G>A	uc003lja.1	+	0	1327	c.1140G>A	c.(1138-1140)ggG>ggA	p.G380G		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	380	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAAAATGGGAAAATTAGTT	0.448000														145			121		0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48584556	48584556	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:48584556C>T	uc003gyh.1	-	19	2549	c.1944G>A	c.(1942-1944)tgG>tgA	p.W648*	FRYL_uc003gyk.3_Nonsense_Mutation_p.W648*	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTGCTTGTTTCCACTGATTTA	0.358000														35			8		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53907716	53907716	+	Missense_Mutation	SNP	C	T	T	rs146417353		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:53907716C>T	uc002acj.2	-	14	2729	c.2687G>A	c.(2686-2688)cGa>cAa	p.R896Q	WDR72_uc010bfi.1_Missense_Mutation_p.R896Q	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	896										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ATCTGACTCTCGCAAAGAATC	0.348000														18			7		0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39110480	39110480	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:39110480G>A	uc003jls.3	-	14	2342	c.2275C>T	c.(2275-2277)Ctt>Ttt	p.L759F	FYB_uc003jlt.3_Missense_Mutation_p.L805F|FYB_uc003jlu.3_Missense_Mutation_p.L759F|FYB_uc011cpl.2_Missense_Mutation_p.L815F	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	759					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding	p.V758F(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TAACTCCGAAGGACATAACCA	0.303000														14			6		0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606448	21606448	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:21606448C>T	uc002npw.3	+	3	1106	c.987C>T	c.(985-987)gcC>gcT	p.A329A	ZNF493_uc002npx.3_Silent_p.A201A|ZNF493_uc002npy.3_Silent_p.A201A|ZNF493_uc021urq.1_Silent_p.A201A	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GTGGCAAAGCCTTTAGTATTT	0.343000														63			15		0	0	1	0	0
C2orf65	130951	broad.mit.edu	37	2	74808912	74808912	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:74808912C>T	uc002smy.3	-	4	775	c.658G>A	c.(658-660)Gag>Aag	p.E220K	C2orf65_uc010ysa.2_Missense_Mutation_p.E220K|C2orf65_uc002smz.2_Missense_Mutation_p.E220K	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	220					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						AAGAAAATCTCCATGCTGACG	0.398000														124			59		0	0	1	0	0
TCR-alpha	0	broad.mit.edu	37	14	22337516	22337516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:22337516G>A	uc021rpg.1	+	1	370	c.307G>A	c.(307-309)Gac>Aac	p.D103N	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 85.																		CCAACCTGAAGACTCGGCTGT	0.498000														83			18		0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155491730	155491730	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:155491730G>A	uc003ioa.4	+	7	1443	c.1404G>A	c.(1402-1404)atG>atA	p.M468I	FGB_uc010ipv.3_Missense_Mutation_p.M409I	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	468	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TAGTATGGATGAATTGGAAGG	0.468000														39			23		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					55			26		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121748242	121748242	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:121748242G>A	uc010flp.3	+	12	4782	c.4752G>A	c.(4750-4752)atG>atA	p.M1584I	GLI2_uc002tmq.1_3'UTR|GLI2_uc002tmr.1_3'UTR|GLI2_uc002tmt.4_Missense_Mutation_p.M1256I|GLI2_uc002tmu.4_Missense_Mutation_p.M1239I	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1584					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TCCTGAACATGATGACCTAGA	0.602000														93			45		0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100514720	100514720	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:100514720G>A	uc002bvv.1	-	21	3254	c.3175C>T	c.(3175-3177)Cgg>Tgg	p.R1059W	ADAMTS17_uc002bvw.1_Non-coding_Transcript	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	1059	PLAC.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CGGATGACCCGGCAATATACC	0.567000														108			56		0	0	1	0	0
TEX19	400629	broad.mit.edu	37	17	80320137	80320137	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:80320137C>T	uc002keq.3	+	1	421	c.111C>T	c.(109-111)tgC>tgT	p.C37C	TEX19_uc021ufp.1_Silent_p.C37C	NM_207459	NP_997342	Q8NA77	TEX19_HUMAN	Homo sapiens testis expressed 19 (TEX19), mRNA.	37						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						GCTTCACCTGCTTCAAGGCTG	0.517000														212			85		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93806484	93806484	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:93806484C>T	uc001pep.2	+	7	1540	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	461	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.V461I(1)		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)				GCCCAGTCATCAAGGCAGAGG	0.438000														10			6		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113192643	113192643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:113192643G>A	uc010mtz.3	-	32	5778	c.5441C>T	c.(5440-5442)tCg>tTg	p.S1814L	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.	1814	Sushi 7.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.E1813A(1)|p.E1813K(1)		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						TTCCTGACACGAAAATGTGAC	0.403000														26			11		0	0	1	0	0
GALC	2581	broad.mit.edu	37	14	88448555	88448555	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:88448555A>T	uc001xvt.3	-	5	722	c.615T>A	c.(613-615)taT>taA	p.Y205*	GALC_uc010tvw.1_5'Flank|GALC_uc010tvy.2_Nonsense_Mutation_p.Y182*|GALC_uc010tvx.2_Nonsense_Mutation_p.Y179*|GALC_uc010tvz.1_Nonsense_Mutation_p.Y149*|GALC_uc001xvu.2_Nonsense_Mutation_p.Y205*	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	205					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACACCTTAATATAATTGGCAT	0.289000														41			23		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552747	140552747	+	Missense_Mutation	SNP	G	A	A	rs76427364		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140552747G>A	uc003lit.3	+	0	505	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	111	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L110L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTGTTATTGGAAAAACCTTT	0.433000														88			70		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99223110	99223110	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:99223110G>A	uc001tge.2	-	18	3325	c.2908C>T	c.(2908-2910)Cct>Tct	p.P970S	ANKS1B_uc001tgf.2_Intron|ANKS1B_uc001tgk.3_Missense_Mutation_p.P267S|ANKS1B_uc010svd.2_5'UTR|ANKS1B_uc001tgd.2_Intron|ANKS1B_uc009ztp.3_5'UTR|ANKS1B_uc010svf.2_5'UTR|ANKS1B_uc010sve.2_5'UTR|ANKS1B_uc001tgh.4_5'UTR|ANKS1B_uc009ztr.3_Intron|ANKS1B_uc001tgj.3_Intron|ANKS1B_uc001tgi.3_Missense_Mutation_p.P196S|ANKS1B_uc009zts.2_Missense_Mutation_p.P196S|ANKS1B_uc001tgg.4_Intron|ANKS1B_uc010svg.2_Intron	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	970						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		AACTGAGGAGGAGTGTGATTA	0.443000														81			20		0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32302432	32302432	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:32302432G>A	uc011alu.2	+	42	4963	c.4761G>A	c.(4759-4761)ctG>ctA	p.L1587L	DEPDC5_uc011als.2_Silent_p.L1487L|DEPDC5_uc003als.3_Silent_p.L1556L|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.L1578L|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Silent_p.L1005L|DEPDC5_uc003alw.3_Silent_p.L854L|DEPDC5_uc011alx.2_Silent_p.L404L|DEPDC5_uc010gwk.3_3'UTR|DEPDC5_uc011aly.2_Silent_p.L404L	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	1556					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						ACAACCGGCTGGTCACGTTCT	0.592000														417			108		0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96379924	96379924	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:96379924G>A	uc001tem.1	-	12	1363	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*	HAL_uc010sux.1_Nonsense_Mutation_p.R356*|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_Nonsense_Mutation_p.R148*	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	356					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CGGTGAGGTCGAAGAGCATGA	0.423000														48			23		0	0	1	0	0
ATP5L2	267020	broad.mit.edu	37	22	43036159	43036159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:43036159G>A	uc003bda.1	-	0	449	c.122C>T	c.(121-123)cCc>cTc	p.P41L	CYB5R3_uc011aps.2_Intron|CYB5R3_uc021wqn.1_Intron|CYB5R3_uc003bcy.3_Intron|CYB5R3_uc003bcx.3_Intron|CYB5R3_uc003bcz.3_Intron	NM_001165877	NP_001159349	Q7Z4Y8	AT5L2_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2 (ATP5L2), nuclear gene encoding mitochondrial protein, mRNA.	41					ATP synthesis coupled proton transport	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			endometrium(1)|kidney(1)	2						AGCAGGGGTGGGAGGAACCAG	0.498000														64			33		0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112998653	112998653	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:112998653C>T	uc001ebx.3	+	5	767	c.539C>T	c.(538-540)tCc>tTc	p.S180F	CTTNBP2NL_uc001ebz.3_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA.	180						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)		CAGCTCTCATCCATGCTAGTG	0.498000														67			73		0	0	1	0	0
AKAP8L	26993	broad.mit.edu	37	19	15507970	15507970	+	Silent	SNP	C	T	T	rs45541735		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:15507970C>T	uc002naw.1	-	11	1626	c.1527G>A	c.(1525-1527)cgG>cgA	p.R509R	AKAP8L_uc002nax.1_Non-coding_Transcript|AKAP8L_uc010xoh.1_Silent_p.R448R	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8-like (AKAP8L), mRNA.	509						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						CCCTGCGGTTCCGGTTGTGAT	0.572000														269			221		0	0	1	0	0
RARRES1	5918	broad.mit.edu	37	3	158428691	158428691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:158428691C>T	uc003fci.3	-	2	442	c.371G>A	c.(370-372)gGg>gAg	p.G124E	RARRES1_uc003fcj.3_Missense_Mutation_p.G124E	NM_206963	NP_996846	P49788	TIG1_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 1 (RARRES1), transcript variant 1, mRNA.	124					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)	AGAACATTTCCCCAAACGTCC	0.443000														158			128		0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54951462	54951462	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:54951462C>T	uc004dtq.3	+	5	1553	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	TRO_uc004dts.3_Silent_p.F482F|TRO_uc004dtr.3_Silent_p.F482F|TRO_uc004dtt.3_Non-coding_Transcript|TRO_uc004dtu.3_Non-coding_Transcript|TRO_uc004dtv.3_Silent_p.F85F|TRO_uc011mok.2_Silent_p.F13F|TRO_uc004dtw.3_Silent_p.F85F|TRO_uc004dtx.3_5'UTR|SNORA11_uc022bxj.1_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	482	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ATGAATATTTCCCAGAAATCA	0.502000														27			20		0	0	1	0	0
GBP2	2634	broad.mit.edu	37	1	89582689	89582689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:89582689G>A	uc001dmz.1	-	5	1125	c.854C>T	c.(853-855)cCa>cTa	p.P285L	GBP2_uc001dmy.1_Non-coding_Transcript	NM_004120	NP_004111	P32456	GBP2_HUMAN	Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.	285			P -> A (in dbSNP:rs1803632).		interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CCCATTGACTGGAATGCCACC	0.458000														59			33		0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45005696	45005696	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:45005696G>A	uc003tmh.2	-	15	2277	c.2133C>T	c.(2131-2133)ccC>ccT	p.P711P	MYO1G_uc003tmg.2_Silent_p.P473P|MYO1G_uc010kym.2_Silent_p.P596P|MYO1G_uc003tmi.1_3'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	711	IQ.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GCACAATGATGGGGATGAGGC	0.612000														59			15		0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17419559	17419559	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:17419559C>T	uc011kye.2	+	9	1779	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	SLC7A2_uc011kyc.2_Silent_p.F537F|SLC7A2_uc011kyd.2_Silent_p.F576F	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	537					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TTGTTCTCTTCGTTGCCATCG	0.512000														66			9		0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165404237	165404237	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:165404237G>A	uc002ucl.3	-	2	955	c.414C>T	c.(412-414)atC>atT	p.I138I	GRB14_uc010zcv.2_Silent_p.I51I	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	138	Ras-associating.				blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GATTCTTCAGGATCAACAGCT	0.438000														43			14		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3201562	3201562	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:3201562C>T	uc021xkv.1	+	40	5617	c.5472C>T	c.(5470-5472)tcC>tcT	p.S1824S		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1824					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)		GGGCTCGTTCCATGATCACCA	0.597000														69			33		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907726	164907726	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:164907726G>A	uc003fej.4	-	1	1337	c.893C>T	c.(892-894)tCg>tTg	p.S298L	SLITRK3_uc003fek.3_Missense_Mutation_p.S298L|SLITRK3_uc021xgy.1_Missense_Mutation_p.S298L	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	298						integral to membrane		p.S298L(4)		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						ACTTGATGACGAATGTGGAAT	0.433000										HNSCC(40;0.11)				127			96		0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142567290	142567290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:142567290G>A	uc003evd.3	-	2	524	c.217C>T	c.(217-219)Ctc>Ttc	p.L73F		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.	73	CUB 1.					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						CGGAAATTGAGAACGACTACT	0.453000														96			64		0	0	1	0	0
PRSS8	5652	broad.mit.edu	37	16	31144211	31144211	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:31144211C>T	uc002ebc.4	-	3	662	c.330G>A	c.(328-330)gaG>gaA	p.E110E	PRSS8_uc010vfe.2_Intron	NM_002773	NP_002764	Q16651	PRSS8_HUMAN	Homo sapiens protease, serine, 8 (PRSS8), mRNA.	110	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						CCTTGGCGTCCTCGGAGTAGG	0.632000														231			43		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711128	140711128	+	Missense_Mutation	SNP	C	T	T	rs145926133		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140711128C>T	uc003lji.2	+	0	877	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C	PCDHGC5_uc011dan.2_Missense_Mutation_p.R293C	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	294	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R293C(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAATATTTCGTTTAGATTC	0.428000														51			40		0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53855283	53855283	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:53855283C>T	uc010ydv.1	+	3	1472	c.1355C>T	c.(1354-1356)tCg>tTg	p.S452L	ZNF845_uc010ydw.1_Missense_Mutation_p.S452L	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S452S(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGTTTCAAATCGAACCTTGAA	0.393000														44			40		0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71526560	71526560	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:71526560A>C	uc009zrt.1	-	5	651	c.489T>G	c.(487-489)aaT>aaG	p.N163K	TSPAN8_uc001swk.1_Missense_Mutation_p.N163K|TSPAN8_uc001swj.1_Missense_Mutation_p.N163K	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	163					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			GTTGAAAATTATTTCCCCAAT	0.368000														202			139		0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203143639	203143639	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:203143639G>A	uc001gzh.1	-	2	486	c.427C>T	c.(427-429)Ctg>Ttg	p.L143L		NM_004997	NP_004988	Q13203	MYBPH_HUMAN	Homo sapiens myosin binding protein H (MYBPH), mRNA.	143	Fibronectin type-III 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GACACGCGCAGGAGGAACTTG	0.637000														68			20		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502889	140502889	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140502889A>C	uc003lip.1	+	0	1309	c.1309A>C	c.(1309-1311)Acc>Ccc	p.T437P		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	437	Cadherin 4.				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)			GCAGAACATAACCGTGCAGGT	0.592000														123			80		0	0	1	0	0
CHI3L1	1116	broad.mit.edu	37	1	203152894	203152895	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:203152894_203152895GG>AA	uc001gzi.2	-	4	510_511	c.339_340CC>TT	c.(337-342)acccag>acTTag	p.Q114*	CHI3L1_uc001gzk.1_5'Flank|CHI3L1_uc001gzj.2_Nonsense_Mutation_p.Q114*	NM_001276	NP_001267	P36222	CH3L1_HUMAN	Homo sapiens chitinase 3-like 1 (cartilage glycoprotein-39) (CHI3L1), mRNA.	114					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						CGGCGACTCTGGGTGTTGGAGG	0.550000														117			40		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62195150	62195150	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:62195150G>A	uc002yfm.2	-	8	5917	c.5025C>T	c.(5023-5025)atC>atT	p.I1675I	PRIC285_uc002yfl.1_Silent_p.I1106I	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1675					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GGTACCTGCGGATGGGCGAGG	0.701000														25			10		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091084	74091084	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:74091084G>A	uc021ulp.1	-	3	3304	c.2986C>T	c.(2986-2988)Cct>Tct	p.P996S	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	996					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)		GGAGGTAGAGGAGGAGCGCCC	0.672000														43			29		0	0	1	0	0
OR1J1	347168	broad.mit.edu	37	9	125240164	125240164	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:125240164G>A	uc011lyu.2	-	0	42	c.42C>T	c.(40-42)ctC>ctT	p.L14L	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GGAGGCCCAGGAGGAGGAACT	0.562000														123			53		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132498142	132498142	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:132498142C>T	uc001ujn.3	+	17	3871	c.3719C>T	c.(3718-3720)tCc>tTc	p.S1240F	EP400_uc021rgq.1_Missense_Mutation_p.S1239F|EP400_uc001ujm.3_Missense_Mutation_p.S1240F	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1276	Helicase ATP-binding.|Interactions with RUVBL1 and RUVBL2.				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)		TACCTGAGCTCCCCTCTGAGG	0.537000														100			34		0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21205551	21205551	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:21205551C>T	uc002gys.3	+	5	761	c.496C>T	c.(496-498)Ctt>Ttt	p.L166F	MAP2K3_uc002gyt.3_Missense_Mutation_p.L137F|MAP2K3_uc021tsq.1_Missense_Mutation_p.L137F|MAP2K3_uc021tsr.1_Missense_Mutation_p.L137F	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	166	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		AGAGGACATCCTTGGGGAGAT	0.582000														72			9		0	0	1	0	0
LRRC56	115399	broad.mit.edu	37	11	551919	551919	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:551919C>T	uc010qvz.2	+	10	1495	c.990C>T	c.(988-990)ctC>ctT	p.L330L		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.	330										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)		GCCAAGTCCTCTGTGGGAACC	0.652000														62			15		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128491636	128491636	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:128491636C>T	uc003vnz.4	+	34	6005	c.5796C>T	c.(5794-5796)ttC>ttT	p.F1932F	FLNC_uc003voa.4_Silent_p.F1899F	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1932					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						TCGTGCGCTTCGATGACAAGC	0.577000														114			43		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76022427	76022428	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:76022427_76022428GG>AA	uc010kbe.3	-	5	3659_3660	c.3129_3130CC>TT	c.(3127-3132)acccca>acTTca	p.P1044S	FILIP1_uc003phy.1_Missense_Mutation_p.P1041S|FILIP1_uc003phz.3_Missense_Mutation_p.P942S|FILIP1_uc003pia.3_Missense_Mutation_p.P1041S|FILIP1_uc003pib.1_Missense_Mutation_p.P793S	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	1041										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						TGTTTTTCTGGGGTGACTTTGA	0.450000														143			96		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51097060	51097060	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:51097060G>A	uc003tps.3	-	10	2089	c.1904C>T	c.(1903-1905)tCc>tTc	p.S635F	COBL_uc003tpr.4_Missense_Mutation_p.S578F|COBL_uc011kcl.2_Missense_Mutation_p.S578F|COBL_uc003tpp.4_Missense_Mutation_p.S364F|COBL_uc003tpq.4_Missense_Mutation_p.S519F|COBL_uc003tpo.4_Missense_Mutation_p.S120F	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	578										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)					TGGCGCCAGGGAGTCTCTCCT	0.552000														64			18		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41400150	41400150	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:41400150C>T	uc002xkg.3	-	4	793	c.609G>A	c.(607-609)gtG>gtA	p.V203V	PTPRT_uc010ggj.3_Silent_p.V203V	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	203	Ig-like C2-type.				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)				GCCCCACATTCACCTCCACGT	0.493000														151			46		0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722784	58722784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:58722784G>A	uc001nnh.2	+	5	592	c.542G>A	c.(541-543)gGa>gAa	p.G181E	GLYATL1_uc001nnf.3_Missense_Mutation_p.G150E|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.G150E|GLYATL1_uc001nnj.2_Missense_Mutation_p.G150E	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	150						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)	AGCAAGCTTGGAAGCTGGGCT	0.408000														48			36		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064301	7064301	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:7064301G>A	uc001mfb.1	+	3	1367	c.1044G>A	c.(1042-1044)tgG>tgA	p.W348*		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	348	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)		ATAAGAGGTGGGCCATGAAAG	0.428000														73			13		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38704843	38704843	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:38704843G>A	uc021yzh.1	+	6	872	c.763_splice	c.e6-1	p.E255_splice	DNAH8_uc003ooe.2_Splice_Site_p.E38_splice	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						ACCCTTTCAGGAAGCGCTCTT	0.343000														77			25		0	0	1	0	0
PRKACA	5566	broad.mit.edu	37	19	14213654	14213654	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:14213654G>A	uc002myc.3	-	3	510	c.310C>T	c.(310-312)Ctc>Ttc	p.L104F	PRKACA_uc002myb.3_Missense_Mutation_p.L96F|PRKACA_uc010xnm.1_Missense_Mutation_p.L46F|PRKACA_uc002myd.3_Missense_Mutation_p.L46F	NM_002730	NP_002721	P17612	KAPCA_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, alpha (PRKACA), transcript variant 1, mRNA.	104	Protein kinase.				G2/M transition of mitotic cell cycle|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|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						AGTTTGACGAGGAACGGAAAG	0.592000														121			54		0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220473424	220473424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:220473424C>T	uc002vml.3	+	14	1799	c.1756C>T	c.(1756-1758)Cgc>Tgc	p.R586C	STK11IP_uc010zll.2_Missense_Mutation_p.R543C|STK11IP_uc002vmm.1_Missense_Mutation_p.R575C	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	586	Glu-rich.				protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAAGCAGCTCGCACCTTGGA	0.652000														53			22		0	0	1	0	0
C1orf210	149466	broad.mit.edu	37	1	43748497	43748497	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:43748497C>T	uc001cit.4	-	2	535	c.301G>A	c.(301-303)Gag>Aag	p.E101K	C1orf210_uc021omn.1_Missense_Mutation_p.E101K	NM_182517	NP_872323	Q8IVY1	CA210_HUMAN	Homo sapiens chromosome 1 open reading frame 210 (C1orf210), transcript variant 1, mRNA.	101						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTCCCCAGCTCGCCAGTCCCA	0.582000														133			47		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76503579	76503579	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:76503579C>T	uc010dhp.2	-	27	4670	c.4545G>A	c.(4543-4545)ggG>ggA	p.G1515G		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)			GCTGGGAGTCCCCCGGGAGCT	0.582000														66			17		0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62204553	62204553	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:62204553C>T	uc003dlb.3	+	12	2903	c.2184C>T	c.(2182-2184)agC>agT	p.S728S	PTPRG_uc003dlc.3_Silent_p.S728S|PTPRG_uc011bfi.2_Silent_p.S3S	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	728					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)		GAATGATAAGCCGCCCTGCTC	0.507000														95			72		0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99672295	99672295	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:99672295G>A	uc002bup.3	+	4	3847	c.3727G>A	c.(3727-3729)Ggg>Agg	p.G1243R	SYNM_uc002buo.3_Intron|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	1244	Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	p.N1242N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TTCTGCTGCAGGGAAGGTTGG	0.478000														112			46		0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756601	56756601	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:56756601C>T	uc010rjp.2	+	0	213	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D70Y(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TTGTTGATATCTGTTACACTT	0.353000														31			26		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21840765	21840765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:21840765G>A	uc003svc.3	+	62	10089	c.10058G>A	c.(10057-10059)cGa>cAa	p.R3353Q		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3353	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3353Q(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GATCTGGATCGAAATCTGAGC	0.368000									Kartagener syndrome					11			10		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102503254	102503254	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:102503254G>A	uc003pqp.4	+	14	2654	c.2361G>A	c.(2359-2361)gaG>gaA	p.E787E	GRIK2_uc010kcw.3_Silent_p.E787E|GRIK2_uc003pqo.4_Silent_p.E787E|GRIK2_uc021zdk.1_Silent_p.E600E|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.	787					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)	AGCTGCAAGAGGAAGGCAAAC	0.438000														31			15		0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139428988	139428988	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:139428988C>T	uc002tvi.3	-	1	299	c.299G>A	c.(298-300)aGg>aAg	p.R100K		NM_007226	NP_009157	O95156	NXPH2_HUMAN	Homo sapiens neurexophilin 2 (NXPH2), mRNA.	100	III.				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		TACTATTGGCCTCCGTTTAGT	0.448000														49			21		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52567770	52567770	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:52567770G>A	uc010bff.3	-	4	757	c.595C>T	c.(595-597)Ccc>Tcc	p.P199S	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript|MYO5C_uc010ugc.2_Missense_Mutation_p.P162S	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	199	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.N198S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCGGTGATGGGATTGGATGCC	0.557000														133			51		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323922	79323922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:79323922C>T	uc010mpk.3	-	7	3392	c.3268G>A	c.(3268-3270)Gaa>Aaa	p.E1090K	PRUNE2_uc022bih.1_Missense_Mutation_p.E912K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1090					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGGTTTGTTTCATTGTACAGT	0.517000														104			40		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270573	1270573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:1270573C>T	uc002cks.3	+	34	6889	c.6641C>T	c.(6640-6642)aCc>aTc	p.T2214I	CACNA1H_uc002ckt.3_Missense_Mutation_p.T2208I|CACNA1H_uc002cku.3_Missense_Mutation_p.T909I|CACNA1H_uc010brj.3_Missense_Mutation_p.T925I|CACNA1H_uc002ckv.3_Missense_Mutation_p.T903I	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2214					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)	GGCGGCAGCACCACACTGAGG	0.716000														43			8		0	0	1	0	0
LAX1	54900	broad.mit.edu	37	1	203743453	203743453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:203743453G>A	uc001haa.3	+	4	1251	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	LAX1_uc010pql.2_Missense_Mutation_p.E265K|LAX1_uc001hab.3_Missense_Mutation_p.E205K	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	Homo sapiens lymphocyte transmembrane adaptor 1 (LAX1), transcript variant 1, mRNA.	281					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	SH2 domain binding|protein kinase binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCCATCCAGGAAAGGCAGCT	0.502000														71			34		0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48537004	48537004	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:48537004G>A	uc001zwn.4	+	10	1571	c.1355G>A	c.(1354-1356)gGg>gAg	p.G452E	SLC12A1_uc010uew.1_Missense_Mutation_p.G258E|SLC12A1_uc010bem.3_Missense_Mutation_p.G452E|SLC12A1_uc001zwq.4_Missense_Mutation_p.G223E|SLC12A1_uc001zwr.4_Missense_Mutation_p.G179E	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	452					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ATCATTTCTGGGATGAACTGC	0.478000														52			16		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34015064	34015064	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:34015064C>T	uc001zhi.3	+	43	6838	c.6768C>T	c.(6766-6768)ctC>ctT	p.L2256L	RYR3_uc010bar.3_Silent_p.L2256L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2256	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)		ACCCAGCGCTCGACCTCCCCT	0.562000														174			61		0	0	1	0	0
MTX3	345778	broad.mit.edu	37	5	79284378	79284378	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:79284378G>A	uc010jag.3	-	4	438	c.411C>T	c.(409-411)atC>atT	p.I137I	MTX3_uc010jah.3_Silent_p.I137I|MTX3_uc003kge.4_Silent_p.I76I|MTX3_uc003kgf.1_5'Flank	NM_001167741	NP_001161213	Q5HYI7	MTX3_HUMAN	Homo sapiens metaxin 3 (MTX3), transcript variant 1, mRNA.	137					protein targeting to mitochondrion	mitochondrial outer membrane				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		TTCCAGGCAGGATCAAACTCA	0.458000														17			9		0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241886654	241886654	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:241886654G>A	uc001hzg.2	+	8	1287	c.1080G>A	c.(1078-1080)ggG>ggA	p.G360G	WDR64_uc021plh.1_Silent_p.G154G|WDR64_uc021pli.1_Silent_p.G80G	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	360										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AGCCAGTAGGGAAACTTGTAG	0.448000														55			24		0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999393	112999393	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:112999393C>T	uc001ebx.3	+	5	1507	c.1279C>T	c.(1279-1281)Cct>Tct	p.P427S	CTTNBP2NL_uc001ebz.3_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA.	427						actin cytoskeleton	protein binding	p.S426F(1)		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)		AACATCCTCTCCTTGCTCTTC	0.557000														686			134		0	0	1	0	0
TSTD2	158427	broad.mit.edu	37	9	100380128	100380128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:100380128G>A	uc004axn.3	-	3	1002	c.514C>T	c.(514-516)Ctt>Ttt	p.L172F	TSTD2_uc004axo.3_5'UTR|TSTD2_uc004axp.1_5'UTR	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 (TSTD2), mRNA.	172										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						CAGTAATAAAGGAGCACCTCC	0.483000														65			16		0	0	1	0	0
KRT38	8687	broad.mit.edu	37	17	39597035	39597035	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:39597035C>T	uc002hwq.1	-	0	562	c.139G>A	c.(139-141)Gcc>Acc	p.A47T		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	47	Head.					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)				GCCACGTTGGCCAAAAGGCAC	0.627000														103			37		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632278	156632278	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:156632278G>A	uc003iov.3	+	6	1497	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	GUCY1A3_uc003iou.2_Missense_Mutation_p.E321K|GUCY1A3_uc010iqc.2_Missense_Mutation_p.E321K|GUCY1A3_uc010iqd.3_Missense_Mutation_p.E320K|GUCY1A3_uc003iow.3_Missense_Mutation_p.E321K|GUCY1A3_uc003iox.3_Missense_Mutation_p.E321K|GUCY1A3_uc010iqe.3_Missense_Mutation_p.E86K|GUCY1A3_uc003ioy.3_Missense_Mutation_p.E321K|GUCY1A3_uc003ioz.3_Missense_Mutation_p.E86K|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.E321K	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	321					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GCCTAATTTTGAAGAATACTT	0.383000														53			18		0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671922	45671922	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:45671922C>T	uc021qgn.1	-	0	552	c.552G>A	c.(550-552)aaG>aaA	p.K184K	CHST1_uc001mys.2_Silent_p.K184K	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	184					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GTAGCCCGCACTTGCGCACAC	0.731000														78			17		0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63557241	63557241	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:63557241G>A	uc004dvs.3	-	8	1098	c.1008C>T	c.(1006-1008)gtC>gtT	p.V336V	MTMR8_uc011mou.2_Silent_p.V336V	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	336	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						CAGAACAATGGACTAAGACAC	0.458000														11			6		0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2413892	2413892	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:2413892C>T	uc010xgx.2	+	8	1347	c.1347C>T	c.(1345-1347)gcC>gcT	p.A449A	TMPRSS9_uc002lvv.1_Silent_p.A483A	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	449					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		TGGCTCCTGCCCCTGCCGCCC	0.662000														38			10		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32039805	32039805	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:32039805C>T	uc003nzl.2	-	12	5154	c.4952G>A	c.(4951-4953)gGg>gAg	p.G1651E		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1733					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						GCGTCGTTTCCCATCCTGGAT	0.612000														129			54		0	0	1	0	0
ACTA1	58	broad.mit.edu	37	1	229568051	229568051	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:229568051G>A	uc001htm.3	-	3	687	c.582C>T	c.(580-582)atC>atT	p.I194I		NM_001100	NP_001091	P68133	ACTS_HUMAN	Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA.	194					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GCTCAGTGAGGATCTTCATCA	0.687000														66			24		0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167753943	167753943	+	Silent	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:167753943C>A	uc003qvs.1	+	2	643	c.555C>A	c.(553-555)ccC>ccA	p.P185P		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	185	TTL.				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)		TCGTCATGCCCAATGACTATA	0.498000														102			6		1	1	1	1	0
OR6M1	390261	broad.mit.edu	37	11	123676285	123676285	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:123676285C>T	uc010rzz.2	-	0	773	c.773G>A	c.(772-774)aGa>aAa	p.R258K		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V257V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CTGATTGGGTCTCACATACAC	0.507000														35			22		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394754	164394754	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:164394754C>T	uc003iqp.4	-	0	294	c.133G>A	c.(133-135)Gca>Aca	p.A45T		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	45						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACCTCCGCTGCACTGCAGCAC	0.602000														44			12		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540798	133540798	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:133540798G>A	uc002ttp.3	-	13	3960	c.3586C>T	c.(3586-3588)Cca>Tca	p.P1196S	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1196							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						ATGCTTGCTGGATTCTTGGAG	0.493000														66			26		0	0	1	0	0
TXNDC8	255220	broad.mit.edu	37	9	113066797	113066797	+	Silent	SNP	T	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:113066797T>G	uc004bes.3	-	4	320	c.271A>C	c.(271-273)Aga>Cga	p.R91R	TXNDC8_uc011lwl.2_Silent_p.R71R	NM_001003936	NP_001003936	Q6A555	TXND8_HUMAN	Homo sapiens thioredoxin domain containing 8 (spermatozoa) (TXNDC8), mRNA.	91	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	Golgi apparatus	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CTTTTGATTCTTGAGAATAGG	0.383000														91			32		0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34977564	34977564	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:34977564C>T	uc003zvq.3	+	6	1210	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	KIAA1045_uc003zvr.3_Silent_p.I344I	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	Homo sapiens KIAA1045 (KIAA1045), mRNA.	344							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			TGGGTCCCATCGCAGATAGCA	0.602000														31			7		0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122068317	122068317	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:122068317C>T	uc021xrj.1	-	9	932	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K	TNIP3_uc010ing.3_Missense_Mutation_p.E208K|TNIP3_uc011cgj.2_Missense_Mutation_p.E278K	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN	Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.	208										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						AAGTCTTCTTCGTATATTTGC	0.368000														53			32		0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111321970	111321970	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:111321970G>A	uc001trv.1	+	7	1185	c.990G>A	c.(988-990)gaG>gaA	p.E330E	CCDC63_uc010sye.1_Silent_p.E290E|CCDC63_uc001trw.1_Silent_p.E245E	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	330								p.K329T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TGGCCAAGGAGGAGAAGAATT	0.532000														105			29		0	0	1	0	0
ERH	2079	broad.mit.edu	37	14	69847312	69847312	+	Nonsense_Mutation	SNP	C	T	T	rs11545983		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:69847312C>T	uc001xlc.2	-	3	329	c.258G>A	c.(256-258)tgG>tgA	p.W86*		NM_004450	NP_004441	P84090	ERH_HUMAN	Homo sapiens enhancer of rudimentary homolog (Drosophila) (ERH), mRNA.	86					cell cycle|pyrimidine nucleoside metabolic process	midbody	protein binding								all cancers(60;0.00365)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0507)		TCTCTTTAATCCAGTCTTTGT	0.502000														95			30		0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122125381	122125381	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:122125381G>A	uc002tnc.3	-	33	4056	c.3666C>T	c.(3664-3666)tcC>tcT	p.S1222S	CLASP1_uc010yyv.2_Silent_p.S269S|CLASP1_uc002tmz.3_Silent_p.S308S|CLASP1_uc002tna.3_Silent_p.S269S|CLASP1_uc010yyw.2_Non-coding_Transcript|CLASP1_uc002tnb.3_Non-coding_Transcript|CLASP1_uc010yyx.2_Non-coding_Transcript|CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Silent_p.S1163S|CLASP1_uc010yza.2_Silent_p.S1155S|CLASP1_uc021vnl.1_Silent_p.S1161S|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tmy.3_Silent_p.S59S|CLASP1_uc002tnf.3_Silent_p.S125S	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	1223					G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CAGTGGCAGGGGAGGCAGCGC	0.577000														75			30		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38862615	38862615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:38862615G>A	uc021yzh.1	+	58	8831	c.8722G>A	c.(8722-8724)Gag>Aag	p.E2908K	DNAH8_uc003ooe.2_Missense_Mutation_p.E2691K	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						TTTCAAACACGAGTGCAGCAG	0.403000														28			13		0	0	1	0	0
NHLRC4	283948	broad.mit.edu	37	16	618156	618156	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:618156C>T	uc002chl.3	+	1	705	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L	PIGQ_uc010bqw.3_Intron|NHLRC4_uc021szs.1_Silent_p.L37L|PIGQ_uc002chm.3_5'Flank|PIGQ_uc002chn.3_5'Flank|PIGQ_uc002cho.3_5'Flank	NM_176677	NP_788850	P0CG21	NHLC4_HUMAN	Homo sapiens NHL repeat containing 4 (NHLRC4), mRNA.	37																	CCGCCAACCCCTGGGCTCCCT	0.662000														30			5		0	0	1	0	0
ATAD3B	83858	broad.mit.edu	37	1	1417665	1417665	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:1417665C>T	uc001afv.3	+	5	763	c.662C>T	c.(661-663)aCc>aTc	p.T221I	ATAD3B_uc001afw.2_Missense_Mutation_p.T175I|ATAD3B_uc001afx.3_Missense_Mutation_p.T175I	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	Homo sapiens ATPase family, AAA domain containing 3B (ATAD3B), nuclear gene encoding mitochondrial protein, mRNA.	221							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|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;0.145)		CACCGTCAGACCGTCTTGGAG	0.692000														56			19		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8338977	8338977	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:8338977G>A	uc003zkk.3	-	42	6067	c.5324C>T	c.(5323-5325)gCt>gTt	p.A1775V	PTPRD_uc003zkp.3_Missense_Mutation_p.A1369V|PTPRD_uc003zkq.3_Missense_Mutation_p.A1368V|PTPRD_uc003zkr.3_Missense_Mutation_p.A1359V|PTPRD_uc003zks.3_Missense_Mutation_p.A1368V|PTPRD_uc022bdj.1_Missense_Mutation_p.A1365V	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1775	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)		GTTGTACTCAGCCATGGGATC	0.418000										TSP Lung(15;0.13)				56			18		0	0	1	0	0
SLC22A4	6583	broad.mit.edu	37	5	131647922	131647923	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:131647922_131647923CC>TT	uc003kwq.3	+	1	627_628	c.462_463CC>TT	c.(460-465)ctcctc>ctTTtc	p.L155F	SLC22A4_uc010jdq.1_Non-coding_Transcript|LOC553103_uc021ydj.1_Non-coding_Transcript	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	Homo sapiens solute carrier family 22 (organic cation/ergothioneine transporter), member 4 (SLC22A4), mRNA.	155					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|PDZ domain binding|carnitine transporter activity|cation:cation antiporter activity|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TAGGCGTGCTCCTCGGCTCCTT	0.594000														86			72		0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48419850	48419850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:48419850C>T	uc003csr.3	+	5	635	c.449C>T	c.(448-450)tCa>tTa	p.S150L	FBXW12_uc010hjv.3_Missense_Mutation_p.S131L|FBXW12_uc003css.3_Intron|FBXW12_uc010hjw.3_Intron|Metazoa_SRP_uc021wxm.1_5'Flank	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	150										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTCCATTTCTCAAATCTGGTA	0.483000														54			35		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14832636	14832636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:14832636C>T	uc001rcd.3	-	5	922	c.785G>A	c.(784-786)cGa>cAa	p.R262Q	GUCY2C_uc009zhz.2_Missense_Mutation_p.R262Q	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	262					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	p.R262L(2)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGCCACTGCTCGGTCACCCTT	0.418000														81			25		0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63978283	63978283	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:63978283T>G	uc001nyl.2	+	2	510	c.361T>G	c.(361-363)Ttc>Gtc	p.F121V	FERMT3_uc001nym.2_Missense_Mutation_p.F121V	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	Homo sapiens fermitin family member 3 (FERMT3), transcript variant URP2LF, mRNA.	121					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	p.F121L(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CCAGCCCCTCTTCCAGGCTGT	0.667000														102			76		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189020328	189020328	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:189020328C>T	uc011cle.1	-	4	703	c.481_splice	c.e4-1	p.R161_splice	TRIML2_uc003izj.1_Splice_Site|TRIML2_uc003izk.1_Splice_Site|TRIML2_uc003izl.2_Splice_Site_p.R111_splice|TRIML2_uc011clf.1_Splice_Site_p.R161_splice	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	111							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ACGGCCCAGTCTCTGCAGAAG	0.453000														216			39		0	0	1	0	0
SPIB	6689	broad.mit.edu	37	19	50923207	50923207	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:50923207G>A	uc002psd.3	+	1	53	c.28G>A	c.(28-30)Gac>Aac	p.D10N	SPIB_uc021uyc.1_5'UTR|SPIB_uc002pse.3_Missense_Mutation_p.D10N|SPIB_uc010ycc.2_5'UTR	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Homo sapiens Spi-B transcription factor (Spi-1/PU.1 related) (SPIB), transcript variant 1, mRNA.	10	TAD1 (Acidic).				regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CTCCAGGCTCGACGGGCCACA	0.647000														13			14		0	0	1	0	0
HEMK1	51409	broad.mit.edu	37	3	50615261	50615261	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:50615261C>T	uc003dau.3	+	6	915	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	HEMK1_uc003dav.3_Missense_Mutation_p.R207W	NM_016173	NP_057257	Q9Y5R4	HEMK1_HUMAN	Homo sapiens HemK methyltransferase family member 1 (HEMK1), mRNA.	207					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		GTGTAGGCTTCGGTTGCAGGA	0.547000														144			124		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26462592	26462592	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:26462592G>A	uc001isn.2	+	30	3759	c.3399_splice	c.e30-1	p.R1133_splice	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1133					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						TTTTACACAGGGAATCTTTCG	0.338000														14			13		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139912449	139912449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:139912449G>A	uc004ckm.1	-	14	2209	c.2159C>T	c.(2158-2160)cCc>cTc	p.P720L	ABCA2_uc022bpy.1_Missense_Mutation_p.P621L|ABCA2_uc022bpz.1_Missense_Mutation_p.P691L|ABCA2_uc011mem.1_Missense_Mutation_p.P690L|ABCA2_uc004ckl.1_Missense_Mutation_p.P621L|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	690					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCAGGGGTAGGGGAACATCTG	0.672000														48			9		0	0	1	0	0
PDGFRL	5157	broad.mit.edu	37	8	17486116	17486116	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:17486116G>A	uc003wxr.3	+	4	1071	c.626G>A	c.(625-627)aGg>aAg	p.R209K		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA.	209						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		ACGCTCCACAGGGAATTCCCA	0.547000														103			45		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885075	88885075	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:88885075G>A	uc003ydz.3	-	0	1222	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	375										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						GTGCTCCTCGGAAGCCCCCGA	0.592000														52			22		0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191894583	191894583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:191894583G>A	uc002usm.2	-	23	2545	c.2230C>T	c.(2230-2232)Cct>Tct	p.P744S	STAT4_uc002usn.2_Missense_Mutation_p.P744S	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	744					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GCAGAATAAGGAGACTTCATC	0.323000														162			58		0	0	1	0	0
NR4A1	3164	broad.mit.edu	37	12	52451274	52451274	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:52451274C>T	uc001rzs.3	+	6	1819	c.1500C>T	c.(1498-1500)gtC>gtT	p.V500V	NR4A1_uc010sno.2_Silent_p.V513V|NR4A1_uc001rzt.3_Silent_p.V500V|NR4A1_uc009zmc.3_Missense_Mutation_p.S114F	NM_002135	NP_775180	P22736	NR4A1_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.	500					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		TTGTCGATGTCCCTGCCTTCG	0.612000														73			29		0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184090594	184090594	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:184090594T>C	uc003fol.1	-	5	984	c.769A>G	c.(769-771)Act>Gct	p.T257A	THPO_uc003fom.2_Missense_Mutation_p.T253A|THPO_uc021xii.1_Missense_Mutation_p.N251S|THPO_uc003fon.3_Missense_Mutation_p.N218S|THPO_uc011bro.2_Intron|THPO_uc003fop.3_Missense_Mutation_p.N214S|THPO_uc011brp.2_Intron|THPO_uc011brq.2_Missense_Mutation_p.N178S	NM_000460	NP_000451	P40225	TPO_HUMAN	Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.	257					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)			AGTCCACGAGTTCCATTCAAG	0.567000														176			130		0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35075302	35075302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:35075302C>T	uc002xff.3	+	6	2045	c.1610C>T	c.(1609-1611)cCc>cTc	p.P537L	DLGAP4_uc010zvp.2_Missense_Mutation_p.P537L	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	537					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)				TCCCCACCGCCCAGTACCGGC	0.602000														68			14		0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47361193	47361193	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:47361193C>T	uc003crd.3	+	1	306	c.180C>T	c.(178-180)atC>atT	p.I60I	KLHL18_uc003crc.2_Silent_p.I60I|KLHL18_uc011bav.2_Intron	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	60										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CAGCCTCGATCCCGTATTTCC	0.433000														231			70		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97564103	97564103	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:97564103G>A	uc001drv.3	-	20	2845	c.2708C>T	c.(2707-2709)gCt>gTt	p.A903V		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	903					'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)	TGGTGAAAAAGCTACATTTTG	0.358000														44			36		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154185239	154185239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:154185239C>T	uc004fmt.3	-	10	1916	c.1745G>A	c.(1744-1746)gGa>gAa	p.G582E		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	582	F5/8 type A 2.				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	p.G582E(2)		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)	CACCTGGTTTCCTCTTTGATC	0.418000														125			81		0	0	1	0	0
ZNF622	90441	broad.mit.edu	37	5	16463741	16463741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:16463741G>A	uc003jfq.3	-	1	856	c.736C>T	c.(736-738)Ctt>Ttt	p.L246F		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	Homo sapiens zinc finger protein 622 (ZNF622), mRNA.	246						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						ATGGCACCAAGGGGTGGGCCT	0.478000														296			121		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10491134	10491134	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:10491134G>A	uc003bvt.3	-	1	533	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	ATP2B2_uc003bvv.3_Missense_Mutation_p.R32C|ATP2B2_uc003bvw.3_Missense_Mutation_p.R32C|ATP2B2_uc010hdp.2_Missense_Mutation_p.R32C	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	32					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						ATGAGGGAGCGGAGCTCCTCC	0.557000														100			72		0	0	1	0	0
MARCKSL1	65108	broad.mit.edu	37	1	32800251	32800251	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:32800251G>A	uc001bvd.3	-	1	735	c.535C>T	c.(535-537)Ccc>Tcc	p.P179S		NM_023009	NP_075385	P49006	MRP_HUMAN	Homo sapiens MARCKS-like 1 (MARCKSL1), mRNA.	179						plasma membrane	calmodulin binding			breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGCCCCGAGGGAGTGGATGGC	0.632000														144			30		0	0	1	0	0
CCL24	6369	broad.mit.edu	37	7	75441266	75441266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:75441266C>T	uc011kga.2	-	2	267	c.208G>A	c.(208-210)Ggc>Agc	p.G70S		NM_002991	NP_002982	O00175	CCL24_HUMAN	Homo sapiens chemokine (C-C motif) ligand 24 (CCL24), mRNA.	70					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of Rac GTPase activity|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|signal transduction	extracellular space	chemokine activity			endometrium(1)|lung(2)	3						AACTGCTGGCCCTTCTTGGTG	0.612000														84			24		0	0	1	0	0
LOC729020	729020	broad.mit.edu	37	10	105006191	105006191	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:105006191G>A	uc009xxi.2	+	0	548	c.438G>A	c.(436-438)ggG>ggA	p.G146G	BC040734_uc001kwr.3_Intron	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN	Homo sapiens rcRPE (LOC729020), mRNA.	146					carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity										TGGAACCGGGGTTTGGAGAGC	0.473000														69			51		0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55027248	55027248	+	Missense_Mutation	SNP	G	A	A	rs149703805	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:55027248G>A	uc002xxp.2	+	5	1241	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	CASS4_uc002xxq.4_Missense_Mutation_p.R339Q|CASS4_uc010zze.1_Missense_Mutation_p.R285Q|CASS4_uc002xxr.2_Missense_Mutation_p.R339Q|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	339					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						CTGATTCCCCGAGTGGAACAG	0.473000														98			51		0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69378929	69378929	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:69378929A>T	uc001xkl.3	-	3	681	c.371T>A	c.(370-372)cTg>cAg	p.L124Q	ACTN1_uc010ttb.2_Missense_Mutation_p.L59Q|ACTN1_uc001xkm.3_Missense_Mutation_p.L124Q|ACTN1_uc001xkn.3_Missense_Mutation_p.L124Q|ACTN1_uc001xko.1_Missense_Mutation_p.L59Q|ACTN1_uc010ttd.1_Missense_Mutation_p.L103Q	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	124	Actin-binding.|CH 1.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GATCATGCCCAGGGTCATCTT	0.537000											OREG0022758	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		139			39		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5853361	5853361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:5853361G>A	uc001qnm.2	-	11	1373	c.1301C>T	c.(1300-1302)cCt>cTt	p.P434L		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	439						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						GACGGTGGCAGGGTTGTCAAA	0.542000														66			19		0	0	1	0	0
DGKQ	1609	broad.mit.edu	37	4	961348	961348	+	Missense_Mutation	SNP	C	T	T	rs146401678		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:961348C>T	uc003gbw.3	-	7	1050	c.976G>A	c.(976-978)Gag>Aag	p.E326K	DGKQ_uc010ibn.3_Missense_Mutation_p.E326K	NM_001347	NP_001338	P52824	DGKQ_HUMAN	Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.	326					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	ATP binding|activating transcription factor binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGCACCTCCTCGGCACCGGCC	0.682000														63			33		0	0	1	0	0
GDF6	392255	broad.mit.edu	37	8	97156938	97156938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:97156938C>T	uc003yhp.3	-	1	1321	c.1221G>A	c.(1219-1221)atG>atA	p.M407I		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	Homo sapiens growth differentiation factor 6 (GDF6), mRNA.	407					BMP signaling pathway|activin receptor signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CCATGGAGTTCATCAGCGTCT	0.612000														48			18		0	0	1	0	0
SH3GL3	6457	broad.mit.edu	37	15	84245353	84245353	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:84245353G>A	uc002bjw.3	+	5	679	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	SH3GL3_uc010uot.1_Missense_Mutation_p.E162K|SH3GL3_uc002bjx.3_Missense_Mutation_p.E93K|SH3GL3_uc002bju.3_Missense_Mutation_p.E170K|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	162	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GAAAAAGCTGGAAGGCCGCCG	0.393000														38			28		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36222932	36222932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:36222932C>T	uc021usv.1	+	26	5561	c.5561C>T	c.(5560-5562)cCt>cTt	p.P1854L	MLL2_uc021usu.1_Missense_Mutation_p.P668L	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	468					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						AGCGCCCCTCCTCCAGCCCCC	0.642000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				20			11		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100128049	100128049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:100128049G>A	uc003yiv.3	+	6	995	c.884G>A	c.(883-885)gGc>gAc	p.G295D	VPS13B_uc003yiw.3_Missense_Mutation_p.G295D|VPS13B_uc003yit.3_Missense_Mutation_p.G295D|VPS13B_uc003yiu.1_Missense_Mutation_p.G295D|VPS13B_uc003yis.3_Missense_Mutation_p.G295D|VPS13B_uc011lgy.2_Missense_Mutation_p.G171D	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	295					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)			TTTAAAGAAGGCGAAATAGAG	0.294000														76			11		0	0	1	0	0
FAM86C1	55199	broad.mit.edu	37	11	71507081	71507081	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:71507081A>T	uc001oqv.4	+	3	306	c.280A>T	c.(280-282)Aag>Tag	p.K94*	FAM86C1_uc009ysr.3_Nonsense_Mutation_p.K87*|FAM86C1_uc001oqw.4_Nonsense_Mutation_p.K60*|FAM86C1_uc009yss.3_Non-coding_Transcript|FAM86C1_uc010rqq.2_Non-coding_Transcript|BC073927_uc001oqx.1_Intron	NM_018172	NP_060642	Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member C1 (FAM86C1), transcript variant 1, mRNA.	94										lung(1)	1						TATTGCCCAGAAGCCATCGTG	0.612000														122			11		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50589166	50589166	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:50589166C>T	uc003bjj.3	+	20	2813	c.2730C>T	c.(2728-2730)atC>atT	p.I910I	MOV10L1_uc003bjk.4_Silent_p.I910I|MOV10L1_uc011arp.2_Silent_p.I890I|MOV10L1_uc003bjl.3_Silent_p.I37I|MOV10L1_uc003bjm.1_Intron	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	910					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding	p.I910I(2)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTGTGCAGATCGTGCTGGCAG	0.622000														33			20		0	0	1	0	0
CPN1	1369	broad.mit.edu	37	10	101829527	101829527	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:101829527C>T	uc001kql.2	-	2	780	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_001308	NP_001299	P15169	CBPN_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.	174	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)		CCGTACTTCTCGTTATAGTAG	0.483000														75			74		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196749422	196749422	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:196749422G>A	uc002utj.4	-	34	5751	c.5650C>T	c.(5650-5652)Cga>Tga	p.R1884*		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1884					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						TTTCGAGTTCGATCTGAAATT	0.358000														75			39		0	0	1	0	0
FBXW9	84261	broad.mit.edu	37	19	12802235	12802235	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:12802235G>C	uc010dyx.2	-	3	682	c.682C>G	c.(682-684)Cgc>Ggc	p.R228G	FBXW9_uc010xmp.2_Intron|FBXW9_uc002mum.1_Missense_Mutation_p.R238G	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	Homo sapiens F-box and WD repeat domain containing 9 (FBXW9), mRNA.	238							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GAGCACACGCGGTGGTCCTGC	0.652000														6			9		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60909353	60909354	+	Missense_Mutation	DNP	CA	AT	AT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:60909353_60909354CA>AT	uc002ycq.3	-	21	2694_2695	c.2627_2628TG>AT	c.(2626-2628)ctg>cAT	p.L876H	LAMA5_uc021wfw.1_Missense_Mutation_p.L876H|MIR4758_uc021wfx.1_5'Flank	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	876	Domain IV 1 (domain IV B).				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)	CCTCCAGCTCCAGGCGCAGGTG	0.663000														24			6		0	0	1	0	0
CLYBL	171425	broad.mit.edu	37	13	100511124	100511124	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:100511124C>T	uc001vok.3	+	2	290	c.259C>T	c.(259-261)Cga>Tga	p.R87*	CLYBL_uc010tix.2_Nonsense_Mutation_p.R87*|CLYBL_uc010tiy.2_Nonsense_Mutation_p.R87*	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	Homo sapiens citrate lyase beta like (CLYBL), mRNA.	87					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAATGAAGCTCGACTGAGAAT	0.388000														30			42		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34150082	34150082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:34150082G>A	uc004ddg.3	-	0	366	c.314C>T	c.(313-315)tCc>tTc	p.S105F		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	105										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						AGAGAGCTTGGAAAATAGGGC	0.547000														96			62		0	0	1	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71360430	71360430	+	Silent	SNP	C	T	T	rs148255112		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:71360430C>T	uc002sht.2	+	1	844	c.492C>T	c.(490-492)ccC>ccT	p.P164P	MPHOSPH10_uc010feb.1_Silent_p.P164P	NM_005791	NP_005782	O00566	MPP10_HUMAN	Homo sapiens M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) (MPHOSPH10), mRNA.	164					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GGAAAAGCCCCGTTTTCAGTG	0.433000														165			61		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163374317	163374317	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:163374317C>T	uc002uch.2	-	3	1044	c.815G>A	c.(814-816)aGa>aAa	p.R272K	KCNH7_uc002uci.3_Missense_Mutation_p.R272K	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	272					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CGAAGATGCTCTCCGTATACT	0.458000														40			10		0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178389739	178389739	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:178389739C>T	uc001glq.3	+	4	1422	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	RASAL2_uc009wxb.2_Missense_Mutation_p.R220C|RASAL2_uc001glr.3_Missense_Mutation_p.R72C	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	72	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TCCATCCCTTCGCAGTACAGA	0.413000														18			17		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545065	82545065	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:82545065G>A	uc003uhx.2	-	6	12526	c.12237C>T	c.(12235-12237)ctC>ctT	p.L4079L	PCLO_uc003uhv.2_Silent_p.L4079L|PCLO_uc010lec.3_Silent_p.L1044L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4010					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						TGGTTCGAAGGAGACGGTCTG	0.463000														14			5		0	0	1	0	0
IQSEC2	23096	broad.mit.edu	37	X	53283775	53283776	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:53283775_53283776GG>AA	uc004dsd.3	-	3	1538_1539	c.1337_1338CC>TT	c.(1336-1338)tcc>tTT	p.S446F	IQSEC2_uc004dsc.3_Missense_Mutation_p.S241F|IQSEC2_uc022bxf.1_Missense_Mutation_p.S209F	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	Homo sapiens IQ motif and Sec7 domain 2 (IQSEC2), transcript variant 1, mRNA.	436					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						ATGTGGTGACGGAGCTTCCACC	0.579000														59			27		0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36298396	36298396	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:36298396G>A	uc003oly.3	-	1	250	c.72C>T	c.(70-72)gcC>gcT	p.A24A		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	24								p.A24A(2)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CTTTCCCGGGGGCCTGCGGCC	0.642000														139			50		0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86199465	86199465	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:86199465G>A	uc001taf.1	-	1	662	c.323C>T	c.(322-324)cCc>cTc	p.P108L		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	108	Ras-associating.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGCATATTGGGCTGCTCATC	0.443000														154			50		0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23346485	23346485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:23346485C>T	uc001whd.3	+	6	2444	c.1891C>T	c.(1891-1893)Ccc>Tcc	p.P631S	LRP10_uc001whe.3_Intron	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.	631	Pro-rich.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		GTCTCCAGCCCCCACTACTGT	0.672000														160			57		0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	107691411	107691411	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:107691411G>A	uc001dvh.4	+	1	914	c.196G>A	c.(196-198)Gat>Aat	p.D66N	NTNG1_uc001dvc.4_Missense_Mutation_p.D66N|NTNG1_uc010out.2_Missense_Mutation_p.D66N|NTNG1_uc001dvf.4_Missense_Mutation_p.D66N|NTNG1_uc001dvd.1_Missense_Mutation_p.D66N	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	66	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding	p.D66Y(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AGTGAAACTCGATCCTCCGGA	0.438000														87			72		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39750861	39750861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:39750861C>T	uc021olt.1	+	10	1305	c.1253C>T	c.(1252-1254)tCa>tTa	p.S418L	MACF1_uc021ols.1_Missense_Mutation_p.S418L|MACF1_uc001cdc.2_Missense_Mutation_p.S418L|MACF1_uc001cda.1_Missense_Mutation_p.S326L	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	418					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)			CGAGAGAAATCACTTCGGCCG	0.453000														83			38		0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113783846	113783846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:113783846G>A	uc001vsx.3	+	1	208	c.151G>A	c.(151-153)Gga>Aga	p.G51R	F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.3_Missense_Mutation_p.G51R	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	51	Gla.		G -> V (in FA10D).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	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(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATGAAGAAAGGACACCTCGA	0.562000														66			129		0	0	1	0	0
HS3ST6	64711	broad.mit.edu	37	16	1961657	1961657	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:1961657C>T	uc002cnf.3	-	1	870	c.870G>A	c.(868-870)caG>caA	p.Q290Q	TCRBV20S1_uc021tak.1_Intron	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.	290										endometrium(2)|lung(2)	4						GGTAGAACTCCTGCAGGCGCC	0.692000														21			8		0	0	1	0	0
EDEM1	9695	broad.mit.edu	37	3	5249907	5249907	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:5249907C>T	uc003bqi.3	+	7	1600	c.1468C>T	c.(1468-1470)Ctg>Ttg	p.L490L	EDEM1_uc011asz.1_Silent_p.L268L|EDEM1_uc021wsl.1_Silent_p.L295L	NM_014674	NP_055489	Q92611	EDEM1_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 1 (EDEM1), mRNA.	490					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)		CTTCTACCCACTGAGACCAGA	0.488000														158			40		0	0	1	0	0
KLK14	43847	broad.mit.edu	37	19	51582952	51582952	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:51582952G>A	uc021uyk.1	-	4	487	c.268C>T	c.(268-270)Cag>Tag	p.Q90*	KLK14_uc002pvs.1_Nonsense_Mutation_p.Q90*	NM_022046	NP_071329	Q9P0G3	KLK14_HUMAN	Homo sapiens kallikrein-related peptidase 14 (KLK14), mRNA.	90	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		AGGGCAACCTGAAGGATCCTG	0.662000														9			3		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52359611	52359611	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:52359611G>A	uc003xqu.4	-	11	1579	c.1478C>T	c.(1477-1479)tCg>tTg	p.S493L		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	493	Ig-like C2-type 3.				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)				CACCCCCAACGAACTGACTGC	0.468000														210			40		0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121260236	121260236	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:121260236G>A	uc003eee.4	-	2	563	c.434C>T	c.(433-435)cCc>cTc	p.P145L		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	145	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGAAACAAAGGGAAGAATAAA	0.378000								DNA polymerases (catalytic subunits)						325			188		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179515540	179515540	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179515540G>A	uc021vsy.1	-	162	32570	c.32345C>T	c.(32344-32346)cCt>cTt	p.P10782L	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_Non-coding_Transcript|TTN_uc002umx.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11709	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)			TTCCAAGACAGGTTTCTTTGG	0.408000														6			3		0	0	1	0	0
MTERFD2	130916	broad.mit.edu	37	2	242035496	242035496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:242035496C>T	uc002wan.1	-	2	1643	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N	MTERFD2_uc010zoj.1_Missense_Mutation_p.D167N	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	Homo sapiens MTERF domain containing 2 (MTERFD2), transcript variant 1, mRNA.	355										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		tcatcattgtcatcctcatca	0.517000														70			33		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233160912	233160912	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:233160912G>A	uc001hvl.2	-	25	4820	c.4585C>T	c.(4585-4587)Ctc>Ttc	p.L1529F	PCNXL2_uc001hvk.1_Missense_Mutation_p.L181F|PCNXL2_uc001hvm.1_Intron	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1529						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TAGCGGATGAGGATCCTTCGG	0.532000														117			27		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43709640	43709640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:43709640C>T	uc002ovy.3	-	0	151	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	PSG4_uc002ovz.3_Missense_Mutation_p.G17R|PSG4_uc002owb.3_Missense_Mutation_p.G17R	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	17					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)				AGCAGGACCCCCTTCCAGGTG	0.587000														46			39		0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126075787	126075787	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:126075787G>A	uc003yrt.3	-	10	1714	c.1385C>T	c.(1384-1386)cCc>cTc	p.P462L	KIAA0196_uc011lir.2_Missense_Mutation_p.P314L	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	462					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TCTGGTTAGGGGTTTCACTCC	0.428000														127			36		0	0	1	0	0
RRP1B	23076	broad.mit.edu	37	21	45096182	45096182	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:45096182C>T	uc002zdk.3	+	6	693	c.579C>T	c.(577-579)atC>atT	p.I193I		NM_015056	NP_055871	Q14684	RRP1B_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.	193					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		TCAAGTTTATCGATCCATTCT	0.438000														115			57		0	0	1	0	0
CTRC	11330	broad.mit.edu	37	1	15771198	15771198	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:15771198G>A	uc001awi.1	+	5	614	c.591G>A	c.(589-591)aaG>aaA	p.K197K	CTRC_uc001awj.1_Intron	NM_007272	NP_009203	Q99895	CTRC_HUMAN	Homo sapiens chymotrypsin C (caldecrin) (CTRC), mRNA.	197	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		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)		TCAGGGTGAAGAAAACCATGG	0.602000														82			32		0	0	1	0	0
KAL1	3730	broad.mit.edu	37	X	8565122	8565122	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:8565122G>A	uc004csf.3	-	3	644	c.494C>T	c.(493-495)tCg>tTg	p.S165L		NM_000216	NP_000207	P23352	KALM_HUMAN	Homo sapiens Kallmann syndrome 1 sequence (KAL1), mRNA.	165	WAP.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						ACACCCATTCGAACAACATTT	0.522000														29			27		0	0	1	0	0
KLF15	28999	broad.mit.edu	37	3	126071118	126071118	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:126071118G>A	uc011bkk.1	-	1	830	c.648C>T	c.(646-648)ccC>ccT	p.P216P		NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN	Homo sapiens Kruppel-like factor 15 (KLF15), mRNA.	216						nucleus	DNA binding|zinc ion binding	p.G215D(1)		endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		ACACTGGGATGGGGCCATCAG	0.677000														25			13		0	0	1	0	0
BMP10	27302	broad.mit.edu	37	2	69098400	69098400	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:69098400G>A	uc002sez.1	-	0	250	c.91C>T	c.(91-93)Cct>Tct	p.P31S		NM_014482	NP_055297	O95393	BMP10_HUMAN	Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA.	31					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						TCTTCCAGAGGAGACTGCTCT	0.502000														57			19		0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12144532	12144532	+	Silent	SNP	C	T	T	rs146787215		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:12144532C>T	uc001atq.3	+	1	297	c.75C>T	c.(73-75)ttC>ttT	p.F25F	TNFRSF8_uc010obc.2_Intron	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	25					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		ATCGACCCTTCGAGGACACCT	0.612000														116			54		0	0	1	0	0
KRTAP13-4	284827	broad.mit.edu	37	21	31802664	31802664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:31802664C>T	uc011acw.2	+	0	71	c.71C>T	c.(70-72)tCc>tTc	p.S24F		NM_181600	NP_853631	Q3LI77	KR134_HUMAN	Homo sapiens keratin associated protein 13-4 (KRTAP13-4), mRNA.	24						intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						TACCCAGGCTCCTACCCCAGC	0.582000														142			50		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249284	20249284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:20249284C>T	uc010tku.2	+	0	803	c.803C>T	c.(802-804)tCc>tTc	p.S268F		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(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)		GACTCATTTTCCCTAGATAAA	0.418000														136			36		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541558	55541558	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:55541558C>T	uc010ril.2	+	0	645	c.645C>T	c.(643-645)atC>atT	p.I215I		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCCTAATTATCATTCTGACAT	0.438000														41			19		0	0	1	0	0
HSD17B8	7923	broad.mit.edu	37	6	33173925	33173925	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:33173925C>T	uc003odi.1	+	6	693	c.666C>T	c.(664-666)atC>atT	p.I222I	MIR219-1_uc003odj.1_5'Flank|RING1_uc011dqw.1_5'Flank|RING1_uc011dqx.1_5'Flank|RING1_uc003odk.3_5'Flank	NM_014234	NP_055049	Q92506	DHB8_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 8 (HSD17B8), mRNA.	222					estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9					NADH(DB00157)	CTGAAATGATCCCGATGGGAC	0.458000														104			34		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71535268	71535268	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:71535268C>T	uc002atb.1	+	3	824	c.745C>T	c.(745-747)Cat>Tat	p.H249Y	THSD4_uc002atd.1_5'UTR	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	249	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACCTTTGACCCATGATCAAGG	0.577000														66			17		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131848931	131848931	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:131848931G>A	uc003vra.4	-	23	4699	c.4470C>T	c.(4468-4470)ctC>ctT	p.L1490L		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1490						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						GCTGGCGGATGAGCTTGTCCT	0.607000														68			20		0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126132962	126132962	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:126132962C>T	uc004bnx.1	+	6	1722	c.1630C>T	c.(1630-1632)Ctc>Ttc	p.L544F	CRB2_uc004bnw.1_Missense_Mutation_p.L544F	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	544	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CCCTGCCCGGCTCTGTGTGGC	0.667000														131			55		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589169	140589169	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140589169G>A	uc003liz.3	+	0	879	c.690G>A	c.(688-690)gtG>gtA	p.V230V	PCDHB12_uc011dak.2_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	230	Cadherin 2.				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)			TGGTCAGGGTGGTGGTTGTAG	0.532000														104			76		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57572248	57572248	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:57572248G>A	uc001snd.3	+	26	4934	c.4468G>A	c.(4468-4470)Gag>Aag	p.E1490K		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1490					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)	GTACGGGGGGGAGGTCTACTG	0.592000														130			36		0	0	1	0	0
SLC25A47	283600	broad.mit.edu	37	14	100795908	100795908	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:100795908G>A	uc001yhc.3	+	5	926	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	SLC25A47_uc001yhd.3_Missense_Mutation_p.A139T	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	Homo sapiens solute carrier family 25, member 47 (SLC25A47), nuclear gene encoding mitochondrial protein, mRNA.	285					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.A285T(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						TTGCTGCCGCGCCTTCCCTGT	0.652000														187			99		0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3753955	3753955	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:3753955G>A	uc001aky.2	-	8	1379	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	CEP104_uc010nzm.1_Non-coding_Transcript|CEP104_uc001akz.3_Silent_p.F340F	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	340						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TTTCCTGAAGGAAAGGTTCTG	0.478000														70			24		0	0	1	0	0
RNH1	6050	broad.mit.edu	37	11	502132	502132	+	Nonsense_Mutation	SNP	G	A	A	rs71462090		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:502132G>A	uc001lpk.1	-	0	1439	c.31C>T	c.(31-33)Cag>Tag	p.Q11*	RNH1_uc001lpl.1_Nonsense_Mutation_p.Q11*|RNH1_uc001lpm.1_Nonsense_Mutation_p.Q11*|RNH1_uc001lpn.1_Nonsense_Mutation_p.Q11*|RNH1_uc001lpo.1_Nonsense_Mutation_p.Q11*|RNH1_uc001lpp.2_Nonsense_Mutation_p.Q11*|RNH1_uc001lpq.2_Nonsense_Mutation_p.Q11*|RNH1_uc001lpr.2_Nonsense_Mutation_p.Q11*|RNH1_uc001lps.2_Nonsense_Mutation_p.Q11*|RNH1_uc009ybx.2_Nonsense_Mutation_p.Q11*	NM_203389	NP_976323	P13489	RINI_HUMAN	Homo sapiens ribonuclease/angiogenin inhibitor 1 (RNH1), transcript variant 8, mRNA.	11	2 X 5 AA tandem repeats of S-L-D-I-Q.				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCTCACACTGGATGTCCAGG	0.627000														32			5		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62290342	62290342	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:62290342G>A	uc001ntl.3	-	4	11847	c.11547C>T	c.(11545-11547)atC>atT	p.I3849I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	3849					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTGGGCCTTCGATATTCACAT	0.493000														188			158		0	0	1	0	0
FAM3B	54097	broad.mit.edu	37	21	42694869	42694869	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:42694869C>T	uc002yzb.1	+	1	185	c.39C>T	c.(37-39)ttC>ttT	p.F13F	FAM3B_uc002yza.2_Non-coding_Transcript|FAM3B_uc002yzc.1_Intron|FAM3B_uc011aeq.2_Silent_p.F27F	NM_058186	NP_478066	P58499	FAM3B_HUMAN	Homo sapiens family with sequence similarity 3, member B (FAM3B), transcript variant 1, mRNA.	13					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				AGGTGGTGTTCGTGGTCTTCG	0.627000														113			35		0	0	1	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088615	65088616	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:65088615_65088616CT>TA	uc021qli.1	+	0	246_247	c.246_247CT>TA	c.(244-249)cccttc>ccTAtc	p.F83I	CDC42EP2_uc001odl.3_Missense_Mutation_p.F83I	NM_006779	NP_006770	O14613	BORG1_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 2 (CDC42EP2), mRNA.	83					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						TCGACCTCCCCTTCCAGTTCAC	0.644000														55			45		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78784740	78784740	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:78784740G>A	uc004akc.2	+	12	2278	c.1740G>A	c.(1738-1740)agG>agA	p.R580R	PCSK5_uc004ajy.2_Silent_p.R580R|PCSK5_uc004ajz.3_Silent_p.R580R|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	580	Homo B/P.				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						CTCAGCTAAGGAACTTTAAGA	0.423000														82			20		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43227353	43227353	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:43227353C>A	uc003ouq.1	+	11	1612	c.1333C>A	c.(1333-1335)Cca>Aca	p.P445T		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	445						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)			CCCCACAACCCCAGTCCGTTC	0.672000														26			4		1	1	1	1	0
CES5A	221223	broad.mit.edu	37	16	55905641	55905641	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:55905641G>A	uc021tir.1	-	3	546	c.400C>T	c.(400-402)Caa>Taa	p.Q134*	CES5A_uc002eip.2_Nonsense_Mutation_p.Q105*|CES5A_uc002eio.2_Nonsense_Mutation_p.Q105*|CES5A_uc002eiq.2_5'UTR|CES5A_uc002eir.2_5'UTR	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	105						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						AGCATATGTTGATCTAAGAGC	0.512000														43			6		0	0	1	0	0
ENTPD1	953	broad.mit.edu	37	10	97625967	97625967	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:97625967T>C	uc010qoj.2	+	9	1459	c.1396T>C	c.(1396-1398)Tac>Cac	p.Y466H	ENTPD1_uc001kli.4_Missense_Mutation_p.Y461H|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_Missense_Mutation_p.Y346H|ENTPD1_uc010qol.2_Missense_Mutation_p.Y346H|ENTPD1_uc001klh.4_Missense_Mutation_p.Y454H|ENTPD1_uc010qom.2_Missense_Mutation_p.Y413H|ENTPD1_uc010qon.2_Missense_Mutation_p.Y316H|ENTPD1_uc009xva.3_Missense_Mutation_p.Y316H	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.	454					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GACTTTGGGCTACATGCTGAA	0.522000														29			16		0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16407881	16407881	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:16407881G>A	uc002wpg.2	-	14	1639	c.1480C>T	c.(1480-1482)Cat>Tat	p.H494Y	KIF16B_uc010gch.2_Missense_Mutation_p.H494Y|KIF16B_uc010gci.2_Missense_Mutation_p.H494Y|KIF16B_uc010gcj.2_Missense_Mutation_p.H494Y	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	494	FHA.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.L493L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCAAGGCCATGAAGAACTAAA	0.398000														41			24		0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132203454	132203454	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:132203454C>T	uc003eor.3	+	28	3270	c.3205C>T	c.(3205-3207)Cgg>Tgg	p.R1069W		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	1069							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TGCCATCATTCGGCCTCTACC	0.358000														80			64		0	0	1	0	0
MAT1A	4143	broad.mit.edu	37	10	82034872	82034872	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:82034872C>T	uc001kbw.3	-	6	1107	c.852G>A	c.(850-852)ggG>ggA	p.G284G		NM_000429	NP_000420	Q00266	METK1_HUMAN	Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA.	284					S-adenosylmethionine biosynthetic process|methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGTAGTCCTTCCCAGAGAAGG	0.607000														11			14		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71025993	71025993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:71025993C>T	uc002ezr.3	-	23	3916	c.3765G>A	c.(3763-3765)atG>atA	p.M1255I		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1255										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)				CATTTAAATCCATCTCGGGGG	0.453000														69			9		0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	168155141	168155141	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:168155141G>A	uc011cjq.1	-	0	277	c.220C>T	c.(220-222)Cga>Tga	p.R74*	SPOCK3_uc021xuf.1_Nonsense_Mutation_p.R62*|SPOCK3_uc011cjr.1_5'UTR|SPOCK3_uc003iri.1_Nonsense_Mutation_p.R62*|SPOCK3_uc011cjs.1_5'UTR|SPOCK3_uc003irj.1_Nonsense_Mutation_p.R62*|SPOCK3_uc011cjt.1_5'UTR|SPOCK3_uc011cjp.2_Nonsense_Mutation_p.R62*|SPOCK3_uc011cju.1_Silent_p.S22S|SPOCK3_uc011cjv.1_Nonsense_Mutation_p.R62*|SPOCK3_uc003irk.4_Nonsense_Mutation_p.R62*|SPOCK3_uc011cjw.1_Non-coding_Transcript	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	62					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CTTACGTCTCGGAATTTGTTC	0.632000														85			14		0	0	1	0	0
SLC25A13	10165	broad.mit.edu	37	7	95822397	95822397	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:95822397G>A	uc003uog.4	-	5	758	c.567C>T	c.(565-567)acC>acT	p.T189T	SLC25A13_uc003uof.4_Silent_p.T189T|SLC25A13_uc011kik.2_Silent_p.T81T	NM_001160210	NP_001153682	Q9UJS0	CMC2_HUMAN	Homo sapiens solute carrier family 25, member 13 (citrin) (SLC25A13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	189	EF-hand 4.				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GGGGGCGGATGGTGACCATGA	0.458000														61			18		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10426966	10426966	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:10426966C>T	uc010coi.3	-	36	5447	c.5319G>A	c.(5317-5319)gaG>gaA	p.E1773E	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.E1773E|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.	1773					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						TCTTCAGCTCCTCAGCCATCA	0.493000														92			56		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177226312	177226312	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:177226312G>A	uc001glf.3	+	4	773	c.461_splice	c.e4-1	p.G154_splice	FAM5B_uc010pna.1_Splice_Site|FAM5B_uc001glg.3_Missense_Mutation_p.G49E	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	154						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						TTCACCATAGGAGAAGAGTCC	0.493000														64			12		0	0	1	0	0
SPANXN5	494197	broad.mit.edu	37	X	52826386	52826386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:52826386C>T	uc004drc.1	-	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001009616	NP_001009616	Q5MJ07	SPXN5_HUMAN	Homo sapiens SPANX family, member N5 (SPANXN5), mRNA.	1										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					TGGGCTTTTCCATGATTCTGG	0.473000														97			33		0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57004989	57004989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:57004989C>T	uc002eki.2	+	5	629	c.572C>T	c.(571-573)aCc>aTc	p.T191I	CETP_uc002ekj.2_Missense_Mutation_p.T191I	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	191					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						ATCTCCTTCACCCTGAAGCTG	0.587000														80			34		0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151752454	151752454	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:151752454G>A	uc009wnb.1	-	3	576	c.394C>T	c.(394-396)Ccc>Tcc	p.P132S	TDRKH_uc001eyy.2_Intron|TDRKH_uc001ezb.4_Missense_Mutation_p.P128S|TDRKH_uc001ezc.4_Intron|TDRKH_uc001eza.4_Missense_Mutation_p.P132S|TDRKH_uc001ezd.4_Missense_Mutation_p.P132S|TDRKH_uc010pdn.1_Intron	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	132	KH 2.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GATCTCTGGGGAACTGAAAGC	0.488000														96			57		0	0	1	0	0
SELV	348303	broad.mit.edu	37	19	40006639	40006639	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:40006639G>A	uc021uum.1	+	0	887	c.787G>A	c.(787-789)Gtc>Atc	p.V263I		NM_182704		P59797	SELV_HUMAN	Homo sapiens selenoprotein V (SELV), mRNA.	263					cell redox homeostasis		selenium binding			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGACAAGAGGGTCCTGATTCG	0.642000														12			5		0	0	1	0	0
ARMC1	55156	broad.mit.edu	37	8	66517710	66517710	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:66517710G>A	uc003xvl.3	-	4	784	c.529C>T	c.(529-531)Caa>Taa	p.Q177*	ARMC1_uc011leo.2_Nonsense_Mutation_p.Q75*	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	Homo sapiens armadillo repeat containing 1 (ARMC1), mRNA.	177					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			ACAGCCATTTGAAAAGTAAAG	0.328000														59			11		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005252	74005252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:74005252C>T	uc010wss.1	-	21	4328	c.4100G>A	c.(4099-4101)cGg>cAg	p.R1367Q	EVPL_uc002jqi.2_Missense_Mutation_p.R1345Q|EVPL_uc010wst.1_Missense_Mutation_p.R815Q	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1345	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTCCGCGGCCCGCCTCTTCTG	0.682000														165			74		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48451959	48451959	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:48451959C>T	uc003toq.2	+	40	12262	c.12238C>T	c.(12238-12240)Ctg>Ttg	p.L4080L	ABCA13_uc010kys.1_Silent_p.L1154L|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4080					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						GCCTTCTGTTCTGGAGGCCCA	0.363000														22			3		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79437009	79437009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:79437009G>A	uc003hlb.2	+	65	10671	c.10231G>A	c.(10231-10233)Gat>Aat	p.D3411N		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3406					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						GCCTGGCTACGATCGCCCCTT	0.552000														52			6		0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100125387	100125387	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:100125387G>A	uc003huo.2	-	8	1211	c.1117C>T	c.(1117-1119)Ctg>Ttg	p.L373L	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_Silent_p.L164L	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	0					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TAAAGTAACAGGATACAGCGG	0.318000														42			8		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113173478	113173478	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:113173478G>A	uc010mtz.3	-	36	6850	c.6513C>T	c.(6511-6513)agC>agT	p.S2171S	SVEP1_uc010mty.3_Silent_p.S97S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2171	Sushi 13.				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						CCTTGTTGCAGCTGTAAGCCA	0.532000														111			41		0	0	1	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69101771	69101771	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:69101771T>C	uc003hdw.4	-	3	393	c.257A>G	c.(256-258)cAa>cGa	p.Q86R		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	86	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						ACTGGAATTTTGAAATGCATT	0.249000														27			7		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38639247	38639247	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:38639247G>A	uc021wvo.1	-	12	2287	c.2235C>T	c.(2233-2235)ttC>ttT	p.F745F	SCN5A_uc021wvk.1_Silent_p.F745F|SCN5A_uc021wvl.1_Silent_p.F745F|SCN5A_uc021wvm.1_Silent_p.F745F|SCN5A_uc021wvn.1_Silent_p.F745F|SCN5A_uc021wvp.1_Silent_p.F745F|SCN5A_uc021wvq.1_Silent_p.F745F|SCN5A_uc021wvr.1_Silent_p.F745F|SCN5A_uc021wvs.1_Silent_p.F745F|SCN5A_uc021wvt.1_Silent_p.F745F|SCN5A_uc021wvu.1_Silent_p.F745F|SCN5A_uc021wvv.1_Silent_p.F745F|SCN5A_uc021wvj.1_Silent_p.F611F|SCN5A_uc021wvi.1_Silent_p.F611F|SCN5A_uc021wvw.1_Silent_p.F356F	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	745					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)	GCATCTCCTCGAATTCACTTG	0.562000														82			68		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196753020	196753020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:196753020C>T	uc002utj.4	-	32	5469	c.5368G>A	c.(5368-5370)Gtc>Atc	p.V1790I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1790	AAA 2 (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						GAAACAGGGACCATTCTGTCA	0.353000														34			15		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561170	11561170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:11561170G>A	uc001ash.4	+	1	259	c.121G>A	c.(121-123)Ggg>Agg	p.G41R	PTCHD2_uc001asi.1_Missense_Mutation_p.G41R	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	41					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)		ACCTGGGGCAGGGGGACAGTG	0.642000														113			34		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169578884	169578884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:169578884C>T	uc001ggi.4	-	7	1256	c.1191G>A	c.(1189-1191)atG>atA	p.M397I	SELP_uc001ggh.3_Missense_Mutation_p.M232I|SELP_uc009wvr.3_Missense_Mutation_p.M397I	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	397	Sushi 4.				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)	GAGAGCAATCCATGCTTCCGT	0.507000														39			14		0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117106061	117106061	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:117106061G>A	uc004biq.3	-	17	3819	c.3684C>T	c.(3682-3684)tcC>tcT	p.S1228S	AKNA_uc004bin.3_Silent_p.S475S|AKNA_uc004bio.3_Silent_p.S688S|AKNA_uc004bip.3_Silent_p.S1147S|AKNA_uc004bir.3_Silent_p.S1228S|AKNA_uc004bis.3_Silent_p.S1228S|AKNA_uc010mve.2_Silent_p.S1109S	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	1228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S1228Y(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CCGCCTTAGGGGACAGAACAT	0.527000														108			34		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125828946	125828946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:125828946C>T	uc003eim.1	-	19	2378	c.2188G>A	c.(2188-2190)Gag>Aag	p.E730K	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Missense_Mutation_p.E629K|ALDH1L1_uc003ein.1_Missense_Mutation_p.E265K	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	730	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.E730D(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTCCGCACCTCTTCTACCTGC	0.577000														100			80		0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136319683	136319683	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:136319683G>A	uc004cdv.4	+	23	3635	c.3191G>A	c.(3190-3192)aGt>aAt	p.S1064N	ADAMTS13_uc004cdp.4_Missense_Mutation_p.S291N|ADAMTS13_uc004cdt.1_Missense_Mutation_p.S1064N|ADAMTS13_uc004cdu.1_Missense_Mutation_p.S1033N|ADAMTS13_uc004cdw.4_Missense_Mutation_p.S1064N|ADAMTS13_uc004cdx.4_Missense_Mutation_p.S1033N|ADAMTS13_uc004cdz.4_Missense_Mutation_p.S734N|ADAMTS13_uc004cea.1_5'Flank|ADAMTS13_uc004ceb.4_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	1064	TSP type-1 7.				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)		CCCGAGGCCAGTGTCCCCTGT	0.677000														51			21		0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23344855	23344856	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:23344855_23344856CC>TT	uc001whd.3	+	4	1251_1252	c.698_699CC>TT	c.(697-699)gcc>gTT	p.A233V	LRP10_uc001whe.3_Missense_Mutation_p.A109V	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.	233	CUB 2.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CGGCGGCTGGCCGTGCGCTTCA	0.624000														134			57		0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54420789	54420789	+	Missense_Mutation	SNP	G	A	A	rs145386958	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:54420789G>A	uc003jpo.2	-	8	1234	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	CDC20B_uc003jpn.2_Missense_Mutation_p.R353C|CDC20B_uc010ivu.2_Missense_Mutation_p.R353C|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.	353										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)			TGCTTGTGGCGAAGTGTTCCA	0.522000														64			49		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976621	38976621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:38976621C>T	uc002oit.3	+	33	5456	c.5326C>T	c.(5326-5328)Cat>Tat	p.H1776Y	RYR1_uc002oiu.3_Missense_Mutation_p.H1776Y	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1776	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)	GCCCCCGCATCATTTCTCGCC	0.687000														50			46		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111789261	111789261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:111789261G>A	uc010yxk.1	+	14	1563	c.1339G>A	c.(1339-1341)Gct>Act	p.A447T	ACOXL_uc021vmm.1_Missense_Mutation_p.A300T|ACOXL_uc021vmn.1_Missense_Mutation_p.A270T	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	477					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	p.A477T(1)		kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GCACCACGTGGCTTCTCTGTC	0.493000														63			29		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87683207	87683207	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:87683207C>T	uc003ydx.3	-	3	506	c.458G>A	c.(457-459)gGa>gAa	p.G153E	CNGB3_uc010maj.3_Missense_Mutation_p.G15E	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	153					signal transduction|visual perception	integral to membrane	cGMP binding	p.G153V(2)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GGAGAGATCTCCCTCTACCAA	0.493000														215			63		0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46591825	46591825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:46591825C>T	uc009zkj.1	-	14	1826	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	SLC38A1_uc001rpb.3_Missense_Mutation_p.E381K|SLC38A1_uc001rpc.3_Missense_Mutation_p.E381K|SLC38A1_uc001rpd.3_Missense_Mutation_p.E381K|SLC38A1_uc001rpe.3_Missense_Mutation_p.E381K|SLC38A1_uc001rpa.3_Missense_Mutation_p.E381K	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	381					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)			TTAGCCAGTTCAAATAAAGAT	0.368000														43			17		0	0	1	0	0
ZIC2	7546	broad.mit.edu	37	13	100634891	100634891	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:100634891G>A	uc001von.3	+	0	866	c.573G>A	c.(571-573)tcG>tcA	p.S191S		NM_007129	NP_009060	O95409	ZIC2_HUMAN	Homo sapiens Zic family member 2 (ZIC2), mRNA.	191	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCGGGCGCTCGGAGCAATACC	0.667000														17			27		0	0	1	0	0
STK17B	9262	broad.mit.edu	37	2	197005998	197005998	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:197005998G>A	uc002utk.3	-	5	955	c.631C>T	c.(631-633)Ccc>Tcc	p.P211S	STK17B_uc010fsh.3_Missense_Mutation_p.P211S	NM_004226	NP_004217	O94768	ST17B_HUMAN	Homo sapiens serine/threonine kinase 17b (STK17B), mRNA.	211	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			GTGGTAATGGGATCATAGTTC	0.313000														25			9		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117655926	117655926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:117655926C>T	uc001twn.2	-	28	5027	c.4316G>A	c.(4315-4317)cGa>cAa	p.R1439Q	NOS1_uc021ren.1_Missense_Mutation_p.R1069Q|NOS1_uc021reo.1_Missense_Mutation_p.R1069Q|NOS1_uc001twm.2_Missense_Mutation_p.R1405Q	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1405					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)	TTCGTACGTTCGCAGGGTGAC	0.478000														413			166		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99597041	99597041	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:99597041C>T	uc010nmz.3	-	4	4384	c.2708G>A	c.(2707-2709)aGc>aAc	p.S903N	PCDH19_uc004efw.4_Missense_Mutation_p.S855N|PCDH19_uc004efx.4_Missense_Mutation_p.S856N	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	903					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						ATCCTTCAGGCTGTTGCCCTC	0.468000														76			48		0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30507442	30507442	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:30507442C>T	uc002dyi.4	+	13	1704	c.1528C>T	c.(1528-1530)Ctg>Ttg	p.L510L	ITGAL_uc002dyj.4_Silent_p.L427L|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	510					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity	p.L510P(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	AGTCTCAGAGCTGCAGGGGGA	0.562000														131			62		0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109845641	109845641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:109845641G>A	uc010sxn.1	+	8	1030	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CTACGCTAGAGATGCAATGGC	0.438000														73			29		0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113135415	113135415	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:113135415G>A	uc003ead.2	-	5	697	c.630C>T	c.(628-630)atC>atT	p.I210I	WDR52_uc003eae.2_Silent_p.I210I	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	210										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ATTCATAGATGATAATATCTG	0.318000														40			8		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692631	135692631	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:135692631C>T	uc003lbn.2	-	1	667	c.445G>A	c.(445-447)Gac>Aac	p.D149N	TRPC7_uc010jef.2_Missense_Mutation_p.D140N|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.D149N|TRPC7_uc010jei.2_Missense_Mutation_p.D149N	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	149					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.D149D(1)|p.D148D(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAGAAGTCGTCGTCGCGCAGC	0.647000														63			56		0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976476	4976476	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:4976476G>A	uc010qyt.2	-	0	468	c.468C>T	c.(466-468)ctC>ctT	p.L156L		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAGAACCAGGAGCATGCTCT	0.428000														135			12		0	0	1	0	0
ZNF177	7730	broad.mit.edu	37	19	9492219	9492219	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9492219C>T	uc021uon.1	+	5	1373	c.1212C>T	c.(1210-1212)tcC>tcT	p.S404S	ZNF177_uc002mli.3_Silent_p.S244S|ZNF177_uc002mlj.3_3'UTR|ZNF177_uc002mlk.3_Silent_p.S244S	NM_001172651	NP_001166122	Q13360	ZN177_HUMAN	Homo sapiens zinc finger protein 177 (ZNF177), transcript variant 1, mRNA.	244					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						GTGGAAAGTCCTTCAGCACAG	0.453000														122			43		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101755619	101755619	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:101755619G>A	uc001vox.1	-	25	3150	c.2961C>T	c.(2959-2961)gtC>gtT	p.V987V		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	987						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)					GGCACCGAAGGACCATTAGAA	0.443000														36			61		0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4876171	4876171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:4876171C>T	uc003snj.1	-	2	774	c.601G>A	c.(601-603)Ggg>Agg	p.G201R	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc011jwc.1_5'UTR|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	201					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CGGGCATCCCCCAGGGCCGGG	0.682000														52			9		0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58555201	58555201	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:58555201A>G	uc002env.3	-	47	7231	c.6938T>C	c.(6937-6939)aTt>aCt	p.I2313T	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.I2308T|CNOT1_uc002ent.3_Missense_Mutation_p.I251T|CNOT1_uc010vik.2_Missense_Mutation_p.I1270T	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	2313					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCTATTTACAATCAACCGTTC	0.368000														110			51		0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862892	5862892	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:5862892G>A	uc010qzq.2	-	0	236	c.236C>T	c.(235-237)aCc>aTc	p.T79I	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTGGGAATGGTGGCCGTAGA	0.453000														65			27		0	0	1	0	0
CASP10	843	broad.mit.edu	37	2	202093788	202093788	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:202093788G>A	uc002uxl.2	+	9	1966	c.1548G>A	c.(1546-1548)agG>agA	p.R516R	CASP10_uc002uxm.2_Silent_p.R473R	NM_032974	NP_116756	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 2, mRNA.	516					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CCATGCGCAGGTGGAGCAGCG	0.587000														163			55		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100685120	100685120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100685120G>A	uc003uxp.1	+	2	10476	c.10423G>A	c.(10423-10425)Gct>Act	p.A3475T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3475	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)					CAGTTCTGAGGCTAGCACCCT	0.498000														474			226		0	0	1	0	0
SEMA4F	10505	broad.mit.edu	37	2	74906751	74906751	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:74906751C>T	uc002sna.1	+	13	1839	c.1728C>T	c.(1726-1728)ccC>ccT	p.P576P	SEMA4F_uc010ffr.1_Silent_p.P188P|SEMA4F_uc002snb.1_Silent_p.P188P|SEMA4F_uc002snc.1_Silent_p.P421P	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	576					cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	p.P576P(2)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TTGAAGTTCCCGTGGCTACAG	0.547000														441			185		0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109766440	109766440	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:109766440G>A	uc011eaq.2	-	21	3189	c.2898C>T	c.(2896-2898)gcC>gcT	p.A966A	MICAL1_uc003ptj.3_Silent_p.A947A|MICAL1_uc003ptk.3_Silent_p.A947A|MICAL1_uc010kdr.3_Silent_p.A861A	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	947					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)		TCACGCCCTCGGCCTCTAGCT	0.567000														50			28		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51165511	51165511	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:51165511C>T	uc002psx.1	-	22	6216	c.6197G>A	c.(6196-6198)gGg>gAg	p.G2066E	SHANK1_uc002psw.1_Missense_Mutation_p.G1450E	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	2066					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CAAGGCTCCCCCGAGCCCCCC	0.687000														25			16		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100479699	100479699	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:100479699G>A	uc003yiv.3	+	23	3614	c.3503G>A	c.(3502-3504)gGa>gAa	p.G1168E	VPS13B_uc003yiw.3_Missense_Mutation_p.G1168E|VPS13B_uc003yiu.1_Missense_Mutation_p.G1168E|VPS13B_uc003yix.1_Missense_Mutation_p.G638E	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1168					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)			ACCCTTCTTGGAAAACAAGTG	0.443000														113			44		0	0	1	0	0
LEF1	51176	broad.mit.edu	37	4	109002741	109002742	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:109002741_109002742CC>TT	uc003hyt.2	-	6	1911	c.722_splice	c.e6+1	p.R241_splice	LEF1_uc011cfj.1_Intron|LEF1_uc011cfk.2_Intron|LEF1_uc003hyu.2_Intron|LEF1_uc003hyv.2_Intron|LEF1_uc010imb.2_Splice_Site|LEF1_uc003hyw.1_5'Flank	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	Homo sapiens lymphoid enhancer-binding factor 1 (LEF1), transcript variant 1, mRNA.	241	Pro-rich.				T-helper 1 cell differentiation|canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of DNA binding|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	cytoplasm|protein-DNA complex|transcription factor complex	C2H2 zinc finger domain binding|DNA bending activity|armadillo repeat domain binding|beta-catenin binding|caspase inhibitor activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CCTCCACCTACCTGGACATGGA	0.559000														42			8		0	0	1	0	0
C9orf86	55684	broad.mit.edu	37	9	139718065	139718065	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:139718065C>T	uc004cjj.1	+	1	676	c.219C>T	c.(217-219)atC>atT	p.I73I	C9orf86_uc004cjm.2_Silent_p.I73I|C9orf86_uc004cjh.3_Silent_p.I73I|C9orf86_uc004cji.1_Silent_p.I73I|C9orf86_uc004cjk.1_Non-coding_Transcript|C9orf86_uc004cjl.1_Non-coding_Transcript|C9orf86_uc010nbs.1_5'Flank	NM_001173988	NP_001167459	Q3YEC7	PARF_HUMAN	Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA.	73	Small GTPase-like.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding			endometrium(4)|kidney(1)|lung(4)	9	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		AGGAGTACATCCCCACACAGG	0.627000														29			23		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941340	144941340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:144941340C>T	uc003zaa.1	-	0	6095	c.6082G>A	c.(6082-6084)Gaa>Aaa	p.E2028K		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2028						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)			TAGGCTGTTTCCAGTGGGAGC	0.602000														69			12		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8665694	8665694	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:8665694C>T	uc002wnb.3	+	9	981	c.978C>T	c.(976-978)ttC>ttT	p.F326F	PLCB1_uc010zrb.1_Silent_p.F225F|PLCB1_uc002wna.3_Silent_p.F326F|PLCB1_uc002wnc.1_Silent_p.F225F	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	326	PI-PLC X-box.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.Y325F(1)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTCACTATTTCATTAATTCCT	0.413000														223			81		0	0	1	0	0
ZNF735	730291	broad.mit.edu	37	7	63680174	63680174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:63680174G>A	uc011kdn.2	+	3	745	c.745G>A	c.(745-747)Gcc>Acc	p.A249T		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										ATGTGGCAAAGCCTTTAGGTG	0.453000														9			3		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20744422	20744422	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:20744422A>T	uc010kuh.3	+	19	2650	c.2413A>T	c.(2413-2415)Att>Ttt	p.I805F	ABCB5_uc003suw.4_Missense_Mutation_p.I360F	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	360	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						TATAGCACAAATTCAAGGAGT	0.363000														69			10		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62291642	62291642	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:62291642G>A	uc001ntl.3	-	4	10547	c.10247C>T	c.(10246-10248)tCt>tTt	p.S3416F	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	3416					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCAGGCATAGAAACTTTGGG	0.403000														60			63		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189608668	189608668	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:189608668G>A	uc003fry.2	+	12	1832	c.1743G>A	c.(1741-1743)atG>atA	p.M581I	TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Missense_Mutation_p.M487I|TP63_uc003fsd.2_Intron|TP63_uc021xir.1_Intron|TP63_uc010hzd.1_Missense_Mutation_p.M402I	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	581	SAM.				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			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)		ATTACTCCATGGATGTAAGTA	0.408000										HNSCC(45;0.13)				60			20		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8630085	8630085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:8630085C>T	uc002wnb.3	+	6	586	c.583C>T	c.(583-585)Cca>Tca	p.P195S	PLCB1_uc010zrb.1_Missense_Mutation_p.P94S|PLCB1_uc010gbv.1_Missense_Mutation_p.P195S|PLCB1_uc002wmz.1_Missense_Mutation_p.P195S|PLCB1_uc002wna.3_Missense_Mutation_p.P195S|PLCB1_uc002wnc.1_Missense_Mutation_p.P94S	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	195					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTGTAGTCTTCCATCTTCAAG	0.408000														69			36		0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10776652	10776652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:10776652C>T	uc001mja.3	+	2	441	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	98					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ACAACAGGCTCGGAAAGAAAA	0.373000														129			29		0	0	1	0	0
TNP1	7141	broad.mit.edu	37	2	217724400	217724400	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:217724400G>A	uc002vgk.3	-	1	183	c.158C>T	c.(157-159)tCc>tTc	p.S53F		NM_003284	NP_003275	P09430	STP1_HUMAN	Homo sapiens transition protein 1 (during histone to protamine replacement) (TNP1), mRNA.	53					chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation	nucleosome	DNA binding	p.R52C(1)		large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCACAAGTGGGAGCGGTAATT	0.522000														92			36		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43547287	43547287	+	Silent	SNP	G	A	A	rs147967794	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:43547287G>A	uc002zag.1	+	17	3849	c.3849G>A	c.(3847-3849)acG>acA	p.T1283T	UMODL1_uc002zad.1_Silent_p.T1083T|UMODL1_uc002zae.1_Silent_p.T1211T|UMODL1_uc002zaf.1_Silent_p.T1155T|UMODL1_uc002zal.1_Silent_p.T105T|UMODL1_uc010gpa.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	1155						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	p.T1083T(1)|p.T1283T(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGTCCTGACGGAGTGCTGGG	0.567000														120			30		0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99670730	99670731	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:99670730_99670731CC>AT	uc002bup.3	+	4	2282_2283	c.2162_2163CC>AT	c.(2161-2163)gcc>gAT	p.A721D	SYNM_uc002buo.3_Missense_Mutation_p.A721D|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	722	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GGCAAGTCAGCCGAGCAGATGA	0.515000														48			23		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119978661	119978661	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:119978661G>A	uc010inb.3	+	4	3554	c.3358G>A	c.(3358-3360)Gat>Aat	p.D1120N	SYNPO2_uc011cgh.2_Silent_p.P121P|SYNPO2_uc010inc.3_Missense_Mutation_p.D990N	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	774						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TAAACCAACCGATGGACTAGA	0.488000														79			45		0	0	1	0	0
PIK3R2	5296	broad.mit.edu	37	19	18273314	18273314	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:18273314C>T	uc002nia.1	+	8	1619	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	369	SH2 1.				T cell costimulation|T cell receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CGCTGACCCTCAGGTGGGGGC	0.587000														48			44		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161017842	161017842	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:161017842C>T	uc001fxl.3	-	11	3315	c.2969G>A	c.(2968-2970)aGg>aAg	p.R990K	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Missense_Mutation_p.R779K|ARHGAP30_uc001fxm.3_Missense_Mutation_p.R836K|ARHGAP30_uc009wtx.3_Missense_Mutation_p.R663K	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	990					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)			ACCCCCATTCCTCCAAGAGGA	0.597000														148			99		0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95610105	95610105	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:95610105G>A	uc004asu.1	-	4	1113	c.964C>T	c.(964-966)Cct>Tct	p.P322S	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.P324S|ZNF484_uc004asv.1_Missense_Mutation_p.P286S|ZNF484_uc010mrb.1_Missense_Mutation_p.P286S	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	322					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						CCCTCATAAGGAGTTTTCTGA	0.423000														94			39		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1046382	1046382	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:1046382C>T	uc002lqw.4	+	12	1830	c.1599C>T	c.(1597-1599)ccC>ccT	p.P533P	ABCA7_uc010dsb.1_Silent_p.P395P	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	533					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)		AGCAGATGCCCTATCCGTGCT	0.706000														391			158		0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21926205	21926205	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:21926205C>T	uc001rff.3	-	1	684	c.346G>A	c.(346-348)Gag>Aag	p.E116K		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	116						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	ACAGTGGACTCCAAACCACTT	0.463000														191			82		0	0	1	0	0
SFXN3	81855	broad.mit.edu	37	10	102795274	102795274	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:102795274G>A	uc010qpx.2	+	2	354	c.194G>A	c.(193-195)gGg>gAg	p.G65E	SFXN3_uc001ksp.3_Missense_Mutation_p.G65E	NM_030971	NP_112233	Q9BWM7	SFXN3_HUMAN	Homo sapiens sideroflexin 3 (SFXN3), mRNA.	65					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GTGACCCCAGGGATCACCGAG	0.642000														41			39		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20696539	20696539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:20696539C>T	uc002dhm.1	-	1	447	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.V127M	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	127					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CCCACAGCCACCAGCCACCAC	0.577000														75			7		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70841804	70841804	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:70841804G>A	uc002ezr.3	-	85	15193	c.15042C>T	c.(15040-15042)atC>atT	p.I5014I	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.	5015										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)				CAAAGAGGGGGATGATATACT	0.542000														101			36		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38663892	38663892	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:38663892C>T	uc021wvo.1	-	3	534	c.482_splice	c.e3+1	p.E161_splice	SCN5A_uc021wvk.1_Splice_Site_p.E161_splice|SCN5A_uc021wvl.1_Splice_Site_p.E161_splice|SCN5A_uc021wvm.1_Splice_Site_p.E161_splice|SCN5A_uc021wvn.1_Splice_Site_p.E161_splice|SCN5A_uc021wvp.1_Splice_Site_p.E161_splice|SCN5A_uc021wvq.1_Splice_Site_p.E161_splice|SCN5A_uc021wvr.1_Splice_Site_p.E161_splice|SCN5A_uc021wvs.1_Splice_Site_p.E161_splice|SCN5A_uc021wvt.1_Splice_Site_p.E161_splice|SCN5A_uc021wvu.1_Splice_Site_p.E161_splice|SCN5A_uc021wvv.1_Splice_Site_p.E161_splice|SCN5A_uc021wvj.1_Splice_Site_p.E27_splice|SCN5A_uc021wvi.1_Splice_Site_p.E27_splice|SCN5A_uc010hhl.1_Splice_Site_p.E27_splice	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	161			E -> K (in BRS1 and PFHB1A).		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)	GATACTCACTCGACATACTTG	0.587000														33			8		0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790669	4790669	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:4790669G>A	uc010qyl.2	-	0	479	c.479C>T	c.(478-480)cCa>cTa	p.P160L		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	160						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)		CAAAAGTAGTGGCAATATTAG	0.403000														94			13		0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56085842	56085842	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:56085842C>T	uc010rjf.2	+	0	60	c.60C>T	c.(58-60)atC>atT	p.I20I		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I20I(2)		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)					TCACAGATATCGCTGAGCTGC	0.433000														46			32		0	0	1	0	0
CTXN3	613212	broad.mit.edu	37	5	126993429	126993430	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:126993429_126993430GA>AC	uc003kul.4	+	2	790_791	c.216_217GA>AC	c.(214-219)gagaaa>gaACaa	p.K73Q	CTXN3_uc003kum.4_Missense_Mutation_p.K73Q|CTXN3_uc021yde.1_Missense_Mutation_p.K73Q	NM_001048252	NP_001120857	Q4LDR2	CTXN3_HUMAN	Homo sapiens cortexin 3 (CTXN3), transcript variant 1, mRNA.	73						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		AAGGCCTGGAGAAAGGGCAGTT	0.500000														34			16		0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39159100	39159100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:39159100C>T	uc003oon.3	-	4	1430	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	356					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GACACCTCTTCCAAGGTGGGC	0.667000														85			28		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346885	48346885	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:48346885T>A	uc010rhv.2	+	0	393	c.393T>A	c.(391-393)ttT>ttA	p.F131L		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	104					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						GAGCTCATTTTTTGGGAGGTG	0.468000														297			20		0	0	1	0	0
ARID3B	10620	broad.mit.edu	37	15	74865502	74865502	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:74865502G>A	uc002aye.3	+	3	855	c.654G>A	c.(652-654)agG>agA	p.R218R	ARID3B_uc002ayc.3_Silent_p.R218R|ARID3B_uc002ayd.3_Silent_p.R218R	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.	218	ARID.|Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						ATCCTGAAAGGAAAGAGTTCC	0.438000														225			71		0	0	1	0	0
IMPACT	55364	broad.mit.edu	37	18	22023054	22023054	+	Missense_Mutation	SNP	C	T	T	rs141355151		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:22023054C>T	uc002kvh.4	+	6	644	c.532C>T	c.(532-534)Cct>Tct	p.P178S	IMPACT_uc002kvg.4_Missense_Mutation_p.P160S	NM_018439	NP_060909	Q9P2X3	IMPCT_HUMAN	Homo sapiens Impact homolog (mouse) (IMPACT), mRNA.	178										endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					TCATGGCATTCCTATTACAGA	0.348000														91			66		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183673086	183673086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:183673086G>A	uc003ivd.1	+	18	3838	c.3763G>A	c.(3763-3765)Gaa>Aaa	p.E1255K	ODZ3_uc003ive.1_Missense_Mutation_p.E668K	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1255					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)		TAAAAATGCAGAAGTCGTCGC	0.537000														68			16		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24835165	24835165	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:24835165C>T	uc001iru.4	+	20	6147	c.5744C>T	c.(5743-5745)aCc>aTc	p.T1915I	KIAA1217_uc001irs.3_Missense_Mutation_p.T1236I|KIAA1217_uc001irt.4_Missense_Mutation_p.T1281I|KIAA1217_uc010qcy.2_Missense_Mutation_p.T1346I|KIAA1217_uc010qcz.2_Missense_Mutation_p.T1321I|KIAA1217_uc001irw.3_3'UTR|KIAA1217_uc001irz.3_3'UTR|KIAA1217_uc001irx.3_3'UTR|KIAA1217_uc001iry.3_3'UTR	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1915					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						GGCACCAGGACCATCCATACT	0.527000														50			25		0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83333168	83333168	+	Missense_Mutation	SNP	C	T	T	rs34200105		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:83333168C>T	uc010uoi.2	-	18	2389	c.2212G>A	c.(2212-2214)Gac>Aac	p.D738N	AP3B2_uc010uoh.2_Missense_Mutation_p.D719N|AP3B2_uc010uoj.2_Missense_Mutation_p.D687N|AP3B2_uc010bmp.3_5'Flank|AP3B2_uc010uog.2_Missense_Mutation_p.D355N|DQ601936_uc002biy.1_5'Flank	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	719	Glu/Ser-rich.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TCTTCATTGTCGGACTCACTG	0.572000														89			36		0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95078256	95078256	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:95078256G>A	uc022bjx.1	-	6	988	c.651C>T	c.(649-651)ccC>ccT	p.P217P	NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Silent_p.P149P	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	217					DNA replication|positive regulation of cell growth	nucleolus	RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TTATCTTCTTGGGAGGGCCAT	0.488000														40			18		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3240606	3240606	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:3240606C>T	uc021xkv.1	+	65	9261	c.9116C>T	c.(9115-9117)tCc>tTc	p.S3039F		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	3039					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)		GTCATGCTGTCCCTCTCCAAC	0.652000														27			8		0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94248644	94248644	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:94248644C>T	uc003kkx.2	-	8	1388	c.1388G>A	c.(1387-1389)aGa>aAa	p.R463K	MCTP1_uc003kkv.2_Missense_Mutation_p.R242K|MCTP1_uc003kkw.2_Missense_Mutation_p.R196K|MCTP1_uc003kkz.2_Missense_Mutation_p.R124K|MCTP1_uc003kku.2_5'UTR	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	463	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		ATGCGATTTTCTGTGTAGGTC	0.438000														111			48		0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50134468	50134468	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:50134468C>A	uc010njr.2	-	10	1855	c.1811G>T	c.(1810-1812)aGa>aTa	p.R604I		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	604	DAGKc.				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)					CTGCTCCACTCTGTTGAGGAT	0.527000														69			54		7.50695e-29	7.60177e-29	1	1	0
TTF2	8458	broad.mit.edu	37	1	117618836	117618836	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:117618836C>T	uc001egy.3	+	5	1330	c.1310C>T	c.(1309-1311)cCa>cTa	p.P437L	TTF2_uc001egx.1_Missense_Mutation_p.P437L	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	437					RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	p.L436F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CAGGCTCTTCCAGACAAGGGT	0.448000														125			39		0	0	1	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96993861	96993861	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:96993861A>G	uc002svy.3	+	0	1927	c.1516A>G	c.(1516-1518)Aat>Gat	p.N506D	ITPRIPL1_uc002svx.3_Missense_Mutation_p.N498D|ITPRIPL1_uc010yuk.2_Missense_Mutation_p.N490D|ITPRIPL1_uc010yul.2_Missense_Mutation_p.N490D	NM_178495	NP_001156996	Q6GPH6	IPIL1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 1 (ITPRIPL1), transcript variant 1, mRNA.	498						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CATTGGTAACAATTTTCTGCC	0.532000														113			77		0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563461	75563461	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:75563461G>A	uc002fej.1	-	4	1161	c.840C>T	c.(838-840)atC>atT	p.I280I	CHST5_uc002fei.3_Silent_p.I274I|CHST5_uc021tlk.1_Silent_p.I274I	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	274					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CGGCCTCGGCGATGCGCACGT	0.716000														88			45		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645725	51645725	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:51645725C>T	uc002pvv.1	+	0	168	c.99C>T	c.(97-99)tcC>tcT	p.S33S	SIGLEC7_uc002pvw.1_Silent_p.S33S|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Silent_p.S33S	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	33					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)		TGCAGAGTTCCGTGACCGTGC	0.582000														52			29		0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206648315	206648315	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:206648315C>T	uc001hdz.2	+	4	914	c.336C>T	c.(334-336)ttC>ttT	p.F112F	IKBKE_uc009xbu.2_Silent_p.F112F|IKBKE_uc001hea.2_Silent_p.F27F|IKBKE_uc009xbv.2_Silent_p.F112F	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	112	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					AGGATGAGTTCCTGGTGGTGC	0.632000														92			37		0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2415968	2415968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:2415968G>A	uc001aji.1	+	4	998	c.724G>A	c.(724-726)Gac>Aac	p.D242N	PLCH2_uc010nyz.2_Missense_Mutation_p.D31N|PLCH2_uc009vle.1_Missense_Mutation_p.D31N|PLCH2_uc001ajj.1_Missense_Mutation_p.D31N|PLCH2_uc001ajk.1_Missense_Mutation_p.D31N	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	243					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			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)		CACCCGCCGGGACCTCTACCT	0.597000														50			21		0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1552673	1552673	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:1552673C>A	uc002cly.3	+	13	1972	c.1681C>A	c.(1681-1683)Ctg>Atg	p.L561M		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	561						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CAAGGTGCTTCTGCATCTGGA	0.672000														182			90		3.57987e-33	3.62956e-33	1	1	0
PCSK5	5125	broad.mit.edu	37	9	78784642	78784642	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:78784642G>A	uc004akc.2	+	12	2180	c.1642G>A	c.(1642-1644)Gga>Aga	p.G548R	PCSK5_uc004ajy.2_Missense_Mutation_p.G548R|PCSK5_uc004ajz.3_Missense_Mutation_p.G548R|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	548	Homo B/P.				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						CTCCATGGAAGGATTCAAAAA	0.418000														74			21		0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166991034	166991034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:166991034C>T	uc001gdy.1	+	11	1318	c.1247C>T	c.(1246-1248)tCa>tTa	p.S416L	MAEL_uc021peh.1_Missense_Mutation_p.S360L|MAEL_uc001gdz.1_Missense_Mutation_p.S385L|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	416					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						TGTGACACTTCACTCTCACCT	0.413000														66			33		0	0	1	0	0
TOP2A	7153	broad.mit.edu	37	17	38563094	38563094	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:38563094G>A	uc002huq.3	-	13	1886	c.1727C>T	c.(1726-1728)cCc>cTc	p.P576L	RARA_uc021txb.1_Intron	NM_001067	NP_001058	P11388	TOP2A_HUMAN	Homo sapiens topoisomerase (DNA) II alpha 170kDa (TOP2A), mRNA.	576					DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|apoptotic chromosome condensation|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|cytoplasm|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CTTTACAATGGGAGTGATAAA	0.418000														17			9		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35974178	35974178	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:35974178C>T	uc004ddj.3	+	7	1341	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	425										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						AACCTTGTTTCATGGGTGAAC	0.363000														55			35		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238266502	238266502	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:238266502C>T	uc002vwl.2	-	21	6780	c.6495G>A	c.(6493-6495)caG>caA	p.Q2165Q	COL6A3_uc002vwo.2_Silent_p.Q1959Q|COL6A3_uc010znj.1_Silent_p.Q1558Q|COL6A3_uc002vwp.1_5'Flank	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2165	Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTCCTCTCTCCTGGCTGTCTT	0.542000														354			133		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542523	28542523	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:28542523C>T	uc003nlo.3	-	2	2577	c.1959G>A	c.(1957-1959)atG>atA	p.M653I		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	653					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						GTTTCCTCTTCATTGTGCTGG	0.433000														83			45		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207789919	207789919	+	Splice_Site	SNP	G	A	A	rs55638044		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:207789919G>A	uc001hfy.3	+	33	5452	c.5312_splice	c.e33-1	p.Q1771_splice	CR1_uc001hfx.3_Splice_Site_p.Q2221_splice|CR1_uc021pij.1_Splice_Site_p.Q1771_splice	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1771	Sushi 27.				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						TTTCTTTCTAGAAATCTTTTG	0.358000														117			58		0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78526761	78526761	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:78526761C>T	uc002bdh.3	-	0	289	c.83G>A	c.(82-84)aGc>aAc	p.S28N	ACSBG1_uc010umx.2_5'UTR|ACSBG1_uc010umw.2_Missense_Mutation_p.S28N|ACSBG1_uc010umy.2_5'UTR	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	28					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	p.S28S(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GTCCTGCCGGCTCTCCTGTGG	0.567000														356			161		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52485805	52485805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:52485805G>A	uc001wzo.3	-	13	3236	c.3002C>T	c.(3001-3003)aCc>aTc	p.T1001I	NID2_uc010tqs.2_Missense_Mutation_p.T953I|NID2_uc010tqt.1_Missense_Mutation_p.T1001I|NID2_uc001wzp.3_Missense_Mutation_p.T1001I	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	1001	Thyroglobulin type-1 1.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GTGAGGCGGGGTGGAGCCAGG	0.572000														41			15		0	0	1	0	0
GSX2	170825	broad.mit.edu	37	4	54968083	54968083	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:54968083C>T	uc010igp.1	+	1	1173	c.909C>T	c.(907-909)ccC>ccT	p.P303P	PDGFRA_uc003haa.3_Intron	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	Homo sapiens GS homeobox 2 (GSX2), mRNA.	303						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			AGATTTCCCCCTTATGAGGGA	0.657000														20			11		0	0	1	0	0
SLC2A1	6513	broad.mit.edu	37	1	43396351	43396351	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:43396351C>T	uc001cik.2	-	3	987	c.462G>A	c.(460-462)ggG>ggA	p.G154G		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	154					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TGCCCAGGGCCCCACGAAGGG	0.647000														31			11		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69683824	69683824	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:69683824C>T	uc003hee.3	+	1	821	c.796C>T	c.(796-798)Cct>Tct	p.P266S	UGT2B10_uc011cam.2_Missense_Mutation_p.P182S	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	266					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TTTTAAATTTCCTCATCCATT	0.383000														66			27		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10998260	10998260	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:10998260C>T	uc002yis.1	-	10		c.1993G>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						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)		TCCTTCCACTCCCTTAGTTTC	0.388000														170			40		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43505421	43505421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:43505421G>A	uc002zag.1	+	3	502	c.502G>A	c.(502-504)Ggc>Agc	p.G168S	UMODL1_uc002zad.1_Missense_Mutation_p.G96S|UMODL1_uc002zae.1_Missense_Mutation_p.G96S|UMODL1_uc002zaf.1_Missense_Mutation_p.G168S|UMODL1_uc010gow.1_5'UTR|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_5'UTR	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	168						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGACCCTGTGGGCTCCTGGTA	0.542000														204			56		0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22864315	22864315	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:22864315T>C	uc001yuq.2	+	15	2403	c.2273T>C	c.(2272-2274)cTt>cCt	p.L758P	TUBGCP5_uc001yur.4_Missense_Mutation_p.L758P	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	758					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTGTCTTTTCTTAATGTCCAA	0.348000														109			47		0	0	1	0	0
ERO1L	30001	broad.mit.edu	37	14	53119019	53119019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:53119019G>A	uc001wzv.3	-	12	1283	c.1063C>T	c.(1063-1065)Cct>Tct	p.P355S		NM_014584	NP_055399	Q96HE7	ERO1A_HUMAN	Homo sapiens ERO1-like (S. cerevisiae) (ERO1L), mRNA.	355					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					AAATGCAAAGGAAATGACCTG	0.279000														95			32		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45152248	45152248	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:45152248A>C	uc003com.3	-	3	876	c.741T>G	c.(739-741)gaT>gaG	p.D247E	CDCP1_uc003con.3_Missense_Mutation_p.D247E	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	247						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)		TCATGAGCTCATCCTCAGGGA	0.562000														256			73		0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44149024	44149024	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:44149024C>T	uc003owt.1	+	18	1943	c.1905C>T	c.(1903-1905)ttC>ttT	p.F635F	CAPN11_uc011dvn.2_Silent_p.F289F	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	635	Domain IV.|EF-hand 1.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCTAGAGTTCAAGATCCTGT	0.512000														85			25		0	0	1	0	0
CTSL1	1514	broad.mit.edu	37	9	90343257	90343257	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:90343257C>T	uc004api.3	+	3	547	c.342C>T	c.(340-342)gcC>gcT	p.A114A	CTSL1_uc004aph.3_Silent_p.A114A|CTSL1_uc010mqh.3_Intron|CTSL1_uc004apl.3_Silent_p.A114A|CTSL1_uc004apk.3_Silent_p.A114A	NM_145918	NP_666023	P07711	CATL1_HUMAN	Homo sapiens cathepsin L1 (CTSL1), transcript variant 2, mRNA.	114					macrophage apoptosis|proteolysis	extracellular region|lysosome|nucleus	cysteine-type endopeptidase activity|histone binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)	19					Glucagon recombinant(DB00040)	TTTATGAGGCCCCCAGATCTG	0.502000														94			32		0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143994729	143994729	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:143994729G>A	uc003yxk.1	-	5	1096	c.1093C>T	c.(1093-1095)Ctg>Ttg	p.L365L		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	365					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GCCGCCCGCAGCAAGGGCAGC	0.697000									Familial Hyperaldosteronism type I					105			39		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451960	138451960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:138451960C>T	uc003ihe.4	-	0	1670	c.1283G>A	c.(1282-1284)aGa>aAa	p.R428K	PCDH18_uc003ihf.4_Missense_Mutation_p.R421K|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.R208K|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	428	Cadherin 4.				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)					ATACTCAGATCTCTTTTCTCT	0.353000														59			30		0	0	1	0	0
MOB3B	79817	broad.mit.edu	37	9	27359163	27359163	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:27359163G>A	uc003zqn.3	-	2	986	c.490C>T	c.(490-492)Cac>Tac	p.H164Y		NM_024761	NP_079037	Q86TA1	MOL2B_HUMAN	Homo sapiens MOB kinase activator 3B (MOB3B), mRNA.	164							metal ion binding|protein binding										ATATAGACGTGGACAAAGACC	0.458000														276			77		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60742190	60742190	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:60742190C>T	uc002jad.3	+	1	802	c.400C>T	c.(400-402)Ctg>Ttg	p.L134L		NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	134	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GTCCTTGCTCCTGGGGGCCCG	0.622000														100			38		0	0	1	0	0
C10orf107	219621	broad.mit.edu	37	10	63519881	63519881	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:63519881C>T	uc010qik.2	+	4	658	c.353C>T	c.(352-354)tCa>tTa	p.S118L		NM_173554	NP_775825	Q8IVU9	CJ107_HUMAN	Homo sapiens chromosome 10 open reading frame 107 (C10orf107), mRNA.	118										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					GAAGGAATCTCATTTGATATT	0.393000														16			5		0	0	1	0	0
TTC26	79989	broad.mit.edu	37	7	138874089	138874089	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:138874089C>T	uc003vus.2	+	17	1690	c.1576C>T	c.(1576-1578)Cat>Tat	p.H526Y	TTC26_uc011kqn.1_Missense_Mutation_p.P481L|TTC26_uc011kqo.1_Missense_Mutation_p.H495Y|TTC26_uc011kqp.1_Missense_Mutation_p.H421Y|TTC26_uc003vut.2_Missense_Mutation_p.H386Y|TTC26_uc011kqq.1_Missense_Mutation_p.H395Y	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA.	526							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AGAAGTGCTCCATTTACTGAG	0.378000														273			142		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697550	17697550	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:17697550C>T	uc002rcl.1	-	0	2157	c.2133G>A	c.(2131-2133)atG>atA	p.M711I	RAD51AP2_uc010exn.1_Missense_Mutation_p.M702I	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	711										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)					GAGGACAACTCATATTCTGAC	0.313000														117			16		0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505366	159505366	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:159505366C>T	uc010piw.2	-	0	432	c.432G>A	c.(430-432)ctG>ctA	p.L144L		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					ACCCACACACCAGCTGGGCAC	0.507000														68			40		0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128973962	128973962	+	Missense_Mutation	SNP	C	T	T	rs139810222		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:128973962C>T	uc001lju.1	-	0	739	c.698G>A	c.(697-699)gGg>gAg	p.G233E	DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.G233E|FAM196A_uc001ljv.1_Missense_Mutation_p.G233E|FAM196A_uc009yap.1_Missense_Mutation_p.G233E	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.	233										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTTTGGCCTCCCCCGGTCCTG	0.647000														17			21		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154175986	154175986	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:154175986C>T	uc004fmt.3	-	12	2271	c.2100G>A	c.(2098-2100)tcG>tcA	p.S700S		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	700	F5/8 type A 2.|Plastocyanin-like 4.				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	p.S700L(1)		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)	GGTTTTCCATCGACATGAAGA	0.413000														135			61		0	0	1	0	0
SYN2	6854	broad.mit.edu	37	3	12182185	12182185	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:12182185G>A	uc003bwm.3	+	4	564	c.400G>A	c.(400-402)Gat>Aat	p.D134N	SYN2_uc003bwl.1_Missense_Mutation_p.D134N	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	138					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGTCCTTGGAGATTATGATAT	0.433000														65			17		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130409177	130409177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:130409177C>T	uc004ewe.4	-	16	3566	c.3283G>A	c.(3283-3285)Gaa>Aaa	p.E1095K	IGSF1_uc004ewd.3_Missense_Mutation_p.E1090K|IGSF1_uc022cdv.1_Missense_Mutation_p.E1081K|IGSF1_uc004ewf.2_Missense_Mutation_p.E1070K	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1090	Ig-like C2-type 11.				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						TCTGGCAGTTCCCCTTGACAC	0.547000														154			100		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142562484	142562484	+	Missense_Mutation	SNP	G	A	A	rs55728646	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:142562484G>A	uc011kst.2	+	6	1713	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	EPHB6_uc011ksu.2_Missense_Mutation_p.R309Q|EPHB6_uc003wbs.3_Missense_Mutation_p.R17Q|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Missense_Mutation_p.R17Q|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	309	Cys-rich.		R -> Q.			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)					CAACCAGCACGAGGAGACAAG	0.657000														116			60		0	0	1	0	0
VN1R10P	387316	broad.mit.edu	37	6	27293169	27293169	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:27293169G>A	uc010jqt.3	+	0	630	c.108G>A	c.(106-108)atG>atA	p.M36I		NM_032030	NP_114419			SubName: Full=FKSG83 protein; SubName: Full=FKSG83, isoform CRA_a; SubName: Full=FKSG83, isoform CRA_b;																		ACCATGCAATGATATTTCAAA	0.353000														161			58		0	0	1	0	0
KCNK15	60598	broad.mit.edu	37	20	43379087	43379087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:43379087G>A	uc002xmr.3	+	1	665	c.601G>A	c.(601-603)Ggc>Agc	p.G201S		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	Homo sapiens potassium channel, subfamily K, member 15 (KCNK15), mRNA.	201						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				CACCACCATCGGCTTCGGCGA	0.647000														142			41		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137536	40137536	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:40137536C>T	uc021qgf.1	-	0	307	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	LRRC4C_uc001mxc.1_Missense_Mutation_p.E99K|LRRC4C_uc001mxd.1_Missense_Mutation_p.E99K|LRRC4C_uc001mxa.1_Missense_Mutation_p.E103K|LRRC4C_uc001mxb.1_Missense_Mutation_p.E99K	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	103					regulation of axonogenesis	integral to membrane	protein binding	p.E103*(2)|p.E103K(2)		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)				TGTAGGATTTCCAAGTGTCTC	0.468000														35			11		0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50869676	50869676	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:50869676C>T	uc003blb.2	+	11	1622	c.1200C>T	c.(1198-1200)tcC>tcT	p.S400S	PPP6R2_uc003blc.3_Silent_p.S400S|PPP6R2_uc003bky.2_Silent_p.S400S|PPP6R2_uc003bla.2_Silent_p.S401S|PPP6R2_uc003bkz.2_Silent_p.S400S|PPP6R2_uc003bld.2_5'UTR	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	400						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.L399L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CTATTCTCTCCCACGCTGCCC	0.557000														294			189		0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72537790	72537790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:72537790C>T	uc002jky.1	-	3	974	c.613G>A	c.(613-615)Gtg>Atg	p.V205M		NM_006678	NP_006669	Q08708	CLM6_HUMAN	Homo sapiens CD300c molecule (CD300C), mRNA.	205					cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						GGTCTGTTCACCCAGAGGACG	0.592000														82			36		0	0	1	0	0
FAIM2	23017	broad.mit.edu	37	12	50284486	50284486	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:50284486G>A	uc001rvj.2	-	6	690	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	FAIM2_uc001rvi.2_Silent_p.L123L	NM_012306	NP_036438	Q9BWQ8	FAIM2_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 2 (FAIM2), mRNA.	169					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						AGGAGAATCAGGTTCCAGGGG	0.592000														127			29		0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52862276	52862276	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:52862276G>A	uc003gzi.3	-	3	919	c.912C>T	c.(910-912)cgC>cgT	p.R304R		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	304						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						TGGGAGGAAGGCGGGTTTCCC	0.527000														60			32		0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58564175	58564175	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:58564175C>T	uc002ybe.3	+	8	1551	c.1240C>T	c.(1240-1242)Ctg>Ttg	p.L414L	CDH26_uc002ybf.1_5'UTR|CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	414	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GCCTGGGACCCTGTTGGGAAC	0.537000														480			182		0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128973812	128973813	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:128973812_128973813GG>AT	uc001lju.1	-	0	888_889	c.847_848CC>AT	c.(847-849)ccg>ATg	p.P283M	DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.P283M|FAM196A_uc001ljv.1_Missense_Mutation_p.P283M|FAM196A_uc009yap.1_Missense_Mutation_p.P283M	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.	283										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTCATCTGCCGGGCAGAGTGAC	0.658000														28			29		0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151366215	151366215	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:151366215T>A	uc010ntk.1	-	7	1061	c.821A>T	c.(820-822)aAa>aTa	p.K274I		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	274					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding	p.R273*(1)|p.R273Q(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTAGCCAATTTTTCGCTTGAG	0.418000														51			31		0	0	1	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834936	27834936	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:27834936C>T	uc003njx.3	-	0	424	c.372G>A	c.(370-372)aaG>aaA	p.K124K		NM_005322	NP_005313	P16401	H15_HUMAN	Homo sapiens histone cluster 1, H1b (HIST1H1B), mRNA.	124					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CGCCTGCCTTCTTGGCTTTGG	0.597000														325			119		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200948786	200948786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:200948786C>T	uc001gvs.2	-	29	4354	c.4037G>A	c.(4036-4038)gGc>gAc	p.G1346D	KIF21B_uc009wzl.2_Missense_Mutation_p.G1346D|KIF21B_uc001gvr.2_Missense_Mutation_p.G1333D|KIF21B_uc010ppn.2_Missense_Mutation_p.G1333D	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	1346					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						GTTGGGGTGGCCCTTTAGAGC	0.572000											OREG0014066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		480			134		0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122404132	122404132	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:122404132C>T	uc003efq.4	+	1	347	c.288C>T	c.(286-288)atC>atT	p.I96I		NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CAGATGAAATCGATCATGTCT	0.413000														76			22		0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25620957	25620957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:25620957G>A	uc003abp.1	+	2	175	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K		NM_000496	NP_000487	P43320	CRBB2_HUMAN	Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.	43	Beta/gamma crystallin 'Greek key' 1.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CAACCTGAAGGAAACTGGCGT	0.552000														114			37		0	0	1	0	0
FANK1	92565	broad.mit.edu	37	10	127685183	127685183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:127685183G>A	uc009yan.3	+	5	645	c.541G>A	c.(541-543)Gga>Aga	p.G181R	FANK1_uc001ljh.4_Missense_Mutation_p.G155R|FANK1_uc001lji.3_Missense_Mutation_p.G149R	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA.	155						cytoplasm|nucleus		p.L181P(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TGCCCAGAAAGGATACACCAG	0.403000														163			121		0	0	1	0	0
HAUS4	54930	broad.mit.edu	37	14	23417130	23417130	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:23417130G>A	uc001whw.3	-	6	904	c.655C>T	c.(655-657)Cag>Tag	p.Q219*	HAUS4_uc001who.3_Intron|HAUS4_uc001wht.3_Nonsense_Mutation_p.Q219*|HAUS4_uc001whu.3_Nonsense_Mutation_p.Q174*|HAUS4_uc001whv.3_Nonsense_Mutation_p.Q95*|HAUS4_uc001whq.3_Intron	NM_001166269	NP_060285	Q9H6D7	HAUS4_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 4 (HAUS4), transcript variant 1, mRNA.	219					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						TCCTTCTGCTGGCTCTTGGCA	0.557000														79			36		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872956	51872956	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:51872956G>A	uc002xwo.3	+	1	3846	c.2959G>A	c.(2959-2961)Gaa>Aaa	p.E987K	TSHZ2_uc021wex.1_Missense_Mutation_p.E984K	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	987					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)			AATAGCTGCCGAAGAGGACAC	0.502000														81			37		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160746742	160746742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:160746742C>T	uc002ubb.4	-	3	858	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	LY75-CD302_uc010fos.3_Missense_Mutation_p.E262K|LY75-CD302_uc002ubc.4_Missense_Mutation_p.E262K|LY75-CD302_uc010fot.2_Missense_Mutation_p.E262K	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	262	C-type lectin 1.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TAAGTTAATTCAGCAGCACTG	0.353000														54			18		0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19346879	19346879	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:19346879G>A	uc002zpf.1	-	17	2434	c.2214C>T	c.(2212-2214)atC>atT	p.I738I	HIRA_uc011agx.1_Silent_p.I604I|HIRA_uc010grn.1_Intron|HIRA_uc010gro.2_Silent_p.I694I|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	738	Interaction with PAX3 (By similarity).|Interaction with histone H2B.|Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CAGCAGTGAGGATCCGGCTGG	0.632000														95			30		0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73418859	73418859	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:73418859C>T	uc002avm.4	+	3	1018	c.826C>T	c.(826-828)Cct>Tct	p.P276S	NEO1_uc010ukx.2_Missense_Mutation_p.P276S|NEO1_uc010uky.2_Missense_Mutation_p.P276S|NEO1_uc002avn.4_Missense_Mutation_p.P276S|NEO1_uc010ukz.2_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	276	Ig-like C2-type 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TTCAGGACTTCCTACTCCAAC	0.433000														61			24		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150881731	150881731	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:150881731G>A	uc003eyp.3	+	7	1288	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Missense_Mutation_p.E387K|MED12L_uc003eyo.3_Missense_Mutation_p.E387K	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	387					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)			TTCCACAAATGAAAATAAGAG	0.517000														86			25		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107005328	107005328	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:107005328C>T	uc001kyi.1	+	20	3124	c.2897C>T	c.(2896-2898)tCc>tTc	p.S966F	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	966						integral to membrane	neuropeptide receptor activity	p.S966S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGCAGCATTTCCTTCACATTC	0.448000														81			59		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111397602	111397602	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:111397602G>A	uc003iab.4	+	0	374	c.32G>A	c.(31-33)aGa>aAa	p.R11K		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	11					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GGCTCTAAGAGATACTGCATT	0.438000														234			40		0	0	1	0	0
FAM216A	29902	broad.mit.edu	37	12	110925695	110925695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:110925695G>A	uc001tqu.4	+	5	1099	c.650G>A	c.(649-651)aGa>aAa	p.R217K		NM_013300	NP_037432	Q8WUB2	CL024_HUMAN	Homo sapiens chromosome 12 open reading frame 24 (C12orf24), mRNA.	217																	TCTAAAACAAGATGTAAGTCA	0.358000														133			40		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	87089343	87089343	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:87089343C>T	uc002blz.1	+	18	2738	c.2658C>T	c.(2656-2658)atC>atT	p.I886I		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	886					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.I886I(2)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CATCTACTATCCTAGAGGAGG	0.473000														27			8		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815818	23815818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:23815818C>T	uc003gqs.3	-	7	1408	c.1288G>A	c.(1288-1290)Gac>Aac	p.D430N	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	430					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TAGCACTGGTCTGAATCTGTG	0.468000														47			9		0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918844	21918844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:21918844G>A	uc001rff.3	-	2	1426	c.1088C>T	c.(1087-1089)tCc>tTc	p.S363F		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	363						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	AATAAGGATGGAAGGTTTCTC	0.453000														121			39		0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166533014	166533014	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:166533014G>A	uc002udf.3	+	5	977	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	CSRNP3_uc002udg.3_Missense_Mutation_p.E201K	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	201					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AGAAAAGCACGAACTCCGAGC	0.522000														90			45		0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7221234	7221234	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:7221234G>A	uc002gga.1	-	25	4085	c.4078C>T	c.(4078-4080)Ccg>Tcg	p.P1360S	GPS2_uc002gfw.1_5'Flank|GPS2_uc002gfx.1_5'Flank|GPS2_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_5'UTR|GPS2_uc002ggb.1_Missense_Mutation_p.P1358S	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	p.P1358S(1)|p.P1360S(1)		breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CGCTTTGGCGGAGGCATGAAA	0.612000														64			40		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197171330	197171330	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:197171330C>T	uc002utm.1	-	12	2879	c.2696G>A	c.(2695-2697)cGa>cAa	p.R899Q	HECW2_uc002utl.1_Missense_Mutation_p.R543Q	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	899	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.R899*(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						GTTCTCCCGTCGGAAATCTAG	0.488000														50			21		0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10555278	10555278	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:10555278G>A	uc003wtd.1	+	2	440	c.411G>A	c.(409-411)ctG>ctA	p.L137L	C8orf74_uc003wte.1_Non-coding_Transcript	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	Homo sapiens chromosome 8 open reading frame 74 (C8orf74), mRNA.	137										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		AGGTCGACCTGACCGTTGCCC	0.632000														273			69		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26463553	26463553	+	Silent	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:26463553T>C	uc001mqt.4	+	1	280	c.135T>C	c.(133-135)gcT>gcC	p.A45A	ANO3_uc010rdr.2_Silent_p.A29A	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	45						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AGAGCTACGCTTACTCAAAGA	0.463000														267			42		0	0	1	0	0
NPDC1	56654	broad.mit.edu	37	9	139935265	139935265	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:139935265C>T	uc004cks.2	-	3	1463	c.790_splice	c.e3+1	p.V264_splice	NPDC1_uc004ckt.2_Splice_Site_p.V186_splice	NM_015392	NP_056207	Q9NQX5	NPDC1_HUMAN	Homo sapiens neural proliferation, differentiation and control, 1 (NPDC1), mRNA.	186						integral to membrane				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CCAAGACCTACCAAGGGCGAG	0.721000														22			4		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538174	55538174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:55538174G>A	uc003xsd.1	+	3	1880	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	578					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)			AATTGTGGAGGAAGATGTAGT	0.343000														110			26		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347685	140347685	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140347685G>A	uc003lii.3	+	0	1939	c.1334G>A	c.(1333-1335)gGa>gAa	p.G445E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.G445E	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), 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)			ACAGATGGGGGAATACCGCAG	0.527000														134			72		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197097687	197097687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:197097687G>A	uc001gtu.3	-	9	3126	c.2869C>T	c.(2869-2871)Cca>Tca	p.P957S	ASPM_uc001gtv.3_Missense_Mutation_p.P957S|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	957	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCATCAAATGGTGTCTGAACA	0.393000														81			28		0	0	1	0	0
HOOK1	51361	broad.mit.edu	37	1	60314051	60314051	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:60314051G>A	uc009wad.3	+	11	1096	c.994G>A	c.(994-996)Gat>Aat	p.D332N	HOOK1_uc001czo.3_Missense_Mutation_p.D332N|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Missense_Mutation_p.D290N	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	332	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GAAGCTACAAGATCTGAATGA	0.343000														31			7		0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60678057	60678057	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:60678057C>T	uc010ddp.3	+	18	1930	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	TLK2_uc002izx.4_Silent_p.F380F|TLK2_uc002izz.4_Silent_p.F532F|TLK2_uc002jaa.4_Silent_p.F500F|TLK2_uc010wpd.2_Silent_p.F500F	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	Homo sapiens tousled-like kinase 2 (TLK2), transcript variant A, mRNA.	554	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						ATCTGGACTTCTACCTGAAAC	0.358000														42			22		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136054	40136054	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:40136054G>A	uc021qgf.1	-	0	1789	c.1789C>T	c.(1789-1791)Cac>Tac	p.H597Y	LRRC4C_uc001mxc.1_Missense_Mutation_p.H593Y|LRRC4C_uc001mxd.1_Missense_Mutation_p.H593Y|LRRC4C_uc001mxa.1_Missense_Mutation_p.H597Y|LRRC4C_uc001mxb.1_Missense_Mutation_p.H593Y	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	597					regulation of axonogenesis	integral to membrane	protein binding	p.H597N(2)		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)				GAGTTATAGTGATTTAGGTGC	0.408000														100			13		0	0	1	0	0
TMEM59L	25789	broad.mit.edu	37	19	18729191	18729191	+	Silent	SNP	G	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:18729191G>T	uc002njy.4	+	6	876	c.789G>T	c.(787-789)tcG>tcT	p.S263S		NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA.	263						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						GCAGGCGCTCGGGTCTGCCTC	0.716000														55			5		1	1	1	1	0
ACSS2	55902	broad.mit.edu	37	20	33513985	33513985	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:33513985C>T	uc010gey.2	+	16	1964	c.1843C>T	c.(1843-1845)Cac>Tac	p.H615Y	ACSS2_uc002xbc.2_Missense_Mutation_p.H507Y|ACSS2_uc010zum.1_Non-coding_Transcript|ACSS2_uc002xbd.2_Missense_Mutation_p.H602Y|ACSS2_uc002xbe.2_Missense_Mutation_p.H310Y	NM_001076552	NP_001070020	Q9NR19	ACSA_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 2 (ACSS2), transcript variant 2, mRNA.	602				V -> F (in Ref. 3; AAH12172).	ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	ATP binding|acetate-CoA ligase activity|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGTGGTGGGCCACCCTCATCC	0.562000														101			38		0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43574732	43574732	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:43574732G>A	uc001zrf.1	-	7	1096	c.1091C>T	c.(1090-1092)cCc>cTc	p.P364L		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	364					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GGTCTGCTGGGGAGTGGGGTC	0.597000														10			5		0	0	1	0	0
C14orf28	122525	broad.mit.edu	37	14	45369670	45369670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:45369670C>T	uc001wvo.3	+	1	298	c.32C>T	c.(31-33)tCa>tTa	p.S11L	C14orf28_uc001wvp.1_Missense_Mutation_p.S11L	NM_001017923	NP_001017923	Q4W4Y0	CN028_HUMAN	Homo sapiens chromosome 14 open reading frame 28 (C14orf28), mRNA.	11										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						ATCAAAGCATCAATTAAAAAT	0.328000														98			25		0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7831541	7831541	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:7831541G>A	uc010dvt.3	+	5	903	c.785_splice	c.e5-1	p.E262_splice	CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc002mih.3_Splice_Site_p.E239_splice|CLEC4M_uc010xjw.2_Splice_Site_p.E195_splice|CLEC4M_uc010dvs.3_Splice_Site_p.E238_splice|CLEC4M_uc010xjx.2_Splice_Site_p.E211_splice|CLEC4M_uc002mhz.3_Splice_Site_p.E170_splice|CLEC4M_uc002mic.3_Splice_Site_p.E234_splice|CLEC4M_uc002mia.3_Splice_Site_p.E126_splice	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	262	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TCCCCCAACAGAACGCCTGTG	0.557000														120			37		0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4534036	4534036	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:4534036C>T	uc002mas.3	-	1	104	c.51G>A	c.(49-51)caG>caA	p.Q17Q	PLIN5_uc002mat.1_Silent_p.Q17Q	NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	Homo sapiens perilipin 5 (PLIN5), mRNA.	17						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CCTGCTGGTCCTGCTCCCACA	0.607000														31			8		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38639421	38639421	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:38639421C>T	uc021wvo.1	-	12	2113	c.2061G>A	c.(2059-2061)tgG>tgA	p.W687*	SCN5A_uc021wvk.1_Nonsense_Mutation_p.W687*|SCN5A_uc021wvl.1_Nonsense_Mutation_p.W687*|SCN5A_uc021wvm.1_Nonsense_Mutation_p.W687*|SCN5A_uc021wvn.1_Nonsense_Mutation_p.W687*|SCN5A_uc021wvp.1_Nonsense_Mutation_p.W687*|SCN5A_uc021wvq.1_Nonsense_Mutation_p.W687*|SCN5A_uc021wvr.1_Nonsense_Mutation_p.W687*|SCN5A_uc021wvs.1_Nonsense_Mutation_p.W687*|SCN5A_uc021wvt.1_Nonsense_Mutation_p.W687*|SCN5A_uc021wvu.1_Nonsense_Mutation_p.W687*|SCN5A_uc021wvv.1_Nonsense_Mutation_p.W687*|SCN5A_uc021wvj.1_Nonsense_Mutation_p.W553*|SCN5A_uc021wvi.1_Nonsense_Mutation_p.W553*|SCN5A_uc021wvw.1_Nonsense_Mutation_p.W298*	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	687					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)	CGAGACGGTTCCAGCATGGTG	0.532000														98			93		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20566764	20566764	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:20566764T>A	uc002dhj.4	-	4	633	c.423A>T	c.(421-423)aaA>aaT	p.K141N	ACSM2B_uc002dhk.4_Missense_Mutation_p.K141N|ACSM2B_uc010bwf.1_Missense_Mutation_p.K141N	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	141					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGTCAGTGGATTTCATCTGGA	0.438000														85			18		0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42374582	42374582	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:42374582G>A	uc001zox.3	-	8	773	c.678C>T	c.(676-678)tcC>tcT	p.S226S		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	226					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)		CATTGCTTCTGGAGCTCTGAA	0.478000														81			38		0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172628510	172628510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:172628510C>T	uc001gis.3	+	0	326	c.169C>T	c.(169-171)Ccg>Tcg	p.P57S	FASLG_uc001git.3_Missense_Mutation_p.P57S	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	57	Poly-Pro.|Pro-rich.				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						actaccacctccgccgccgcc	0.632000														22			19		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65936603	65936603	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:65936603C>T	uc002jgf.3	+	18	6369	c.6308C>T	c.(6307-6309)tCc>tTc	p.S2103F	BPTF_uc002jge.3_Missense_Mutation_p.S2229F	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	2229					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)			CAGCCTGTCTCCACTGCAGTC	0.468000														39			15		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35945086	35945086	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:35945086C>T	uc003olm.3	-	8	1179	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	SLC26A8_uc003oll.3_Silent_p.K251K|SLC26A8_uc003oln.3_Silent_p.K356K	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	356					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTAAAATTATCTTGGGAAGAA	0.413000														126			39		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124153367	124153367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:124153367G>A	uc003ehg.3	+	16	3164	c.3037G>A	c.(3037-3039)Gaa>Aaa	p.E1013K	KALRN_uc010hrv.1_Missense_Mutation_p.E1004K|KALRN_uc003ehf.1_Missense_Mutation_p.E1013K|KALRN_uc011bjy.1_Missense_Mutation_p.E1004K|KALRN_uc003ehh.1_Missense_Mutation_p.E359K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1013					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						CAAAACTTCTGAACAGGTGAG	0.517000														54			14		0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22129679	22129679	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:22129679G>A	uc004dah.3	+	10	1376	c.1173_splice	c.e10+1	p.R391_splice	PHEX_uc011mjr.2_Splice_Site_p.R391_splice|PHEX_uc011mjs.2_Splice_Site_p.R294_splice	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	391					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						ATTCTCAAGGGTAAGTTTAAG	0.383000														90			59		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720281	140720281	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140720281C>T	uc003ljk.2	+	0	1928	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.S581S	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	582	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)			CGCCCCGCTCCGCAGAGCCCG	0.662000														149			99		0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52344192	52344192	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:52344192G>A	uc003joy.3	+	5	531	c.388_splice	c.e5-1	p.T130_splice	ITGA2_uc011cqa.2_Splice_Site|ITGA2_uc011cqb.2_Splice_Site|ITGA2_uc011cqc.2_Splice_Site_p.T54_splice|ITGA2_uc011cqd.2_Splice_Site|ITGA2_uc011cqe.2_Splice_Site	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	130					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)				TTTCTTTGAAGACATGTGGTC	0.418000														28			27		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12416001	12416001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:12416001C>T	uc001atv.3	+	47	9866	c.9725C>T	c.(9724-9726)cCa>cTa	p.P3242L	VPS13D_uc001atw.3_Missense_Mutation_p.P3217L|VPS13D_uc001atx.3_Missense_Mutation_p.P2429L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3241					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)		TTGCTCATTCCACCTGGAACC	0.443000														86			28		0	0	1	0	0
CAMLG	819	broad.mit.edu	37	5	134076939	134076939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:134076939C>T	uc003kzt.3	+	1	500	c.359C>T	c.(358-360)cCa>cTa	p.P120L	CAMLG_uc003kzu.3_Intron	NM_001745	NP_001736	P49069	CAMLG_HUMAN	Homo sapiens calcium modulating ligand (CAMLG), mRNA.	120					defense response	endoplasmic reticulum|integral to membrane				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	TTCATTAAACCACCTGAGTGC	0.572000														69			41		0	0	1	0	0
CAPS2	84698	broad.mit.edu	37	12	75683520	75683520	+	Missense_Mutation	SNP	G	A	A	rs144198119		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:75683520G>A	uc001sxl.3	-	13	1305	c.1276C>T	c.(1276-1278)Cgt>Tgt	p.R426C	CAPS2_uc001sxm.3_Missense_Mutation_p.R213C|CAPS2_uc009zsa.2_Missense_Mutation_p.R35C|CAPS2_uc001sxi.4_Missense_Mutation_p.R181C|CAPS2_uc001sxj.4_Missense_Mutation_p.R356C|CAPS2_uc001sxk.4_Missense_Mutation_p.R445C	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	Homo sapiens calcyphosine 2 (CAPS2), mRNA.	445							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GTCAAAATACGAACACCTCTT	0.333000														84			21		0	0	1	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114098849	114098849	+	Silent	SNP	G	A	A	rs138609269		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:114098849G>A	uc001vtq.1	-	1	357	c.270C>T	c.(268-270)atC>atT	p.I90I	ADPRHL1_uc001vtp.1_Silent_p.I8I	NM_138430	NP_954631	Q8NDY3	ARHL1_HUMAN	Homo sapiens ADP-ribosylhydrolase like 1 (ADPRHL1), transcript variant 1, mRNA.	90					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			GCTTCTCAACGATTTCCACAT	0.547000														124			207		0	0	1	0	0
AIM2	9447	broad.mit.edu	37	1	159035904	159035904	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:159035904C>T	uc001ftj.1	-	3	857	c.612G>A	c.(610-612)aaG>aaA	p.K204K		NM_004833	NP_004824	O14862	AIM2_HUMAN	Homo sapiens absent in melanoma 2 (AIM2), mRNA.	204	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		p.P203T(1)		breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TAATTATTCTCTTTGGAATGA	0.358000														105			69		0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296446	20296446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:20296446C>T	uc010tkv.2	+	0	839	c.839C>T	c.(838-840)cCt>cTt	p.P280L		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)		GTGATTTTTCCTTTGTTGAAT	0.438000														119			33		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583736	82583736	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:82583736G>A	uc003uhx.2	-	4	6822	c.6533C>T	c.(6532-6534)cCc>cTc	p.P2178L	PCLO_uc003uhv.2_Missense_Mutation_p.P2178L|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2109					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						TGTGTCAGAGGGTGGGACAGA	0.428000														47			21		0	0	1	0	0
LIPC	3990	broad.mit.edu	37	15	58830616	58830616	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:58830616C>T	uc010bga.2	+	3	781	c.173C>T	c.(172-174)aCc>aTc	p.T58I	LIPC_uc010bfz.1_Missense_Mutation_p.T58I|LIPC_uc002afa.2_Missense_Mutation_p.T58I|LIPC_uc010bgb.1_Intron|LIPC_uc010ugy.2_Missense_Mutation_p.T58I	NM_000236	NP_000227	P11150	LIPC_HUMAN	Homo sapiens lipase, hepatic (LIPC), mRNA.	58					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TTTGGAGAAACCAATCAGGGC	0.478000														276			101		0	0	1	0	0
GMPR2	51292	broad.mit.edu	37	14	24706339	24706339	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:24706339C>T	uc001wnr.3	+	5	910	c.528C>T	c.(526-528)atC>atT	p.I176I	GMPR2_uc001wnu.2_Silent_p.I140I|GMPR2_uc001wns.3_Silent_p.I176I|GMPR2_uc001wnv.3_Silent_p.I13I|GMPR2_uc010alk.1_Silent_p.I176I|GMPR2_uc001wnw.3_Silent_p.I176I|GMPR2_uc001wnx.3_Silent_p.I194I|GMPR2_uc010all.3_Silent_p.I148I|GMPR2_uc010toe.1_Silent_p.I176I	NM_001002001	NP_001002002	Q9P2T1	GMPR2_HUMAN	Homo sapiens guanosine monophosphate reductase 2 (GMPR2), transcript variant 3, mRNA.	176					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		CTGACATCATCAAAGTGGGAA	0.512000														162			48		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100086497	100086498	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100086497_100086498CC>TT	uc003uvd.1	+	3	1312_1313	c.1153_1154CC>TT	c.(1153-1155)cca>TTa	p.P385L	NYAP1_uc003uve.1_Missense_Mutation_p.P167L	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	385	Pro-rich.																GACGCCTCCCCCACCGCCTCCA	0.713000														64			27		0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101349367	101349367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:101349367G>A	uc010txj.1	-	0	1818	c.1759C>T	c.(1759-1761)Ctt>Ttt	p.L587F	MIR127_uc001yig.3_Non-coding_Transcript|MIR432_uc021sce.1_5'Flank|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	587										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GATTCAGAAAGATCATCGGAT	0.567000														96			35		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652518	121652518	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:121652518C>T	uc003vjy.3	+	11	3813	c.3418C>T	c.(3418-3420)Ctt>Ttt	p.L1140F	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1140					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGACACTTCGCTTAAACCTGT	0.413000														115			41		0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92953042	92953042	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:92953042G>A	uc001yak.3	+	13	1478	c.1455G>A	c.(1453-1455)ccG>ccA	p.P485P	SLC24A4_uc001yai.3_Silent_p.P421P|SLC24A4_uc010twm.2_Silent_p.P466P|SLC24A4_uc010auj.3_Silent_p.P357P|SLC24A4_uc010twn.2_Silent_p.P241P|SLC24A4_uc001yan.3_Silent_p.P179P	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA.	485						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TTGGGATCCCGGATGTCATCA	0.488000														47			20		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14778764	14778764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:14778764C>T	uc001rcd.3	-	20	2472	c.2335G>A	c.(2335-2337)Gta>Ata	p.V779I		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	779					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						CTTTCCTCTACCAGATGTTCC	0.438000														95			42		0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33231635	33231636	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:33231635_33231636GG>AA	uc003odm.1	-	15	1851_1852	c.1641_1642CC>TT	c.(1639-1644)gtcctc>gtTTtc	p.L548F	VPS52_uc003odn.1_Missense_Mutation_p.L359F	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.	548					protein transport	Golgi apparatus|endosome membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						GCCACTCGGAGGACAAAATTCT	0.530000														69			27		0	0	1	0	0
CEP70	80321	broad.mit.edu	37	3	138248045	138248045	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:138248045T>A	uc003esl.3	-	9	1063	c.865A>T	c.(865-867)Acc>Tcc	p.T289S	CEP70_uc011bmk.2_Missense_Mutation_p.T269S|CEP70_uc011bml.2_Missense_Mutation_p.T271S|CEP70_uc011bmm.2_Missense_Mutation_p.T137S|CEP70_uc003esm.3_Missense_Mutation_p.T289S	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	289					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TCTCACCTGGTTTCCAAATCT	0.398000														289			86		0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	39947731	39947731	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:39947731C>A	uc001rmb.2	-	9	2632	c.2206G>T	c.(2206-2208)Gaa>Taa	p.E736*		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	736					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						GTCTCATCTTCATTTTTAATT	0.318000														15			4		0.00024832	0.000249306	1	1	0
SNRPC	6631	broad.mit.edu	37	6	34738119	34738120	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:34738119_34738120CC>TT	uc003ojt.2	+	4	752_753	c.302_303CC>TT	c.(301-303)ccc>cTT	p.P101L	SNRPC_uc021yyv.1_Missense_Mutation_p.P60L|SNRPC_uc021yyw.1_Missense_Mutation_p.P122L	NM_003093	NP_003084	P09234	RU1C_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide C (SNRPC), transcript variant 1, mRNA.	101				P -> S (in Ref. 2).	spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						GGGGGCCCTCCCATGATGCCAA	0.500000														97			34		0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136507497	136507497	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:136507497C>T	uc004cel.3	+	2	664	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	219					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GGTCCAAGCTCCCAATATCCA	0.592000														52			13		0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126915578	126915579	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:126915578_126915579CC>TT	uc003eji.1	+	1	290_291	c.50_51CC>TT	c.(49-51)gcc>gTT	p.A17V						RecName: Full=Putative uncharacterized protein C3orf56;											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		GTCCGCCGTGCCTTCGAGGCCT	0.609000														29			9		0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68910481	68910481	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:68910481G>A	uc001dei.1	-	3	385	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	111					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TTCTTGCAGGGATCTGGGAAA	0.408000														92			36		0	0	1	0	0
PRKAB1	5564	broad.mit.edu	37	12	120110193	120110193	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:120110193C>T	uc009zwu.3	+	2	350	c.247C>T	c.(247-249)Cga>Tga	p.R83*	PRKAB1_uc001txg.3_Nonsense_Mutation_p.R83*	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN	Homo sapiens protein kinase, AMP-activated, beta 1 non-catalytic subunit (PRKAB1), mRNA.	83					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	AACGGTGTTTCGATGGACGGG	0.537000														231			75		0	0	1	0	0
SOCS5	9655	broad.mit.edu	37	2	46987134	46987134	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:46987134C>T	uc021vgx.1	+	0	1465	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C	SOCS5_uc002rvf.3_Missense_Mutation_p.R489C|SOCS5_uc002rvg.3_Missense_Mutation_p.R489C	NM_144949	NP_659198	O75159	SOCS5_HUMAN	Homo sapiens suppressor of cytokine signaling 5 (SOCS5), transcript variant 2, mRNA.	489	SOCS box.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of T-helper 2 cell differentiation|negative regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GTATATCTGTCGCGCGGTAAT	0.373000														65			23		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140230393	140230393	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140230393C>T	uc003lhu.2	+	0	3037	c.2313C>T	c.(2311-2313)gcC>gcT	p.A771A	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.A771A	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	808					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)			ACCTCATGGCCTTCAGCCCGG	0.577000														44			66		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129618834	129618834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:129618834G>A	uc021zfb.1	+	20	2966	c.2861G>A	c.(2860-2862)gGg>gAg	p.G954E	LAMA2_uc003qbn.3_Missense_Mutation_p.G954E|LAMA2_uc003qbo.3_Missense_Mutation_p.G954E	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	954	Laminin EGF-like 9.				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)		TGCCAGGCTGGGACCTTTGGC	0.448000														28			11		0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	36716	36716	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrGL000241.1:36716C>T	uc011mgv.2	-	0		c.160G>A								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		CCCACCTCTTCGCCTTGGTTC	0.607000														49			9		0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46900645	46900645	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:46900645C>T	uc002zhi.3	+	11	2045	c.2024C>T	c.(2023-2025)cCc>cTc	p.P675L	COL18A1_uc002zhg.3_Missense_Mutation_p.P495L	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	910	Nonhelical region 1 (NC1).				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)		CCTCCCGGACCCCCCGGTGTC	0.701000														64			27		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94067104	94067104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:94067104C>T	uc001ybv.1	+	21	3114	c.3031C>T	c.(3031-3033)Cct>Tct	p.P1011S	UNC79_uc001ybs.1_Missense_Mutation_p.P1011S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1188						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						CAAGGAATTTCCTTTTCCTAC	0.403000														52			17		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52619604	52619604	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:52619604G>A	uc001jjj.3	-	2	285	c.97C>T	c.(97-99)Cag>Tag	p.Q33*	A1CF_uc010qho.2_5'UTR|A1CF_uc010qhn.2_5'UTR|A1CF_uc009xov.3_Nonsense_Mutation_p.Q33*|A1CF_uc001jji.3_Nonsense_Mutation_p.Q33*|A1CF_uc001jjh.3_5'UTR|A1CF_uc001jjk.1_Nonsense_Mutation_p.Q33*	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	33					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						GTTCCTACCTGGACCAAGCTA	0.498000														21			16		0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186449367	186449367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:186449367G>A	uc011bsa.2	+	5	940	c.706G>A	c.(706-708)Gat>Aat	p.D236N	KNG1_uc003fqr.3_Missense_Mutation_p.D236N|KNG1_uc021xil.1_Missense_Mutation_p.D200N	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	236	Cystatin 2.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TGCATACATCGATATTCAGCT	0.368000														39			36		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10418209	10418209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:10418209C>T	uc002gmo.3	-	5	603	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	170	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.R170L(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						CTGATTCTCCCGATCTAGAAG	0.323000														78			39		0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100188396	100188396	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:100188396C>T	uc001ygo.3	+	11	1169	c.1169C>T	c.(1168-1170)cCg>cTg	p.P390L	CYP46A1_uc001ygp.3_Intron	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	390					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGCAACACCCCGCTCTTGGTG	0.637000														78			33		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484616	43484616	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:43484616G>A	uc003tid.1	+	10	2450	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	HECW1_uc011kbi.1_Silent_p.E615E	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	615					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						CCCTGGAAGAGGACAGAGAAG	0.701000														24			7		0	0	1	0	0
C19orf45	374877	broad.mit.edu	37	19	7573215	7573215	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:7573215G>A	uc002mgm.2	+	8	1558	c.1417G>A	c.(1417-1419)Ggc>Agc	p.G473S		NM_198534	NP_940936	Q8NA69	CS045_HUMAN	Homo sapiens chromosome 19 open reading frame 45 (C19orf45), mRNA.	473										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						TCCTCAGGAGGGCTTCGTGCC	0.597000														54			14		0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109780827	109780827	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:109780827G>A	uc021xqo.1	-	22	1361	c.1305C>T	c.(1303-1305)ctC>ctT	p.L435L	COL25A1_uc003hze.1_Silent_p.L435L|COL25A1_uc021xqp.1_Silent_p.L435L|COL25A1_uc003hzg.3_Silent_p.L435L|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Silent_p.L201L	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	435						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AGGCTTCGTGGAGGTTGCCGT	0.488000														22			11		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43604645	43604645	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:43604645C>T	uc001jal.3	+	5	1420	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L	RET_uc001jak.1_Silent_p.L410L|RET_uc010qez.1_Silent_p.L156L	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	410					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCTACTCCCTCTCCGTGAGCA	0.622000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					38			28		0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222428866	222428866	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:222428866G>A	uc002vmq.3	-	2	450	c.408C>T	c.(406-408)ttC>ttT	p.F136F	EPHA4_uc002vmr.2_Silent_p.F136F|EPHA4_uc010zlm.1_Silent_p.F77F	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	136						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)		TCTCTCTGATGAAACGCTCTT	0.468000														149			67		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113252033	113252033	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:113252033G>A	uc010mtz.3	-	8	2164	c.1827C>T	c.(1825-1827)ttC>ttT	p.F609F	SVEP1_uc010mua.1_Silent_p.F609F|SVEP1_uc004beu.2_Silent_p.F609F	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	609	HYR 1.				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						AAGGTGGGGTGAAAGCTGGAT	0.393000														41			9		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833467	168833467	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:168833467C>T	uc011bpj.1	-	7	2596	c.2193G>A	c.(2191-2193)aaG>aaA	p.K731K	MECOM_uc010hwk.1_Silent_p.K566K|MECOM_uc003ffj.3_Silent_p.K608K|MECOM_uc003ffi.3_Silent_p.K543K|MECOM_uc011bpi.1_Silent_p.K544K|MECOM_uc003ffn.3_Silent_p.K543K|MECOM_uc003ffk.2_Silent_p.K543K|MECOM_uc003ffl.2_Silent_p.K703K|MECOM_uc011bpk.1_Silent_p.K543K|MECOM_uc010hwn.2_Silent_p.K731K	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	53							sequence-specific DNA binding transcription factor activity	p.K543K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCTGCAGTTTCTTTACTTCAC	0.473000														79			59		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38980315	38980315	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:38980315G>A	uc021yzh.1	+	90	13725	c.13616G>A	c.(13615-13617)tGg>tAg	p.W4539*	DNAH8_uc003ooe.2_Nonsense_Mutation_p.W4322*	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						CTGGGCTTCTGGTTCACTGAA	0.443000														133			71		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447029	226447029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:226447029C>T	uc002voe.2	+	3	1071	c.896C>T	c.(895-897)cCc>cTc	p.P299L	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.P69L	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	299																	TGTGCTACTCCCACGGTGCCT	0.577000														96			41		0	0	1	0	0
SFTPB	6439	broad.mit.edu	37	2	85894911	85894911	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:85894911G>A	uc002sqj.3	-	2	222	c.122C>T	c.(121-123)tCc>tTc	p.S41F	SFTPB_uc002sqi.3_Missense_Mutation_p.S41F|SFTPB_uc002sqh.3_Missense_Mutation_p.S41F	NM_000542	NP_942140	P07988	PSPB_HUMAN	Homo sapiens surfactant protein B (SFTPB), transcript variant 1, mRNA.	29	Saposin A-type.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		p.S29F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						ACAGGCCAAGGATGAGGTGGT	0.577000														111			33		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33559866	33559866	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:33559866C>T	uc001rll.1	-	2	1232	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	SYT10_uc009zju.1_Missense_Mutation_p.R122Q	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	312	C2 1.					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)					ATGTAGTTTTCGGTTGCTTAG	0.353000														60			21		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179414159	179414159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:179414159G>A	uc001gmo.3	+	15	2005	c.1618G>A	c.(1618-1620)Gat>Aat	p.D540N	AXDND1_uc001gmn.2_Missense_Mutation_p.D328N|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Intron|AXDND1_uc021pfj.1_Missense_Mutation_p.D498N	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	540								p.D540N(2)		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						GTCAAAATACGATACTCTCAA	0.383000														137			42		0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36357122	36357122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:36357122C>T	uc002ocb.4	+	14	2067	c.1855C>T	c.(1855-1857)Cct>Tct	p.P619S	KIRREL2_uc002obz.4_Intron|KIRREL2_uc002oca.4_Intron|KIRREL2_uc002ocd.4_Missense_Mutation_p.P581S|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.	619					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)			TGGCGAAGCCCCTGGAGGAGG	0.612000														79			51		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62330129	62330129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:62330129G>A	uc001dab.3	+	19	2773	c.2659G>A	c.(2659-2661)Gag>Aag	p.E887K	INADL_uc009waf.1_Missense_Mutation_p.E887K|INADL_uc001daa.2_Missense_Mutation_p.E887K|INADL_uc001dad.3_Missense_Mutation_p.E584K|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	887					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						ACCATCCATGGAGTTGTATCC	0.423000														111			44		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81665050	81665050	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:81665050C>T	uc021ssk.1	-	1	118	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	TMC3_uc021ssj.1_Missense_Mutation_p.E40K|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.E40K	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	40						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TCCCCTGTTTCATCAGCACTA	0.448000														44			17		0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139257822	139257822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:139257822G>A	uc003vvf.4	-	14	3719	c.3448C>T	c.(3448-3450)Ccc>Tcc	p.P1150S	HIPK2_uc003vvd.4_Missense_Mutation_p.P1123S	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	1150	Autoinhibitory domain (AID).				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					AGGACCCGGGGGCCCATGCTC	0.677000														36			13		0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145416898	145416898	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:145416898C>T	uc001eni.2	+	3	1568	c.1243C>T	c.(1243-1245)Ctt>Ttt	p.L415F	HFE2_uc001enk.2_Missense_Mutation_p.L302F|HFE2_uc001enj.2_Missense_Mutation_p.L189F|HFE2_uc001enl.2_Missense_Mutation_p.L189F|HFE2_uc021oux.1_Missense_Mutation_p.L189F	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	415					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)					AGCTCCACTCCTTTCTGGGCT	0.498000														218			136		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42114441	42114441	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:42114441C>T	uc001zok.4	+	26	3354	c.3068C>T	c.(3067-3069)cCc>cTc	p.P1023L	MAPKBP1_uc010bci.3_Missense_Mutation_p.P1017L|MAPKBP1_uc010udb.2_Missense_Mutation_p.P856L|MAPKBP1_uc001zoj.4_Missense_Mutation_p.P1017L|MAPKBP1_uc010bcj.3_Missense_Mutation_p.P524L|MAPKBP1_uc010bck.3_Missense_Mutation_p.P234L|MAPKBP1_uc010bcl.3_Missense_Mutation_p.P524L	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	1023										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)		AGCACGGAGCCCCTCAGTGTG	0.627000														75			27		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220312828	220312828	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:220312828C>T	uc010fwg.3	+	3	948	c.948C>T	c.(946-948)gtC>gtT	p.V316V	SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_5'UTR|SPEG_uc002vln.1_5'UTR|SPEG_uc002vlp.1_5'Flank	NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	316	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCTCGGGTCGGGAAGCGGT	0.751000														17			9		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169188759	169188759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:169188759G>A	uc003irp.3	-	21	3305	c.3013C>T	c.(3013-3015)Cca>Tca	p.P1005S		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1005							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)		GCAGCACATGGGTGAAAATGA	0.294000														64			22		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133801645	133801645	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:133801645C>T	uc001qgx.4	-	8	1387	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	IGSF9B_uc001qgy.1_Missense_Mutation_p.E228K	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	386	Ig-like 4.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCTGTGGCCTCCTCAATTCGA	0.587000														22			12		0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52293523	52293523	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:52293523G>A	uc001ctc.4	-	6	1411	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	NRD1_uc009vzb.3_Silent_p.I58I|NRD1_uc001cte.3_Silent_p.I231I|NRD1_uc001ctd.4_Silent_p.I295I|NRD1_uc001ctf.2_Silent_p.I295I|NRD1_uc010ong.1_Non-coding_Transcript|NRD1_uc009vzc.1_Silent_p.I163I	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	294					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	p.F362S(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTAGTGGGTGGATGAAGAACT	0.353000														45			22		0	0	1	0	0
PIM3	415116	broad.mit.edu	37	22	50355389	50355389	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:50355389C>T	uc003bjb.3	+	3	999	c.546C>T	c.(544-546)tcC>tcT	p.S182S	PIM3_uc011arj.2_5'Flank	NM_001001852	NP_001001852	Q86V86	PIM3_HUMAN	Homo sapiens pim-3 oncogene (PIM3), mRNA.	182	Protein kinase.				cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		ACCTGCGCTCCGGAGAGCTCA	0.652000														49			31		0	0	1	0	0
NAPSB	256236	broad.mit.edu	37	19	50838178	50838178	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:50838178G>A	uc002prw.3	-	6	837	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	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						CCTGTATCCAGGATGGCAGCA	0.617000														27			12		0	0	1	0	0
FASTK	10922	broad.mit.edu	37	7	150776851	150776851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:150776851G>A	uc003wix.1	-	1	339	c.241C>T	c.(241-243)Cct>Tct	p.P81S	FASTK_uc003wiw.1_Intron|FASTK_uc003wiy.1_Intron|FASTK_uc003wiz.1_Missense_Mutation_p.P81S|FASTK_uc003wja.1_Missense_Mutation_p.P47S	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Homo sapiens Fas-activated serine/threonine kinase (FASTK), transcript variant 1, mRNA.	81					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		CCTTGCACAGGACCTGCACTG	0.667000														17			5		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76482006	76482006	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:76482006C>T	uc002fex.1	+	3	784	c.645C>T	c.(643-645)ttC>ttT	p.F215F	CNTNAP4_uc002feu.1_Silent_p.F211F|CNTNAP4_uc002fev.1_Silent_p.F124F|CNTNAP4_uc010chb.1_Silent_p.F187F|CNTNAP4_uc002few.2_Silent_p.F187F	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	212	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						CTTTGAAATTCAAAACCATGC	0.378000														40			22		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53566728	53566728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:53566728G>A	uc004dsp.3	-	74	11924	c.11522C>T	c.(11521-11523)cCa>cTa	p.P3841L	HUWE1_uc004dsn.3_Missense_Mutation_p.P2649L|HUWE1_uc004dsq.1_Missense_Mutation_p.P141L	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3841					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TAACTCAGGTGGTCTTTCTTC	0.522000														24			23		0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52067844	52067844	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:52067844G>A	uc001jje.3	-	9	1914	c.960C>T	c.(958-960)ttC>ttT	p.F320F	SGMS1_uc010qhk.2_Silent_p.F151F	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	326					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						AGAGAATACAGAAGATTCCAA	0.488000														41			25		0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461381	5461381	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:5461381C>T	uc003jdm.4	+	12	2156	c.1934C>T	c.(1933-1935)cCc>cTc	p.P645L		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	645										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GGCAGTAATCCCCAGTCTTCT	0.398000														98			39		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173542434	173542434	+	Silent	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:173542434T>C	uc001giz.2	-	8	1356	c.933A>G	c.(931-933)gaA>gaG	p.E311E	SLC9C2_uc009wwe.2_5'UTR|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	311					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										ATATTAAATGTTCATATACAG	0.269000														33			25		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8994510	8994510	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:8994510G>A	uc002mkp.3	-	63	41586	c.41382C>T	c.(41380-41382)acC>acT	p.T13794T	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.T611T|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13796	SEA 12.			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						TGAAGTTGAGGGTGAATAGTA	0.453000														108			33		0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56906647	56906647	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:56906647C>T	uc002ekd.4	+	7	1073	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	SLC12A3_uc010ccm.3_Silent_p.F348F|SLC12A3_uc010ccn.3_Silent_p.F347F	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	348					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)	CCATCTTCTTCCCCTCGGCCA	0.567000														107			18		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24413234	24413234	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:24413234C>T	uc001bin.4	-	14	1861	c.1698G>A	c.(1696-1698)gaG>gaA	p.E566E	MYOM3_uc001bim.4_Silent_p.E223E|MYOM3_uc001bio.3_Silent_p.E566E|MYOM3_uc001bip.1_Silent_p.E223E	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	566	Fibronectin type-III 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ACTTCTTTTTCTCCAGGTCCA	0.582000														108			55		0	0	1	0	0
DNAJC21	134218	broad.mit.edu	37	5	34936318	34936318	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:34936318G>A	uc003jjb.3	+	3	612	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	DNAJC21_uc003jjc.3_Missense_Mutation_p.E129K|DNAJC21_uc010iuu.1_Missense_Mutation_p.E13K	NM_194283	NP_919259	Q5F1R6	DJC21_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21 (DNAJC21), transcript variant 1, mRNA.	129					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TGTGTTAGAGGAAGAGGTTGA	0.328000														184			59		0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76700600	76700600	+	Silent	SNP	G	A	A	rs146656374		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:76700600G>A	uc003kfa.3	+	11	1311	c.1266G>A	c.(1264-1266)tcG>tcA	p.S422S	PDE8B_uc003kfd.3_Silent_p.S375S|PDE8B_uc003kfe.3_Silent_p.S325S|PDE8B_uc003kfb.3_Silent_p.S402S|PDE8B_uc003kfc.3_Silent_p.S422S	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	422					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	p.S422S(2)	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)		ACGTGAAATCGATATCATCTC	0.358000														108			59		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22362810	22362810	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:22362810A>T	uc002nqs.1	-	2	2027	c.1709T>A	c.(1708-1710)tTt>tAt	p.F570Y		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGATGACTTAAAAGCTTTGCC	0.388000														53			37		0	0	1	0	0
SPANXN5	494197	broad.mit.edu	37	X	52826358	52826358	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:52826358C>T	uc004drc.1	-	0	31	c.31G>A	c.(31-33)Gag>Aag	p.E11K		NM_001009616	NP_001009616	Q5MJ07	SPXN5_HUMAN	Homo sapiens SPANX family, member N5 (SPANXN5), mRNA.	11										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					TTCCTCTTCTCCCCATTGGTG	0.453000														103			35		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113168712	113168712	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:113168712G>A	uc010mtz.3	-	37	9505	c.9168C>T	c.(9166-9168)ttC>ttT	p.F3056F	SVEP1_uc010mty.3_Silent_p.F982F	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3056	Sushi 27.				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						CACAGTGGGGGAACCCAGAGC	0.488000														78			28		0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17476205	17476205	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:17476205C>T	uc002ngk.1	-	2	1109	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	357						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTGTCTCGTTCCTTCCGCAGC	0.622000														193			68		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36116914	36116914	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:36116914C>T	uc004ddk.1	+	5	832	c.646C>T	c.(646-648)Caa>Taa	p.Q216*		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	216						integral to membrane		p.A215S(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						TTTTAGTGCTCAAGGAGGATG	0.269000														5			4		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138400076	138400076	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:138400076G>A	uc002tva.1	+	19	3728	c.3728G>A	c.(3727-3729)cGa>cAa	p.R1243Q	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.P1242P(1)		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)		AGCCGGACTCGATTTATCATT	0.498000														102			42		0	0	1	0	0
IRX2	153572	broad.mit.edu	37	5	2749165	2749165	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:2749165C>T	uc003jda.3	-	3	898	c.656_splice	c.e3-1	p.G219_splice	IRX2_uc003jdb.3_Splice_Site_p.G219_splice	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	219						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GCAGGCTGATCCCTGTGGGGG	0.741000														32			11		0	0	1	0	0
TUSC2	11334	broad.mit.edu	37	3	50363596	50363596	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:50363596G>A	uc003czy.1	-	2	427	c.289C>T	c.(289-291)Ccc>Tcc	p.P97S	TUSC2_uc003czz.1_Non-coding_Transcript	NM_007275	NP_009206	O75896	TUSC2_HUMAN	Homo sapiens tumor suppressor candidate 2 (TUSC2), mRNA.	97					cell cycle|cell proliferation|cell-cell signaling		protein binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGGATGCGGGGGTGATCCAGC	0.592000														14			8		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190423983	190423983	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:190423983G>A	uc001gse.1	-	1	270	c.38C>T	c.(37-39)tCt>tTt	p.S13F	FAM5C_uc010pot.1_5'UTR	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	13						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)					AGCCATCAGAGAGAACAATTC	0.498000														42			15		0	0	1	0	0
MOAP1	64112	broad.mit.edu	37	14	93649576	93649576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:93649576C>T	uc021saw.1	-	0	1012	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	MOAP1_uc001ybj.3_Missense_Mutation_p.E338K|C14orf109_uc001ybk.4_5'Flank|C14orf109_uc010auo.3_5'Flank	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN	Homo sapiens modulator of apoptosis 1 (MOAP1), mRNA.	338					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		AGGGCCTcctcctcctcagct	0.478000														116			57		0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13339612	13339612	+	RNA	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:13339612G>A	uc003gms.3	+	0		c.4576G>A								Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene (HSP90AB2P), non-coding RNA.											kidney(3)|lung(1)	4						AGCAAGTATGGAAGCGGGACT	0.483000														21			8		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40745496	40745496	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:40745496C>T	uc001rmg.4	+	43	6658	c.6537C>T	c.(6535-6537)ctC>ctT	p.L2179L	LRRK2_uc009zjw.3_Silent_p.L1017L|LRRK2_uc001rmi.3_Silent_p.L1012L	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	2179					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)				GAGGACAGCTCTCATTTCTTG	0.388000														62			19		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167852757	167852757	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:167852757G>A	uc001ger.3	-	8	1236	c.938C>T	c.(937-939)gCc>gTc	p.A313V	ADCY10_uc010plj.2_Missense_Mutation_p.A160V|ADCY10_uc009wvk.3_Missense_Mutation_p.A221V|ADCY10_uc009wvl.3_Missense_Mutation_p.A312V|ADCY10_uc009wvm.2_Non-coding_Transcript	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	313	Guanylate cyclase 2.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding	p.A313T(1)		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						ATCCTGGATGGCTGGGCCTAT	0.443000														196			50		0	0	1	0	0
IL20RB	53833	broad.mit.edu	37	3	136714374	136714374	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:136714374C>T	uc003eri.2	+	5	1050	c.801C>T	c.(799-801)ccC>ccT	p.P267P	IL20RB_uc003erj.2_Non-coding_Transcript|IL20RB_uc010hud.2_Silent_p.P125P	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN	Homo sapiens interleukin 20 receptor beta (IL20RB), mRNA.	267						integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						CCTGTTGCCCCGTGGTGGTCC	0.522000														318			233		0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48428863	48428863	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:48428863C>T	uc001jfb.3	-	1	1451	c.1023G>A	c.(1021-1023)agG>agA	p.R341R	GDF10_uc009xnp.3_Silent_p.R340R|GDF10_uc009xnq.2_Silent_p.R341R	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	341					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.R340C(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGCCCTTCTTCCTGCGGTCTT	0.667000														33			24		0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475341	120475341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:120475341C>T	uc004bjz.3	+	2	1226	c.935C>T	c.(934-936)tCa>tTa	p.S312L	TLR4_uc004bkb.3_Missense_Mutation_p.S112L|TLR4_uc004bka.3_Missense_Mutation_p.S272L	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	312					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						AATGTTTCTTCATTTTCCCTG	0.328000														52			22		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193040314	193040314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:193040314G>A	uc011bsq.2	-	14	1724	c.1724C>T	c.(1723-1725)tCa>tTa	p.S575L		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	575					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)		TATGATGTTTGAAACTGACGT	0.323000														106			79		0	0	1	0	0
ERAL1	26284	broad.mit.edu	37	17	27183392	27183392	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:27183392C>T	uc002hcy.1	+	1	404	c.394C>T	c.(394-396)Cag>Tag	p.Q132*	ERAL1_uc002hcx.1_Nonsense_Mutation_p.Q132*|ERAL1_uc002hcz.1_Non-coding_Transcript|ERAL1_uc002hda.1_5'Flank	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Homo sapiens Era G-protein-like 1 (E. coli) (ERAL1), mRNA.	132	G.				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|rRNA binding|ribosomal small subunit binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			ACTCTCCAACCAGCTACTGGG	0.537000														208			71		0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185038965	185038965	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:185038965C>T	uc003iwc.3	-	3	764	c.622G>A	c.(622-624)Gat>Aat	p.D208N		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	208					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TTGAGGGCATCTTTCCTCTGC	0.587000														146			33		0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122361869	122361869	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:122361869G>A	uc009zxk.3	+	2	879	c.720G>A	c.(718-720)aaG>aaA	p.K240K	WDR66_uc021rfh.1_Silent_p.K240K	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	240							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TGTTTCAAAAGGATAAAAGCA	0.478000														110			43		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52536728	52536728	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:52536728A>T	uc010bff.3	-	18	2377	c.2215T>A	c.(2215-2217)Ttc>Atc	p.F739I	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	739	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GCTCTGAAGAAAATTTTGGTT	0.358000														67			31		0	0	1	0	0
VN1R5	317705	broad.mit.edu	37	1	247419942	247419942	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:247419942C>T	uc010pyu.2	+	1	566	c.566C>T	c.(565-567)cCa>cTa	p.P189L		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	190					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)			CGGCTACCCCCAGTGAAACGG	0.458000														261			159		0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10755610	10755610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:10755610C>T	uc003wtk.1	-	2	1805	c.1778G>A	c.(1777-1779)cGa>cAa	p.R593Q		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	593						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AGCTGGGTATCGCTTTCTTGG	0.517000														67			32		0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85571139	85571139	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:85571139G>A	uc002spd.3	-	8	1707	c.1516C>T	c.(1516-1518)Cca>Tca	p.P506S	RETSAT_uc010fge.3_Intron|RETSAT_uc010ysm.2_Missense_Mutation_p.P445S	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	506					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TCCAGCTGTGGGAACAGTTTC	0.552000														250			119		0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116346364	116346364	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:116346364G>A	uc004bhq.3	+	20	2881	c.2672G>A	c.(2671-2673)gGg>gAg	p.G891E	RGS3_uc004bhs.3_Missense_Mutation_p.G781E|RGS3_uc004bht.3_Missense_Mutation_p.G610E|RGS3_uc010muy.3_Intron|RGS3_uc004bhv.3_Missense_Mutation_p.G212E|RGS3_uc010muz.1_Missense_Mutation_p.G230E|RGS3_uc004bhw.3_Intron|RGS3_uc011lxh.2_Missense_Mutation_p.G212E|RGS3_uc004bhx.3_Missense_Mutation_p.G212E|RGS3_uc004bhy.1_Missense_Mutation_p.G201E|RGS3_uc004bhz.3_Missense_Mutation_p.G233E	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	891					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	p.H891H(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						gtggaggagggggaggaaggg	0.647000														54			20		0	0	1	0	0
GIPC3	126326	broad.mit.edu	37	19	3586991	3586991	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:3586991C>T	uc002lyd.4	+	3	619	c.592_splice	c.e3+1	p.D198_splice		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 3 (GIPC3), mRNA.	198										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGGGCCTTCGGTGAGGCGG	0.677000											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		31			14		0	0	1	0	0
CTSS	1520	broad.mit.edu	37	1	150724439	150724439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:150724439C>T	uc001evn.3	-	4	706	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	CTSS_uc010pcj.2_Missense_Mutation_p.E99K	NM_004079	NP_004070	P25774	CATS_HUMAN	Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.	149					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|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;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGCTGTGCTTCCAGGGCCCCC	0.478000														111			47		0	0	1	0	0
TNP2	7142	broad.mit.edu	37	16	11363116	11363116	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:11363116C>T	uc002das.3	-	0	45	c.4G>A	c.(4-6)Gac>Aac	p.D2N	RMI2_uc002daq.1_Intron	NM_005425	NP_005416	Q05952	STP2_HUMAN	Homo sapiens transition protein 2 (during histone to protamine replacement) (TNP2), mRNA.	2					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						GTCTGGGTGTCCATAGGAGGC	0.592000														93			22		0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120008991	120008992	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:120008991_120008992CC>TT	uc011muc.2	-	0	788_789	c.533_534GG>AA	c.(532-534)ggg>gAA	p.G178E		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	178										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GGGCTGCAGCCCCTGCACCCAG	0.703000														61			43		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124293432	124293432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:124293432C>T	uc001uft.4	+	17	2747	c.2722C>T	c.(2722-2724)Cat>Tat	p.H908Y	DNAH10_uc010tav.1_Missense_Mutation_p.H450Y|DNAH10_uc010taw.1_Missense_Mutation_p.H393Y	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	908	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GATCATCCTTCATCCCAACAC	0.478000														422			188		0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48414135	48414135	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:48414135G>A	uc001jfa.1	-	1	893	c.733C>T	c.(733-735)Ccc>Tcc	p.P245S		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	245					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.P245S(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GAACCTGGGGGGACACTGATG	0.572000														54			38		0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233322372	233322372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:233322372G>A	uc002vst.4	+	5	823	c.746G>A	c.(745-747)gGg>gAg	p.G249E	ALPI_uc002vsu.4_Missense_Mutation_p.G160E	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	249					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGGCTGGACGGGAAGAACCTG	0.627000														94			44		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136856	40136856	+	Silent	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:40136856C>A	uc021qgf.1	-	0	987	c.987G>T	c.(985-987)cgG>cgT	p.R329R	LRRC4C_uc001mxc.1_Silent_p.R325R|LRRC4C_uc001mxd.1_Silent_p.R325R|LRRC4C_uc001mxa.1_Silent_p.R329R|LRRC4C_uc001mxb.1_Silent_p.R325R	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	329	LRRCT.				regulation of axonogenesis	integral to membrane	protein binding	p.R329W(1)|p.R329L(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAGTGTTACACCGGGCACAAC	0.507000														40			7		5.18039e-06	5.20732e-06	1	1	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900002	112900002	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:112900002C>T	uc004bei.2	+	8	3066	c.2874C>T	c.(2872-2874)ttC>ttT	p.F958F	PALM2-AKAP2_uc004bej.4_Silent_p.F726F|PALM2-AKAP2_uc004bek.4_Silent_p.F726F|PALM2-AKAP2_uc004bel.1_Silent_p.F536F|PALM2-AKAP2_uc011lwi.2_Silent_p.F584F|PALM2-AKAP2_uc004bem.3_Silent_p.F584F|PALM2-AKAP2_uc010mtw.1_Silent_p.F544F|PALM2-AKAP2_uc011lwj.2_Silent_p.F495F|PALM2-AKAP2_uc004ben.3_Silent_p.F495F	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	495							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CCAATGATTTCAGCATGGACA	0.502000														133			38		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	100975140	100975140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:100975140C>T	uc003yjb.1	-	24	3877	c.3682G>A	c.(3682-3684)Gaa>Aaa	p.E1228K	RGS22_uc003yja.1_Missense_Mutation_p.E1047K|RGS22_uc003yjc.1_Missense_Mutation_p.E1216K|RGS22_uc022azf.1_Missense_Mutation_p.E617K	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	1228					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)			TCTAGTTCTTCTTGGATCTTA	0.313000														21			11		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124358388	124358388	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:124358388G>A	uc001lgk.1	+	25	3161	c.3055G>A	c.(3055-3057)Gat>Aat	p.D1019N	DMBT1_uc001lgl.1_Missense_Mutation_p.D1009N|DMBT1_uc001lgm.1_Missense_Mutation_p.D520N|DMBT1_uc021qaf.1_Missense_Mutation_p.D1019N|DMBT1_uc021qag.1_Missense_Mutation_p.D1009N|DMBT1_uc021qah.1_Missense_Mutation_p.D520N|DMBT1_uc009xzz.1_Missense_Mutation_p.D1019N|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1019	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.D1019N(4)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACCGTGTGCGATGACAGCTG	0.602000														364			246		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78598733	78598733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:78598733C>T	uc001syp.3	+	38	7026	c.6853C>T	c.(6853-6855)Cca>Tca	p.P2285S	NAV3_uc001syo.3_Missense_Mutation_p.P2263S|NAV3_uc010sub.2_Missense_Mutation_p.P1742S|NAV3_uc009zsf.3_Missense_Mutation_p.P1094S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	2285						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						GAAACGCACACCATGGGAAGA	0.453000										HNSCC(70;0.22)				26			4		0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72319778	72319778	+	Silent	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:72319778C>A	uc010rrc.2	-	2	408	c.162G>T	c.(160-162)ctG>ctT	p.L54L	PDE2A_uc001oso.3_Silent_p.L33L|PDE2A_uc010rra.2_Silent_p.L47L|PDE2A_uc001osn.3_Silent_p.L47L|PDE2A_uc010rrb.2_Silent_p.L45L|PDE2A_uc010rrd.2_Intron	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	54					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TGACAGAGCCCAGACTCAGCA	0.627000														68			5		0.184627	0.185021	1	1	0
KRT75	9119	broad.mit.edu	37	12	52827960	52827961	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:52827960_52827961CC>TT	uc001saj.2	-	0	150_151	c.128_129GG>AA	c.(127-129)ggg>gAA	p.G43E		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	43	Gly-rich.|Head.					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)		GGCCCCCACTCCCTGCTGCAGA	0.673000														95			31		0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47680209	47680209	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:47680209C>T	uc003oyz.1	+	5	588	c.588C>T	c.(586-588)tgC>tgT	p.C196C	GPR115_uc003oza.1_Silent_p.C139C|GPR115_uc003ozb.1_Silent_p.C139C|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	139					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GTAAGAACTGCCCCTTTGATT	0.403000														98			28		0	0	1	0	0
RPRM	56475	broad.mit.edu	37	2	154334761	154334761	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:154334761C>T	uc002tyq.1	-	0	562	c.319G>A	c.(319-321)Ggg>Agg	p.G107R		NM_019845	NP_062819	Q9NS64	RPRM_HUMAN	Homo sapiens reprimo, TP53 dependent G2 arrest mediator candidate (RPRM), mRNA.	107					cell cycle arrest	cytoplasm|integral to membrane	protein binding			large_intestine(2)|lung(1)|prostate(1)	4						CAGTAGGGCCCCACGACCACC	0.647000														26			11		0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68607869	68607869	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:68607869C>T	uc002sen.4	+	2	375	c.213C>T	c.(211-213)atC>atT	p.I71I	PLEK_uc010fde.3_Silent_p.I71I	NM_002664	NP_002655	P08567	PLEK_HUMAN	Homo sapiens pleckstrin (PLEK), mRNA.	71	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TGTTTAAGATCACTACGACCA	0.473000														124			51		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106725369	106725369	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:106725369C>T	uc021ser.1	-	927		c.22143G>A								Parts of antibodies, mostly variable regions.																		CCAGCCCCTTCCCTGGAGCCT	0.582000														358			84		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55286728	55286728	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:55286728C>T	uc010erz.1	+	3	520	c.482C>T	c.(481-483)tCc>tTc	p.S161F	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Non-coding_Transcript|KIR2DL1_uc002qhb.1_Missense_Mutation_p.S161F	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	161	Ig-like C2-type 2.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TACCATCTATCCAGGGAAGGG	0.607000														146			77		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065952	35065952	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:35065952T>C	uc003jjm.3	-	9	1667	c.1108A>G	c.(1108-1110)Aat>Gat	p.N370D	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.N269D|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	370					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)	GTGGAGGGATTGGCCTGGGGT	0.522000														60			34		0	0	1	0	0
VASN	114990	broad.mit.edu	37	16	4431686	4431686	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:4431686G>A	uc021tch.1	+	0	808	c.808G>A	c.(808-810)Gat>Aat	p.D270N	CORO7-PAM16_uc002cwe.3_Intron|CORO7-PAM16_uc002cwf.3_Intron|CORO7-PAM16_uc002cwg.4_Intron|CORO7-PAM16_uc002cwh.4_Intron|CORO7-PAM16_uc010uxh.2_Intron|CORO7-PAM16_uc010uxi.2_Intron|CORO7-PAM16_uc002cwi.1_Intron|CORO7-PAM16_uc010uxj.1_Intron|CORO7-PAM16_uc010btp.1_Intron|VASN_uc002cwj.1_Missense_Mutation_p.D270N	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN	Homo sapiens vasorin (VASN), mRNA.	270						extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						GCAGGAGCTGGATGTGAGCAA	0.726000														25			10		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20623211	20623211	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:20623211G>A	uc001mqd.3	+	2	813	c.540_splice	c.e2+1	p.Q180_splice	SLC6A5_uc009yic.3_Splice_Site	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	180					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)	TTGCCACCCAGGTAAGCAGGT	0.657000														36			6		0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145948395	145948395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:145948395G>A	uc003zdv.4	-	4	906	c.650C>T	c.(649-651)aCc>aTc	p.T217I		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	217					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)		ATATTTGAAGGTTTTGCTGCA	0.418000														100			39		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76592521	76592521	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:76592521A>T	uc002fex.1	+	22	4016	c.3877A>T	c.(3877-3879)Aaa>Taa	p.K1293*	CNTNAP4_uc002feu.1_Nonsense_Mutation_p.K1289*|CNTNAP4_uc002fev.1_Nonsense_Mutation_p.K1154*|CNTNAP4_uc010chb.1_Nonsense_Mutation_p.K1217*	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1290					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						GGCTGTTCTGAAAAGTGAGCT	0.348000														23			15		0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150324823	150324823	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:150324823C>T	uc022apv.1	-	2	1553	c.1073G>A	c.(1072-1074)gGg>gAg	p.G358E	GIMAP6_uc003whn.3_Missense_Mutation_p.G288E|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	288							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)		GTCAGCCTTCCCCAGCAGGCA	0.587000														108			34		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115337790	115337790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:115337790C>T	uc001lai.4	+	5	557	c.454C>T	c.(454-456)Cct>Tct	p.P152S	HABP2_uc021pyr.1_Missense_Mutation_p.P126S|HABP2_uc010qrz.1_Non-coding_Transcript|HABP2_uc010qry.1_Silent_p.F140F	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	152	EGF-like 3.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		CACAGTGGTTCCTGTATGCAG	0.557000														68			50		0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160766091	160766091	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:160766091C>T	uc001fwu.3	+	0	164	c.114C>T	c.(112-114)ttC>ttT	p.F38F	LY9_uc001fwt.3_Silent_p.F38F|LY9_uc010pjs.1_Silent_p.F38F|LY9_uc001fwv.3_Silent_p.F38F|LY9_uc001fww.3_Silent_p.F38F	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	38					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)			CTCTCCTCTTCCTGCTCATGG	0.493000														213			134		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160886667	160886667	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:160886667G>A	uc003lys.1	-	4	639	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Missense_Mutation_p.R141C|GABRB2_uc003lyt.1_Missense_Mutation_p.R141C|GABRB2_uc021yhg.1_Missense_Mutation_p.R78C|GABRB2_uc011dei.1_Missense_Mutation_p.R141C	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	141					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity	p.R141C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGATGCAGGCGAATCATGCGG	0.448000														33			8		0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39884213	39884213	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:39884213C>T	uc003axv.4	+	1	1100	c.861C>T	c.(859-861)atC>atT	p.I287I	MGAT3_uc010gxy.3_Silent_p.I287I	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	287					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					ACGGCTGGATCGCCGACGACT	0.647000														264			85		0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53038983	53038983	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:53038983C>T	uc001sat.3	-	8	1773	c.1740G>A	c.(1738-1740)aaG>aaA	p.K580K		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	580	Tail.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGGACCCTCCCTTAGAGCCAC	0.577000														336			131		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395876	154395876	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:154395876G>A	uc010jih.1	+	0	2617	c.2457G>A	c.(2455-2457)caG>caA	p.Q819Q		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	819	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTACAAAACAGATTGAAAGCC	0.443000														31			19		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32632636	32632636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:32632636C>T	uc003zrg.1	-	0	3032	c.2942G>A	c.(2941-2943)gGa>gAa	p.G981E	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.	981					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)		ATAGGAGAATCCTTCACCACA	0.507000														186			48		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940513	113940513	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:113940513C>T	uc002tjc.3	+	1	663	c.480C>T	c.(478-480)atC>atT	p.I160I	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.I159I|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	160					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGCAGGCATCCTGCAGGCCC	0.607000														129			40		0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35234256	35234256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:35234256G>A	uc001wsk.3	-	21	4088	c.3520C>T	c.(3520-3522)Cat>Tat	p.H1174Y	BAZ1A_uc001wsl.3_Missense_Mutation_p.H1142Y	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	1174					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CAGTAGGTATGATGACCCCTA	0.363000														58			21		0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171320910	171320910	+	Silent	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:171320910A>G	uc003fhs.3	-	26	3530	c.3183T>C	c.(3181-3183)gtT>gtC	p.V1061V	PLD1_uc003fht.3_Silent_p.V1023V	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	1061					Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.S1060Y(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTTTGGTCCCAACAGAAGGCA	0.473000														65			13		0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22574340	22574340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:22574340C>T	uc002nqt.2	-	3	1819	c.1697G>A	c.(1696-1698)aGa>aAa	p.R566K		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R566I(3)		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)				AGCACAATTTCTTTTATATTT	0.328000														9			11		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68989631	68989631	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:68989631G>A	uc003xxv.1	+	15	1597	c.1570_splice	c.e15-1	p.G524_splice	PREX2_uc003xxu.1_Splice_Site_p.G524_splice|PREX2_uc011lez.1_Splice_Site_p.G459_splice	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	524	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTGGTTAACAGGGAGATTGCC	0.443000														55			24		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54307284	54307284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:54307284C>T	uc002qcj.4	-	5	2730	c.2510G>A	c.(2509-2511)gGa>gAa	p.G837E	NLRP12_uc010eqw.3_Missense_Mutation_p.G119E|NLRP12_uc002qch.4_Missense_Mutation_p.G836E|NLRP12_uc002qci.4_Missense_Mutation_p.G836E|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.G837E	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	836					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)		CAGTGCATTTCCTGTCAGGTC	0.562000														34			32		0	0	1	0	0
LCE1B	353132	broad.mit.edu	37	1	152785112	152785112	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:152785112T>A	uc001faq.3	+	0	666	c.190T>A	c.(190-192)Tct>Act	p.S64T		NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	Homo sapiens late cornified envelope 1B (LCE1B), mRNA.	64	Gly-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)			TGGCTCCAGCTCTGGGGGTTG	0.652000														169			92		0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75269071	75269071	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:75269071G>A	uc002fdv.3	-	4	1872	c.1726C>T	c.(1726-1728)Ctg>Ttg	p.L576L	BCAR1_uc002fdt.3_Silent_p.L29L|BCAR1_uc002fdu.3_Silent_p.L366L|BCAR1_uc010vna.2_Silent_p.L574L|BCAR1_uc010cgu.3_Silent_p.L594L|BCAR1_uc010vnb.2_Silent_p.L622L|BCAR1_uc002fdw.3_Silent_p.L576L|BCAR1_uc010vnc.2_Silent_p.L428L|BCAR1_uc010vnd.2_Silent_p.L594L|BCAR1_uc002fdx.3_Silent_p.L594L	NM_014567	NP_055382	P56945	BCAR1_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA.	576	Ser-rich.				B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth	cytosol|focal adhesion|membrane fraction|ruffle	SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCCGGTCCAGGTCCTCAAGG	0.677000														40			23		0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700491	136700491	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:136700491C>T	uc003vtf.1	+	3	1502	c.879C>T	c.(877-879)gcC>gcT	p.A293A	CHRM2_uc003vtg.1_Silent_p.A293A|CHRM2_uc003vti.1_Silent_p.A293A|CHRM2_uc003vtm.1_Silent_p.A293A|CHRM2_uc003vtj.1_Silent_p.A293A|CHRM2_uc003vtk.1_Silent_p.A293A|CHRM2_uc003vtl.1_Silent_p.A293A|CHRM2_uc003vtn.1_Silent_p.A293A|CHRM2_uc003vto.1_Silent_p.A293A|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Silent_p.A293A	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	293					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)	GTGCTGTTGCCTCTAATATGA	0.473000														35			9		0	0	1	0	0
GUK1	2987	broad.mit.edu	37	1	228334618	228334618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:228334618C>T	uc021pkf.1	+	3	368	c.293C>T	c.(292-294)tCg>tTg	p.S98L	GUK1_uc021pke.1_Missense_Mutation_p.S77L|GUK1_uc001hsj.3_Missense_Mutation_p.S17L|GUK1_uc001hsh.3_Missense_Mutation_p.S77L|GUK1_uc001hsi.3_Missense_Mutation_p.S98L|GUK1_uc010pvv.2_Missense_Mutation_p.S77L|GJC2_uc001hsk.3_5'Flank	NM_001242840	NP_001229769	Q16774	KGUA_HUMAN	Homo sapiens guanylate kinase 1 (GUK1), transcript variant 5, mRNA.	77	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				GCCGAGTTCTCGGGGAACCTG	0.612000														158			44		0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106204123	106204123	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:106204123C>T	uc001yse.3	-	6	1220	c.774G>A	c.(772-774)agG>agA	p.R258R	abParts_uc021ser.1_Intron|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;																		CGATCATGTTCCTGTAGTCGG	0.647000														105			29		0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5772729	5772729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:5772729C>T	uc001iij.3	+	10	1392	c.767C>T	c.(766-768)tCt>tTt	p.S256F	FAM208B_uc001iik.3_5'Flank	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	256																	CCTTCAGAGTCTTTAACTCAG	0.443000														89			53		0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44611467	44611467	+	Missense_Mutation	SNP	C	T	T	rs138098649	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:44611467C>T	uc002oyh.2	+	5	1471	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	LOC100379224_uc002oyi.3_Non-coding_Transcript	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	Homo sapiens zinc finger protein 224 (ZNF224), mRNA.	385					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				AGATGGGCCTCGTGTCTTTTG	0.418000														57			52		0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18152389	18152389	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:18152389C>T	uc001bat.3	+	2	692	c.476C>T	c.(475-477)cCt>cTt	p.P159L		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	159						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CGCGTGCAGCCTTTCCACCAG	0.627000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		48			23		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061105	9061105	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9061105C>T	uc002mkp.3	-	2	26545	c.26341G>A	c.(26341-26343)Gga>Aga	p.G8781R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8783	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						TCTGCTGATCCTGTCGTGGTG	0.512000														80			39		0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40750911	40750911	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:40750911C>T	uc001zlu.2	+	1	319	c.248C>T	c.(247-249)cCc>cTc	p.P83L	BAHD1_uc001zlt.2_Missense_Mutation_p.P83L|BAHD1_uc010bbp.1_Missense_Mutation_p.P83L|BAHD1_uc001zlv.2_Missense_Mutation_p.P83L	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	83					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	DNA binding|chromatin binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GTGGCCGGTCCCCGGAGTGCA	0.647000														110			34		0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27875278	27875279	+	Silent	DNP	GG	AT	AT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:27875278_27875279GG>AT	uc021ojw.1	-	0	3348_3349	c.3348_3349CC>AT	c.(3346-3351)ggcctg>ggATtg	p.1116_1117GL>GL	AHDC1_uc009vsy.3_Silent_p.1116_1117GL>GL|AHDC1_uc009vsz.1_Silent_p.1116_1117GL>GL	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	1116							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCCCAGTCCAGGCCTCCATAGC	0.614000														130			37		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34851439	34851439	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:34851439C>T	uc003teh.1	+	3	570	c.442C>T	c.(442-444)Cat>Tat	p.H148Y	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.H148Y|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Missense_Mutation_p.H148Y|NPSR1_uc010kww.1_Missense_Mutation_p.H137Y|NPSR1_uc011kar.1_Intron|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	148						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	AGACAGATACCATGCCATCGT	0.483000														113			47		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137133	126137133	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:126137133C>T	uc001uhe.1	+	7	2054	c.2046C>T	c.(2044-2046)atC>atT	p.I682I	TMEM132B_uc001uhf.1_Silent_p.I194I	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	682						integral to membrane		p.I682I(4)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAAGGGCCATCGTCTCCACAG	0.607000														69			29		0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112720857	112720857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:112720857C>T	uc003kql.4	-	1	639	c.223G>A	c.(223-225)Gag>Aag	p.E75K	MCC_uc003kqk.4_Non-coding_Transcript	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	0					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TTCATGATCTCAGCCACAGAC	0.433000														66			51		0	0	1	0	0
ADAP1	11033	broad.mit.edu	37	7	959629	959629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:959629C>T	uc003sjo.4	-	3	557	c.364G>A	c.(364-366)Gag>Aag	p.E122K	ADAP1_uc011jvs.2_Missense_Mutation_p.E27K|ADAP1_uc003sjn.4_Missense_Mutation_p.E50K|ADAP1_uc010ksc.3_Missense_Mutation_p.E50K	NM_006869	NP_006860	O75689	ADAP1_HUMAN	Homo sapiens ArfGAP with dual PH domains 1 (ADAP1), mRNA.	122	Arf-GAP.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						TCCTGCTTCTCCGGGTAGATG	0.667000														36			8		0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65621279	65621280	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:65621279_65621280GG>AA	uc002aos.2	-	13	2664_2665	c.2412_2413CC>TT	c.(2410-2415)gcccgg>gcTTgg	p.R805W	IGDCC3_uc002aor.1_Missense_Mutation_p.R91W	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	805										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGGGTAACCCGGGCCGCTGCAG	0.673000														88			35		0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148769211	148769211	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:148769211C>A	uc003wfh.2	-	3	790	c.653G>T	c.(652-654)tGg>tTg	p.W218L	ZNF786_uc011kuk.1_Missense_Mutation_p.W181L|ZNF786_uc003wfi.2_Missense_Mutation_p.W132L	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GAATTTCTCCCAGGCCCTACG	0.602000														57			5		1	1	1	1	0
COL20A1	57642	broad.mit.edu	37	20	61939428	61939428	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:61939428G>A	uc011aau.2	+	6	861	c.761G>A	c.(760-762)gGg>gAg	p.G254E	COL20A1_uc011aav.2_Missense_Mutation_p.G75E	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	254	VWFA.				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)					TACAAGGGGGGGAACACGTTC	0.627000														66			13		0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131768355	131768355	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:131768355C>T	uc004bws.1	+	41	4918	c.4896C>T	c.(4894-4896)acC>acT	p.T1632T		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	1632					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			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						AGCCCCTCACCCAGGCAGTGG	0.522000											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		172			40		0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38928343	38928343	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:38928343C>T	uc002hvf.3	-	0	69	c.23G>A	c.(22-24)gGa>gAa	p.G8E		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	8	Gly-rich.|Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CCTCCTGGATCCACCAGAAAG	0.577000														133			44		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130217855	130217855	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:130217855G>A	uc004evz.3	+	3	812	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	ARHGAP36_uc004ewa.3_Missense_Mutation_p.R144Q|ARHGAP36_uc004ewb.3_Missense_Mutation_p.R125Q|ARHGAP36_uc004ewc.3_Missense_Mutation_p.R20Q	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	156	Arg-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.V155V(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						AACGTGGTGCGAAGGGTGTTT	0.617000														97			50		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167055481	167055481	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:167055481C>T	uc010fpl.3	-	26	5976	c.5635G>A	c.(5635-5637)Gat>Aat	p.D1879N	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1890						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)	GCAGACACATCCTCTTGTTTC	0.398000														205			82		0	0	1	0	0
DCDC2	51473	broad.mit.edu	37	6	24291289	24291289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:24291289C>T	uc003ndx.3	-	4	877	c.575G>A	c.(574-576)gGa>gAa	p.G192E	DCDC2_uc003ndy.3_Missense_Mutation_p.G192E	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA.	192	Doublecortin 2.				cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				AACAAGTTTTCCTTCTAAAGT	0.348000														80			27		0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964106	88964106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:88964106G>A	uc011khi.2	+	3	2348	c.1810G>A	c.(1810-1812)Gaa>Aaa	p.E604K		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	604						intracellular	zinc ion binding	p.K603N(1)		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)			CAAACTTAAGGAAGCTTCAAG	0.378000										HNSCC(36;0.09)				37			13		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84608332	84608332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:84608332C>T	uc004amn.3	+	3	2994	c.2947C>T	c.(2947-2949)Ctt>Ttt	p.L983F		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	983						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						AGTCCCCATCCTTGATCGTCC	0.493000														178			58		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7528404	7528404	+	Missense_Mutation	SNP	C	T	T	rs150856487	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:7528404C>T	uc010sge.2	-	9	2634	c.2608G>A	c.(2608-2610)Gaa>Aaa	p.E870K	CD163L1_uc001qsy.3_Missense_Mutation_p.E860K	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	860	SRCR 8.					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						TGGAACTTTTCGGCCCAAGTT	0.458000														128			31		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455308	70455308	+	Missense_Mutation	SNP	C	T	T	rs149562826		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:70455308C>T	uc011caq.2	-	6	1980	c.1864G>A	c.(1864-1866)Gat>Aat	p.D622N	UGT2A1_uc010ihu.3_Missense_Mutation_p.D456N|UGT2A1_uc003hem.4_Missense_Mutation_p.D456N|UGT2A1_uc010ihs.3_Missense_Mutation_p.D465N|UGT2A1_uc021xox.1_Missense_Mutation_p.D421N|UGT2A1_uc010iht.3_Missense_Mutation_p.D412N	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	456					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ACTGCTCGATCCAGGGGCTTT	0.438000														87			42		0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91964815	91964815	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:91964815C>T	uc004aqj.1	+	12	1943	c.1863C>T	c.(1861-1863)ttC>ttT	p.F621F	SECISBP2_uc010mqo.1_Silent_p.F326F|SECISBP2_uc004aqk.1_Silent_p.F548F|SECISBP2_uc011ltk.1_Silent_p.F620F|SECISBP2_uc011ltl.1_Silent_p.F553F	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA.	621					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						ACACCACCTTCCCTAAGATCC	0.567000														68			33		0	0	1	0	0
FAN1	22909	broad.mit.edu	37	15	31196961	31196961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:31196961C>T	uc001zff.3	+	1	386	c.95C>T	c.(94-96)tCg>tTg	p.S32L	FAN1_uc001zfc.3_Missense_Mutation_p.S32L|FAN1_uc010azw.2_Missense_Mutation_p.S32L|FAN1_uc001zfd.3_Missense_Mutation_p.S32L|FAN1_uc001zfe.3_5'UTR	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript variant 1, mRNA.	32					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TCTATTATTTCGTGTTTTAAC	0.398000								Direct reversal of damage						115			50		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127615	152127615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:152127615C>T	uc001ezs.1	-	2	2025	c.1960G>A	c.(1960-1962)Gat>Aat	p.D654N		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	654	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						TGTTGGCTATCCTCTTCAGGC	0.507000														123			44		0	0	1	0	0
TMIGD2	126259	broad.mit.edu	37	19	4294678	4294678	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:4294678C>T	uc002lzx.2	-	4	495	c.449_splice	c.e4-1	p.G150_splice	TMIGD2_uc021umz.1_Splice_Site_p.D34_splice|TMIGD2_uc021una.1_Intron|TMIGD2_uc010dtv.2_Splice_Site_p.G150_splice	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA.	150						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGAGGAATCCTGGGTAGGGG	0.642000														290			141		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77415335	77415335	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:77415335G>A	uc004ajl.1	-	16	2311	c.2073C>T	c.(2071-2073)gcC>gcT	p.A691A	TRPM6_uc004ajk.1_Silent_p.A686A|TRPM6_uc022bib.1_Silent_p.A686A|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.	691					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						ACAGCGTCATGGCCATGCGCT	0.502000														67			33		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3076318	3076318	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:3076318C>T	uc003bpc.3	+	16	2125	c.1786C>T	c.(1786-1788)Cct>Tct	p.P596S	CNTN4_uc003bpb.1_Missense_Mutation_p.P267S|CNTN4_uc021wsg.1_Missense_Mutation_p.P596S|CNTN4_uc003bpd.1_Missense_Mutation_p.P596S|CNTN4_uc003bpe.3_Missense_Mutation_p.P268S|CNTN4_uc003bpf.3_Missense_Mutation_p.P267S	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	596	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTTCCCAGGTCCTCCAGGTCC	0.522000														56			11		0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125590704	125590704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:125590704C>T	uc010inw.3	-	3	4766	c.3728G>A	c.(3727-3729)gGa>gAa	p.G1243E	ANKRD50_uc011cgo.2_Missense_Mutation_p.G1064E	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	1243	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATGACTCTGTCCTAAGGACTG	0.403000														116			53		0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67327982	67327982	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:67327982C>T	uc002esu.2	-	11	1734	c.1683G>A	c.(1681-1683)atG>atA	p.M561I	KCTD19_uc002est.2_Missense_Mutation_p.M333I|KCTD19_uc010vjj.1_Missense_Mutation_p.M304I	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	561						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CAGCCTCATCCATCTGGTTGG	0.567000														297			55		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119937890	119937890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:119937890G>A	uc001txe.3	+	5	1030	c.565G>A	c.(565-567)Ggt>Agt	p.G189S	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	189										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)		CAGGGACCCGGGTGGAAGCAA	0.423000														146			30		0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161518130	161518130	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:161518130C>T	uc003qtn.3	+	15	3588	c.3446C>T	c.(3445-3447)cCc>cTc	p.P1149L	MAP3K4_uc010kkc.1_Missense_Mutation_p.P1145L|MAP3K4_uc003qto.3_Missense_Mutation_p.P1149L|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.P602L|MAP3K4_uc003qtp.3_Missense_Mutation_p.P135L	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	1149					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)		CGGAACAGCCCCCGTCCTATG	0.448000														67			38		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72111625	72111625	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:72111625G>A	uc003xyu.3	-	17	2369	c.1729C>T	c.(1729-1731)Cac>Tac	p.H577Y	EYA1_uc003xyt.4_Missense_Mutation_p.H544Y|EYA1_uc003xyr.4_Missense_Mutation_p.H542Y|EYA1_uc010lzf.3_Missense_Mutation_p.H504Y|EYA1_uc003xys.4_Missense_Mutation_p.H577Y|EYA1_uc011lfe.2_Missense_Mutation_p.H571Y|EYA1_uc003xyv.3_Missense_Mutation_p.H455Y	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	577					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AGGTCCGAGTGGCTGGAGATC	0.587000														22			3		0	0	1	0	0
TMOD3	29766	broad.mit.edu	37	15	52194155	52194155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:52194155C>T	uc002abn.3	+	8	1229	c.946C>T	c.(946-948)Ctt>Ttt	p.L316F	TMOD3_uc010bfc.1_Non-coding_Transcript	NM_014547	NP_055362	Q9NYL9	TMOD3_HUMAN	Homo sapiens tropomodulin 3 (ubiquitous) (TMOD3), mRNA.	316						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		TACAAATATCCTTAAATTTGG	0.368000														70			32		0	0	1	0	0
MOSPD3	64598	broad.mit.edu	37	7	100212785	100212785	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100212785C>T	uc003uvq.3	+	5	889	c.687C>T	c.(685-687)acC>acT	p.T229T	MOSPD3_uc003uvr.3_Silent_p.T229T|MOSPD3_uc003uvs.3_Silent_p.T229T|MOSPD3_uc003uvt.3_Silent_p.T219T	NM_001040097	NP_076438	O75425	MSPD3_HUMAN	Homo sapiens motile sperm domain containing 3 (MOSPD3), transcript variant 2, mRNA.	229						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCCTCCTCACCATGGTGTTCC	0.622000														97			31		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33246227	33246227	+	Missense_Mutation	SNP	C	T	T	rs142311728		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:33246227C>T	uc021vft.1	+	2	840	c.817C>T	c.(817-819)Ctc>Ttc	p.L273F		NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	273					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	p.T272N(1)		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)				GACCTTAACCCTCAAGCCGAA	0.493000														113			45		0	0	1	0	0
LOC100509575	100509575	broad.mit.edu	37	X	47979002	47979002	+	RNA	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:47979002G>A	uc022bvt.1	+	6		c.625G>A				NM_001205103		B7Z813	B7Z813_HUMAN	Homo sapiens putative protein SSX6-like (LOC100509575), mRNA.						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding										CGACCCTGAGGAAGATGACAA	0.493000														297			181		0	0	1	0	0
RIT1	6016	broad.mit.edu	37	1	155874197	155874197	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:155874197G>A	uc001fmh.1	-	4	521	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C	RIT1_uc010pgr.1_Missense_Mutation_p.R76C	NM_006912	NP_008843	Q92963	RIT1_HUMAN	Homo sapiens Ras-like without CAAX 1 (RIT1), mRNA.	112					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding	p.R112C(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			TTAAACTCACGAACTTCATGG	0.463000														66			43		0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149528627	149528627	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:149528627G>A	uc010zbt.2	+	9	1418	c.1391G>A	c.(1390-1392)cGa>cAa	p.R464Q		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.	464					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ATAATGGACCGAATATCCACA	0.368000														26			10		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25418018	25418018	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:25418018T>G	uc001upr.3	+	19	2781	c.2740T>G	c.(2740-2742)Tat>Gat	p.Y914D	RNF17_uc010tdd.1_Missense_Mutation_p.Y773D|RNF17_uc010tde.2_Missense_Mutation_p.Y914D|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.Y853D|RNF17_uc010aac.3_Missense_Mutation_p.Y112D|RNF17_uc010aad.3_5'UTR	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	914					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)		TCAGTCACTTTATAATAAGGA	0.313000														37			27		0	0	1	0	0
SCMH1	22955	broad.mit.edu	37	1	41579192	41579192	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:41579192G>A	uc001cgo.3	-	7	847	c.478C>T	c.(478-480)Cca>Tca	p.P160S	SCMH1_uc010ojr.2_Intron|SCMH1_uc001cgp.3_Missense_Mutation_p.P99S|SCMH1_uc001cgr.3_Missense_Mutation_p.P99S|SCMH1_uc001cgq.3_Missense_Mutation_p.P113S|SCMH1_uc001cgs.3_Missense_Mutation_p.P170S|SCMH1_uc001cgt.3_Missense_Mutation_p.P99S|SCMH1_uc010ojs.1_Non-coding_Transcript	NM_001031694	NP_001165692	Q96GD3	SCMH1_HUMAN	Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA.	160					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				GAAGGCGATGGTGGCTCCTAG	0.438000														49			15		0	0	1	0	0
MRPL38	64978	broad.mit.edu	37	17	73898128	73898128	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:73898128C>T	uc010wso.1	-	2	580	c.355G>A	c.(355-357)Gag>Aag	p.E119K	FBF1_uc002jqa.1_Non-coding_Transcript|MRPL38_uc002jpz.1_Non-coding_Transcript	NM_032478	NP_115867	Q96DV4	RM38_HUMAN	Homo sapiens mitochondrial ribosomal protein L38 (MRPL38), nuclear gene encoding mitochondrial protein, mRNA.	119						actin cytoskeleton|mitochondrion|ribosome				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCCGCTCCTCTTCCACATTG	0.627000														42			26		0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657286	72657286	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:72657286G>A	uc003txs.1	-	12	2626	c.1698C>T	c.(1696-1698)tcC>tcT	p.S566S	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		ggccctgccaggagttttctc	0.448000														147			35		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54841850	54841850	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:54841850C>T	uc021smr.1	+	25	5832	c.5832C>T	c.(5830-5832)ttC>ttT	p.F1944F	UNC13C_uc021sms.1_Silent_p.F1946F	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1946	MHD2.				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)		AGATGATTTTCATTGCAGCTA	0.328000														89			32		0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88390364	88390364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:88390364C>T	uc001tam.1	-	4	517	c.349G>A	c.(349-351)Gag>Aag	p.E117K	C12orf50_uc001tan.3_Missense_Mutation_p.E171K	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	117								p.E117G(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TAACACATCTCCTTTATTGCT	0.284000														40			15		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581158	7581158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:7581158C>T	uc003mxp.1	+	22	5014	c.4735C>T	c.(4735-4737)Cgg>Tgg	p.R1579W	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1579	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)		GGAGCTGAATCGGCTGAAGAG	0.542000														71			26		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20576154	20576154	+	Missense_Mutation	SNP	C	T	T	rs144570025		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:20576154C>T	uc002dhj.4	-	2	224	c.14G>A	c.(13-15)cGa>cAa	p.R5Q	ACSM2B_uc002dhk.4_Missense_Mutation_p.R5Q|ACSM2B_uc010bwf.1_Missense_Mutation_p.R5Q	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	5					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding	p.R5Q(2)|p.R5*(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTGAACTTTTCGCAGCCAATG	0.498000														49			8		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73108660	73108660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:73108660C>T	uc003pga.3	+	32	4801	c.4724C>T	c.(4723-4725)cCa>cTa	p.P1575L	RIMS1_uc011dyb.2_Missense_Mutation_p.P972L|RIMS1_uc003pgc.3_Missense_Mutation_p.P990L|RIMS1_uc010kaq.3_Missense_Mutation_p.P895L|RIMS1_uc011dyc.2_Missense_Mutation_p.P700L|RIMS1_uc010kar.3_Missense_Mutation_p.P643L|RIMS1_uc011dyd.2_Missense_Mutation_p.P709L|RIMS1_uc003pge.3_Missense_Mutation_p.P615L|RIMS1_uc003pgf.3_Missense_Mutation_p.P575L|RIMS1_uc003pgi.3_Missense_Mutation_p.P391L|RIMS1_uc003pgg.3_Missense_Mutation_p.P471L|RIMS1_uc003pgh.3_Missense_Mutation_p.P442L|RIMS1_uc003pgd.3_Missense_Mutation_p.P641L|RIMS1_uc011dye.2_Missense_Mutation_p.P381L|RIMS1_uc011dyf.2_Missense_Mutation_p.P199L|RIMS1_uc011dyg.2_Missense_Mutation_p.P102L	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1575	C2 2.				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)				TGTTTAGCTCCATATGTCAAA	0.318000														15			10		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149521696	149521696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:149521696C>T	uc010lpk.3	+	94	13766	c.13766C>T	c.(13765-13767)gCc>gTc	p.A4589V	SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4592					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGACTGGAGCCCCTCACCTC	0.697000														29			17		0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654514	31654514	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:31654514C>T	uc002ynv.3	-	0	763	c.737G>A	c.(736-738)aGt>aAt	p.S246N		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA.	246	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].					keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						TCTGCTACCACTGCACAAATA	0.443000														78			32		0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468163	35468163	+	Silent	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:35468163C>A	uc021wir.1	+	0	666	c.666C>A	c.(664-666)ccC>ccA	p.P222P	SLC5A3_uc002yto.3_Silent_p.P222P|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	222						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TGGCCTCACCCGATGTCACTT	0.428000														116			45		3.77016e-25	3.81543e-25	1	1	0
WDFY3	23001	broad.mit.edu	37	4	85645656	85645656	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:85645656G>A	uc003hpd.3	-	45	7772	c.7364C>T	c.(7363-7365)gCc>gTc	p.A2455V	WDFY3_uc003hpe.1_Missense_Mutation_p.A66V	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2455						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)		CTCCACAATGGCGTCTTGGAC	0.463000														88			32		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75265731	75265731	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:75265731G>A	uc001xqj.4	+	4	3855	c.3731G>A	c.(3730-3732)aGa>aAa	p.R1244K	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1049					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)		CTCTATAACAGAGAGGACAGG	0.493000														34			10		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039215	31039215	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:31039215T>A	uc002nsu.1	+	3	2827	c.2689T>A	c.(2689-2691)Ttc>Atc	p.F897I	ZNF536_uc010edd.1_Missense_Mutation_p.F897I	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	897					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)					AAGCACCCACTTCTCTGAGAT	0.517000														156			104		0	0	1	0	0
MEIS1	4211	broad.mit.edu	37	2	66667712	66667712	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:66667712C>T	uc002sdu.3	+	3	857	c.400C>T	c.(400-402)Cta>Tta	p.L134L	MEIS1_uc002sdt.3_Silent_p.L134L|MEIS1_uc010yqh.2_Non-coding_Transcript|MEIS1_uc010yqi.2_Silent_p.L69L|MEIS1_uc002sdw.1_5'UTR	NM_002398	NP_002389	O00470	MEIS1_HUMAN	Homo sapiens Meis homeobox 1 (MEIS1), mRNA.	134							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						AGAAAAACCTCTATTTTCTTC	0.502000														48			16		0	0	1	0	0
NXNL1	115861	broad.mit.edu	37	19	17571610	17571610	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:17571610C>T	uc002ngs.3	-	0	116	c.69G>A	c.(67-69)gaG>gaA	p.E23E		NM_138454	NP_612463	Q96CM4	NXNL1_HUMAN	Homo sapiens nucleoredoxin-like 1 (NXNL1), mRNA.	23	Thioredoxin.				cell redox homeostasis	nuclear outer membrane				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						TGACCTCAGCCTCCGTATCCA	0.622000														151			98		0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102743833	102743833	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:102743833C>A	uc001phk.3	-	1	209	c.112G>T	c.(112-114)Gaa>Taa	p.E38*		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	38					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TAAAATTTTTCTAAGTATCTC	0.328000														17			12		3.07112e-06	3.08803e-06	1	1	0
RYR2	6262	broad.mit.edu	37	1	237791158	237791158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:237791158C>T	uc001hyl.1	+	40	6338	c.6218C>T	c.(6217-6219)tCt>tTt	p.S2073F		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2073	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)			GCTCAGGAGTCTGTCATTGAA	0.493000														23			11		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37771275	37771275	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:37771275C>T	uc003asq.4	-	2	1086	c.300G>A	c.(298-300)ctG>ctA	p.L100L	ELFN2_uc021wph.1_Silent_p.L100L	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	100						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)					TCGACTGGCCCAGGAAGGCAC	0.597000														106			72		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7695608	7695608	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:7695608G>A	uc002giu.1	+	44	7106	c.7092G>A	c.(7090-7092)cgG>cgA	p.R2364R		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2364					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2363L(1)		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)				CCAAAATACGGAGTTGGACAT	0.532000														121			74		0	0	1	0	0
C3orf75	54859	broad.mit.edu	37	3	47539878	47539878	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:47539878A>T	uc003crk.3	-	5	689	c.570T>A	c.(568-570)gaT>gaA	p.D190E	C3orf75_uc011bba.2_Missense_Mutation_p.D141E|C3orf75_uc003crl.1_Missense_Mutation_p.D190E	NM_001031703	NP_001026873	Q0PNE2	CC075_HUMAN	Homo sapiens chromosome 3 open reading frame 75 (C3orf75), mRNA.	190										endometrium(2)|large_intestine(1)|lung(2)	5						CATTCTCCTCATCCTCCGCAT	0.562000														139			48		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542960	28542960	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:28542960G>A	uc003nlo.3	-	2	2140	c.1522C>T	c.(1522-1524)Cag>Tag	p.Q508*		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	508	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TGATAGGGCTGATTTTGGGAC	0.423000														94			40		0	0	1	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297777	139297777	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:139297777C>T	uc003etj.3	-	1	270	c.230G>A	c.(229-231)tGg>tAg	p.W77*	NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Nonsense_Mutation_p.W40*|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	77					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						CACCCGGATCCAGTCGGATGT	0.582000														72			15		0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4944799	4944799	+	Missense_Mutation	SNP	C	T	T	rs139551574	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:4944799C>T	uc010qyr.2	-	0	771	c.771G>A	c.(769-771)atG>atA	p.M257I		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAAGCCAATCATGGGGATGT	0.532000														49			30		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234367362	234367362	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:234367362G>A	uc001hvy.1	+	2	628	c.483G>A	c.(481-483)agG>agA	p.R161R	SLC35F3_uc001hwa.1_Silent_p.R92R	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	92					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)			TGACCTTCAGGAAGTTCGACG	0.602000														300			91		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7633767	7633767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:7633767C>T	uc001qsz.3	-	14	3461	c.3333G>A	c.(3331-3333)atG>atA	p.M1111I	CD163_uc001qta.3_Missense_Mutation_p.M1111I|CD163_uc009zfw.2_Missense_Mutation_p.M1144I	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1111					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						CTGAGGAATTCATTAGGTCCA	0.448000														66			23		0	0	1	0	0
VRK2	7444	broad.mit.edu	37	2	58350302	58350302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:58350302G>A	uc002rzo.2	+	10	1355	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	VRK2_uc010fcb.2_Missense_Mutation_p.E204K|VRK2_uc002rzt.3_Missense_Mutation_p.E86K|VRK2_uc002rzs.3_Missense_Mutation_p.E204K|VRK2_uc002rzv.3_Missense_Mutation_p.E204K|VRK2_uc010fcd.3_Missense_Mutation_p.E181K|VRK2_uc002rzu.3_Missense_Mutation_p.E204K|VRK2_uc010fcc.3_Missense_Mutation_p.E86K|VRK2_uc002rzp.3_Missense_Mutation_p.E204K|VRK2_uc010ypg.2_Missense_Mutation_p.E204K|VRK2_uc010yph.1_Missense_Mutation_p.E86K	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	Homo sapiens vaccinia related kinase 2 (VRK2), transcript variant 4, mRNA.	204	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						ACAGTATCAGGAAAATCCTAG	0.383000														71			34		0	0	1	0	0
MARC1	64757	broad.mit.edu	37	1	220964850	220964850	+	Missense_Mutation	SNP	A	G	G	rs149405266		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:220964850A>G	uc001hmt.3	+	1	541	c.293A>G	c.(292-294)aAc>aGc	p.N98S	MARC1_uc001hms.3_Missense_Mutation_p.N98S	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 1 (MARC1), nuclear gene encoding mitochondrial protein, mRNA.	98							molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										CTTGTGATCAACCAGGAGGGA	0.517000														78			21		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1264202	1264202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:1264202G>A	uc001lta.3	+	30	6151	c.6092G>A	c.(6091-6093)gGg>gAg	p.G2031E		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2031	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACAACTGGGGCCACCGGC	0.647000														235			97		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51907899	51907899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:51907899C>T	uc003pah.1	-	26	3131	c.2855G>A	c.(2854-2856)gGa>gAa	p.G952E	PKHD1_uc003pai.3_Missense_Mutation_p.G952E	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	952	IPT/TIG 4.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.G952*(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAACCAGTTCCGGTAATGTA	0.353000														37			22		0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	6069260	6069260	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:6069260G>A	uc010ndi.3	-	1	712	c.248C>T	c.(247-249)aCt>aTt	p.T83I	NLGN4X_uc004crp.3_Missense_Mutation_p.T83I|NLGN4X_uc010ndh.3_Missense_Mutation_p.T83I|NLGN4X_uc004crq.3_Missense_Mutation_p.T83I|NLGN4X_uc004crr.3_Missense_Mutation_p.T83I|NLGN4X_uc010ndj.3_Missense_Mutation_p.T83I	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	83					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CCTCTCTCCAGTGGGGGGTGA	0.567000														50			34		0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26537355	26537355	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:26537355G>A	uc002rhe.4	-	6	1059	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	GPR113_uc010yky.1_Silent_p.F284F|GPR113_uc002rhb.1_5'UTR|GPR113_uc010eyk.1_Silent_p.F154F|GPR113_uc002rhc.1_Intron|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	353					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTCAGCTGGAAGCCAGGGG	0.617000														61			38		0	0	1	0	0
SYTL1	84958	broad.mit.edu	37	1	27679920	27679920	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:27679920G>A	uc001bnw.2	+	13	1687	c.1490G>A	c.(1489-1491)tGg>tAg	p.W497*	SYTL1_uc001bnv.2_Nonsense_Mutation_p.W485*|SYTL1_uc009vsv.2_Nonsense_Mutation_p.W497*	NM_001193308	NP_001180237	Q8IYJ3	SYTL1_HUMAN	Homo sapiens synaptotagmin-like 1 (SYTL1), transcript variant 1, mRNA.	497	C2 2.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	Rab GTPase binding|neurexin binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTCCCTCTGGGACCATGGG	0.667000														33			11		0	0	1	0	0
SARS	6301	broad.mit.edu	37	1	109777924	109777924	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:109777924C>T	uc001dwu.2	+	6	940	c.840C>T	c.(838-840)caC>caT	p.H280H		NM_006513	NP_006504	P49591	SYSC_HUMAN	Homo sapiens seryl-tRNA synthetase (SARS), transcript variant 1, mRNA.	280					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|RNA binding|protein binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CTGCCCTGCACCGGGATGAGT	0.582000														479			379		0	0	1	0	0
CCNF	899	broad.mit.edu	37	16	2495514	2495514	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:2495514C>T	uc002cqd.1	+	9	1073	c.985C>T	c.(985-987)Ctg>Ttg	p.L329L	CCNF_uc002cqe.1_Silent_p.L21L	NM_001761	NP_001752	P41002	CCNF_HUMAN	Homo sapiens cyclin F (CCNF), mRNA.	329	Cyclin N-terminal.				SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination	SCF ubiquitin ligase complex|centriole|nucleus	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CTTCACAAGCCTGTGCCTGCA	0.607000														89			45		0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133160140	133160140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:133160140C>T	uc003vrk.3	+	7	1276	c.1241C>T	c.(1240-1242)gCt>gTt	p.A414V	EXOC4_uc011kpo.2_Missense_Mutation_p.A313V|EXOC4_uc003vri.3_Missense_Mutation_p.A414V|EXOC4_uc003vrj.3_Missense_Mutation_p.A414V	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	414					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)				GAACCATCAGCTCAACTAAGC	0.368000														117			37		0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617587	54617587	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:54617587A>C	uc022adk.1	+	3	763	c.358A>C	c.(358-360)Aag>Cag	p.K120Q	VSTM2A_uc010kzf.3_Missense_Mutation_p.K120Q	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	120	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			AGTGAGGAAAAAGGATGAAGG	0.443000														40			15		0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	820915	820915	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:820915C>T	uc002cjz.1	-	12	2470	c.2470G>A	c.(2470-2472)Gac>Aac	p.D824N		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	473					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TAGAGCACGTCCTTCCGGCTC	0.687000														13			4		0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851542	43851542	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:43851542G>A	uc010ggz.3	+	1	1326	c.1269G>A	c.(1267-1269)aaG>aaA	p.K423K	SEMG2_uc002xnk.3_Silent_p.K423K|SEMG2_uc002xnl.3_Intron	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	423	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GTGGAGAAAAGGATGTACAGA	0.373000														74			39		0	0	1	0	0
TSSK2	23617	broad.mit.edu	37	22	19119041	19119041	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:19119041C>T	uc002zow.2	+	0	721	c.129C>T	c.(127-129)atC>atT	p.I43I	DGCR14_uc002zou.3_3'UTR	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA.	43	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					TCAAGATCATCGACCGCAAGA	0.493000														88			45		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92345744	92345744	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:92345744G>A	uc010tif.2	+	2	995	c.629G>A	c.(628-630)aGa>aAa	p.R210K		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	210						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)				ATTCCCCAAAGAGTAATGGGA	0.522000														28			18		0	0	1	0	0
PI15	51050	broad.mit.edu	37	8	75757424	75757424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:75757424C>T	uc003yal.3	+	3	633	c.454C>T	c.(454-456)Cca>Tca	p.P152S	AK024242_uc003yak.1_Intron|PI15_uc003yam.3_Missense_Mutation_p.P152S	NM_015886	NP_056970	O43692	PI15_HUMAN	Homo sapiens peptidase inhibitor 15 (PI15), mRNA.	152						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TTATGCTTTTCCATATCCCCA	0.388000														107			31		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2855633	2855633	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:2855633G>A	uc022aqr.1	-	53	8667	c.8277C>T	c.(8275-8277)gtC>gtT	p.V2759V	CSMD1_uc011kwj.2_Silent_p.V2089V|CSMD1_uc010lrg.3_Silent_p.V770V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2760	Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGAAATTCACGACATCATTCA	0.557000														66			26		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921462	24921462	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:24921462G>A	uc001ywo.3	+	0	922	c.448G>A	c.(448-450)Gag>Aag	p.E150K		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	150					cell differentiation|multicellular organismal development|spermatogenesis			p.T149T(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)		GGAGGAGACCGAGGTGTGGGC	0.627000														72			27		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9457375	9457375	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:9457375C>T	uc021wam.1	+	34	3486	c.3471C>T	c.(3469-3471)tcC>tcT	p.S1157S	PLCB4_uc010gbx.3_Intron|PLCB4_uc021wal.1_Intron|PLCB4_uc002wnh.3_Intron	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	490					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.S1157Y(1)		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						TTTTGAAATCCTGTCATGCAG	0.368000														33			8		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220342693	220342693	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:220342693C>T	uc010fwg.3	+	21	4893	c.4893C>T	c.(4891-4893)ttC>ttT	p.F1631F		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1631	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGGCCAAGTTCATCCCCAGCC	0.637000														195			90		0	0	1	0	0
GATAD2B	57459	broad.mit.edu	37	1	153788833	153788833	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:153788833G>A	uc001fdb.4	-	6	1376	c.1132C>T	c.(1132-1134)Cat>Tat	p.H378Y		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	Homo sapiens GATA zinc finger domain containing 2B (GATAD2B), mRNA.	378	CR2.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCAAGAAATGAAGTAAGGGA	0.502000														88			50		0	0	1	0	0
RANBP10	57610	broad.mit.edu	37	16	67763291	67763291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:67763291G>A	uc002eud.3	-	9	1360	c.1244C>T	c.(1243-1245)tCc>tTc	p.S415F	RANBP10_uc010ceo.3_Missense_Mutation_p.S186F|RANBP10_uc010vju.2_Missense_Mutation_p.S359F|RANBP10_uc010vjv.2_Missense_Mutation_p.S298F|RANBP10_uc010vjw.1_Missense_Mutation_p.S76F	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	415	Ser-rich.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		ggaggaggaggaggacgagga	0.562000														47			10		0	0	1	0	0
IRAK1BP1	134728	broad.mit.edu	37	6	79577333	79577333	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:79577333G>A	uc003pim.3	+	0	145	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	IRAK1BP1_uc010kbg.1_Non-coding_Transcript	NM_001010844	NP_001010844	Q5VVH5	IKBP1_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 1 binding protein 1 (IRAK1BP1), mRNA.	14	Intrinsically disordered.				I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		AGTGTTCGTGGAACTGGTTCC	0.627000														95			50		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539137	56539137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:56539137G>A	uc002qmj.3	+	6	1538	c.1538G>A	c.(1537-1539)cGa>cAa	p.R513Q	NLRP5_uc002qmi.3_Missense_Mutation_p.R494Q	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	513	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTCACCCCTCGAGGCGTGGTC	0.597000														21			18		0	0	1	0	0
GRXCR2	643226	broad.mit.edu	37	5	145252327	145252327	+	Missense_Mutation	SNP	C	T	T	rs447402		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:145252327C>T	uc003lns.1	-	0	205	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	69								p.G68R(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CTGGGGACTTCCCCAGACCCA	0.527000														45			24		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028248	21028248	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:21028248C>T	uc010sil.2	+	6	872	c.807C>T	c.(805-807)tcC>tcT	p.S269S	SLCO1B3_uc001rek.3_Silent_p.S269S|SLCO1B3_uc001rel.3_Silent_p.S269S|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	269					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)					GACTATTTTCCATTATTTCTT	0.363000														121			39		0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3599405	3599405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:3599405C>T	uc003jde.3	+	1	395	c.343C>T	c.(343-345)Ccg>Tcg	p.P115S		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	115						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCACACGGCGCCGGCTTATTA	0.652000														76			33		0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59560748	59560748	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:59560748G>A	uc010ddo.3	+	8	1675	c.1512G>A	c.(1510-1512)agG>agA	p.R504R	TBX4_uc002izi.3_Silent_p.R503R|TBX4_uc010woy.2_Silent_p.R504R	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	503					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R503R(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GGTGTGAGAGGAAGCCACCCT	0.547000														67			29		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814040	137814040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:137814040C>T	uc002tva.1	+	1	97	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	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)		AGTCCAGAGTCGGGCAGTGTG	0.498000														46			19		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47625936	47625936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:47625936G>A	uc003gxm.3	-	17	2438	c.2345C>T	c.(2344-2346)tCt>tTt	p.S782F	CORIN_uc011bzf.2_Missense_Mutation_p.S643F|CORIN_uc011bzg.2_Missense_Mutation_p.S715F	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	782	SRCR.				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						ACACAGAAGAGAAATTTTACT	0.368000														49			23		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	93962762	93962762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:93962762C>T	uc001ybv.1	+	2	270	c.187C>T	c.(187-189)Cat>Tat	p.H63Y	UNC79_uc001ybs.1_Missense_Mutation_p.H63Y|UNC79_uc001ybu.1_Intron	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	240						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						TACAGTGTATCATTGTCAATT	0.274000														62			25		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124376396	124376396	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:124376396G>T	uc003ehg.3	+	39	6088	c.5961G>T	c.(5959-5961)aaG>aaT	p.K1987N	KALRN_uc003ehi.3_Missense_Mutation_p.K328N|KALRN_uc003ehk.3_Missense_Mutation_p.K290N|KALRN_uc011bjz.2_Missense_Mutation_p.K79N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1986	DH 2.				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						ACTGGCATAAGGAGTAAGTGT	0.468000														70			40		2.2871e-25	2.31527e-25	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176659422	176659422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:176659422C>T	uc001gkz.3	+	4	3451	c.2287C>T	c.(2287-2289)Cca>Tca	p.P763S	PAPPA2_uc001gky.1_Missense_Mutation_p.P763S|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	763					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						GGAGACAGTGCCATCCATGGA	0.552000														111			63		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84607563	84607563	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:84607563G>A	uc004amn.3	+	3	2225	c.2178G>A	c.(2176-2178)gaG>gaA	p.E726E		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	726						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						CTGTGTCAGAGAGAATTCATG	0.498000														53			20		0	0	1	0	0
PAK2	5062	broad.mit.edu	37	3	196555209	196555209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:196555209C>T	uc003fwy.4	+	14	1830	c.1508C>T	c.(1507-1509)gCc>gTc	p.A503V		NM_002577	NP_002568	Q13177	PAK2_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 (PAK2), mRNA.	503					T cell costimulation|T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CTGAAACTGGCCAAACCGTTA	0.398000														384			70		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20232323	20232323	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:20232323C>T	uc002wru.3	+	19	2358	c.2244C>T	c.(2242-2244)gaC>gaT	p.D748D	C20orf26_uc010zse.2_Silent_p.D728D|C20orf26_uc002wrw.3_Non-coding_Transcript|C20orf26_uc002wrv.3_Silent_p.D104D	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	748										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)		CCGGCATAGACCGAGCAGCCA	0.542000														157			83		0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52911738	52911738	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:52911738C>T	uc001san.3	-	3	1033	c.870G>A	c.(868-870)gaG>gaA	p.E290E	KRT5_uc009zmh.3_Silent_p.E290E	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	290	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAACCTTGGCCTCCAGCTCCA	0.458000														197			68		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320803	79320803	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:79320803C>T	uc010mpk.3	-	7	6511	c.6387G>A	c.(6385-6387)gtG>gtA	p.V2129V	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Silent_p.V1951V	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2129					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CACTGGATTCCACTTCAGGTC	0.488000														123			38		0	0	1	0	0
LECT1	11061	broad.mit.edu	37	13	53307459	53307459	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:53307459C>T	uc001vhf.2	-	2	360	c.249G>A	c.(247-249)ggG>ggA	p.G83G	LECT1_uc001vhg.2_Silent_p.G83G|LECT1_uc001vhh.2_Silent_p.G110G	NM_007015	NP_008946	O75829	LECT1_HUMAN	Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA.	83					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CTTGTAATTTCCCATTGATAC	0.378000														91			67		0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35431485	35431485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:35431485G>A	uc021wcx.1	-	10	3453	c.3113C>T	c.(3112-3114)gCc>gTc	p.A1038V	SOGA1_uc002xgd.1_Missense_Mutation_p.A800V	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	800										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCGCTCCCCGGCCCCCTTCCC	0.642000														23			12		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588768	247588768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:247588768C>T	uc001icr.3	+	4	2161	c.2023C>T	c.(2023-2025)Cgg>Tgg	p.R675W	NLRP3_uc001ics.3_Missense_Mutation_p.R675W|NLRP3_uc001icu.3_Missense_Mutation_p.R675W|NLRP3_uc001icw.3_Missense_Mutation_p.R675W|NLRP3_uc001icv.3_Missense_Mutation_p.R675W|NLRP3_uc010pyw.2_Missense_Mutation_p.R673W|NLRP3_uc001ict.1_Missense_Mutation_p.R673W	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	675					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAACTGTCATCGGGTGGAGTC	0.502000														85			18		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234112876	234112876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:234112876C>T	uc010zmo.2	+	24	3146	c.2993C>T	c.(2992-2994)tCc>tTc	p.S998F	INPP5D_uc010zmp.2_Missense_Mutation_p.S997F	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	1027	Pro-rich.				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)		TCCCTGAGTTCCTTCCCTAAG	0.632000														45			16		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156640516	156640516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:156640516G>A	uc001fpq.3	-	3	3597	c.3464C>T	c.(3463-3465)tCc>tTc	p.S1155F	NES_uc021pbh.1_Missense_Mutation_p.S73F	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1155	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)					AGGCAGCTCGGAGAACTCTGT	0.632000														146			64		0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21993631	21993631	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:21993631G>A	uc001wbe.3	-	1	513	c.231C>T	c.(229-231)gcC>gcT	p.A77A	SALL2_uc010tly.2_Silent_p.A75A|SALL2_uc010tlz.1_Silent_p.A75A|SALL2_uc001wbf.3_Silent_p.A75A|SALL2_uc010tma.1_Silent_p.A77A|SALL2_uc001wbg.1_Silent_p.A77A	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	77							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GTTCAGAGGAGGCCGAAGAGT	0.567000														118			58		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142609750	142609750	+	Silent	SNP	G	A	A	rs4252498		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:142609750G>A	uc003wby.1	-	12	1950	c.1686C>T	c.(1684-1686)ttC>ttT	p.F562F		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	562					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CAATGATGGCGAAGGCGAAGT	0.542000														124			58		0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000028	56000028	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:56000028C>T	uc010rjc.2	-	0	634	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CGCCTAATTTCATTGGCTCCA	0.418000														75			44		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6100135	6100135	+	Missense_Mutation	SNP	C	T	T	rs1056137		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:6100135C>T	uc002wmr.3	-	1	856	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	FERMT1_uc010gbt.3_5'UTR|FERMT1_uc002wms.3_Missense_Mutation_p.E23K	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	23					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						TGCTGCTCTTCATTGGGATGG	0.468000														78			42		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076666	57076666	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:57076666G>A	uc001njr.3	-	4	3831	c.3519C>T	c.(3517-3519)tcC>tcT	p.S1173S	TNKS1BP1_uc001njs.3_Silent_p.S1173S|TNKS1BP1_uc009ymd.1_Silent_p.S624S	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1173	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCACACAGCTGGACACTTCCA	0.607000														66			56		0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57430834	57430834	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:57430834C>T	uc001smw.4	-	19	2337	c.2097G>A	c.(2095-2097)caG>caA	p.Q699Q	MYO1A_uc010sqz.2_Silent_p.Q537Q|MYO1A_uc009zpd.3_Silent_p.Q699Q	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	699	IQ 1.				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						GTGTGGCCAGCTGCTGGAGTC	0.567000														132			43		0	0	1	0	0
PDIA3P	171423	broad.mit.edu	37	1	146651022	146651022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:146651022C>T	uc001epg.1	+	0	1593	c.1330C>T	c.(1330-1332)Cca>Tca	p.P444S						Homo sapiens protein disulfide isomerase family A, member 3 pseudogene (PDIA3P), non-coding RNA.																		TGTGCCTTCTCCATATGAAGT	0.418000														73			49		0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140299993	140299993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:140299993C>T	uc003ihu.1	+	16	2396	c.2140C>T	c.(2140-2142)Cgt>Tgt	p.R714C		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	Homo sapiens N(alpha)-acetyltransferase 15, NatA auxiliary subunit (NAA15), mRNA.	714					N-terminal protein amino acid acetylation|angiogenesis|cell differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GTGTATGATTCGTCTCTTTAA	0.333000														50			23		0	0	1	0	0
KRT37	8688	broad.mit.edu	37	17	39580464	39580464	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:39580464C>T	uc002hwp.1	-	0	359	c.312G>A	c.(310-312)gaG>gaA	p.E104E		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	104	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TGGTCTCCTTCTCATGGCCAT	0.572000														142			36		0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105816879	105816879	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:105816879C>T	uc001kxr.3	-	16	1488	c.1319G>A	c.(1318-1320)gGt>gAt	p.G440D	COL17A1_uc010qqv.1_Missense_Mutation_p.G424D	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	440	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)		gccaccaacaccgccacctcc	0.647000														49			34		0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673292	141673292	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:141673292G>A	uc003vwx.1	-	0	282	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	66					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GTCCATGCAGGAAAAGCCGGC	0.493000														102			35		0	0	1	0	0
SULT6B1	391365	broad.mit.edu	37	2	37406707	37406707	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:37406707G>A	uc002rpu.3	-	3	330	c.309C>T	c.(307-309)aaC>aaT	p.N103N	SULT6B1_uc010yni.2_Non-coding_Transcript	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 6B, member 1 (SULT6B1), mRNA.	141						cytoplasm	sulfotransferase activity	p.R102>?(1)|p.R102Q(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TATCTTTAGGGTTTCGAAATA	0.353000														120			45		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23858111	23858111	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:23858111C>T	uc001wjv.3	-	28	4203	c.4132G>A	c.(4132-4134)Gag>Aag	p.E1378K	MIR208A_uc010tnn.2_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1378					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)		GCGTCCGTCTCATACTTGGTC	0.622000														139			46		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	120053707	120053707	+	Silent	SNP	G	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:120053707G>T	uc004bjt.2	-	1	629	c.528C>A	c.(526-528)tcC>tcA	p.S176S		NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	176						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						AGCTGCTCATGGAGACGTGGA	0.592000														89			31		6.97489e-18	7.04779e-18	1	1	0
ANO5	203859	broad.mit.edu	37	11	22283728	22283728	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:22283728C>T	uc001mqi.2	+	15	2001	c.1684C>T	c.(1684-1686)Ctg>Ttg	p.L562L	ANO5_uc001mqj.2_Silent_p.L561L	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	562						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						GAAAATGTTCCTGTTTCAGTT	0.323000														90			16		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32035616	32035616	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:32035616G>A	uc003nzl.2	-	17	6568	c.6366C>T	c.(6364-6366)ttC>ttT	p.F2122F		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2194	Fibronectin type-III 13.				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						TGAAGGAGTCGAAGCGGCCCT	0.692000														371			132		0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823154	47823154	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:47823154C>T	uc002pgj.1	+	1	169	c.120C>T	c.(118-120)gcC>gcT	p.A40A		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	40					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		ACATCCTGGCCTTGGTCATCT	0.552000														77			51		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28993089	28993089	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:28993089C>T	uc002kwr.2	+	14	2846	c.2711C>T	c.(2710-2712)cCc>cTc	p.P904L	DSG4_uc002kwq.2_Missense_Mutation_p.P885L	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	885					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)			GGATTGACTCCCTCAGAAGTT	0.433000														129			93		0	0	1	0	0
TSC22D4	81628	broad.mit.edu	37	7	100075452	100075452	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100075452G>A	uc003uva.3	-	1	965	c.210C>T	c.(208-210)tcC>tcT	p.S70S	TSC22D4_uc011kjv.2_Intron|TSC22D4_uc010lgx.3_Silent_p.S70S|TSC22D4_uc003uvc.4_Silent_p.S70S	NM_030935	NP_112197	Q9Y3Q8	T22D4_HUMAN	Homo sapiens TSC22 domain family, member 4 (TSC22D4), mRNA.	70					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCGGAAACGGGAGGAAGGGG	0.716000														23			6		0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24759776	24759776	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:24759776G>A	uc001mqs.3	+	3	535	c.261G>A	c.(259-261)atG>atA	p.M87I	LUZP2_uc009yif.3_Missense_Mutation_p.M1I|LUZP2_uc009yig.3_Missense_Mutation_p.M87I	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	87						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						GAGAAGAAATGAAGTCTCTTC	0.353000														22			9		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8714011	8714011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:8714011G>A	uc002wnb.3	+	18	2018	c.2015G>A	c.(2014-2016)gGg>gAg	p.G672E	PLCB1_uc010zrb.1_Missense_Mutation_p.G571E|PLCB1_uc002wna.3_Missense_Mutation_p.G672E|PLCB1_uc002wnc.1_Missense_Mutation_p.G571E|PLCB1_uc002wnd.1_Missense_Mutation_p.G249E	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	672	C2.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ATCGTAGATGGGATAGTGGCA	0.403000														85			35		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831431	61831431	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:61831431G>A	uc001jky.3	-	36	9546	c.9208C>T	c.(9208-9210)Ccc>Tcc	p.P3070S	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.	3070					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						CCATCAATGGGACTGTGGTCG	0.463000														70			46		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16040318	16040318	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:16040318G>A	uc002nbu.2	-	2	328	c.292C>T	c.(292-294)Ctc>Ttc	p.L98F	CYP4F11_uc010eab.1_Missense_Mutation_p.L98F|CYP4F11_uc002nbt.2_Missense_Mutation_p.L98F	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	98					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						AAAATGAGGAGGGGGAAGGTA	0.552000														370			69		0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510839	5510839	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:5510839G>A	uc010qzg.2	+	0	925	c.903G>A	c.(901-903)aaG>aaA	p.K301K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAGAACCAAGGAGATTCGGA	0.453000														40			11		0	0	1	0	0
TACR1	6869	broad.mit.edu	37	2	75425980	75425980	+	Silent	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:75425980T>C	uc002sng.2	-	0	666	c.81A>G	c.(79-81)caA>caG	p.Q27Q	TACR1_uc002snh.3_Silent_p.Q27Q	NM_001058	NP_001049	P25103	NK1R_HUMAN	Homo sapiens tachykinin receptor 1 (TACR1), transcript variant long, mRNA.	27					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GCCAGGCTGGTTGCACGAACT	0.537000														51			31		0	0	1	0	0
HIP1R	9026	broad.mit.edu	37	12	123341062	123341062	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:123341062G>A	uc001udj.1	+	15	1544	c.1485G>A	c.(1483-1485)caG>caA	p.Q495Q	HIP1R_uc001udg.1_Silent_p.Q483Q|HIP1R_uc001udi.1_Silent_p.Q495Q|HIP1R_uc001udk.1_5'UTR	NM_003959	NP_003950	O75146	HIP1R_HUMAN	Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA.	495					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		TGGCCTTCCAGGTGGAGCAGG	0.657000														19			6		0	0	1	0	0
CCDC102A	92922	broad.mit.edu	37	16	57555046	57555046	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:57555046C>T	uc002elw.3	-	3	1068	c.855G>A	c.(853-855)ggG>ggA	p.G285G		NM_033212	NP_149989	Q96A19	C102A_HUMAN	Homo sapiens coiled-coil domain containing 102A (CCDC102A), mRNA.	285										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						GGCTGAGCTCCCCCTCTAGCT	0.567000														133			34		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109704812	109704812	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:109704812G>A	uc010agk.2	+	24	3659	c.3037G>A	c.(3037-3039)Gaa>Aaa	p.E1013K	MYO16_uc001vqt.1_Missense_Mutation_p.E991K|MYO16_uc001vqu.1_Missense_Mutation_p.E791K|MYO16_uc010tjh.1_Missense_Mutation_p.E503K	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	991	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	p.P1013P(1)		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)			GAATTATCTAGAACTTAGTAA	0.284000														23			41		0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39178229	39178229	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:39178229G>A	uc004abi.3	-	4	906	c.667C>T	c.(667-669)Cac>Tac	p.H223Y	CNTNAP3_uc004abj.3_Missense_Mutation_p.H223Y|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.H223Y|CNTNAP3_uc011lqs.1_Missense_Mutation_p.H223Y	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	223	Laminin G-like 1.				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)		CCTTCTCTGTGAAGTAGAATT	0.303000														115			37		0	0	1	0	0
ACOT4	122970	broad.mit.edu	37	14	74062020	74062020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:74062020C>T	uc001xoo.3	+	2	1182	c.928C>T	c.(928-930)Cca>Tca	p.P310S		NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN	Homo sapiens acyl-CoA thioesterase 4 (ACOT4), mRNA.	310					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		CAGCATGATTCCAATAGAGAA	0.493000														99			34		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15256413	15256413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:15256413C>T	uc001iob.3	-	7	1181	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	392						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						CTCATCAGTTCCTTCGTGCCG	0.602000														76			55		0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100949962	100949962	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:100949962G>A	uc003duq.2	-	15	3464	c.3261C>T	c.(3259-3261)taC>taT	p.Y1087Y	IMPG2_uc011bhe.2_Silent_p.Y950Y|IMPG2_uc010hpj.1_Intron	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	1087	EGF-like 2.|Hyaluronan-binding motif involved in chondroitin sulfate C-binding (By similarity).				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						GCTTGCCTCGGTACCACCAGT	0.493000														132			99		0	0	1	0	0
RGNEF	64283	broad.mit.edu	37	5	73187937	73187937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:73187937G>A	uc010izf.3	+	26	3624	c.3448G>A	c.(3448-3450)Gag>Aag	p.E1150K	RGNEF_uc011csq.2_Missense_Mutation_p.E1150K|RGNEF_uc021yam.1_Missense_Mutation_p.E1150K|RGNEF_uc011csr.2_Missense_Mutation_p.E837K|RGNEF_uc003kcz.4_Missense_Mutation_p.E114K|RGNEF_uc003kda.4_Missense_Mutation_p.E114K	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	1150	PH.				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TGCTAATGAGGAGAGAGGAAT	0.418000														7			10		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41018857	41018857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:41018857C>T	uc003jmj.4	-	25	3099	c.2609G>A	c.(2608-2610)gGa>gAa	p.G870E	HEATR7B2_uc003jmi.4_Missense_Mutation_p.G425E	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	870							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CAGAAGTTTTCCTAGGGCGTC	0.448000														65			18		0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8687268	8687268	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:8687268C>T	uc001quo.1	-	5	791	c.626G>A	c.(625-627)gGa>gAa	p.G209E		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	209						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					AGGATTTATTCCTACCATTTC	0.423000														74			28		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149490419	149490419	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:149490419G>A	uc010lpk.3	+	38	5886	c.5886G>A	c.(5884-5886)gaG>gaA	p.E1962E		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1965	TSP type-1 3.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCCCTGTGAGGGGTGTGAGC	0.647000														51			21		0	0	1	0	0
SLC4A9	83697	broad.mit.edu	37	5	139740450	139740450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:139740450C>T	uc003lfm.2	+	1	391	c.356C>T	c.(355-357)cCc>cTc	p.P119L	SLC4A9_uc003lfj.2_Missense_Mutation_p.P95L|SLC4A9_uc011czg.1_Missense_Mutation_p.P95L|SLC4A9_uc003lfl.2_Missense_Mutation_p.P95L|SLC4A9_uc003lfk.2_Missense_Mutation_p.P95L	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 9 (SLC4A9), mRNA.	119						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGTGCCCCCCACGTGCCC	0.622000														28			16		0	0	1	0	0
TSPAN18	90139	broad.mit.edu	37	11	44941473	44941473	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:44941473G>A	uc001myg.3	+	4	548	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	TSPAN18_uc001mye.4_Missense_Mutation_p.E180K|TP53I11_uc001myf.1_Intron	NM_130783	NP_570139	Q96SJ8	TSN18_HUMAN	Homo sapiens tetraspanin 18 (TSPAN18), mRNA.	180						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						CTGCCGGAGGGAACCCCAAAG	0.597000														209			42		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798390	185798390	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:185798390G>A	uc002uph.3	+	2	910	c.316G>A	c.(316-318)Gat>Aat	p.D106N		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	106						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						ATCCAGGAAAGATGAAAGAAA	0.373000														36			12		0	0	1	0	0
ANAPC7	51434	broad.mit.edu	37	12	110815261	110815261	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:110815261C>T	uc001tqo.2	-	8	1397	c.1396G>A	c.(1396-1398)Gat>Aat	p.D466N	ANAPC7_uc001tqp.4_Missense_Mutation_p.D466N	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	Homo sapiens anaphase promoting complex subunit 7 (ANAPC7), transcript variant 1, mRNA.	466					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						AGGGCTTTATCTAATAATGTT	0.413000														168			53		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50190413	50190413	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:50190413G>A	uc001zxu.3	-	21	2467	c.2325C>T	c.(2323-2325)ctC>ctT	p.L775L	ATP8B4_uc010ber.3_Silent_p.L648L|ATP8B4_uc010ufd.2_Silent_p.L585L|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxv.1_Silent_p.L73L	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	775					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)		CAAGTTCTAGGAGATCATTCT	0.403000														35			8		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169519046	169519046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:169519046C>T	uc001ggg.1	-	9	1749	c.1604G>A	c.(1603-1605)gGa>gAa	p.G535E	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	535	F5/8 type A 2.	Cleavage; by activated protein C.			cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TACCTGTATTCCTTGCCTGTC	0.433000														45			19		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128786570	128786570	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:128786570G>A	uc001qet.3	+	2	1518	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	KCNJ5_uc009zck.3_Missense_Mutation_p.E402K|KCNJ5_uc001qew.3_Missense_Mutation_p.E402K	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	402					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	TGAGCAGAATGAAGAAGATGA	0.637000														27			19		0	0	1	0	0
CKAP2L	150468	broad.mit.edu	37	2	113509901	113509901	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:113509901G>A	uc002tie.2	-	4	1624	c.1545C>T	c.(1543-1545)ctC>ctT	p.L515L	CKAP2L_uc002tif.2_Silent_p.L104L|CKAP2L_uc010yxp.1_Silent_p.L350L|CKAP2L_uc010yxq.1_Silent_p.L350L	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	515						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGGACAGTTCGAGTTGTGCTT	0.373000														180			61		0	0	1	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65715081	65715081	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:65715081G>A	uc001ogk.1	+	3	814	c.782G>A	c.(781-783)aGg>aAg	p.R261K	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.	262										endometrium(2)|kidney(3)|lung(9)	14						GGAGAGCACAGGACTCCCTGC	0.622000														47			26		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3224691	3224691	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:3224691G>A	uc022aqr.1	-	19	3368	c.2978C>T	c.(2977-2979)tCc>tTc	p.S993F	CSMD1_uc011kwj.2_Missense_Mutation_p.S386F|CSMD1_uc003wqe.3_Missense_Mutation_p.S150F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	994	CUB 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AACGGGCTCGGAAAAACTTCC	0.498000														13			8		0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30380327	30380327	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:30380327C>T	uc002hgu.3	+	11	2835	c.2824C>T	c.(2824-2826)Cca>Tca	p.P942S	LRRC37B_uc010wbx.2_Missense_Mutation_p.P860S|LRRC37B_uc010csu.3_Missense_Mutation_p.P891S	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.	942						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CAAAGACAACCCATCAATATC	0.333000														75			19		0	0	1	0	0
INSL3	3640	broad.mit.edu	37	19	17927841	17927841	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:17927841C>T	uc002nhm.1	-	1	223	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	INSL3_uc010ebf.1_Missense_Mutation_p.D105N	NM_005543	NP_005534	P51460	INSL3_HUMAN	Homo sapiens insulin-like 3 (Leydig cell) (INSL3), mRNA.	73					cell-cell signaling|spermatogenesis	soluble fraction	hormone activity|insulin receptor binding|signal transducer activity			breast(1)|lung(1)	2						GAGCAGATGTCGTCTCTCCAG	0.602000														60			44		0	0	1	0	0
IVD	3712	broad.mit.edu	37	15	40710397	40710397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:40710397G>A	uc001zls.3	+	11	1550	c.1216G>A	c.(1216-1218)Ggg>Agg	p.G406R	IVD_uc001zlq.2_Missense_Mutation_p.G376R|IVD_uc001zlr.2_Missense_Mutation_p.G109R	NM_002225	NP_002216	P26440	IVD_HUMAN	Homo sapiens isovaleryl-CoA dehydrogenase (IVD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	403					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		GTATGAGATAGGGGCTGGGAC	0.557000														120			45		0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145095066	145095066	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:145095066C>T	uc011lkw.2	+	1	570	c.468C>T	c.(466-468)tcC>tcT	p.S156S	SPATC1_uc011lkx.2_Silent_p.S156S	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	156										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)			TGGCCAGTTCCCTGGGCCTGC	0.672000														26			6		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372930	24372930	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:24372930C>T	uc002dmf.3	+	3	1896	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	232					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)		GTATCGATTCCGGAGGCGGTC	0.527000														66			16		0	0	1	0	0
RPL27	6155	broad.mit.edu	37	17	41152077	41152077	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:41152077C>T	uc002icj.3	+	2	254	c.209C>T	c.(208-210)tCt>tTt	p.S70F		NM_000988	NP_000979	P61353	RL27_HUMAN	Homo sapiens ribosomal protein L27 (RPL27), mRNA.	70					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)	3		Breast(137;0.000717)|Ovarian(249;0.0776)		BRCA - Breast invasive adenocarcinoma(366;0.157)		AAGATAAAATCTTTTGTGAAA	0.438000														79			35		0	0	1	0	0
SH3D21	79729	broad.mit.edu	37	1	36785831	36785831	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:36785831G>A	uc010oia.1	+	13	1595	c.1567G>A	c.(1567-1569)Gat>Aat	p.D523N	SH3D21_uc010oib.1_Missense_Mutation_p.D412N|SH3D21_uc010oic.1_Non-coding_Transcript|SH3D21_uc009vuz.1_Missense_Mutation_p.D169N	NM_001162530	NP_078952	A4FU49	SH321_HUMAN	Homo sapiens SH3 domain containing 21 (SH3D21), transcript variant 1, mRNA.	407										endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						AGCCAAAGAGGATCCATCATC	0.537000														90			36		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106791110	106791110	+	RNA	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:106791110G>A	uc021ser.1	-	619		c.17282C>T								Parts of antibodies, mostly variable regions.																		GGCCCTTCACGGAGTCTGCAT	0.507000														450			100		0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1801056	1801056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:1801056C>T	uc003gdr.3	+	2	441	c.185C>T	c.(184-186)cCc>cTc	p.P62L	FGFR3_uc003gdu.2_Missense_Mutation_p.P62L|FGFR3_uc003gds.3_Missense_Mutation_p.P62L|FGFR3_uc003gdq.3_Missense_Mutation_p.P62L|FGFR3_uc010icb.1_5'Flank|FGFR3_uc003gdt.1_5'Flank	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	62	Ig-like C2-type 1.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CTGAGCTGTCCCCCGCCCGGG	0.697000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					120			30		0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2415735	2415735	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:2415735G>A	uc010xgx.2	+	9	1539	c.1539G>A	c.(1537-1539)ggG>ggA	p.G513G		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	513	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		CTGCCTCCGGGGAGGTGCCCT	0.667000														60			36		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86306910	86306910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:86306910C>T	uc001dlj.3	-	41	3697	c.3622G>A	c.(3622-3624)Gaa>Aaa	p.E1208K	COL24A1_uc001dli.3_Missense_Mutation_p.E344K|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.E508K|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.	1208	Collagen-like 13.				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)		CCTACTGGTTCACCTCGAGGC	0.328000														23			20		0	0	1	0	0
S100PBP	64766	broad.mit.edu	37	1	33292157	33292157	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:33292157C>T	uc001bvz.3	+	2	734	c.457C>T	c.(457-459)Cca>Tca	p.P153S	S100PBP_uc001bwa.1_Missense_Mutation_p.P153S|S100PBP_uc001bwb.1_Missense_Mutation_p.P153S|S100PBP_uc001bwc.3_Missense_Mutation_p.P153S|S100PBP_uc001bwd.3_Non-coding_Transcript	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	Homo sapiens S100P binding protein (S100PBP), transcript variant 1, mRNA.	153						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)				ACCATTTAATCCAACAGTTTG	0.393000														93			28		0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135205748	135205748	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:135205748G>A	uc004cbk.3	-	9	1420	c.1237C>T	c.(1237-1239)Cct>Tct	p.P413S	SETX_uc004cbj.3_Missense_Mutation_p.P32S|SETX_uc010mzt.3_Missense_Mutation_p.P32S	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	413			P -> L (in SCAR1).		RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGGACAAAAGGGATGAACCAT	0.408000														71			26		0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55598327	55598327	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:55598327G>A	uc021onw.1	-	30	3681	c.3428C>T	c.(3427-3429)tCc>tTc	p.S1143F	USP24_uc001cyg.4_Missense_Mutation_p.S977F	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	1143	Ser-rich.				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						TGATGACAGGGATGGAGATTT	0.393000														25			23		0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133385072	133385072	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:133385072G>A	uc001ukz.1	-	4	1142	c.583C>T	c.(583-585)Cca>Tca	p.P195S	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.P195S|GOLGA3_uc001ulb.3_Missense_Mutation_p.P195S	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	195	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		AAGTTTTCTGGGTTTAACATG	0.468000														662			168		0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53237949	53237949	+	Silent	SNP	C	T	T	rs140207612		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:53237949C>T	uc001sbc.1	-	5	1039	c.975G>A	c.(973-975)acG>acA	p.T325T		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	325	Coil 2.|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						TCTGGACTTTCGTTTCCTGCA	0.532000														249			95		0	0	1	0	0
LRRC36	55282	broad.mit.edu	37	16	67412536	67412536	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:67412536C>T	uc002esv.3	+	11	1870	c.1851C>T	c.(1849-1851)ctC>ctT	p.L617L	LRRC36_uc002esw.3_Non-coding_Transcript|LRRC36_uc002esx.3_Silent_p.L496L|LRRC36_uc010vjk.2_Silent_p.L392L|LRRC36_uc010vjl.2_Silent_p.L89L	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA.	617										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		AGGAAAACCTCATTTTGTCAG	0.388000														68			17		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45458594	45458594	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:45458594C>T	uc001rol.3	-	0		c.601G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		TAGAGCACCTCTTTTCTCTCT	0.463000														23			10		0	0	1	0	0
CTSG	1511	broad.mit.edu	37	14	25044536	25044536	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:25044536C>T	uc001wpq.3	-	1	175	c.138G>A	c.(136-138)caG>caA	p.Q46Q		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	46	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CACATCTGCTCTGACCTGCTG	0.587000														170			55		0	0	1	0	0
ZNF404	342908	broad.mit.edu	37	19	44377825	44377825	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:44377825G>A	uc002oxs.4	-	1	532	c.532C>T	c.(532-534)Cac>Tac	p.H178Y		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	Homo sapiens zinc finger protein 404 (ZNF404), mRNA.	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				AAATCAGTGTGGATTTTTCGA	0.363000														30			20		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40036908	40036908	+	Silent	SNP	G	A	A	rs149938037	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:40036908G>A	uc003ayc.3	+	5	777	c.777G>A	c.(775-777)ccG>ccA	p.P259P	CACNA1I_uc003ayd.3_Silent_p.P259P|CACNA1I_uc003aye.3_Silent_p.P174P|CACNA1I_uc003ayf.3_Silent_p.P174P	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	259					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACTACCAGCCGGAGGAGGATG	0.602000														45			12		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22554980	22554980	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:22554980C>T	uc001wcz.1	+	1	166	c.106C>T	c.(106-108)Cct>Tct	p.P36S	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_5'UTR					SubName: Full=HADV23S1; Flags: Fragment;																		GAAACAAAGTCCTCAATCTTT	0.413000														43			20		0	0	1	0	0
SLC25A21	89874	broad.mit.edu	37	14	37153057	37153057	+	Missense_Mutation	SNP	G	A	A	rs149535012	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:37153057G>A	uc001wtz.2	-	8	1124	c.814C>T	c.(814-816)Ccc>Tcc	p.P272S	SLC25A21_uc021rsf.1_Missense_Mutation_p.P272S	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.	272					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)		ATAATCTTGGGAAGCAGGCCT	0.343000														54			15		0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890659	55890659	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:55890659G>A	uc001nii.1	+	0	811	c.811G>A	c.(811-813)Gat>Aat	p.D271N		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CTTGGGAAGAGATCAAGTGGC	0.373000														45			39		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121746042	121746042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:121746042C>T	uc010flp.3	+	12	2582	c.2552C>T	c.(2551-2553)tCc>tTc	p.S851F	GLI2_uc002tmq.1_Missense_Mutation_p.S523F|GLI2_uc002tmr.1_Missense_Mutation_p.S506F|GLI2_uc002tmt.4_Missense_Mutation_p.S523F|GLI2_uc002tmu.4_Missense_Mutation_p.S506F	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	851	Ser-rich.				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AACGCGAGCTCCGCTGACTCC	0.751000														15			9		0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402872	248402872	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:248402872C>T	uc010pzh.2	+	0	642	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I214I(2)		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)			TTTCAGTTATCATACTTTCCT	0.473000														63			33		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102025848	102025848	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:102025848G>A	uc001tii.3	+	5	553	c.413G>A	c.(412-414)gGa>gAa	p.G138E	MYBPC1_uc001tif.2_Missense_Mutation_p.G151E|MYBPC1_uc001tig.3_Missense_Mutation_p.G163E|MYBPC1_uc010svr.2_Missense_Mutation_p.G138E|MYBPC1_uc010svs.2_Missense_Mutation_p.G138E|MYBPC1_uc001tij.3_Missense_Mutation_p.G138E|MYBPC1_uc010svt.2_Missense_Mutation_p.G126E|MYBPC1_uc010svu.2_Missense_Mutation_p.G138E|MYBPC1_uc001tik.3_Missense_Mutation_p.G112E|MYBPC1_uc001tih.3_Missense_Mutation_p.G163E|MYBPC1_uc010svq.2_Missense_Mutation_p.G125E	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	138	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	p.K138N(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AACTTTGCAGGAAATTACAGA	0.383000														108			46		0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148583291	148583291	+	Missense_Mutation	SNP	G	A	A	rs145828911		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:148583291G>A	uc003ewm.3	+	1	152	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	34					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.E34*(2)|p.E34K(2)		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)			GCCCCAGGATGAAAAACAAGC	0.383000														53			34		0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33679461	33679461	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:33679461C>T	uc002hjg.4	-	4	2867	c.2620G>A	c.(2620-2622)Gac>Aac	p.D874N	SLFN11_uc010ctr.3_Missense_Mutation_p.D874N|SLFN11_uc010ctp.3_Missense_Mutation_p.D874N|SLFN11_uc010ctq.3_Missense_Mutation_p.D874N|SLFN11_uc002hjh.4_Missense_Mutation_p.D874N	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	874						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATAGCTGGGTCAGCTGTCCTT	0.478000														224			86		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31152236	31152236	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:31152236G>A	uc004dda.1	-	76	11241	c.10997C>T	c.(10996-10998)tCc>tTc	p.S3666F	DMD_uc004dcq.1_Missense_Mutation_p.S937F|DMD_uc004dcr.1_Missense_Mutation_p.S1096F|DMD_uc004dcs.1_Missense_Mutation_p.S1096F|DMD_uc004dct.1_Missense_Mutation_p.S1206F|DMD_uc004dcu.1_Missense_Mutation_p.S1206F|DMD_uc004dcv.1_Missense_Mutation_p.S1193F|DMD_uc004dcw.2_Missense_Mutation_p.S2322F|DMD_uc004dcx.2_Missense_Mutation_p.S2325F|DMD_uc004dcz.2_Missense_Mutation_p.S3543F|DMD_uc004dcy.1_Missense_Mutation_p.S3662F|DMD_uc004ddb.1_Missense_Mutation_p.S3658F|DMD_uc004dcp.1_Missense_Mutation_p.S585F|DMD_uc011mkb.1_Missense_Mutation_p.S488F|DMD_uc004dcm.1_Missense_Mutation_p.S598F|DMD_uc004dcn.1_Missense_Mutation_p.S585F|DMD_uc004dco.1_Missense_Mutation_p.S598F	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3666					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACTAGGGAAGGAGTTGTTGAG	0.468000														25			17		0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205897173	205897173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:205897173G>A	uc001hdp.3	-	8	1072	c.958C>T	c.(958-960)Ccc>Tcc	p.P320S	SLC26A9_uc001hdo.3_5'UTR|SLC26A9_uc001hdq.3_Missense_Mutation_p.P320S	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	320						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)			ACCGGGGTGGGGAACCTGCCG	0.632000														53			9		0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112648058	112648058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:112648058C>T	uc003dzj.1	-	3	732	c.499G>A	c.(499-501)Gga>Aga	p.G167R	CD200R1_uc003dzk.1_Missense_Mutation_p.G144R|CD200R1_uc011bhx.1_Missense_Mutation_p.G122R|CD200R1_uc003dzl.1_Missense_Mutation_p.G167R|CD200R1_uc003dzm.1_Missense_Mutation_p.G144R	NM_138806	NP_620161	Q8TD46	MO2R1_HUMAN	Homo sapiens CD200 receptor 1 (CD200R1), transcript variant 1, mRNA.	144	Ig-like C2-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	p.G167*(3)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						AGGTGATATCCACGATGGAAA	0.428000														108			27		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2046756	2046756	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:2046756G>A	uc003wpx.4	+	18	2521	c.2383G>A	c.(2383-2385)Gag>Aag	p.E795K	MYOM2_uc011kwi.2_Missense_Mutation_p.E220K	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	795	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CGGCATCGGGGAGCCCTCAGA	0.582000														33			7		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26572051	26572051	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:26572051G>A	uc001rhg.3	-	49	7458	c.7041C>T	c.(7039-7041)ctC>ctT	p.L2347L	ITPR2_uc009zjg.1_Silent_p.L498L	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	2347					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CCACGTGATAGAGAAAGGCCA	0.448000														46			15		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151085540	151085540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:151085540C>T	uc003eyp.3	+	21	3458	c.3329C>T	c.(3328-3330)tCt>tTt	p.S1110F	MED12L_uc011bnz.2_Missense_Mutation_p.S970F|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.S273F	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1110					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)			GCACTTCCCTCTCTTCTAGCA	0.453000														123			80		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12164527	12164527	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:12164527C>T	uc003nac.3	+	8	8169	c.7990C>T	c.(7990-7992)Ctg>Ttg	p.L2664L	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.	2664					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)				GTCACAACCTCTGCTGAAGGC	0.552000														41			18		0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5746063	5746063	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:5746063C>T	uc002mda.3	+	8	858	c.797C>T	c.(796-798)tCc>tTc	p.S266F	CATSPERD_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	266						integral to membrane											CTGTTGTTTTCCCATAATGCA	0.602000														210			72		0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154296622	154296622	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:154296622G>A	uc003lvx.3	-	12	1874	c.1791C>T	c.(1789-1791)agC>agT	p.S597S	GEMIN5_uc011ddk.1_Silent_p.S596S	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	597					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)			CCATCAGATAGCTCAATTCTG	0.453000														101			58		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23510112	23510112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:23510112G>A	uc003jgo.3	+	3	459	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	93					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.E93D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGATTCTGATGAAGAATGGAC	0.443000										HNSCC(3;0.000094)				95			24		0	0	1	0	0
ENO2	2026	broad.mit.edu	37	12	7030875	7030875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:7030875G>A	uc001qru.1	+	8	1219	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	ENO2_uc009zfi.1_Missense_Mutation_p.E333K|ENO2_uc010sfq.1_Missense_Mutation_p.E290K|ENO2_uc001qrv.1_Missense_Mutation_p.E333K|ATN1_uc001qrw.1_5'Flank	NM_001975	NP_001966	P09104	ENOG_HUMAN	Homo sapiens enolase 2 (gamma, neuronal) (ENO2), mRNA.	333					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GCGGGCAGTGGAAGAAAAGGC	0.547000														89			38		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48318429	48318429	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:48318429C>T	uc003toq.2	+	17	7662	c.7638C>T	c.(7636-7638)tcC>tcT	p.S2546S	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2546					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						ATTTTATCTCCAATACCAAGG	0.353000														168			29		0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1443052	1443052	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:1443052G>A	uc003jck.3	-	1	387	c.261C>T	c.(259-261)ccC>ccT	p.P87P		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	87					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGCACAGGTAGGGGAACCGCC	0.632000														152			53		0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58125379	58125379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:58125379C>T	uc001spq.3	-	8	2000	c.2000G>A	c.(1999-2001)gGa>gAa	p.G667E	AGAP2_uc001spp.3_Missense_Mutation_p.G667E|AGAP2_uc001spr.3_Missense_Mutation_p.G331E	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	667					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	p.S666S(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TGTTGTCTCTCCCCGACTATC	0.532000														81			27		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076568	9076568	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9076568G>A	uc002mkp.3	-	2	11082	c.10878C>T	c.(10876-10878)gaC>gaT	p.D3626D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3627	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						TAGACATGGAGTCTAATTCAG	0.448000														70			33		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10428595	10428595	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:10428595C>T	uc010coi.3	-	32	4736	c.4608G>A	c.(4606-4608)aaG>aaA	p.K1536K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.K1536K|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.	1536					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						CCACTTGTTTCTTTATTTTCT	0.373000														49			35		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13900318	13900318	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13900318C>T	uc003jfd.2	-	14	2298	c.2256G>A	c.(2254-2256)atG>atA	p.M752I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	752	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)					AGTATACCTTCATGTTACTGA	0.413000									Kartagener syndrome					47			26		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35875685	35875685	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:35875685G>A	uc003jjs.3	+	6	961	c.872G>A	c.(871-873)aGa>aAa	p.R291K	IL7R_uc011coo.2_Missense_Mutation_p.E260K|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	291					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AAGAAACCAAGAAAAGTGAGT	0.413000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							37			6		0	0	1	0	0
POU1F1	5449	broad.mit.edu	37	3	87313549	87313549	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:87313549C>T	uc010hoj.1	-	2	531	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	POU1F1_uc003dqq.1_Missense_Mutation_p.E110K	NM_001122757	NP_001116229	P28069	PIT1_HUMAN	Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA.	110	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)		CGCCTGAGTTCCTGCTTGAAA	0.433000														80			58		0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30408016	30408016	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:30408016C>T	uc002wwq.2	+	2	242	c.140C>T	c.(139-141)cCa>cTa	p.P47L		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	47					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)			GCTCCGGATCCACCCACCCTG	0.597000														96			42		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368579	22368579	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:22368579G>A	uc010tzu.2	+	0	102	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|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.	2					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)		TGAAGAAATGGAAACTGCAAA	0.328000														101			24		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91660864	91660864	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:91660864C>T	uc003ulg.3	+	15	4509	c.4284C>T	c.(4282-4284)atC>atT	p.I1428I	AKAP9_uc003ule.2_Silent_p.I1440I|AKAP9_uc003ulf.3_Silent_p.I1428I|AKAP9_uc003uli.3_Silent_p.I1053I	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1440					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)			AAACAAATATCGTTAAGTTGC	0.289000			T	BRAF	papillary thyroid									174			70		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22157237	22157237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:22157237G>A	uc021urr.1	-	3	748	c.599C>T	c.(598-600)tCc>tTc	p.S200F	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)				ACATTTGTAGGAATTCTCTCT	0.353000														65			12		0	0	1	0	0
C10orf32	119032	broad.mit.edu	37	10	104620124	104620124	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:104620124G>A	uc001kwh.2	+	1	254	c.177G>A	c.(175-177)caG>caA	p.Q59Q	C10orf32_uc001kwi.2_Silent_p.Q59Q|AS3MT_uc001kwj.3_5'UTR	NM_144591	NP_653192	Q96B45	CJ032_HUMAN	Homo sapiens chromosome 10 open reading frame 32 (C10orf32), transcript variant 2, mRNA.	58										large_intestine(1)	1		all_hematologic(284;0.176)|Colorectal(252;0.207)		Epithelial(162;4.32e-09)|all cancers(201;1.14e-07)|BRCA - Breast invasive adenocarcinoma(275;0.217)		TGGTACTCCAGGAAGATGCCA	0.383000														22			27		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179590353	179590353	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179590353G>A	uc021vsy.1	-	67	17071	c.16846C>T	c.(16846-16848)Ctg>Ttg	p.L5616L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L2277L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6543	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)			AGGCTGTTCAGTTTGGAGACA	0.438000														35			10		0	0	1	0	0
IGFALS	3483	broad.mit.edu	37	16	1842307	1842307	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:1842307C>T	uc010uvn.2	-	1	307	c.226G>A	c.(226-228)Ggc>Agc	p.G76S	IGFALS_uc002cmy.3_Missense_Mutation_p.G38S|IGFALS_uc010uvo.2_5'UTR	NM_001146006	NP_001139478	P35858	ALS_HUMAN	Homo sapiens insulin-like growth factor binding protein, acid labile subunit (IGFALS), transcript variant 1, mRNA.	38					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CACGCTGGGCCCTCGGCTTCC	0.716000														42			8		0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109876414	109876414	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:109876414G>A	uc010sxn.1	+	21	2235	c.2235G>A	c.(2233-2235)cgG>cgA	p.R745R	MYO1H_uc010sxo.1_5'Flank	NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GGGCCGTGCGGATTATCAGAA	0.512000														12			8		0	0	1	0	0
TAP1	6890	broad.mit.edu	37	6	32815348	32815348	+	Silent	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:32815348A>T	uc003ocg.3	-	8	2180	c.2025T>A	c.(2023-2025)gcT>gcA	p.A675A	PSMB8_uc003ocf.3_5'Flank|TAP1_uc011dqi.2_Silent_p.A414A	NM_000593	NP_000584	Q03518	TAP1_HUMAN	Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA.	675	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						ACTTTACTGCAGCAGCTGTGA	0.498000														134			50		0	0	1	0	0
KLK8	11202	broad.mit.edu	37	19	51503822	51503822	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:51503822C>T	uc002puq.1	-	2	409	c.223G>A	c.(223-225)Gag>Aag	p.E75K	KLK9_uc002puw.1_Non-coding_Transcript|KLK8_uc002pur.1_Missense_Mutation_p.E30K|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Missense_Mutation_p.E30K|KLK8_uc002puv.1_Intron	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	30	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		ACCTTGTCCTCCTGTGCCCTG	0.632000														62			40		0	0	1	0	0
MAP2K6	5608	broad.mit.edu	37	17	67501925	67501925	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:67501925G>A	uc002jij.3	+	1	309	c.21G>A	c.(19-21)aaG>aaA	p.K7K	MAP2K6_uc002jii.3_Silent_p.K7K|MAP2K6_uc002jik.3_Silent_p.K37K	NM_002758	NP_002749	P52564	MP2K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 6 (MAP2K6), mRNA.	7					DNA damage induced protein phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|cell cycle arrest|innate immune response|muscle cell differentiation|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CCATAGGCAAGAAGCGAAACC	0.433000														114			41		0	0	1	0	0
PXK	54899	broad.mit.edu	37	3	58395827	58395827	+	Missense_Mutation	SNP	G	A	A	rs141886525		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:58395827G>A	uc003djz.1	+	15	1505	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	PXK_uc003djx.1_Missense_Mutation_p.R469Q|PXK_uc003dka.1_Missense_Mutation_p.R469Q|PXK_uc003dkb.1_Missense_Mutation_p.R386Q|PXK_uc003dkc.1_Missense_Mutation_p.R452Q|PXK_uc011bfe.1_Missense_Mutation_p.R436Q|PXK_uc010hnj.1_Missense_Mutation_p.R436Q|PXK_uc003dkd.1_Missense_Mutation_p.R332Q|PXK_uc010hnk.1_Missense_Mutation_p.R243Q	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	Homo sapiens PX domain containing serine/threonine kinase (PXK), mRNA.	469	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	ATP binding|actin binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AAGTCAAAACGATCTGCTCTT	0.403000														71			24		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141259393	141259393	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:141259393G>A	uc002tvj.1	-	54	9685	c.8713C>T	c.(8713-8715)Ccc>Tcc	p.P2905S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2905	LDL-receptor class A 20.				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)		CCTCCACTGGGAATGCACCTG	0.383000										TSP Lung(27;0.18)				46			6		0	0	1	0	0
MEOX2	4223	broad.mit.edu	37	7	15666406	15666406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:15666406C>T	uc003stc.3	-	1	936	c.655G>A	c.(655-657)Gag>Aag	p.E219K		NM_005924	NP_005915	P50222	MEOX2_HUMAN	Homo sapiens mesenchyme homeobox 2 (MEOX2), mRNA.	219					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		ACTGCTATCTCGTATCGCCTC	0.418000														42			7		0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797942	148797942	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:148797942G>A	uc004fdq.3	+	4	951	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	MAGEA11_uc004fdr.3_Missense_Mutation_p.E237K	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	266	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)					GATATTTAGGGAAGCCTCTGT	0.473000														133			117		0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36717946	36717946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:36717946G>A	uc002hqd.3	-	6	1678	c.1453C>T	c.(1453-1455)Ccc>Tcc	p.P485S	SRCIN1_uc002hqf.1_Missense_Mutation_p.P357S|SRCIN1_uc002hqe.2_Missense_Mutation_p.P339S|SRCIN1_uc002hqg.3_5'Flank|SRCIN1_uc002hqh.1_Missense_Mutation_p.P545S	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	357					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GGACCTCCGGGGGGTGCTGCC	0.756000														6			3		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438573	179438573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179438573C>T	uc021vsy.1	-	274	64807	c.64582G>A	c.(64582-64584)Gat>Aat	p.D21528N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D15223N|TTN_uc021vta.1_Missense_Mutation_p.D15156N|TTN_uc021vtb.1_Missense_Mutation_p.D15031N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22455	Fibronectin type-III 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.H21528N(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)			GCACCACTATCCCTTCTTGTT	0.418000														53			22		0	0	1	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16054325	16054325	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:16054325C>T	uc010obo.2	+	8	1985	c.1758C>T	c.(1756-1758)ttC>ttT	p.F586F		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 2 (PLEKHM2), mRNA.	586					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CCTCGGAGTTCAGGTAACAAG	0.572000														11			6		0	0	1	0	0
HSDL2	84263	broad.mit.edu	37	9	115216316	115216316	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:115216316G>A	uc004bga.2	+	8	1144	c.889G>A	c.(889-891)Gag>Aag	p.E297K	HSDL2_uc004bgc.2_Missense_Mutation_p.E224K|HSDL2_uc004bgb.2_Missense_Mutation_p.E131K|HSDL2_uc011lww.2_Missense_Mutation_p.E92K|HSDL2_uc011lwv.2_Missense_Mutation_p.E176K	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	Homo sapiens hydroxysteroid dehydrogenase like 2 (HSDL2), transcript variant 1, mRNA.	297						peroxisome	oxidoreductase activity|sterol binding			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						ATTCAAAGAAGAGAAACTGCA	0.403000														71			22		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51741329	51741329	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:51741329G>A	uc010ufy.2	-	42	9191	c.8966C>T	c.(8965-8967)tCc>tTc	p.S2989F	DMXL2_uc002abd.3_Missense_Mutation_p.S1080F|DMXL2_uc002abf.3_Missense_Mutation_p.S2988F|DMXL2_uc010bfa.3_Missense_Mutation_p.S2352F|DMXL2_uc002abc.3_Non-coding_Transcript	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2988						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCGAAATATGGACTGCTTAGC	0.428000														82			24		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43847842	43847842	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:43847842C>T	uc010skx.2	-	11	1628	c.1628G>A	c.(1627-1629)gGg>gAg	p.G543E		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	543	Disintegrin.					proteinaceous extracellular matrix	zinc ion binding	p.H542P(1)		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)		TACACATAGCCCATGACGGCA	0.373000														19			4		0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84778881	84778881	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:84778881C>T	uc010voe.2	+	4	1057	c.806C>T	c.(805-807)tCa>tTa	p.S269L	USP10_uc002fii.3_Missense_Mutation_p.S265L|USP10_uc010vof.2_Intron|USP10_uc002fij.3_5'UTR	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	265					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GACACCCTGTCAAGGACAGCT	0.592000														32			8		0	0	1	0	0
BTN2A1	11120	broad.mit.edu	37	6	26468536	26468536	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:26468536G>A	uc003nib.2	+	7	1591	c.1343G>A	c.(1342-1344)tGc>tAc	p.C448Y	BTN2A1_uc021yni.1_Intron|BTN2A1_uc003nic.2_3'UTR|BTN2A1_uc011dko.2_Missense_Mutation_p.C387Y	NM_007049	NP_001184162	Q7KYR7	BT2A1_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA.	448	B30.2/SPRY.				lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						GAGTCCCTTTGCCGGGTGGGC	0.532000														65			37		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17017847	17017847	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:17017847G>A	uc002nfb.3	-	29	4115	c.4083C>T	c.(4081-4083)gcC>gcT	p.A1361A		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1314						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.C1360F(1)		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						AGGTAGTCAGGGCACAGCTAT	0.657000														52			21		0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61467656	61467656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:61467656C>T	uc002ydm.3	+	27	1522	c.1519C>T	c.(1519-1521)Cct>Tct	p.P507S	COL9A3_uc002ydn.3_5'Flank	NM_001853	NP_001844	Q14050	CO9A3_HUMAN	Homo sapiens collagen, type IX, alpha 3 (COL9A3), mRNA.	507	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CCCGGGTGTTCCTGGCATCAC	0.637000														95			35		0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85952285	85952285	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:85952285C>T	uc002fjh.3	+	6	921	c.864C>T	c.(862-864)ttC>ttT	p.F288F		NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	288					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				AGGGCGTGTTCGTCAAGCGGC	0.682000														40			21		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42694607	42694607	+	Silent	SNP	C	T	T	rs141373012	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:42694607C>T	uc010ggo.3	+	6	1256	c.1216C>T	c.(1216-1218)Ctg>Ttg	p.L406L	TOX2_uc002xle.4_Silent_p.L364L|TOX2_uc010ggp.3_Silent_p.L364L|TOX2_uc002xlf.4_Silent_p.L388L|TOX2_uc010zwk.2_Silent_p.L284L	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	388	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCACCAGCAGCTGTCACTGCC	0.716000														58			29		0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145948171	145948171	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:145948171G>A	uc003zdv.4	-	4	1130	c.874C>T	c.(874-876)Ccc>Tcc	p.P292S		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q292K(1)		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)		CAGCCAAAGGGTTTTTCTCCA	0.423000														78			37		0	0	1	0	0
ZNF501	115560	broad.mit.edu	37	3	44776077	44776077	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:44776077G>T	uc003cnu.1	+	2	565	c.164G>T	c.(163-165)tGt>tTt	p.C55F	ZNF501_uc021wwq.1_Missense_Mutation_p.C55F	NM_145044	NP_659481	Q96CX3	ZN501_HUMAN	Homo sapiens zinc finger protein 501 (ZNF501), mRNA.	55					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)		TGCAGTGAATGTGGAAGTTGT	0.403000														98			29		3.80469e-20	3.84801e-20	1	1	0
COL10A1	1300	broad.mit.edu	37	6	116442864	116442864	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:116442864C>T	uc003pwm.3	-	2	511	c.415G>A	c.(415-417)Ggc>Agc	p.G139S	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	139	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		CCTGGTGGGCCCCGGGGTCCT	0.607000														25			19		0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1441511	1441511	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:1441511C>T	uc003jck.3	-	2	507	c.381G>A	c.(379-381)ggG>ggA	p.G127G		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	127					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CACCAGCGGCCCCTTCCCTGT	0.597000														104			38		0	0	1	0	0
LBR	3930	broad.mit.edu	37	1	225592349	225592349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:225592349G>A	uc001hoy.3	-	11	1717	c.1543C>T	c.(1543-1545)Ccc>Tcc	p.P515S	LBR_uc001hoz.3_Missense_Mutation_p.P515S	NM_002296	NP_919424	Q14739	LBR_HUMAN	Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA.	515					cholesterol biosynthetic process	integral to nuclear inner membrane	DNA binding|chromo shadow domain binding|delta14-sterol reductase activity|lamin binding|receptor activity	p.P515L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GGATCACTGGGATTTTTCCGG	0.279000														61			18		0	0	1	0	0
QRFPR	84109	broad.mit.edu	37	4	122250649	122250649	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:122250649C>T	uc010inj.1	-	5	1495	c.1116G>A	c.(1114-1116)aaG>aaA	p.K372K	QRFPR_uc010ink.1_Non-coding_Transcript|QRFPR_uc003ids.2_3'UTR	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	Homo sapiens pyroglutamylated RFamide peptide receptor (QRFPR), mRNA.	372						plasma membrane	neuropeptide Y receptor activity	p.R371W(1)		endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						ACTTTGCTTTCTTCCGCATCA	0.388000														222			31		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047708	9047708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9047708G>A	uc002mkp.3	-	4	34127	c.33923C>T	c.(33922-33924)tCa>tTa	p.S11308L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11310	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						AATAGTTGTTGAAATGGCTGA	0.488000														56			21		0	0	1	0	0
PHF16	9767	broad.mit.edu	37	X	46913940	46913940	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:46913940G>A	uc004dgx.3	+	8	1404	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	PHF16_uc004dgy.3_Silent_p.E451E	NM_001077445	NP_055550	Q92613	JADE3_HUMAN	Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA.	451					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CTCCAAAGGAGGATGAAGAAA	0.458000														21			17		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869952	4869952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:4869952G>A	uc010qyo.2	-	0	487	c.487C>T	c.(487-489)Ctc>Ttc	p.L163F		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	163					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)		GGCAGATGGAGACCCAGGCAT	0.557000														94			11		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18328995	18328995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:18328995G>A	uc010xqc.2	-	10	1774	c.1294C>T	c.(1294-1296)Cat>Tat	p.H432Y	PDE4C_uc002nik.4_Missense_Mutation_p.H432Y|PDE4C_uc002nil.4_Missense_Mutation_p.H432Y|PDE4C_uc002nig.4_Missense_Mutation_p.H147Y|PDE4C_uc002nih.4_Missense_Mutation_p.H202Y|PDE4C_uc010ebk.3_Missense_Mutation_p.H326Y|PDE4C_uc002nii.4_Missense_Mutation_p.H400Y|PDE4C_uc002nif.4_Missense_Mutation_p.H201Y|PDE4C_uc010ebl.3_Missense_Mutation_p.H146Y	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	432					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.H432N(2)		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)	ACCCCAGGATGGTCCACGTCG	0.597000														155			130		0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81366325	81366325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:81366325G>A	uc001xux.2	-	5	700	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	CEP128_uc001xuz.2_Missense_Mutation_p.R177C|CEP128_uc001xva.1_Missense_Mutation_p.R177C|CEP128_uc001xuy.1_Missense_Mutation_p.R35C	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	177						centriole|spindle pole		p.R177H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TCTCCAAGGCGAATTTGTTCA	0.408000														162			50		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40692934	40692934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:40692934C>T	uc001rmg.4	+	24	3492	c.3371C>T	c.(3370-3372)tCc>tTc	p.S1124F	LRRK2_uc001rmh.1_Missense_Mutation_p.S746F|LRRK2_uc009zjw.3_5'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1124					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)				GGGATATGCTCCCCCTTGAGA	0.328000														76			22		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13901576	13901576	+	Missense_Mutation	SNP	C	T	T	rs141072655		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13901576C>T	uc003jfd.2	-	13	1879	c.1837G>A	c.(1837-1839)Gat>Aat	p.D613N		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	613	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)					AGAGGAGGATCGTATTTCTGC	0.448000									Kartagener syndrome					31			18		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79387520	79387520	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:79387520G>A	uc003hlb.2	+	49	7628	c.7188G>A	c.(7186-7188)aaG>aaA	p.K2396K		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2395					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						ACTCCCTCAAGGACCGGTTCA	0.532000														42			19		0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2192974	2192974	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:2192974G>T	uc001lvq.3	-	0	62	c.43C>A	c.(43-45)Cgc>Agc	p.R15S	TH_uc001lvp.3_Missense_Mutation_p.R15S|TH_uc001lvr.3_Missense_Mutation_p.R15S|TH_uc010qxj.2_Missense_Mutation_p.R15S|TH_uc001lvs.3_Missense_Mutation_p.R15S|TH_uc001lvt.3_Missense_Mutation_p.R15S|MIR4686_uc021qce.1_5'Flank	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	15					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	ACGGCCCTGCGGAAGCCCTTG	0.692000														113			7		0.248553	0.248931	1	1	0
PGBD1	84547	broad.mit.edu	37	6	28251876	28251876	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:28251876C>T	uc003nky.3	+	1	706	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	PGBD1_uc003nkz.3_Silent_p.L96L	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	96	SCAN box.				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						CCTGACCATCCTGCCCAAGGA	0.542000														133			51		0	0	1	0	0
FBXO27	126433	broad.mit.edu	37	19	39516072	39516072	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:39516072G>A	uc002okh.3	-	5	913	c.831C>T	c.(829-831)atC>atT	p.I277I		NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	Homo sapiens F-box protein 27 (FBXO27), mRNA.	277	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	p.I277I(2)		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)			GGACTCGCACGATCACACTGG	0.587000														70			56		0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165961516	165961516	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:165961516G>A	uc003iqy.1	+	2	462	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	TRIM60_uc010iqx.1_Missense_Mutation_p.E98K|TRIM60_uc021xty.1_Missense_Mutation_p.E98K	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	98						intracellular	zinc ion binding	p.C97F(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TGCCATGTGTGAAAAACACAA	0.428000														75			36		0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140715	143140715	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:143140715A>G	uc011ktg.2	+	0	170	c.170A>G	c.(169-171)aAg>aGg	p.K57R	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	57					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CCTTGTGATAAGTTATTGGTT	0.493000														76			31		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453891	84453891	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:84453891C>T	uc001vlk.3	-	0	2638	c.1752G>A	c.(1750-1752)agG>agA	p.R584R		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	584						integral to membrane		p.A583S(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGGGCGAGATCCTAGCGTACA	0.537000														24			14		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94741824	94741824	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:94741824G>A	uc001ycs.1	+	23	2717	c.2563G>A	c.(2563-2565)Gga>Aga	p.G855R		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	855						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CAAGAGCAGTGGAAGTAAAGA	0.453000														76			30		0	0	1	0	0
MIR493	574450	broad.mit.edu	37	14	101335434	101335434	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:101335434C>T	uc021sca.1	+	0		c.38C>T								Homo sapiens microRNA 493 (MIR493), microRNA.																		GGCTttcattcattcgtttgc	0.577000														170			58		0	0	1	0	0
PNPLA3	80339	broad.mit.edu	37	22	44323028	44323029	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:44323028_44323029CC>GT	uc003bei.1	+	1	574_575	c.401_402CC>GT	c.(400-402)tcc>tGT	p.S134C	PNPLA3_uc010gzm.1_Non-coding_Transcript	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN	Homo sapiens patatin-like phospholipase domain containing 3 (PNPLA3), mRNA.	134	Patatin.				triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity	p.R133R(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				GACTTTCGGTCCAAAGACGAAG	0.510000														113			42		0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61023888	61023888	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:61023888C>T	uc010qif.1	-	8	1113	c.1047G>A	c.(1045-1047)ctG>ctA	p.L349L	FAM13C_uc010qid.2_Silent_p.L244L|FAM13C_uc001jkn.3_Silent_p.L327L|FAM13C_uc001jko.3_Intron|FAM13C_uc010qie.2_Silent_p.L244L|FAM13C_uc001jkp.3_Silent_p.L244L	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	327										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCATCCATTTCAGGACTTCAG	0.453000														45			32		0	0	1	0	0
SLC22A13	9390	broad.mit.edu	37	3	38317122	38317122	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:38317122C>T	uc003chz.3	+	5	1035	c.981C>T	c.(979-981)caC>caT	p.H327H	SLC22A13_uc011aym.1_Non-coding_Transcript|SLC22A13_uc011ayn.1_Silent_p.H327H	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 13 (SLC22A13), mRNA.	327						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TGTTCAGACACCCCCAGCTCC	0.592000														77			39		0	0	1	0	0
C1orf114	57821	broad.mit.edu	37	1	169388305	169388305	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:169388305G>A	uc001gga.1	-	3	1329	c.1161C>T	c.(1159-1161)gtC>gtT	p.V387V	C1orf114_uc001gfz.1_Silent_p.V387V|C1orf114_uc009wvq.1_Silent_p.V387V|C1orf114_uc001ggb.3_Silent_p.V387V	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	387										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					TCATTTCTAAGACCTGCTCTC	0.343000														93			23		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55156545	55156545	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:55156545G>A	uc003han.4	+	21	3277	c.2946G>A	c.(2944-2946)gtG>gtA	p.V982V	PDGFRA_uc003haa.3_Silent_p.V742V	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	982					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.V982V(2)|p.V982M(1)|p.R981R(1)|p.V982L(1)|p.R981P(1)		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)	GCATGCGTGTGGACTCAGACA	0.453000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				73			28		0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564531	66564531	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:66564531G>A	uc002lkk.2	+	7	1352	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	CCDC102B_uc002lki.2_Missense_Mutation_p.E377K|CCDC102B_uc002lkj.1_Missense_Mutation_p.E377K	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	377										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)				GCAGGGACTGGAGAGAGAAAA	0.398000														46			26		0	0	1	0	0
OR12D3	81797	broad.mit.edu	37	6	29342600	29342600	+	Silent	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:29342600C>A	uc003nme.3	-	0	469	c.465G>T	c.(463-465)ctG>ctT	p.L155L		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A154T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						CAGAATGCATCAGAGCGTAAA	0.488000														49			14		2.31682e-05	2.32744e-05	1	1	0
PTPRT	11122	broad.mit.edu	37	20	40944528	40944528	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:40944528G>A	uc002xkg.3	-	11	2158	c.1974C>T	c.(1972-1974)ctC>ctT	p.L658L	PTPRT_uc010ggj.3_Silent_p.L658L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	658	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.S657C(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTAGAGAATCGAGGCTGGAGG	0.517000														123			43		0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40647107	40647107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:40647107C>T	uc002hzs.3	+	12	1558	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F	ATP6V0A1_uc002hzr.3_Missense_Mutation_p.S457F|ATP6V0A1_uc002hzq.3_Missense_Mutation_p.S457F|ATP6V0A1_uc010wgj.2_Missense_Mutation_p.S414F|ATP6V0A1_uc010wgk.2_Missense_Mutation_p.S414F|ATP6V0A1_uc010cyg.3_Missense_Mutation_p.S103F|ATP6V0A1_uc010wgl.2_Missense_Mutation_p.S316F	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	457					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)		GGTGTGTTCTCCATGTACACT	0.413000														263			95		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509479	110509479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:110509479C>T	uc003yne.3	+	64	10681	c.10577C>T	c.(10576-10578)tCc>tTc	p.S3526F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3526					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)			CACAAAATTTCCAGTAAAAAT	0.358000										HNSCC(38;0.096)				41			17		0	0	1	0	0
WDR65	149465	broad.mit.edu	37	1	43675583	43675583	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:43675583C>T	uc021omk.1	+	10	2071	c.1925C>T	c.(1924-1926)aCc>aTc	p.T642I	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.T631I|WDR65_uc001ciq.2_Missense_Mutation_p.T642I|WDR65_uc001cip.2_Missense_Mutation_p.T642I	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	642										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGTCCTATCACCAAGGTGAGC	0.557000														81			27		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74825220	74825220	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:74825220G>A	uc021rwl.1	+	0	1734	c.1734G>A	c.(1732-1734)aaG>aaA	p.K578K	VRTN_uc001xpw.4_Silent_p.K578K	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	578					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						AGCAGGAGAAGGAGGCTGGCA	0.637000														102			30		0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52908780	52908780	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:52908780G>A	uc001san.3	-	8	1882	c.1719C>T	c.(1717-1719)tcC>tcT	p.S573S		NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	573	Ser-rich.|Tail.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ATTTGACGCTGGAGCTGCTAC	0.622000														86			37		0	0	1	0	0
GREM2	64388	broad.mit.edu	37	1	240656759	240656759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:240656759G>A	uc021plf.1	-	0	17	c.17C>T	c.(16-18)tCc>tTc	p.S6F	GREM2_uc001hys.3_Missense_Mutation_p.S6F	NM_022469	NP_071914	Q9H772	GREM2_HUMAN	Homo sapiens gremlin 2 (GREM2), mRNA.	6					BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CAAGGACAGGGAAAGCTTCCA	0.552000														16			15		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878429	24878429	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:24878429C>T	uc001wpf.4	+	3	1747	c.1429C>T	c.(1429-1431)Cca>Tca	p.P477S		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	477					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						CTCGGATCTCCCACAGATAGG	0.512000														53			13		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212587181	212587181	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:212587181G>A	uc002veg.1	-	6	918	c.820C>T	c.(820-822)Caa>Taa	p.Q274*	ERBB4_uc002veh.1_Nonsense_Mutation_p.Q274*|ERBB4_uc010zji.1_Nonsense_Mutation_p.Q274*|ERBB4_uc010zjj.1_Nonsense_Mutation_p.Q274*|ERBB4_uc010fut.1_Nonsense_Mutation_p.Q274*	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.	274	Cys-rich.				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)		TGCTCCAGTTGAAAGGTGGTT	0.388000										TSP Lung(8;0.080)				46			23		0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81381451	81381451	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:81381451G>A	uc003uhl.3	-	4	775	c.610C>T	c.(610-612)Cct>Tct	p.P204S	HGF_uc003uhm.3_Missense_Mutation_p.P199S|HGF_uc003uhn.1_Missense_Mutation_p.P204S|HGF_uc003uho.1_Missense_Mutation_p.P199S|HGF_uc003uhp.3_Missense_Mutation_p.P204S	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	204	Kringle 1.				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						GAACACTGAGGAATGTCACAG	0.458000														46			14		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196661370	196661370	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:196661370C>T	uc002utj.4	-	55	10546	c.10445G>A	c.(10444-10446)gGa>gAa	p.G3482E	DNAH7_uc002uti.4_5'Flank	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3482	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						AACCCATGTTCCTTCCTTGAC	0.418000														46			17		0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7745461	7745461	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:7745461C>T	uc001ijs.3	+	0	226	c.64C>T	c.(64-66)Ccc>Tcc	p.P22S		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	22					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CTTCGAAATCCCCATAAATGG	0.408000														44			21		0	0	1	0	0
CHMP7	91782	broad.mit.edu	37	8	23106782	23106783	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:23106782_23106783CC>TT	uc003xdc.2	+	2	1007_1008	c.359_360CC>TT	c.(358-360)tcc>tTT	p.S120F	CHMP7_uc011kzs.1_Intron|CHMP7_uc003xdd.2_Missense_Mutation_p.S10F	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	Homo sapiens charged multivesicular body protein 7 (CHMP7), mRNA.	120					cellular membrane organization|late endosome to vacuole transport	ESCRT III complex|cytosol	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGCTGGATCTCCTGGGGGGTTG	0.545000														107			50		0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126219702	126219702	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:126219702G>A	uc011lzm.1	-	12	1229	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*	DENND1A_uc011lzl.1_Nonsense_Mutation_p.R146*|DENND1A_uc004bny.1_Intron|DENND1A_uc004bnz.1_Nonsense_Mutation_p.R371*|DENND1A_uc004boa.1_Nonsense_Mutation_p.R371*|DENND1A_uc004bob.1_Nonsense_Mutation_p.R341*|DENND1A_uc004boc.3_Nonsense_Mutation_p.R339*	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	371	dDENN.					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						AGATCTAATCGACCATCAATA	0.428000														130			51		0	0	1	0	0
SLC2A12	154091	broad.mit.edu	37	6	134327999	134327999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:134327999C>T	uc003qem.1	-	2	1689	c.1518G>A	c.(1516-1518)atG>atA	p.M506I		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	506						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)		TGCCCCAGTTCATGCTAGAAG	0.488000														21			13		0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205589679	205589679	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:205589679C>T	uc001hcy.2	-	2	1745	c.495G>A	c.(493-495)ttG>ttA	p.L165L	SLC45A3_uc021pid.1_Non-coding_Transcript|SLC45A3_uc001hcz.3_Silent_p.L165L	NM_001973	NP_001964	Q96JT2	S45A3_HUMAN	Homo sapiens ELK4, ETS-domain protein (SRF accessory protein 1) (ELK4), transcript variant a, mRNA.	0					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CAGTCTTTATCAATTTGAAAA	0.423000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate									72			39		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48818851	48818851	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:48818851C>T	uc002rwp.2	+	2	2104	c.1990C>T	c.(1990-1992)Ccc>Tcc	p.P664S	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.P664S|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.P664S|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.P664S|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.P664S	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	664					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)			CCAAGAAATTCCCTCTGATTG	0.438000														120			45		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73485149	73485149	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:73485149C>T	uc001jrx.4	+	28	3835	c.3445C>T	c.(3445-3447)Cgg>Tgg	p.R1149W	CDH23_uc001jrz.3_Missense_Mutation_p.R1149W|C10orf105_uc001jsb.2_Intron|CDH23_uc001jsc.1_Intron	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1151	Cadherin 11.				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						CAACAACTTCCGGATCCATGT	0.637000														54			30		0	0	1	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77510144	77510144	+	Missense_Mutation	SNP	C	T	T	rs111715869		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:77510144C>T	uc001dhi.3	+	2	692	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S	ST6GALNAC5_uc010ori.2_Intron|ST6GALNAC5_uc009wbw.3_Non-coding_Transcript	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (ST6GALNAC5), mRNA.	173					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.G172fs*21(1)|p.G172G(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CTTCTGGGGCCCCAGCAGCTA	0.622000														122			50		0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45312200	45312200	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:45312200C>T	uc003bfn.3	-	3	675	c.524G>A	c.(523-525)aGc>aAc	p.S175N	PHF21B_uc011aqk.2_Missense_Mutation_p.S163N|PHF21B_uc003bfm.3_Missense_Mutation_p.S13N|PHF21B_uc011aql.2_Missense_Mutation_p.S175N|PHF21B_uc011aqm.1_Missense_Mutation_p.S163N	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	175							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)		GACTTTGATGCTGTCACTGAC	0.657000														98			70		0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39840215	39840215	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:39840215G>A	uc010lwy.1	+	4	641	c.399G>A	c.(397-399)agG>agA	p.R133R	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Intron	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	120					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	p.D132E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						AAGTCTCCAGGAACTTGGGGC	0.468000														23			11		0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67800395	67800395	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:67800395G>A	uc001vik.3	-	1	2870	c.2178C>T	c.(2176-2178)ttC>ttT	p.F726F	PCDH9_uc001vil.3_Silent_p.F726F|PCDH9_uc010thl.2_Silent_p.F726F|PCDH9_uc001vin.3_Silent_p.F726F	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	726	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GATCAATCCGGAATAAGCCTT	0.438000														81			49		0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67212388	67212388	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:67212388G>A	uc010dfa.1	-	7	1521	c.642C>T	c.(640-642)ttC>ttT	p.F214F	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'Flank|ABCA10_uc010dfc.1_Silent_p.F106F	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	214					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TATAGAGTGTGAATATCACCA	0.343000														362			140		0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119419818	119419818	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:119419818G>A	uc001txa.2	+	1	519	c.131_splice	c.e1+1	p.R44_splice		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	44					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						CCGCTGCCAAGGTAATGATCT	0.622000														16			6		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51902109	51902109	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:51902109C>T	uc002iua.2	+	0	1871	c.1715C>T	c.(1714-1716)tCa>tTa	p.S572L	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	572					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATCGGAAATTCAGAAATGTCC	0.388000														125			55		0	0	1	0	0
LCE1E	353135	broad.mit.edu	37	1	152759897	152759897	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:152759897C>T	uc021ozg.1	+	0	122	c.122C>T	c.(121-123)tCt>tTt	p.S41F	LCE1E_uc001fan.3_Missense_Mutation_p.S41F	NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	Homo sapiens late cornified envelope 1E (LCE1E), mRNA.	41	Cys-rich.				keratinization					lung(5)|stomach(1)	6	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;0.206)			CCTCCAGTCTCTTCCTGCTGC	0.662000														188			59		0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184094044	184094044	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:184094044C>T	uc003fol.1	-	1	219	c.4G>A	c.(4-6)Gag>Aag	p.E2K	THPO_uc003fom.2_Missense_Mutation_p.E2K|THPO_uc021xii.1_Missense_Mutation_p.E2K|THPO_uc003fon.3_Missense_Mutation_p.E2K|THPO_uc011bro.2_Missense_Mutation_p.E2K|THPO_uc003fop.3_Missense_Mutation_p.E2K|THPO_uc011brp.2_Missense_Mutation_p.E2K|THPO_uc011brq.2_Missense_Mutation_p.E2K|THPO_uc003for.1_5'Flank|THPO_uc003fos.1_5'Flank|THPO_uc003fot.1_Missense_Mutation_p.E2K|THPO_uc003fou.1_Missense_Mutation_p.E2K	NM_000460	NP_000451	P40225	TPO_HUMAN	Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.	2					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)			CCAGTCAGCTCCATTCTGGCC	0.612000														439			111		0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105615171	105615171	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:105615171G>A	uc001yqg.3	-	14	2335	c.1931C>T	c.(1930-1932)cCc>cTc	p.P644L	JAG2_uc001yqf.3_Missense_Mutation_p.P48L|JAG2_uc001yqh.3_Missense_Mutation_p.P606L	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	644	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ATTGCGGCAGGGCTGGCCCAG	0.692000														16			5		0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14534953	14534953	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:14534953C>T	uc010dln.3	-	3	1318	c.864G>A	c.(862-864)gtG>gtA	p.V288V	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	288										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTAAAAATTTCACCACTTGCT	0.299000														51			8		0	0	1	0	0
OR13J1	392309	broad.mit.edu	37	9	35869520	35869520	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:35869520C>T	uc011lph.2	-	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001004487	NP_001004487	Q8NGT2	O13J1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily J, member 1 (OR13J1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			CCTCCTTGTTCCTCAGGCTGT	0.592000														79			33		0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97427280	97427280	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:97427280C>T	uc002swx.3	+	0	642	c.544C>T	c.(544-546)Ctc>Ttc	p.L182F		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	182					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		p.L182V(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GTTCCTGCCTCTCTGGCTGCA	0.622000														387			169		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124181391	124181391	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:124181391C>T	uc003ehg.3	+	24	4063	c.3936C>T	c.(3934-3936)acC>acT	p.T1312T	KALRN_uc010hrv.1_Silent_p.T1303T|KALRN_uc003ehf.1_Silent_p.T1312T|KALRN_uc011bjy.1_Silent_p.T1303T|KALRN_uc003ehh.1_Silent_p.T658T	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1312	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGGAAATGACCAGTGGTGTGG	0.443000														30			21		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160039886	160039886	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:160039886C>T	uc003lym.1	-	17	3547	c.2700G>A	c.(2698-2700)acG>acA	p.T900T	ATP10B_uc010jit.1_Silent_p.T217T|ATP10B_uc003lyn.3_Silent_p.T458T	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	900					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)			GAGTGGCAATCGTATCTGGAA	0.507000														22			15		0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39768500	39768500	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:39768500C>T	uc002hxg.4	-	0	580	c.441G>A	c.(439-441)gtG>gtA	p.V147V	JUP_uc010wfs.2_Intron|KRT16_uc021txm.1_Silent_p.V147V	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	147	Coil 1A.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CACGGATCTTCACTTCCAGGT	0.577000														227			99		0	0	1	0	0
FTCD	10841	broad.mit.edu	37	21	47574103	47574103	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:47574103G>A	uc002zig.3	-	1	242	c.198C>T	c.(196-198)gcC>gcT	p.A66A	FTCD_uc002zif.3_Silent_p.A66A|FTCD_uc002zih.3_Silent_p.A66A|FTCD_uc010gqf.3_Silent_p.A66A|FTCD_uc010gqg.1_5'UTR			O95954	FTCD_HUMAN	Homo sapiens formiminotransferase cyclodeaminase (FTCD), transcript variant B, mRNA.	66	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	Golgi apparatus|centriole|cytosol	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	AAGCTACCCGGGCAGCGTTGA	0.657000														111			29		0	0	1	0	0
FGF6	2251	broad.mit.edu	37	12	4553315	4553315	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:4553315C>T	uc001qmr.1	-	1	478	c.434G>A	c.(433-435)gGa>gAa	p.G145E		NM_020996	NP_066276	P10767	FGF6_HUMAN	Homo sapiens fibroblast growth factor 6 (FGF6), mRNA.	145					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)			GTACAATCTTCCTTTACTGTT	0.488000														69			26		0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235392677	235392677	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:235392677G>A	uc021pks.1	-	10	1143	c.766C>T	c.(766-768)Cac>Tac	p.H256Y	ARID4B_uc001hwq.3_Missense_Mutation_p.H256Y|ARID4B_uc001hwr.3_Missense_Mutation_p.H256Y|ARID4B_uc001hws.4_Missense_Mutation_p.H256Y|ARID4B_uc001hwu.1_Missense_Mutation_p.H256Y|ARID4B_uc001hwt.4_5'UTR	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CTACTTTTGTGAAATTCAAGT	0.368000														52			30		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36168569	36168570	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:36168569_36168570GG>AA	uc003gsq.2	-	9	2295_2296	c.1957_1958CC>TT	c.(1957-1959)ccc>TTc	p.P653F	ARAP2_uc003gsr.1_Missense_Mutation_p.P653F	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	653	PH 2.				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						ACTCCTGTAGGGAGTGATTATT	0.361000														43			8		0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127336840	127336840	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:127336840C>T	uc003ejp.3	+	11	1986	c.1929C>T	c.(1927-1929)ttC>ttT	p.F643F	MCM2_uc011bkm.2_Silent_p.F513F|MCM2_uc010hsl.3_Intron|MCM2_uc011bkn.2_Silent_p.F596F	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	643	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|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CGCTGACTTTCTCTGAGAACG	0.587000														49			31		0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33482405	33482405	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:33482405C>T	uc002hja.3	+	6	827	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L	UNC45B_uc002hjb.3_Silent_p.L244L|UNC45B_uc002hjc.3_Silent_p.L244L|UNC45B_uc010cto.3_Silent_p.L244L	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	244					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGTCTGCAACCTGCTCCAAGC	0.542000														161			63		0	0	1	0	0
EIF3I	8668	broad.mit.edu	37	1	32691786	32691786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:32691786C>T	uc001bur.4	+	5	798	c.265C>T	c.(265-267)Ctt>Ttt	p.L89F	EIF3I_uc009vuc.3_Missense_Mutation_p.L89F	NM_003757	NP_003748	Q13347	EIF3I_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit I (EIF3I), mRNA.	89						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				GCAGCTGGCCCTTCTCAAGAC	0.517000														121			32		0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78680377	78680377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:78680377G>A	uc003dqe.2	-	24	3768	c.3560C>T	c.(3559-3561)cCt>cTt	p.P1187L	ROBO1_uc003dqc.2_Missense_Mutation_p.P1087L|ROBO1_uc003dqd.2_Missense_Mutation_p.P1142L|ROBO1_uc003dqb.2_Missense_Mutation_p.P1148L|ROBO1_uc010hoh.2_Missense_Mutation_p.P379L|ROBO1_uc011bgl.1_Missense_Mutation_p.P759L	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1187					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGGGGGAGGAGGAAGCAGGTC	0.478000														15			13		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10429022	10429022	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:10429022C>T	uc010coi.3	-	30	4487	c.4359G>A	c.(4357-4359)agG>agA	p.R1453R	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.R1453R|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.	1453					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						TATCGAAGTTCCTTTGCTTTT	0.483000														62			45		0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247150781	247150781	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:247150781G>A	uc009xgu.3	-	3	1221	c.1036C>T	c.(1036-1038)Cat>Tat	p.H346Y	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF695_uc009xgt.2_Intron|ZNF695_uc001ibx.3_Intron|ZNF695_uc001iby.3_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA.	346					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCTCCAGTATGAATTCTTCTA	0.383000														41			21		0	0	1	0	0
PNKD	25953	broad.mit.edu	37	2	219204529	219204529	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:219204529G>A	uc002vhn.3	+	2	404	c.260G>A	c.(259-261)tGg>tAg	p.W87*	PNKD_uc002vhq.3_Nonsense_Mutation_p.W63*	NM_015488	NP_056303	Q8N490	PNKD_HUMAN	Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	87						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCCGCACCTGGCTCGGGTAC	0.602000														44			17		0	0	1	0	0
AFP	174	broad.mit.edu	37	4	74318255	74318255	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:74318255C>T	uc003hgz.1	+	11	1613	c.1566C>T	c.(1564-1566)gtC>gtT	p.V522V	AFP_uc011cbg.1_Silent_p.V296V	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	522	Albumin 3.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAACATATGTCCCTCCTGCAT	0.468000									Alpha-Fetoprotein, Hereditary Persistence of					57			8		0	0	1	0	0
NEK6	10783	broad.mit.edu	37	9	127113138	127113138	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:127113138G>A	uc004boh.3	+	10	1217	c.956G>A	c.(955-957)tGc>tAc	p.C319Y	NEK6_uc004bof.3_Missense_Mutation_p.C303Y|NEK6_uc004bog.3_Missense_Mutation_p.C285Y|NEK6_uc010mwk.3_Missense_Mutation_p.C285Y|NEK6_uc022bnf.1_Missense_Mutation_p.C319Y|NEK6_uc004boi.3_Missense_Mutation_p.C285Y|NEK6_uc022bng.1_Missense_Mutation_p.C310Y|LOC100129034_uc010mwl.3_5'Flank	NM_001145001	NP_055212	Q9HC98	NEK6_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 6 (NEK6), transcript variant 1, mRNA.	285					apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						GTCAGCATGTGCATCTGCCCT	0.552000														78			27		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20685683	20685683	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:20685683C>T	uc010kuh.3	+	8	1140	c.903C>T	c.(901-903)acC>acT	p.T301T	ABCB5_uc003suw.4_5'Flank|ABCB5_uc003suv.4_5'Flank|ABCB5_uc011jyi.1_5'Flank	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	487	ABC transmembrane type-1.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGAATGGAACCTATGGACTTG	0.393000														43			7		0	0	1	0	0
PPYR1	5540	broad.mit.edu	37	10	47087410	47087410	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:47087410C>T	uc001jee.3	+	2	1046	c.627C>T	c.(625-627)caC>caT	p.H209H	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.H209H|PPYR1_uc021ppu.1_Silent_p.H209H	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	209					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						CACTGGCTCACCACCGCACCA	0.577000														145			41		0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101933554	101933554	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:101933554C>T	uc002bxa.2	-	8	1383	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	PCSK6_uc010bpd.3_Missense_Mutation_p.D228N|PCSK6_uc002bwy.3_Missense_Mutation_p.D357N|PCSK6_uc010bpe.3_Missense_Mutation_p.D354N|PCSK6_uc002bxb.2_Missense_Mutation_p.D357N|PCSK6_uc002bxc.1_Missense_Mutation_p.D357N|PCSK6_uc002bxd.1_Missense_Mutation_p.D357N|PCSK6_uc002bxe.3_Missense_Mutation_p.D357N|PCSK6_uc002bxg.1_Missense_Mutation_p.D357N	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	358	Catalytic.				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)			GTGTAGCCATCGCACGAGCAG	0.617000														64			32		0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47918537	47918538	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:47918537_47918538CC>TT	uc002zjo.2	+	4	629_630	c.446_447CC>TT	c.(445-447)ccc>cTT	p.P149L	DIP2A_uc011afy.1_Missense_Mutation_p.P85L|DIP2A_uc011afz.1_Missense_Mutation_p.P149L|DIP2A_uc002zjl.3_Missense_Mutation_p.P149L|DIP2A_uc002zjm.3_Missense_Mutation_p.P149L|DIP2A_uc010gql.3_Missense_Mutation_p.P149L|DIP2A_uc002zjn.3_Missense_Mutation_p.P149L	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	149					multicellular organismal development	nucleus	catalytic activity|transcription factor binding	p.R148Q(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TTACGGCGACCCGGGCGACTCA	0.584000														258			100		0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36594964	36594964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:36594964C>T	uc021qgb.1	+	0	110	c.110C>T	c.(109-111)tCc>tTc	p.S37F	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.S37F	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	37	Interaction with importin alpha-1.				T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CGGGTGAGATCCTTTGAAAAG	0.458000									Familial Hemophagocytic Lymphohistiocytosis					64			24		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26703149	26703149	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:26703149G>A	uc002rhk.3	-	15	1961	c.1834C>T	c.(1834-1836)Ctc>Ttc	p.L612F	OTOF_uc002rhh.3_5'Flank|OTOF_uc002rhi.3_5'Flank|OTOF_uc002rhj.3_5'Flank	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	612					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTCCAAAGAGAAAGAATTCT	0.572000														65			55		0	0	1	0	0
HOXD1	3231	broad.mit.edu	37	2	177054007	177054007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:177054007C>T	uc002ukv.4	+	0	701	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S	HOXD-AS1_uc021vsq.1_5'Flank|HOXD1_uc010fqy.3_Missense_Mutation_p.P160S|HOXD1_uc021vsr.1_Missense_Mutation_p.P160S	NM_024501	NP_078777	Q9GZZ0	HXD1_HUMAN	Homo sapiens homeobox D1 (HOXD1), mRNA.	160						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		CTTCGGCGAACCCGGCCCTTT	0.682000														20			5		0	0	1	0	0
PLAA	9373	broad.mit.edu	37	9	26913937	26913937	+	Missense_Mutation	SNP	G	A	A	rs145325113	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:26913937G>A	uc003zqd.3	-	10	1920	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	PLAA_uc003zqe.2_Missense_Mutation_p.R499C	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	Homo sapiens phospholipase A2-activating protein (PLAA), mRNA.	499					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)		GGTACATAACGACCAGCACCT	0.353000														52			28		0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219513622	219513622	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:219513622G>A	uc002vin.3	-	5	1445	c.1009C>T	c.(1009-1011)Cac>Tac	p.H337Y	ZNF142_uc002vil.3_Missense_Mutation_p.H298Y|ZNF142_uc010fvt.3_Missense_Mutation_p.H174Y|ZNF142_uc002vim.3_Missense_Mutation_p.H174Y	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGACTCTTGTGGTGGGCCTCC	0.562000											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		69			22		0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160240382	160240382	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:160240382C>T	uc003qsy.1	+	17	1569	c.1530C>T	c.(1528-1530)ctC>ctT	p.L510L	PNLDC1_uc003qsx.1_Silent_p.L499L	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	499						integral to membrane|nucleus	nucleic acid binding	p.A509V(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ACTGCCTGCTCCAGTAAGTGA	0.632000														21			15		0	0	1	0	0
EDARADD	128178	broad.mit.edu	37	1	236645580	236645580	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:236645580C>T	uc001hxu.1	+	5	344	c.279C>T	c.(277-279)gaC>gaT	p.D93D	EDARADD_uc001hxv.1_Silent_p.D83D	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	Homo sapiens EDAR-associated death domain (EDARADD), transcript variant A, mRNA.	93					cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TCAGCAAGGACAACTCCTGCA	0.448000														131			16		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62235066	62235066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:62235066G>A	uc001dab.3	+	4	610	c.496G>A	c.(496-498)Gat>Aat	p.D166N	INADL_uc009waf.1_Missense_Mutation_p.D166N|INADL_uc001daa.2_Missense_Mutation_p.D166N|INADL_uc001dad.3_5'Flank	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	166	PDZ 1.				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						CTTCGTGAAGGATGTCCAGCC	0.403000														169			48		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69030803	69030803	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:69030803G>A	uc003xxv.1	+	26	3372	c.3345G>A	c.(3343-3345)agG>agA	p.R1115R		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1115					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACAGCAATAGGAATTCCATCG	0.463000														90			49		0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1846599	1846599	+	Splice_Site	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:1846599C>A	uc003wpr.3	+	15	1736	c.1558_splice	c.e15-1	p.Q520_splice	ARHGEF10_uc003wpq.1_Intron|ARHGEF10_uc003wps.3_Splice_Site_p.Q482_splice|ARHGEF10_uc003wpt.3_Splice_Site_p.Q396_splice|ARHGEF10_uc003wpv.3_Splice_Site_p.Q253_splice|ARHGEF10_uc010lre.3_Splice_Site_p.Q200_splice	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	545	DH.				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)		TCCCCCACAGCAGGAACAGGA	0.642000														56			10		3.86212e-05	3.87864e-05	1	1	0
ZNF99	7652	broad.mit.edu	37	19	22941065	22941065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:22941065G>A	uc021urt.1	-	3	1801	c.1646C>T	c.(1645-1647)tCc>tTc	p.S549F		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.E549D(1)|p.S458Y(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)				AAGGGTTGAGGAATTGTTAAA	0.333000														46			38		0	0	1	0	0
CPM	1368	broad.mit.edu	37	12	69264143	69264143	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:69264143G>A	uc001sup.3	-	4	529	c.468C>T	c.(466-468)ttC>ttT	p.F156F	CPM_uc001sur.3_Silent_p.F156F|CPM_uc001suq.3_Silent_p.F156F	NM_198320	NP_938079	P14384	CBPM_HUMAN	Homo sapiens carboxypeptidase M (CPM), transcript variant 2, mRNA.	156					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			AAGCATCGGGGAAATTTCGAT	0.398000														63			18		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408518	10408518	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:10408518G>A	uc002gmo.3	-	20	2491	c.2397C>T	c.(2395-2397)ttC>ttT	p.F799F	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	799	IQ.					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						CTCTTGCCAAGAACCCTCTGC	0.443000														51			32		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814118	137814118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:137814118G>A	uc002tva.1	+	1	175	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	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)		GCCTCCAAAGGAAAGAAGTTG	0.537000														51			18		0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14020719	14020719	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:14020719C>T	uc002mxo.2	+	1	443	c.144C>T	c.(142-144)ttC>ttT	p.F48F	CC2D1A_uc002mxn.2_Missense_Mutation_p.S8F|CC2D1A_uc002mxp.2_Silent_p.F48F	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	48					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AGGCTGAGTTCTTGGCTTTGG	0.567000														68			45		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19716332	19716332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:19716332C>T	uc002ykw.3	-	10	1248	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	406	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AAGCCCCACTCGTTCTTGTCT	0.383000														165			67		0	0	1	0	0
C8orf80	389643	broad.mit.edu	37	8	27903173	27903173	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:27903173G>A	uc003xgm.4	-	11	1460	c.1317C>T	c.(1315-1317)atC>atT	p.I439I		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	439						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)		TTAACTTAGGGATTTCTGGAA	0.418000														144			55		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52573735	52573735	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:52573735C>T	uc001jjj.3	-	9	1417	c.1229G>A	c.(1228-1230)gGa>gAa	p.G410E	A1CF_uc010qho.2_Missense_Mutation_p.G418E|A1CF_uc010qhn.2_Missense_Mutation_p.G410E|A1CF_uc009xov.3_Missense_Mutation_p.G402E|A1CF_uc001jji.3_Missense_Mutation_p.G402E|A1CF_uc001jjh.3_Missense_Mutation_p.G410E	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	410					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						GACCTGGTATCCTCGACCCAG	0.493000														35			25		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32052275	32052275	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:32052275C>T	uc003nzl.2	-	7	3562	c.3360G>A	c.(3358-3360)ctG>ctA	p.L1120L		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1207	Fibronectin type-III 3.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.L1207L(2)|p.L1120L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCAGGATCCAGGGAGGTGA	0.582000														486			198		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13829789	13829789	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13829789C>T	uc003jfd.2	-	37	6316	c.6274G>A	c.(6274-6276)Gaa>Aaa	p.E2092K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2092	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCAGGGAGTTCCTGCCGTCCG	0.428000									Kartagener syndrome					51			16		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51196700	51196700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:51196700G>A	uc011bds.2	+	10	877	c.854G>A	c.(853-855)aGa>aAa	p.R285K		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	285						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity	p.R284R(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GATATGAAGAGAGATTTGTAT	0.358000														92			67		0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35399233	35399233	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:35399233G>A	uc003zwr.3	+	32	4195	c.3903G>A	c.(3901-3903)atG>atA	p.M1301I	UNC13B_uc003zwq.3_Missense_Mutation_p.M1301I	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	1301	MHD2.				excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GCGTGGTGATGAACACAATGG	0.562000														120			53		0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67325697	67325697	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:67325697C>T	uc002esu.2	-	12	2313	c.2262G>A	c.(2260-2262)gtG>gtA	p.V754V	KCTD19_uc002est.2_Silent_p.V526V|KCTD19_uc010vjj.1_Silent_p.V497V	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	754						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTAGGCTGTCCACCTCACTGG	0.517000														52			22		0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19375274	19375274	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:19375274G>A	uc002zpf.1	-	10	1293	c.1073C>T	c.(1072-1074)tCc>tTc	p.S358F	HIRA_uc011agx.1_Missense_Mutation_p.S224F|HIRA_uc010grn.1_Missense_Mutation_p.S358F|HIRA_uc010gro.2_Missense_Mutation_p.S314F|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	358					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CTCATCCTGGGAGAAGTCGAG	0.572000														28			15		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47906088	47906088	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:47906088A>C	uc003tny.2	-	24	4055	c.4021T>G	c.(4021-4023)Tcc>Gcc	p.S1341A		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1341	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						TGGTTGCAGGAGGCAGTTTTG	0.453000														76			56		0	0	1	0	0
GMPPA	29926	broad.mit.edu	37	2	220370719	220370719	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:220370719C>T	uc002vlv.3	+	10	1293	c.918C>T	c.(916-918)tcC>tcT	p.S306S	GMPPA_uc002vlr.3_Silent_p.S306S	NM_205847	NP_995319	Q96IJ6	GMPPA_HUMAN	Homo sapiens GDP-mannose pyrophosphorylase A (GMPPA), transcript variant 2, mRNA.	306					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CCAACGTCTCCATCGGGAAGG	0.592000														15			7		0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94395286	94395286	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:94395286C>T	uc001ybz.2	+	2	1166	c.841C>T	c.(841-843)Cat>Tat	p.H281Y	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Missense_Mutation_p.H219Y|FAM181A_uc021saz.1_Missense_Mutation_p.H219Y|FAM181A_uc010aus.2_Missense_Mutation_p.H219Y|FAM181A_uc001yca.2_Missense_Mutation_p.H219Y	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	281										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						CTTCCAGTACCATGGACAGCC	0.647000														51			18		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10087955	10087955	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:10087955C>T	uc002mmq.1	-	43	3324	c.3238G>A	c.(3238-3240)Gat>Aat	p.D1080N		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1080	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCACCCACATCCCCCTGCAGA	0.612000														117			45		0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49666122	49666122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:49666122C>T	uc003ozn.2	-	6	606	c.370G>A	c.(370-372)Ggt>Agt	p.G124S	CRISP2_uc003ozr.2_Missense_Mutation_p.G124S|CRISP2_uc003ozo.2_Missense_Mutation_p.G124S|CRISP2_uc003ozm.2_Missense_Mutation_p.G124S|CRISP2_uc003ozp.2_Missense_Mutation_p.G124S|CRISP2_uc003ozq.2_Missense_Mutation_p.G124S|CRISP2_uc003ozl.2_Missense_Mutation_p.G124S	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	124						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GGTCCTACACCATAGACAAAA	0.408000														56			23		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190195259	190195259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:190195259C>T	uc001gse.1	-	5	1146	c.914G>A	c.(913-915)cGa>cAa	p.R305Q	FAM5C_uc010pot.1_Missense_Mutation_p.R203Q	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	305						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)					TTCAGTTATTCGAAGAAGATT	0.373000														25			11		0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692828	20692828	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:20692828G>A	uc010tlc.2	+	0	960	c.960G>A	c.(958-960)aaG>aaA	p.K320K		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		ATGCTCTAAAGAGAGTCCTGG	0.368000														120			41		0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42438057	42438057	+	Missense_Mutation	SNP	C	T	T	rs144729400		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:42438057C>T	uc001zoz.3	-	14	1671	c.1579G>A	c.(1579-1581)Ggg>Agg	p.G527R	PLA2G4F_uc010bcq.3_5'Flank|PLA2G4F_uc001zoy.3_Missense_Mutation_p.G159R|PLA2G4F_uc001zpa.3_Missense_Mutation_p.G278R|PLA2G4F_uc010bcr.3_Missense_Mutation_p.G278R|PLA2G4F_uc010bcs.3_Missense_Mutation_p.G314R	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	527	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		ACATAAGCCCCGTACTTGGGG	0.592000														122			47		0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25021321	25021321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:25021321C>T	uc001upl.3	-	25	3224	c.3118G>A	c.(3118-3120)Gaa>Aaa	p.E1040K		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1040	VWFA.				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	p.I1039T(2)		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)		ATTTGGTCTTCTATCTATTTA	0.418000														54			6		0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234869601	234869601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:234869601C>T	uc002vvh.3	+	11	1584	c.1544C>T	c.(1543-1545)tCc>tTc	p.S515F	TRPM8_uc010fyj.3_Missense_Mutation_p.S203F	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	515						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GCCAAGAATTCCTATAATGAT	0.498000														71			37		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679927	100679927	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100679927C>T	uc003uxp.1	+	2	5283	c.5230C>T	c.(5230-5232)Cct>Tct	p.P1744S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1744	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)					AAACTCAACTCCTAGTGAAGG	0.493000														543			183		0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107332092	107332092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:107332092C>T	uc011lvo.2	+	0	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TTAGTAATTTCCATCTCTTAC	0.418000														112			39		0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95081394	95081394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:95081394G>A	uc001ydp.3	+	1	775	c.616G>A	c.(616-618)Gtc>Atc	p.V206I	SERPINA3_uc001ydo.4_Missense_Mutation_p.V231I|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.V206I|SERPINA3_uc001yds.3_Missense_Mutation_p.V206I	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	206					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GACAATGATGGTCCTGGTGAA	0.478000														161			56		0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28023670	28023670	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:28023670G>A	uc001ity.4	-	4	778	c.553C>T	c.(553-555)Cca>Tca	p.P185S	MKX_uc001itx.4_Missense_Mutation_p.P185S	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	185					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TGGTGAACTGGGGTATTATAG	0.493000														43			34		0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71155062	71155062	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:71155062A>T	uc001oqk.3	-	3	548	c.298T>A	c.(298-300)Tat>Aat	p.Y100N	DHCR7_uc001oql.3_Missense_Mutation_p.Y100N	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	100					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	p.L99L(1)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CACAAGGTATAGAGCTGGGCG	0.627000									Smith-Lemli-Opitz syndrome					21			16		0	0	1	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72334931	72334931	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:72334931C>T	uc010lal.1	-	0		c.4725G>A								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		GGGGCACCACCAAGAGAGGCC	0.587000														64			12		0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637182	248637182	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:248637182G>A	uc001iel.1	+	0	531	c.531G>A	c.(529-531)agG>agA	p.R177R		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	177					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)			GCCAGTCTAGGAAAATCCTGA	0.527000														97			32		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353911	77353911	+	Silent	SNP	G	A	A	rs145904992		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:77353911G>A	uc002ffc.4	-	15	2786	c.2367C>T	c.(2365-2367)ctC>ctT	p.L789L	ADAMTS18_uc010chc.1_Silent_p.L377L|ADAMTS18_uc002ffe.1_Silent_p.L485L	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	789	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCGAACTGCGAGGTAACTGG	0.537000														35			16		0	0	1	0	0
C4orf37	285555	broad.mit.edu	37	4	98480257	98480257	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:98480257C>T	uc003htt.2	-	10	1422	c.1332G>A	c.(1330-1332)gaG>gaA	p.E444E		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	444										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		CTTTCTTTTTCTCCTGGGATA	0.269000														71			36		0	0	1	0	0
TFCP2L1	29842	broad.mit.edu	37	2	122038831	122038831	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:122038831G>A	uc002tmx.3	-	1	172	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S	TFCP2L1_uc010flr.3_Missense_Mutation_p.P27S	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	27	Mediate transcriptional repression.				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)					TTGAAGATGGGCAGAGCGAGC	0.637000														180			76		0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104512783	104512783	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:104512783G>A	uc003hxe.1	-	3	1087	c.946C>T	c.(946-948)Cat>Tat	p.H316Y		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	316						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AAGTAAATATGATAGGGCAGC	0.353000														33			4		0	0	1	0	0
BMP8A	353500	broad.mit.edu	37	1	39988140	39988140	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:39988140G>A	uc001cdi.3	+	4	1280	c.934G>A	c.(934-936)Gac>Aac	p.D312N	PPIEL_uc001cdj.2_Non-coding_Transcript|PPIEL_uc001cdk.3_Non-coding_Transcript	NM_181809	NP_861525	Q7Z5Y6	BMP8A_HUMAN	Homo sapiens bone morphogenetic protein 8a (BMP8A), mRNA.	312					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-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;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGCTTCCAGGACCTTGGCTG	0.562000														147			46		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13701465	13701465	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13701465G>A	uc003jfd.2	-	76	13461	c.13419C>T	c.(13417-13419)ttC>ttT	p.F4473F	DNAH5_uc003jfc.2_Silent_p.F641F	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4473					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)					GTCGGCCATTGAAAACCCACG	0.438000									Kartagener syndrome					92			41		0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11995291	11995291	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:11995291C>T	uc003wvc.1	-	0	979	c.979G>A	c.(979-981)Ggg>Agg	p.G327R	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.	327					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	p.A326V(1)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CAACTCCACCCAGCGTGGACC	0.488000														59			12		0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5906312	5906312	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:5906312C>T	uc010qzs.2	+	0	790	c.790C>T	c.(790-792)Cgt>Tgt	p.R264C	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	264					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)		TATGACACATCGTTTTGGCCA	0.428000														58			10		0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147561220	147561220	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:147561220C>T	uc003ikv.3	+	1	738	c.490C>T	c.(490-492)Cct>Tct	p.P164S		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	164					MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CATCTCGCACCCTTCCGCGTT	0.652000														49			8		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57257937	57257937	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:57257937C>T	uc001cym.4	-	1	955	c.549G>A	c.(547-549)agG>agA	p.R183R	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Silent_p.R183R	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	183										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCAGCTTTTTCCTGGGTTCCT	0.478000														85			28		0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96181211	96181211	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:96181211C>T	uc001tei.3	-	1	540	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	NTN4_uc009ztf.3_Missense_Mutation_p.E31K|NTN4_uc009ztg.3_5'UTR	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	31	Laminin N-terminal.				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						CAGGCTTTTTCACAGCGGGAA	0.512000														103			33		0	0	1	0	0
GPR171	29909	broad.mit.edu	37	3	150916315	150916315	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:150916315G>T	uc003eyq.4	-	2	1099	c.859C>A	c.(859-861)Cac>Aac	p.H287N	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|GPR171_uc021xfy.1_Missense_Mutation_p.H287N	NM_013308	NP_037440	O14626	GP171_HUMAN	Homo sapiens G protein-coupled receptor 171 (GPR171), mRNA.	287						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)			TTTGAGAGGTGATAGTACAGG	0.428000														84			21		5.35356e-11	5.39459e-11	1	1	0
LAMP5	24141	broad.mit.edu	37	20	9510442	9510442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:9510442G>A	uc002wni.2	+	5	1313	c.818G>A	c.(817-819)aGa>aAa	p.R273K	LAMP5_uc010zrc.2_Missense_Mutation_p.R229K	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	273						integral to membrane											CCTCGGGACAGATCCCAGTAT	0.527000														82			12		0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22817085	22817086	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:22817085_22817086CC>TT	uc001bft.2	+	2	1155_1156	c.644_645CC>TT	c.(643-645)ccc>cTT	p.P215L	ZBTB40_uc001bfu.2_Missense_Mutation_p.P215L|ZBTB40_uc009vqi.1_Missense_Mutation_p.P215L	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	215					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		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;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GCTTGTTCCCCCTCCCCTGCTG	0.470000														79			24		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184567	72184567	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:72184567G>A	uc002fcc.4	-	4	748	c.576C>T	c.(574-576)atC>atT	p.I192I	PMFBP1_uc002fcd.3_Silent_p.I192I|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Silent_p.I47I	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	192										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)				CTAGTAACTCGATGTTGCTCA	0.527000														147			35		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61761101	61761101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:61761101G>A	uc002eog.2	-	8	2388	c.1433C>T	c.(1432-1434)tCa>tTa	p.S478L	CDH8_uc002eoh.3_Missense_Mutation_p.S247L	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	478	Cadherin 4.				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)		AGGTACTCGTGATATCTGACT	0.413000														49			8		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	15978113	15978113	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:15978113G>A	uc010lsu.3	-	8	1154	c.1090C>T	c.(1090-1092)Cca>Tca	p.P364S	MSR1_uc003wwz.3_Missense_Mutation_p.P346S|MSR1_uc003wxa.3_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	346	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)		TTCGTAAATGGAGCTGTAAAG	0.413000														31			20		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31319566	31319566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:31319566C>T	uc010dmg.1	+	10	2253	c.2198C>T	c.(2197-2199)tCc>tTc	p.S733F	ASXL3_uc002kxq.2_Missense_Mutation_p.S440F	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	733	Ser-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						TCAGTGTCTTCCATGCTTCTC	0.403000														175			143		0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60814370	60814370	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:60814370C>T	uc010dds.3	-	6	1258	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	MARCH10_uc010ddr.3_Missense_Mutation_p.E287K|MARCH10_uc002jag.4_Missense_Mutation_p.E287K|MARCH10_uc002jah.2_Missense_Mutation_p.E286K|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.	287							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TCATCGCTTTCTCTTCTGCTG	0.473000														299			137		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61525489	61525489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:61525489G>A	uc002ydr.2	-	11	2942	c.2630C>T	c.(2629-2631)tCt>tTt	p.S877F	DIDO1_uc002yds.2_Missense_Mutation_p.S877F|DIDO1_uc002ydt.2_Missense_Mutation_p.S877F|DIDO1_uc002ydu.2_Missense_Mutation_p.S877F	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	877					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.S877F(2)		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)					TTTCTTAACAGAAGCTGACAA	0.512000														249			73		0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189060973	189060973	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:189060973G>A	uc003izm.1	+	0	376	c.261G>A	c.(259-261)caG>caA	p.Q87Q		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	87					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGGTGCTGCAGAGCGAGGATG	0.657000														67			29		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883992	228883992	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:228883992C>T	uc002vpq.2	-	6	1625	c.1578G>A	c.(1576-1578)tcG>tcA	p.S526S	SPHKAP_uc002vpp.2_Silent_p.S526S|SPHKAP_uc010zlx.1_Silent_p.S526S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	526						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGGGAAAGTTCGAGACCACTT	0.502000														106			38		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26348303	26348303	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:26348303C>T	uc003abz.1	+	37	6134	c.5884C>T	c.(5884-5886)Cga>Tga	p.R1962*	MYO18B_uc003aca.1_Nonsense_Mutation_p.R1843*|MYO18B_uc010guy.1_Nonsense_Mutation_p.R1844*|MYO18B_uc010guz.1_Nonsense_Mutation_p.R1842*|MYO18B_uc011aka.1_Nonsense_Mutation_p.R1116*|MYO18B_uc011akb.1_Nonsense_Mutation_p.R1475*|MYO18B_uc010gva.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1962	Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CACCGTGGATCGAGCCATCGT	0.507000														21			8		0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2592627	2592627	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:2592627C>T	uc001lwn.3	+	3	785	c.677C>T	c.(676-678)gCc>gTc	p.A226V	KCNQ1_uc009ydp.1_Intron|KCNQ1_uc001lwo.3_Missense_Mutation_p.A99V	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	226					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GCCACGTCGGCCATCAGGTGC	0.677000														243			41		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74621525	74621525	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:74621525T>A	uc001dfy.4	-	3	791	c.599A>T	c.(598-600)aAt>aTt	p.N200I	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.	200										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						TTTAATATTATTAATTTCCTC	0.234000														35			19		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589279	140589279	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140589279G>A	uc003liz.3	+	0	989	c.800G>A	c.(799-801)tGg>tAg	p.W267*	PCDHB12_uc011dak.2_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	267	Cadherin 3.				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)			GTCTCAGCCTGGGATTTAGAC	0.428000														214			107		0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	118975183	118975183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:118975183G>A	uc003ibx.3	+	1	521	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	NDST3_uc011cgf.1_Missense_Mutation_p.E40K|NDST3_uc003ibw.3_Missense_Mutation_p.E40K	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	40	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTACAAACAGGAAAATGAACT	0.423000														54			11		0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200818995	200818995	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:200818995C>T	uc001gvl.3	+	11	3401	c.3131C>T	c.(3130-3132)tCc>tTc	p.S1044F	CAMSAP2_uc001gvk.3_Missense_Mutation_p.S1033F|CAMSAP2_uc001gvm.3_Missense_Mutation_p.S1017F	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	1044						cytoplasm|microtubule	protein binding										TTAAAGGAATCCAAACCTAAA	0.403000														114			30		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92731217	92731217	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:92731217G>A	uc003umf.3	-	2	4464	c.4194C>T	c.(4192-4194)atC>atT	p.I1398I	SAMD9_uc003umg.3_Silent_p.I1398I|SAMD9_uc022ahg.1_Silent_p.I1398I	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1398						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)			AGGTAGGTTGGATACAGGAGA	0.368000														132			52		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480497	73480497	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:73480497G>A	uc003xzb.3	+	1	1116	c.528G>A	c.(526-528)agG>agA	p.R176R		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	176					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)			CTGATAAAAGGAAGAAACTGT	0.443000														97			34		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93964437	93964437	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:93964437C>T	uc003poe.3	-	13	2701	c.2460G>A	c.(2458-2460)tgG>tgA	p.W820*	EPHA7_uc003pof.3_Nonsense_Mutation_p.W815*|EPHA7_uc011eac.2_Nonsense_Mutation_p.W816*	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	820	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)		TTCCATAGCTCCATACATCAC	0.388000														17			15		0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48385458	48385458	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:48385458G>A	uc002phr.2	-	2	495	c.355C>T	c.(355-357)Ctc>Ttc	p.L119F		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA.	119				L -> D (in Ref. 1; AA sequence).	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)		TTTCTCATGAGATAAATCACC	0.328000														57			49		0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6302730	6302730	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:6302730C>T	uc003wqi.3	+	7	1563	c.1487C>T	c.(1486-1488)tCg>tTg	p.S496L	MCPH1_uc003wqh.3_Missense_Mutation_p.S496L|MCPH1_uc011kwl.2_Missense_Mutation_p.S448L	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	496						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CGTGCAACTTCGAGTTGCGTG	0.478000														83			50		0	0	1	0	0
RPH3AL	9501	broad.mit.edu	37	17	131580	131580	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:131580C>T	uc002fre.2	-	5	760	c.417G>A	c.(415-417)aaG>aaA	p.K139K	RPH3AL_uc010vpy.2_Silent_p.K139K|RPH3AL_uc021tmx.1_Silent_p.K139K|RPH3AL_uc002frf.2_Intron|RPH3AL_uc010cjl.2_Intron	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	Homo sapiens rabphilin 3A-like (without C2 domains) (RPH3AL), transcript variant 1, mRNA.	139	RabBD.				exocytosis|intracellular protein transport	transport vesicle membrane	Rab GTPase binding|cytoskeletal protein binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CACTGCAGATCTTACACAGCC	0.592000														59			57		0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45679415	45679415	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:45679415G>A	uc002zeg.1	-	4	733	c.249C>T	c.(247-249)gcC>gcT	p.A83A	DNMT3L_uc002zeh.1_Silent_p.A83A	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	83	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		ACAGGAAGAGGGCATCCAGGA	0.592000														108			44		0	0	1	0	0
AK302306	0	broad.mit.edu	37	15	28600110	28600110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:28600110C>T	uc010uaf.1	-	2	238	c.220G>A	c.(220-222)Gag>Aag	p.E74K	DQ595648_uc021sgj.1_5'Flank					SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ59579, weakly similar to Homo sapiens golgi autoantigen, golgin subfamily a-like, mRNA;																		ACCTCTAGCTCCCTCCTTAGG	0.512000														70			11		0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38525490	38525490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:38525490G>A	uc003auy.1	-	7	1293	c.1157C>T	c.(1156-1158)cCt>cTt	p.P386L	PLA2G6_uc003auz.1_Missense_Mutation_p.P386L|PLA2G6_uc003ava.1_Missense_Mutation_p.P386L|PLA2G6_uc003avb.2_Missense_Mutation_p.P386L|PLA2G6_uc010gxk.1_Non-coding_Transcript|PLA2G6_uc011ano.1_Missense_Mutation_p.P351L	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	386					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TAGGAATGTAGGAGTCTCCCC	0.557000														106			58		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2037960	2037960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:2037960G>A	uc003wpx.4	+	14	1912	c.1774G>A	c.(1774-1776)Ggc>Agc	p.G592S	MYOM2_uc011kwi.2_Missense_Mutation_p.G17S	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	592	Fibronectin type-III 2.				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)		AAACCGGCATGGCCTGAGCGA	0.572000														70			29		0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5363955	5363955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:5363955G>A	uc001map.1	-	0	800	c.800C>T	c.(799-801)cCa>cTa	p.P267L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.P267L	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	267					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)		AACAATATGTGGAACCTGCTT	0.408000														46			18		0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33123776	33123776	+	Missense_Mutation	SNP	G	A	A	rs143370393	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:33123776G>A	uc001iwm.1	+	11	1279	c.1043G>A	c.(1042-1044)gGa>gAa	p.G348E	C10orf68_uc001iwl.1_Missense_Mutation_p.G331E|C10orf68_uc001iwn.4_Missense_Mutation_p.G372E|C10orf68_uc010qei.1_Missense_Mutation_p.G320E|C10orf68_uc001iwo.4_Non-coding_Transcript	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	371										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GGTGTTAATGGAAAAGATATA	0.323000														5			4		0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6923361	6923361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:6923361G>A	uc001qqv.2	+	3	526	c.268G>A	c.(268-270)Gga>Aga	p.G90R	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Missense_Mutation_p.G35R|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	90	Ig-like V-type.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	p.G90E(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				TTGGGACCAAGGAAACTTTCC	0.498000														157			42		0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6292693	6292693	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:6292693G>A	uc001mcp.3	+	4	1519	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	CCKBR_uc001mcq.3_Missense_Mutation_p.D350N|CCKBR_uc001mcr.3_Missense_Mutation_p.D405N|CCKBR_uc001mcs.3_Missense_Mutation_p.D491N	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	422					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GGCTCTTCCCGATGAGGACCC	0.657000														106			18		0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10583914	10583914	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:10583914G>A	uc011kwz.2	-	5	690	c.657C>T	c.(655-657)ccC>ccT	p.P219P	BC043573_uc003wtg.1_5'Flank|SOX7_uc003wtf.3_Silent_p.P167P	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	167					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)		GGGCAGTGCCGGGGGAGTACT	0.726000														42			15		0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83251033	83251033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:83251033C>T	uc001szt.3	+	1	760	c.328C>T	c.(328-330)Ctt>Ttt	p.L110F	TMTC2_uc001szr.1_Missense_Mutation_p.L110F|TMTC2_uc001szs.1_Missense_Mutation_p.L110F|TMTC2_uc010suk.2_Intron	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	110						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CAAGATCCTCCTTGGTGATGG	0.532000														128			38		0	0	1	0	0
RHBDD3	25807	broad.mit.edu	37	22	29656093	29656093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:29656093C>T	uc003aeq.1	-	6	1489	c.1117G>A	c.(1117-1119)Gga>Aga	p.G373R		NM_012265	NP_036397	Q9Y3P4	RHBD3_HUMAN	Homo sapiens rhomboid domain containing 3 (RHBDD3), mRNA.	373						integral to membrane	serine-type endopeptidase activity			lung(1)|ovary(1)	2						CCACCCTTTCCATGGGTCACC	0.672000														10			4		0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35579937	35579937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:35579937C>T	uc001bym.3	+	9	2652	c.2506C>T	c.(2506-2508)Cat>Tat	p.H836Y	ZMYM1_uc001byn.3_Missense_Mutation_p.H836Y|ZMYM1_uc010ohu.2_Missense_Mutation_p.H817Y|ZMYM1_uc001byo.3_Missense_Mutation_p.H476Y|ZMYM1_uc009vut.3_Missense_Mutation_p.H761Y	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	836						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TATAGCAAGCCATTCTTCAAA	0.353000														91			21		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21826324	21826324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:21826324C>T	uc003svc.3	+	59	9732	c.9701C>T	c.(9700-9702)gCt>gTt	p.A3234V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3234	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTCCTTCTGGCTCCTCGGGGA	0.502000									Kartagener syndrome					93			13		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156812213	156812213	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:156812213G>A	uc010pht.2	-	17	3513	c.3214C>T	c.(3214-3216)Cga>Tga	p.R1072*	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1072	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)					CGCAAAGATCGAAGATGGCTC	0.592000														148			84		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4759072	4759072	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:4759072G>A	uc003bqc.3	+	38	5430	c.5080G>A	c.(5080-5082)Gat>Aat	p.D1694N	ITPR1_uc021wsi.1_Intron|ITPR1_uc021wsj.1_Intron|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1709					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TGATGAATTGGATAATGCTGA	0.393000														254			179		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23110979	23110979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:23110979G>A	uc009vqj.1	+	2	366	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	EPHB2_uc001bge.3_Missense_Mutation_p.R74Q|EPHB2_uc001bgf.3_Missense_Mutation_p.R74Q|EPHB2_uc010odu.2_Missense_Mutation_p.R74Q	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	74					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)		AACTGGCTACGGACCAAGTTT	0.587000														58			25		0	0	1	0	0
PPP3R2	5535	broad.mit.edu	37	9	104357120	104357120	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:104357120C>T	uc004bbr.3	-	0	164	c.93G>A	c.(91-93)aaG>aaA	p.K31K	GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA.	28	EF-hand 1.						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)	AGTCCAACTTCTTAAACCTCC	0.547000														136			55		0	0	1	0	0
PROL1	58503	broad.mit.edu	37	4	71275418	71275418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:71275418C>T	uc003hfi.3	+	2	547	c.373C>T	c.(373-375)Cct>Tct	p.P125S		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	125	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACCCCCATTTCCTCCTATTCC	0.413000														151			52		0	0	1	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60217681	60217681	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:60217681A>G	uc002lip.4	+	4	1301	c.1301A>G	c.(1300-1302)gAg>gGg	p.E434G	ZCCHC2_uc002lio.2_Non-coding_Transcript	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	434					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CCTGACCTAGAGCCCATCCTA	0.493000														11			9		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27205036	27205036	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:27205036G>A	uc011lno.2	+	12	2650	c.2208G>A	c.(2206-2208)agG>agA	p.R736R	TEK_uc003zqi.4_Silent_p.R779R|TEK_uc011lnp.2_Silent_p.R632R|TEK_uc003zqj.1_Silent_p.R713R	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	779					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ATGTGCAAAGGAGAATGGCCC	0.463000														50			18		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7649613	7649613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:7649613C>T	uc001qsz.3	-	4	1023	c.895G>A	c.(895-897)Gat>Aat	p.D299N	CD163_uc001qta.3_Missense_Mutation_p.D299N|CD163_uc009zfw.2_Missense_Mutation_p.D299N	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	299	SRCR 3.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.D299H(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ACAGCAGCATCGTAACTGTCC	0.502000														47			30		0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960860	143960860	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:143960860C>T	uc010mey.3	-	1	283	c.276G>A	c.(274-276)agG>agA	p.R92R	CYP11B1_uc003yxi.3_Intron|CYP11B1_uc003yxj.3_Intron	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	80					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.M92T(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GTGCTGCACTCCTTCCCCATC	0.642000									Familial Hyperaldosteronism type I					65			20		0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62672511	62672511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:62672511G>A	uc021ooc.1	+	3	646	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	L1TD1_uc001dae.4_Missense_Mutation_p.E71K	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	71										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						ggagatgagggaaactcttaa	0.373000														44			14		0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151338846	151338846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:151338846G>A	uc010pcy.2	-	6	1004	c.874C>T	c.(874-876)Ccc>Tcc	p.P292S	SELENBP1_uc001exx.3_Missense_Mutation_p.P250S|SELENBP1_uc010pcz.2_Missense_Mutation_p.P188S|SELENBP1_uc001eya.3_Missense_Mutation_p.P186S	NM_003944	NP_003935	Q13228	SBP1_HUMAN	Homo sapiens selenium binding protein 1 (SELENBP1), mRNA.	250					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|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)			ATCTCCAAGGGAATAAGCCCA	0.572000														210			123		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23768836	23768836	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:23768836C>T	uc003sws.4	+	5	518	c.451C>T	c.(451-453)Cct>Tct	p.P151S	STK31_uc003swt.4_Missense_Mutation_p.P128S|STK31_uc011jze.2_Missense_Mutation_p.P151S|STK31_uc010kuq.3_Missense_Mutation_p.P128S	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	151							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						ACTACACATTCCTTCTGATCA	0.328000														44			27		0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717586	142717586	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:142717586C>T	uc022cfm.1	-	0	1339	c.1339G>A	c.(1339-1341)Ggt>Agt	p.G447S	SLITRK4_uc022cfl.1_Missense_Mutation_p.G447S|SLITRK4_uc004fbx.3_Missense_Mutation_p.G447S|SLITRK4_uc004fby.3_Missense_Mutation_p.G447S	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	447						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)					TTATGAAGACCTGAAAATATT	0.368000														60			43		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1055172	1055172	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:1055172C>T	uc002lqw.4	+	29	4258	c.4027C>T	c.(4027-4029)Cca>Tca	p.P1343S	ABCA7_uc010dsb.1_Missense_Mutation_p.P1205S|ABCA7_uc002lqy.3_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1343					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)		GTCTCCATCCCCAGCCTGCCA	0.682000														28			7		0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30676091	30676091	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:30676091G>A	uc003nrg.4	-	7	2705	c.2265C>T	c.(2263-2265)ttC>ttT	p.F755F	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Intron	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	755				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTCTCAGACAGAATGGCTGTG	0.557000								Other conserved DNA damage response genes						74			24		0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48185152	48185152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:48185152C>T	uc001ngp.4	+	22	4056	c.3701C>T	c.(3700-3702)cCg>cTg	p.P1234L		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	1234	Tyrosine-protein phosphatase.			P -> E (in Ref. 5; no nucleotide entry).	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						CCCGAATCGCCGATTCTGGTG	0.493000														49			12		0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134920399	134920399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:134920399G>A	uc003eqt.3	+	11	2589	c.2214G>A	c.(2212-2214)atG>atA	p.M738I	EPHB1_uc003equ.3_Missense_Mutation_p.M299I	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	738	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						TGGCTGAGATGAATTATGTGC	0.527000														155			103		0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164247687	164247687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:164247687G>A	uc003iqm.2	-	1	485	c.20C>T	c.(19-21)tCc>tTc	p.S7F	NPY1R_uc021xtv.1_Missense_Mutation_p.S7F|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	7					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.F6Y(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTCAACCTGGGAAAATAATGT	0.358000														47			25		0	0	1	0	0
DNAH14	127602	broad.mit.edu	37	1	225142737	225142737	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:225142737G>A	uc001how.2	+	2	369	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	DNAH14_uc001hou.4_Missense_Mutation_p.E52K|DNAH14_uc001hot.4_Missense_Mutation_p.E52K|DNAH14_uc001hov.4_Missense_Mutation_p.E52K	NM_001373	NP_001364	Q0VDD8	DYH14_HUMAN	Homo sapiens dynein, axonemal, heavy chain 14 (DNAH14), transcript variant 1, mRNA.	229					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						AGCAGAAAAGGAAACATTGGA	0.299000														113			47		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149226818	149226818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:149226818C>T	uc002twm.4	+	8	2303	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	436						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)		CTCCCTGTCCCCTTCTCCAGT	0.488000														43			19		0	0	1	0	0
TMTC4	84899	broad.mit.edu	37	13	101287406	101287406	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:101287406G>A	uc001vot.3	-	10	1559	c.1246C>T	c.(1246-1248)Ccc>Tcc	p.P416S	TMTC4_uc001vou.3_Missense_Mutation_p.P397S|TMTC4_uc010tja.2_Missense_Mutation_p.P286S|TMTC4_uc001vov.1_Missense_Mutation_p.P142S|TMTC4_uc001vow.1_Missense_Mutation_p.P180S	NM_032813	NP_001073137	Q5T4D3	TMTC4_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 4 (TMTC4), transcript variant 1, mRNA.	397						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTACTCGCGGGGAGAAATGGG	0.488000														17			23		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156915375	156915375	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:156915375C>T	uc003lwz.3	-	20	2527	c.2448G>A	c.(2446-2448)agG>agA	p.R816R	ADAM19_uc003lww.2_Silent_p.R549R|ADAM19_uc003lwy.3_Silent_p.R415R|ADAM19_uc011ddr.1_Silent_p.R747R	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	816					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)			CTGGGGAGTTCCTAGCAGCCC	0.652000														80			59		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44084328	44084328	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:44084328C>T	uc001cjr.3	+	25	4739	c.4399C>T	c.(4399-4401)Cgt>Tgt	p.R1467C	PTPRF_uc001cjs.3_Missense_Mutation_p.R1458C|PTPRF_uc001cju.3_Missense_Mutation_p.R856C|PTPRF_uc009vwt.3_Missense_Mutation_p.R1027C|PTPRF_uc001cjv.3_Missense_Mutation_p.R938C|PTPRF_uc001cjw.3_Missense_Mutation_p.R693C	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1467	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)				CTGGCCAGCCCGTGGCACCGA	0.597000														155			65		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93796735	93796735	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:93796735G>A	uc001pep.2	+	2	634	c.477G>A	c.(475-477)ggG>ggA	p.G159G		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	159	Plastocyanin-like 1.				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)				TTCCTCCTGGGAAAAACTACA	0.458000														8			8		0	0	1	0	0
PGM1	5236	broad.mit.edu	37	1	64125271	64125272	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:64125271_64125272CC>TA	uc010ooz.2	+	10	1913_1914	c.1668_1669CC>TA	c.(1666-1671)cccctt>ccTAtt	p.L557I	PGM1_uc001dbh.3_Missense_Mutation_p.L539I|PGM1_uc010ooy.2_Missense_Mutation_p.L342I	NM_001172818	NP_001166290	P36871	PGM1_HUMAN	Homo sapiens phosphoglucomutase 1 (PGM1), transcript variant 2, mRNA.	539					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTTGGCCCCCCTTATTTCCAT	0.520000														71			30		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19591224	19591224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:19591224C>T	uc003jgd.3	-	6	1475	c.941G>A	c.(940-942)gGa>gAa	p.G314E	CDH18_uc011cnm.2_Missense_Mutation_p.G314E|CDH18_uc003jgc.3_Missense_Mutation_p.G314E|CDH18_uc021xwu.1_Missense_Mutation_p.G314E	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	314	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)					TGAGAATATTCCCATGCCATC	0.408000														52			22		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14775762	14775762	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:14775762G>A	uc003ssz.3	-	3	413	c.226C>T	c.(226-228)Cct>Tct	p.P76S	DGKB_uc011jxt.2_Missense_Mutation_p.P69S|DGKB_uc003sta.3_Missense_Mutation_p.P76S|DGKB_uc011jxu.2_Missense_Mutation_p.P76S|DGKB_uc011jxv.1_Missense_Mutation_p.P76S	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	76					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)	AAATCATCAGGAAGCTCGGCT	0.368000														32			5		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235866213	235866213	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:235866213A>G	uc001hxj.2	-	44	10383	c.10208T>C	c.(10207-10209)aTg>aCg	p.M3403T	LYST_uc001hxi.2_Missense_Mutation_p.M627T	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	3403	BEACH.				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)			GGTTTTTATCATGGTTTCTAG	0.478000														231			65		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16269830	16269830	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:16269830C>T	uc002den.4	-	19	2641	c.2604G>A	c.(2602-2604)ggG>ggA	p.G868G	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	868					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TGGTGCTGGTCCCAGGTTCTG	0.592000														79			38		0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270696	1270696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:1270696C>T	uc002cks.3	+	34	7012	c.6764C>T	c.(6763-6765)tCc>tTc	p.S2255F	CACNA1H_uc002ckt.3_Missense_Mutation_p.S2249F|CACNA1H_uc002cku.3_Missense_Mutation_p.S950F|CACNA1H_uc010brj.3_Missense_Mutation_p.S966F|CACNA1H_uc002ckv.3_Missense_Mutation_p.S944F	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2255					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)	GGCCAGGCCTCCTGCCGGGCT	0.697000														25			15		0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30885920	30885920	+	Silent	SNP	C	T	T	rs148964604		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:30885920C>T	uc003cep.2	-	6	737	c.690G>A	c.(688-690)ggG>ggA	p.G230G	GADL1_uc003ceq.1_Silent_p.G230G	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	230					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)	CAGTGCCAATCCCAAGAAAAG	0.433000														131			99		0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121659684	121659684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:121659684G>A	uc003eep.2	+	21	2173	c.2020G>A	c.(2020-2022)Gaa>Aaa	p.E674K	SLC15A2_uc011bjn.1_Missense_Mutation_p.E643K	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	674					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)	GCAGTGGGCCGAATTCATTTT	0.473000														134			62		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69816878	69816878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:69816878C>T	uc003hef.2	-	0	632	c.601G>A	c.(601-603)Gac>Aac	p.D201N	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	201						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						GTCATTCTGTCTGTTAGTCCT	0.408000														15			4		0	0	1	0	0
SLC10A7	84068	broad.mit.edu	37	4	147438251	147438251	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:147438251G>A	uc010ioz.2	-	1	376	c.122C>T	c.(121-123)aCt>aTt	p.T41I	SLC10A7_uc003ikr.2_Missense_Mutation_p.T41I|SLC10A7_uc010ipa.2_Missense_Mutation_p.T41I|SLC10A7_uc003iks.2_Non-coding_Transcript|SLC10A7_uc003ikt.3_Missense_Mutation_p.T41I|SLC10A7_uc003iku.4_Non-coding_Transcript	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 7 (SLC10A7), transcript variant 2, mRNA.	41						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					GTAGGATACAGTTATTTCTGG	0.348000														201			97		0	0	1	0	0
RHCE	6006	broad.mit.edu	37	1	25715541	25715541	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:25715541G>A	uc001bkf.3	-	5	951	c.865C>T	c.(865-867)Cct>Tct	p.P289S	RHCE_uc001bkg.3_Missense_Mutation_p.P289S|RHCE_uc001bkh.3_Missense_Mutation_p.P184S|RHCE_uc001bki.3_Intron|RHCE_uc001bkj.3_Missense_Mutation_p.P273S	NM_020485	NP_065231	P18577	RHCE_HUMAN	Homo sapiens Rh blood group, CcEe antigens (RHCE), transcript variant 1, mRNA.	289						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)		CACGGAGAAGGGATCAGGTGA	0.557000														74			25		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13817791	13817791	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13817791G>A	uc003jfd.2	-	41	6896	c.6854C>T	c.(6853-6855)cCa>cTa	p.P2285L		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2285	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)					TTCCCGATGTGGTTTTCCACA	0.423000									Kartagener syndrome					64			28		0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17445691	17445691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:17445691C>T	uc002zlw.3	-	7	1549	c.1441G>A	c.(1441-1443)Gac>Aac	p.D481N		NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	481										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)				TCTTCTGAGTCTGTGTTGGTG	0.567000														106			50		0	0	1	0	0
FAM89A	375061	broad.mit.edu	37	1	231155615	231155615	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:231155615G>A	uc001hui.2	-	1	587	c.549C>T	c.(547-549)tcC>tcT	p.S183S	FAM89A_uc021pkk.1_Non-coding_Transcript	NM_198552	NP_940954	Q96GI7	FA89A_HUMAN	Homo sapiens family with sequence similarity 89, member A (FAM89A), mRNA.	183										endometrium(1)|upper_aerodigestive_tract(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CCCTCTAGATGGACTCCAGAA	0.577000														35			22		0	0	1	0	0
CHN1	1123	broad.mit.edu	37	2	175742774	175742774	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:175742774C>T	uc002uji.3	-	5	684	c.343G>A	c.(343-345)Gat>Aat	p.D115N	CHN1_uc010zeq.2_Missense_Mutation_p.D115N|CHN1_uc002ujj.3_Intron	NM_001822	NP_001813	P15882	CHIN_HUMAN	Homo sapiens chimerin (chimaerin) 1 (CHN1), transcript variant 1, mRNA.	115	SH2.				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)			GTCACCAGATCGTGGATGGAC	0.438000			T	TAF15	extraskeletal myxoid chondrosarcoma									79			32		0	0	1	0	0
SOX3	6658	broad.mit.edu	37	X	139586985	139586985	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:139586985C>A	uc004fbd.1	-	0	241	c.241G>T	c.(241-243)Gag>Tag	p.E81*		NM_005634	NP_005625	P41225	SOX3_HUMAN	Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA.	81					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					AGTTCAGTCTCCAGAAGGCTG	0.697000														11			5		0.248553	0.248931	1	1	0
C14orf37	145407	broad.mit.edu	37	14	58605247	58605247	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:58605247G>A	uc010tro.2	-	2	1142	c.944C>T	c.(943-945)tCc>tTc	p.S315F	C14orf37_uc001xdc.3_Missense_Mutation_p.S277F|C14orf37_uc001xdd.3_Missense_Mutation_p.S277F|C14orf37_uc001xde.3_Missense_Mutation_p.S277F	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	277						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GGTGTACTCGGAAGTTTCGAG	0.557000														86			61		0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332594	100332594	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:100332594C>T	uc021sxl.1	-	1		c.559G>A			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		GAAAGTTCATCACCCTAGAAC	0.617000														139			58		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48460685	48460685	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:48460685G>A	uc003csw.2	-	11	3070	c.2800C>T	c.(2800-2802)Cgg>Tgg	p.R934W	PLXNB1_uc003csu.2_Missense_Mutation_p.R751W|PLXNB1_uc003csx.2_Missense_Mutation_p.R934W|PLXNB1_uc010hjx.1_Non-coding_Transcript|PLXNB1_uc003csy.1_5'Flank	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	934					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)		CCTAGCAGCCGGATTTCCCGC	0.612000														30			30		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124380843	124380843	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:124380843G>A	uc001lgk.1	+	40	5274	c.5168G>A	c.(5167-5169)gGc>gAc	p.G1723D	DMBT1_uc001lgl.1_Missense_Mutation_p.G1713D|DMBT1_uc001lgm.1_Missense_Mutation_p.G1095D|DMBT1_uc021qaf.1_Missense_Mutation_p.G1723D|DMBT1_uc021qag.1_Missense_Mutation_p.G1713D|DMBT1_uc021qah.1_Missense_Mutation_p.G1095D|DMBT1_uc009xzz.1_Missense_Mutation_p.G1723D|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.G426D|DMBT1_uc009yac.1_Missense_Mutation_p.G37D	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1723	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCCCACAAAGGCTGGCTCACC	0.602000														91			70		0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85438352	85438352	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:85438352G>A	uc002blg.3	+	5	661	c.459G>A	c.(457-459)aaG>aaA	p.K153K	SLC28A1_uc010upd.1_Silent_p.K75K|SLC28A1_uc010bnb.3_Silent_p.K153K|SLC28A1_uc010upe.2_Silent_p.K153K|SLC28A1_uc010upf.1_Silent_p.K153K|SLC28A1_uc010upg.1_Silent_p.K153K|SLC28A1_uc002blf.3_Silent_p.K153K	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	153					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)			TCTGGTTTAAGAGGTGAGTGA	0.642000														77			33		0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97631107	97631107	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:97631107G>A	uc003drx.3	+	12	2321	c.2257G>A	c.(2257-2259)Gtt>Att	p.V753I	CRYBG3_uc021xbn.1_Missense_Mutation_p.V753I					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						TTCTTTTAAAGTTCTTCGAGG	0.338000														58			38		0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963128	88963128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:88963128G>A	uc011khi.2	+	3	1370	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	278						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)			CCTTACCAAGGAAAAAGAGGT	0.358000										HNSCC(36;0.09)				33			9		0	0	1	0	0
PYGO2	90780	broad.mit.edu	37	1	154932008	154932008	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:154932008G>A	uc001fft.3	-	2	674	c.468C>T	c.(466-468)ccC>ccT	p.P156P		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	Homo sapiens pygopus homolog 2 (Drosophila) (PYGO2), mRNA.	156	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)			TGTTGCCTGGGGGTGGGTAGC	0.637000														140			85		0	0	1	0	0
CD80	941	broad.mit.edu	37	3	119256207	119256207	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:119256207C>T	uc003ecq.3	-	3	872	c.477G>A	c.(475-477)agG>agA	p.R159R	CD80_uc010hqt.1_Silent_p.R159R|CD80_uc010hqu.1_Intron	NM_005191	NP_005182	P33681	CD80_HUMAN	Homo sapiens CD80 molecule (CD80), mRNA.	159	Ig-like C2-type.				T cell costimulation|interspecies interaction between organisms|intracellular signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of transcription, DNA-dependent	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	AGCAAATTATCCTTCTAATAT	0.363000														61			48		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49424543	49424543	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:49424543G>A	uc001rta.4	-	40	13680	c.13680C>T	c.(13678-13680)tcC>tcT	p.S4560S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4560					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						GGGGCAGCAGGGACAGCTCCT	0.592000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				114			41		0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32724811	32724811	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:32724811C>T	uc003jhv.3	+	1	1222	c.777C>T	c.(775-777)atC>atT	p.I259I	NPR3_uc010iuo.3_Silent_p.I43I|NPR3_uc003jhw.2_Silent_p.I43I|NPR3_uc003jhu.3_Silent_p.I259I	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	259					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TAGTGGTGATCATGTGTGCGA	0.542000														71			24		0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817327	26817327	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:26817327C>T	uc010wan.2	+	2	301	c.234C>T	c.(232-234)atC>atT	p.I78I	SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.2_Intron|SLC13A2_uc002hbh.3_Intron|SLC13A2_uc010wao.2_Intron|SLC13A2_uc002hbi.3_5'UTR	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	66						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	aatGGCAGATCATTCAGAGAC	0.502000														76			21		0	0	1	0	0
TM6SF2	53345	broad.mit.edu	37	19	19381838	19381838	+	Silent	SNP	G	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:19381838G>C	uc002nmd.1	-	1	242	c.192C>G	c.(190-192)ctC>ctG	p.L64L	HAPLN4_uc002nmc.3_5'UTR	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	Homo sapiens transmembrane 6 superfamily member 2 (TM6SF2), mRNA.	64						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			CACCAGCATAGAGTGGGTCAT	0.592000														259			73		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104709396	104709396	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:104709396G>A	uc003ylp.3	+	1	398	c.259G>A	c.(259-261)Ggt>Agt	p.G87S		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 1, mRNA.	118	RabBD.				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)			AGAACAGAAGGGTGATGCGCC	0.423000										HNSCC(12;0.0054)				58			12		0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146065546	146065546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:146065546G>A	uc003ika.4	-	14	1406	c.1268C>T	c.(1267-1269)cCa>cTa	p.P423L		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	487							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTGGACACATGGATTGCTACT	0.378000														165			38		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31374258	31374258	+	Silent	SNP	C	T	T	rs147426364		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:31374258C>T	uc002ebt.3	+	12	1429	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	ITGAX_uc002ebu.1_Silent_p.I454I|ITGAX_uc010vfk.1_Silent_p.I104I	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	454					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.Q453*(1)		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						CCCTTCAGATCGGCTCCTACT	0.672000														156			64		0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189068214	189068214	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:189068214G>A	uc003izm.1	+	5	1210	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	TRIML1_uc003izn.1_Silent_p.K89K	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	365	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGAGCAGAAAGGGGAATCTCC	0.522000														106			16		0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054567	29054567	+	Silent	SNP	G	A	A	rs139179669		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:29054567G>A	uc003nlx.3	-	0	524	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.									p.F153F(4)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CTGAGTTGCCGAAACCAATGA	0.488000														48			22		0	0	1	0	0
ZBTB1	22890	broad.mit.edu	37	14	64988778	64988778	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:64988778C>T	uc021rul.1	+	0	556	c.556C>T	c.(556-558)Cct>Tct	p.P186S	ZBTB1_uc001xhh.4_Missense_Mutation_p.P186S|ZBTB1_uc010aqg.3_Missense_Mutation_p.P186S|ZBTB1_uc001xhi.2_Missense_Mutation_p.P186S|ZBTB1_uc021rum.1_5'Flank	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN	Homo sapiens zinc finger and BTB domain containing 1 (ZBTB1), transcript variant 1, mRNA.	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		AGGTAATTTTCCTGAGCCACT	0.413000														86			31		0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156124465	156124465	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:156124465G>A	uc001fnl.3	+	1	275	c.96G>A	c.(94-96)ggG>ggA	p.G32G	SEMA4A_uc009wrq.3_Silent_p.G32G|SEMA4A_uc001fnm.3_Silent_p.G32G|SEMA4A_uc001fnn.3_Intron|SEMA4A_uc001fno.3_Silent_p.G32G	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	32					axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CGACCGCGGGGGGAGGCGGGC	0.647000														26			15		0	0	1	0	0
C9orf171	389799	broad.mit.edu	37	9	135374845	135374845	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:135374845G>A	uc004cbn.3	+	3	538	c.490G>A	c.(490-492)Gtg>Atg	p.V164M	C9orf171_uc004cbo.3_Missense_Mutation_p.V128M	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	164										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CCGCGGGGCGGTGAAAGCCGG	0.612000														149			58		0	0	1	0	0
KPNA6	23633	broad.mit.edu	37	1	32628862	32628862	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:32628862C>A	uc010ogy.2	+	9	980	c.953C>A	c.(952-954)cCt>cAt	p.P318H	KPNA6_uc001bug.3_Missense_Mutation_p.P313H|KPNA6_uc001buh.3_Missense_Mutation_p.P88H|KPNA6_uc010ogx.2_Missense_Mutation_p.P310H	NM_012316	NP_036448	O60684	IMA7_HUMAN	Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA.	313	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GTGGCTTCTCCTGCCCTGAGA	0.517000														38			8		0.00829132	0.00831916	1	1	0
C10orf2	56652	broad.mit.edu	37	10	102749036	102749036	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:102749036C>T	uc001ksf.2	+	0	1744	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksg.2_Missense_Mutation_p.R357C|C10orf2_uc001ksi.2_Intron|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.	357			R -> P (in PEOA3).		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)		TCGTATTCTTCGTACCGCCCT	0.567000														71			56		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424166	56424166	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:56424166G>A	uc010ygg.2	-	4	1042	c.1017C>T	c.(1015-1017)ctC>ctT	p.L339L		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	339	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)		TGGTCACTGGGAGCTCCTGGT	0.453000														60			37		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40980000	40980000	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:40980000G>A	uc003jmh.3	+	16	2453	c.2339G>A	c.(2338-2340)gGa>gAa	p.G780E	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	780	Complement control factor I module 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CCACTGTGGGGAAAATGTGAT	0.453000														23			10		0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90185521	90185521	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:90185521G>A	uc002bof.2	-	10	2384	c.2307C>T	c.(2305-2307)ctC>ctT	p.L769L	KIF7_uc010upw.1_Silent_p.L255L	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	769					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCTTGCCCTCGAGCTCCCGCA	0.692000														33			12		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56373427	56373427	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:56373427G>A	uc002qmd.4	+	4	2510	c.2088G>A	c.(2086-2088)ttG>ttA	p.L696L	NLRP4_uc002qmf.3_Silent_p.L621L|NLRP4_uc010etf.3_Silent_p.L527L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	696							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)		AGCCAGACTTGAAATACCTGA	0.443000														47			41		0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41774066	41774066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:41774066G>A	uc003ori.3	-	3	878	c.656C>T	c.(655-657)gCg>gTg	p.A219V		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.	219					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.D218N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			agccgggcccgcgtcgcgggg	0.766000														24			9		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	344366	344366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:344366G>A	uc001qic.2	-	6	811	c.721C>T	c.(721-723)Cct>Tct	p.P241S	SLC6A13_uc009zdj.2_Missense_Mutation_p.P241S|SLC6A13_uc010sdl.2_Missense_Mutation_p.P149S|SLC6A13_uc010sdm.1_Missense_Mutation_p.P122S	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	241					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)			ATGAGGTAAGGAAATGTGGCC	0.562000														53			15		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542471	179542471	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	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														70			30		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101430900	101430900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:101430900C>T	uc010svm.1	+	9	1441	c.869C>T	c.(868-870)tCc>tTc	p.S290F	ANO4_uc001thw.2_Missense_Mutation_p.S255F|ANO4_uc001thx.2_Missense_Mutation_p.S290F	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	290						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ACCAATGGCTCCTATGAAGCT	0.348000										HNSCC(74;0.22)				134			41		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12656353	12656353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:12656353C>T	uc002gno.2	+	9	2047	c.1748C>T	c.(1747-1749)tCc>tTc	p.S583F	MYOCD_uc002gnn.2_Missense_Mutation_p.S583F|MYOCD_uc002gnp.1_Missense_Mutation_p.S487F|MYOCD_uc002gnq.2_Missense_Mutation_p.S302F	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	583					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCTTTTGCATCCCAAGTACCT	0.517000														54			38		0	0	1	0	0
STX10	8677	broad.mit.edu	37	19	13255265	13255265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:13255265C>T	uc021upq.1	-	7	709	c.709G>A	c.(709-711)Ggg>Agg	p.G237R	STX10_uc002mwn.3_3'UTR|STX10_uc002mwo.3_3'UTR|STX10_uc010xna.2_Missense_Mutation_p.G78R	NM_003765	NP_003756	O60499	STX10_HUMAN	Homo sapiens syntaxin 10 (STX10), mRNA.	237					Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			AGAAGCACCCCCACTAGCACG	0.617000														26			12		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885827	88885827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:88885827G>A	uc003ydz.3	-	0	470	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	125								p.R125W(4)		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						TTCACCTTCCGATTAGGGACG	0.557000														101			28		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117588	117588	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrGL000205.1:117588C>T	uc002kgk.4	+	0		c.966C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CAGCCGACTCCACCACCGGCC	0.617000														29			7		0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	108970443	108970443	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:108970443G>A	uc003yms.3	-	4	1139	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	RSPO2_uc003ymq.3_Missense_Mutation_p.R94C|RSPO2_uc003ymr.3_Missense_Mutation_p.R97C	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	Homo sapiens R-spondin 2 (RSPO2), mRNA.	161	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CCACATGTGCGATTATTTCTG	0.383000														55			27		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921299	24921299	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:24921299G>A	uc001ywo.3	+	0	759	c.285G>A	c.(283-285)agG>agA	p.R95R		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	95					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)		TGGCCATCAGGAAGACACCCA	0.667000														51			17		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067811	9067811	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9067811G>A	uc002mkp.3	-	2	19839	c.19635C>T	c.(19633-19635)ccC>ccT	p.P6545P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6547	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						GGCCAGAGGTGGGGAGTGAAG	0.498000														27			11		0	0	1	0	0
IGBP1P1	280655	broad.mit.edu	37	14	35409449	35409449	+	RNA	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:35409449G>A	uc010tpo.1	+	0		c.322G>A								Homo sapiens immunoglobulin (CD79A) binding protein 1 pseudogene 1 (IGBP1P1), non-coding RNA.																		GGAGGAAGAGGATGATGAACA	0.493000														128			36		0	0	1	0	0
OTOP2	92736	broad.mit.edu	37	17	72926630	72926630	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:72926630C>T	uc010wrp.2	+	5	992	c.900C>T	c.(898-900)ttC>ttT	p.F300F		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	300						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TGCTGCTCTTCGTGGTGGGGC	0.617000														115			53		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30936285	30936285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:30936285G>A	uc002nsu.1	+	1	1954	c.1816G>A	c.(1816-1818)Gat>Aat	p.D606N	ZNF536_uc010edd.1_Missense_Mutation_p.D606N	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.R605R(2)		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)					AAGCAGTCGGGATTTTTTGTC	0.552000														105			67		0	0	1	0	0
TCHP	84260	broad.mit.edu	37	12	110352349	110352349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:110352349G>A	uc001tpn.3	+	10	1390	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	TCHP_uc001tpo.1_Non-coding_Transcript|TCHP_uc001tpp.3_Missense_Mutation_p.E413K	NM_001143852	NP_115676	Q9BT92	TCHP_HUMAN	Homo sapiens trichoplein, keratin filament binding (TCHP), transcript variant 2, mRNA.	413	Glu-rich.|Interaction with keratin proteins.|Trichohyalin/plectin homology domain.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						TCGAAATCTTGAGGAGGTGAG	0.522000														65			43		0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17601173	17601173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:17601173C>T	uc001bai.3	+	10	1239	c.1199C>T	c.(1198-1200)tCt>tTt	p.S400F		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	400					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)	CGCGACAGGTCTGTGAGTGGC	0.607000											OREG0013148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		72			34		0	0	1	0	0
SAG	6295	broad.mit.edu	37	2	234217864	234217864	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:234217864C>T	uc002vuh.2	+	1	417	c.29C>T	c.(28-30)tCc>tTc	p.S10F	SAG_uc002vug.2_Intron|SAG_uc010zmq.1_5'UTR	NM_000541	NP_000532	P10523	ARRS_HUMAN	Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA.	10					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		ACCAGCAAGTCCGAACCGAAC	0.463000														33			15		0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50886692	50886692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:50886692G>A	uc001zyt.4	-	23	3691	c.3409C>T	c.(3409-3411)Cat>Tat	p.H1137Y	TRPM7_uc010bew.2_Missense_Mutation_p.H1137Y	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	1137					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GAAACTATATGGCTAAGAATG	0.348000														132			50		0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133661578	133661578	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:133661578G>A	uc003eqa.4	-	10	1770	c.1496C>T	c.(1495-1497)tCc>tTc	p.S499F	SLCO2A1_uc011blv.2_Missense_Mutation_p.S318F	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	499					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						TGCTGAAGCGGATCCCCCGGT	0.522000														162			47		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34066481	34066481	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:34066481G>A	uc001bxm.1	-	43	7017	c.6840C>T	c.(6838-6840)ttC>ttT	p.F2280F	CSMD2_uc001bxn.1_Silent_p.F2282F|CSMD2_uc001bxo.1_Silent_p.F1153F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2282	CUB 13.					integral to membrane|plasma membrane	protein binding	p.F2282F(1)		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)				AAGCTATGGCGAAGATCCCCC	0.577000														88			34		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108487311	108487311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:108487311G>A	uc010ywk.2	+	19	2933	c.2851G>A	c.(2851-2853)Gat>Aat	p.D951N	RGPD4_uc002tdu.3_Missense_Mutation_p.D138N|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	951					intracellular transport		binding	p.Q950Q(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CCAGGCTCAGGATATTAGTGG	0.408000														121			43		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7531787	7531787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:7531787C>T	uc010sge.2	-	8	2214	c.2188G>A	c.(2188-2190)Gga>Aga	p.G730R	CD163L1_uc001qsy.3_Missense_Mutation_p.G720R	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	720	SRCR 7.					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						ATGTTCATTCCCCAGCCATTA	0.493000														93			28		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262102	158262102	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:158262102C>T	uc001fru.3	+	2	849	c.557C>T	c.(556-558)cCc>cTc	p.P186L	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	186					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.P186H(2)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGCACTTGCCCCCGATTTCTC	0.453000														433			103		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227875143	227875143	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:227875143G>A	uc021vxr.1	-	44	4509	c.4408C>T	c.(4408-4410)Ctc>Ttc	p.L1470F	COL4A4_uc021vxs.1_Missense_Mutation_p.L1467F	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1470	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)		TGACTGTGGAGAACCAGGAGG	0.577000														64			36		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21995392	21995392	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:21995392G>A	uc001rfh.3	-	26	3349	c.3329C>T	c.(3328-3330)aCc>aTc	p.T1110I	ABCC9_uc001rfi.1_Missense_Mutation_p.T1110I	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1110	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)	AGATTCCAAGGTTGGAGGGAT	0.418000														82			19		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141734488	141734488	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:141734488C>T	uc003vwy.3	+	15	1860	c.1806C>T	c.(1804-1806)ttC>ttT	p.F602F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	602	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)	AGACTGTGTTCCCTAATAAGA	0.488000														20			10		0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	160958207	160958207	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:160958207C>T	uc002ubg.3	-	0		c.52G>A						P18564	ITB6_HUMAN	Homo sapiens cDNA: FLJ23083 fis, clone LNG06541, highly similar to IR2005735 Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 2005735.						cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ATTAACATTTCATATCAGTGA	0.303000														27			13		0	0	1	0	0
ZNF430	80264	broad.mit.edu	37	19	21240276	21240276	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:21240276C>A	uc002npj.3	+	4	1343	c.1162C>A	c.(1162-1164)Ctt>Att	p.L388I	ZNF430_uc002npk.3_Missense_Mutation_p.L387I	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	Homo sapiens zinc finger protein 430 (ZNF430), transcript variant 1, mRNA.	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						ATTCTCATACCTTACTAAACA	0.353000														45			43		4.0492e-12	4.08524e-12	1	1	0
TTN	7273	broad.mit.edu	37	2	179416538	179416538	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179416538C>T	uc021vsy.1	-	283	83610	c.83385G>A	c.(83383-83385)aaG>aaA	p.K27795K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.K21490K|TTN_uc021vta.1_Silent_p.K21423K|TTN_uc021vtb.1_Silent_p.K21298K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28722							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)			TTCTTTCTTTCTTTTCAACAT	0.398000														120			28		0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76067190	76067190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:76067190G>A	uc002jud.2	+	6	3403	c.2803G>A	c.(2803-2805)Gat>Aat	p.D935N	TNRC6C_uc002juf.2_Missense_Mutation_p.D932N|TNRC6C_uc002jue.2_Missense_Mutation_p.D932N	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	935	Sufficient for interaction with argonaute family proteins.|UBA.				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)			TGGCAAGCAGGATGAGGCCTG	0.507000														16			7		0	0	1	0	0
RBBP5	5929	broad.mit.edu	37	1	205068906	205068906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:205068906G>A	uc010prd.2	-	7	1327	c.1046C>T	c.(1045-1047)tCc>tTc	p.S349F	RBBP5_uc010pre.2_Missense_Mutation_p.S187F|RBBP5_uc001hbu.2_Missense_Mutation_p.S314F|RBBP5_uc001hbv.2_Missense_Mutation_p.S314F	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	Homo sapiens retinoblastoma binding protein 5 (RBBP5), transcript variant 1, mRNA.	314					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CACTCCACTGGAAATGGATGC	0.348000														157			61		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20345023	20345023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:20345023G>A	uc001vwh.1	+	0	597	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	199					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)		GCCTCTTTATGATCTCAACAA	0.403000														372			91		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144886268	144886268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:144886268G>A	uc021ouh.1	-	22	3268	c.2966C>T	c.(2965-2967)tCc>tTc	p.S989F	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.S989F|PDE4DIP_uc001elx.4_Missense_Mutation_p.S1055F|PDE4DIP_uc001elv.4_5'UTR	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	989					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			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)		AGAAGGAGGGGAAAAAGATGG	0.473000			T	PDGFRB	MPD									307			120		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47037254	47037254	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:47037254G>A	uc003cqp.3	+	13	2128	c.1949G>A	c.(1948-1950)gGg>gAg	p.G650E	NBEAL2_uc010hjm.2_Missense_Mutation_p.G211E	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	650							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ACGGCGGCCGGGACCCTGGTG	0.592000														50			40		0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119044590	119044590	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:119044590C>T	uc001pvu.3	+	4	847	c.632C>T	c.(631-633)tCc>tTc	p.S211F	NLRX1_uc010rzc.1_Missense_Mutation_p.S33F|NLRX1_uc001pvv.3_Missense_Mutation_p.S211F|NLRX1_uc001pvw.3_Missense_Mutation_p.S211F|NLRX1_uc001pvx.3_Missense_Mutation_p.S211F	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	211	NACHT.|Required for interaction with MAVS.				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)		GCCCCAGCCTCCCTGTGCCAA	0.627000														38			44		0	0	1	0	0
SLC27A3	11000	broad.mit.edu	37	1	153750724	153750725	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:153750724_153750725GG>AA	uc001fcz.3	+	4	1455_1456	c.1390_1391GG>AA	c.(1390-1392)ggg>AAg	p.G464K	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	464					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCGGCGCTTCGGGCCCCTGCAG	0.639000														168			54		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43778085	43778085	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:43778085C>T	uc001ciu.3	+	11	1917	c.1740C>T	c.(1738-1740)ttC>ttT	p.F580F	TIE1_uc010okd.2_Silent_p.F580F|TIE1_uc010oke.2_Silent_p.F535F|TIE1_uc009vwq.3_Silent_p.F536F|TIE1_uc010okf.1_Silent_p.F225F|TIE1_uc010okg.2_Silent_p.F225F	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	580	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCGACGGTTTCCTGCTGCGCC	0.701000														79			34		0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35313969	35313969	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:35313969C>T	uc003zwr.3	+	9	1442	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	UNC13B_uc010mkl.1_Nonsense_Mutation_p.R384*|UNC13B_uc003zwq.3_Nonsense_Mutation_p.R384*	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	384					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TACCAAGGTTCGACTCCAGCT	0.438000														66			24		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122001074	122001074	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:122001074G>A	uc003eew.4	+	5	2191	c.1753G>A	c.(1753-1755)Gat>Aat	p.D585N	CASR_uc003eev.4_Missense_Mutation_p.D575N	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	575					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)	GGAGTATAGTGATGAGACAGG	0.602000														139			89		0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843021	4843021	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:4843021C>T	uc010qyn.2	+	0	406	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	136					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)		GGCCTTTGATCGTTTTGTGGC	0.463000														122			58		0	0	1	0	0
PIWIL1	9271	broad.mit.edu	37	12	130846112	130846112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:130846112G>A	uc001uik.3	+	15	2207	c.1936G>A	c.(1936-1938)Gga>Aga	p.G646R	PIWIL1_uc001uij.2_Missense_Mutation_p.G646R	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	646	Piwi.|RNA-binding (By similarity).				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)		GTCAATCGCAGGATTTGTTGC	0.488000														99			30		0	0	1	0	0
FBXO21	23014	broad.mit.edu	37	12	117612501	117612502	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:117612501_117612502GG>AA	uc001twk.3	-	4	732_733	c.693_694CC>TT	c.(691-696)accctt>acTTtt	p.L232F	FBXO21_uc001twj.3_Missense_Mutation_p.L232F|FBXO21_uc009zwq.3_Missense_Mutation_p.L232F	NM_033624	NP_296373	O94952	FBX21_HUMAN	Homo sapiens F-box protein 21 (FBXO21), transcript variant 1, mRNA.	232					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		ATGCCCCGAAGGGTTTTGCAAA	0.480000														61			17		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82538228	82538228	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:82538228C>G	uc003uhx.2	-	7	13691	c.13402G>C	c.(13402-13404)Gtc>Ctc	p.V4468L	PCLO_uc003uhv.2_Missense_Mutation_p.V4468L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4399	PDZ.				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						CTAGAGTGGACCAATCTTTCC	0.413000														27			12		0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1742580	1742580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:1742580C>T	uc003gdo.3	+	12	2245	c.2090C>T	c.(2089-2091)tCc>tTc	p.S697F	TACC3_uc003gdp.3_Missense_Mutation_p.S337F	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	697						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AAGGAACTTTCCAAAGCTGAA	0.453000														122			33		0	0	1	0	0
SNUPN	10073	broad.mit.edu	37	15	75890763	75890763	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:75890763G>A	uc002ban.3	-	8	1109	c.1019C>T	c.(1018-1020)tCt>tTt	p.S340F	SNUPN_uc002bap.3_Missense_Mutation_p.S382F|SNUPN_uc002baq.3_Missense_Mutation_p.S340F|SNUPN_uc002bar.3_Missense_Mutation_p.S340F|SNUPN_uc002bas.3_Missense_Mutation_p.S340F	NM_005701	NP_005692	O95149	SPN1_HUMAN	Homo sapiens snurportin 1 (SNUPN), transcript variant 1, mRNA.	340					ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	RNA cap binding|protein transporter activity			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						CTTGGGAGTAGACAGGTGCTC	0.502000														113			43		0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17918894	17918894	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:17918894C>T	uc002nhl.1	+	1	425	c.278C>T	c.(277-279)cCc>cTc	p.P93L	B3GNT3_uc010ebd.1_Missense_Mutation_p.P93L|B3GNT3_uc010ebe.1_Missense_Mutation_p.P93L	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	93					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						CGCCACTTTCCCCTGCTGCAG	0.632000														60			44		0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61323677	61323677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:61323677C>T	uc001nrv.3	-	1	86	c.34G>A	c.(34-36)Gcg>Acg	p.A12T	SYT7_uc009ynr.3_Missense_Mutation_p.A12T|SYT7_uc001nrx.1_Non-coding_Transcript	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	12						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.A12P(2)		kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGCGAGGGCGCCCCTGGGGAG	0.652000														29			17		0	0	1	0	0
GPSM1	26086	broad.mit.edu	37	9	139252507	139252507	+	Silent	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:139252507A>G	uc004chd.2	+	13	2083	c.1863A>G	c.(1861-1863)gtA>gtG	p.V621V	GPSM1_uc011mdu.1_Silent_p.V112V|GPSM1_uc022bpn.1_Silent_p.V112V|GPSM1_uc004che.2_Silent_p.V112V	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN	Homo sapiens G-protein signaling modulator 1 (GPSM1), transcript variant 1, mRNA.	621					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)		CACCTGACGTACTGCCCCGGG	0.687000														82			28		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33568445	33568445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:33568445C>T	uc002xbi.2	+	7	850	c.533C>T	c.(532-534)tCc>tTc	p.S178F	MYH7B_uc010gfa.1_Missense_Mutation_p.S136F	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	136	Myosin head-like.					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)			TATACGGCCTCCGTAGTGGCT	0.537000														258			83		0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15052452	15052452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:15052452C>T	uc010xoc.2	+	0	152	c.152C>T	c.(151-153)tCa>tTa	p.S51L		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					ACCATCAGTTCAGACTCCCAC	0.517000														96			84		0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6008029	6008029	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:6008029C>T	uc001mcd.2	-	0	187	c.132G>A	c.(130-132)tgG>tgA	p.W44*		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	44					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)		GCAGTGCAATCCAGTGCTGGC	0.488000														36			18		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57233561	57233561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:57233561G>A	uc001cym.4	-	4	1410	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	C1orf168_uc009vzu.1_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	335								p.S335L(2)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCTCAGATATGAAATTGTTGC	0.353000														86			27		0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74524939	74524939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:74524939C>T	uc002fcx.3	-	7	1459	c.1409G>A	c.(1408-1410)cGa>cAa	p.R470Q	GLG1_uc002fcw.4_Missense_Mutation_p.R459Q|GLG1_uc002fcy.4_Missense_Mutation_p.R470Q|GLG1_uc002fcz.4_Intron	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	470						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CTTCTCCCCTCGAACTACTTT	0.493000														132			23		0	0	1	0	0
ARL13A	392509	broad.mit.edu	37	X	100240691	100240691	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:100240691G>A	uc004ego.3	+	3	282	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	ARL13A_uc011mrf.2_Missense_Mutation_p.E56K|ARL13A_uc010nng.3_Missense_Mutation_p.E56K	NM_001012990	NP_001013008	Q5H913	AR13A_HUMAN	Homo sapiens ADP-ribosylation factor-like 13A (ARL13A), transcript variant 2, mRNA.	56							GTP binding			endometrium(1)|ovary(1)	2						CATGAAATCGGAACTGACTAC	0.448000														48			29		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96051806	96051806	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:96051806G>A	uc004ati.1	+	19	4881	c.4881G>A	c.(4879-4881)ggG>ggA	p.G1627G	WNK2_uc011lud.1_Silent_p.G1590G|WNK2_uc004atj.3_Silent_p.G1590G|WNK2_uc004atk.3_Silent_p.G1227G|WNK2_uc004atl.1_Silent_p.G185G	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1627					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCCTGAGAGGGGACCAGCCCC	0.692000														32			15		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2813884	2813884	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:2813884G>A	uc002crk.3	+	10	3904	c.3355G>A	c.(3355-3357)Ggt>Agt	p.G1119S	SRRM2_uc002crj.1_Missense_Mutation_p.G1023S|SRRM2_uc002crl.1_Missense_Mutation_p.G1119S|SRRM2_uc010bsu.1_Missense_Mutation_p.G1023S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1119	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						ACAAGATAGAGGTGAGTTCTC	0.478000														137			73		0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119936706	119936706	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:119936706G>A	uc003yon.4	-	4	1436	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F		NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	371					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)			AGCTGTGAAGGAACCTGATGG	0.393000														242			64		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164777010	164777010	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:164777010G>A	uc003fei.3	-	10	1287	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	408	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			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)	CAAATTGAGGGAGTCCGTTAA	0.338000										HNSCC(35;0.089)				24			21		0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117129925	117129925	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:117129925G>A	uc004biq.3	-	4	1761	c.1626C>T	c.(1624-1626)ccC>ccT	p.P542P	AKNA_uc004bio.3_Silent_p.P2P|AKNA_uc004bip.3_Silent_p.P461P|AKNA_uc004bir.3_Silent_p.P542P|AKNA_uc004bis.3_Silent_p.P542P|AKNA_uc010mve.2_Silent_p.P423P|AKNA_uc004biu.1_Silent_p.P283P|AKNA_uc004biv.1_Silent_p.P542P	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						ACCCCAGGGTGGGCATGCTGG	0.612000														83			27		0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182765545	182765545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:182765545C>T	uc002uoi.3	+	6	948	c.626C>T	c.(625-627)tCc>tTc	p.S209F	SSFA2_uc002uoh.3_Missense_Mutation_p.S209F|SSFA2_uc002uoj.3_Missense_Mutation_p.S209F|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.S56F|SSFA2_uc002uol.3_Missense_Mutation_p.S56F	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	209						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			AATTCATCATCCTTTGCCAAA	0.323000														39			17		0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45021274	45021274	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:45021274G>A	uc010ejn.1	-	5	1058	c.1042C>T	c.(1042-1044)Caa>Taa	p.Q348*	CEACAM20_uc010ejo.1_Nonsense_Mutation_p.Q348*|CEACAM20_uc010ejp.1_Intron|CEACAM20_uc010ejq.1_Intron	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	348	Ig-like C2-type 4.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				ATGTGCACTTGGTCAGGACCA	0.552000														67			44		0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180359974	180359974	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:180359974C>T	uc010hxe.3	-	12	1796	c.1681G>A	c.(1681-1683)Gac>Aac	p.D561N	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	561					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)			AAAAGATTGTCCTCTATCATC	0.284000														30			8		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10401153	10401153	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:10401153C>T	uc002gmo.3	-	30	4357	c.4263G>A	c.(4261-4263)acG>acA	p.T1421T	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1421						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						GCCTCTGCTTCGTCTTCTCAA	0.473000														61			46		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40066861	40066861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:40066861C>T	uc003ayc.3	+	25	4441	c.4441C>T	c.(4441-4443)Cac>Tac	p.H1481Y	CACNA1I_uc003ayd.3_Missense_Mutation_p.H1446Y|CACNA1I_uc003aye.3_Missense_Mutation_p.H1396Y|CACNA1I_uc003ayf.3_Missense_Mutation_p.H1361Y	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1481					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCTGCTCATCCACTCCATGTG	0.587000														273			66		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6185624	6185624	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:6185624G>A	uc001amb.2	-	27	4331	c.4220C>T	c.(4219-4221)cCc>cTc	p.P1407L	CHD5_uc001alz.2_Missense_Mutation_p.P264L|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.	1407					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)		CGGGGGCAGGGGCTTGTCCCT	0.637000														10			11		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540518	28540518	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:28540518G>A	uc003nlo.3	-	3	3766	c.3148C>T	c.(3148-3150)Cat>Tat	p.H1050Y		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1050					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						agttgcttatgatcagcttcc	0.303000														70			18		0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29881755	29881755	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:29881755G>A	uc003afo.3	+	2	1198	c.1127G>A	c.(1126-1128)tGg>tAg	p.W376*		NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	376	Coil 2B.|Rod.				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						AACACCAAGTGGGAGATGGCC	0.572000														71			16		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386570	56386570	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:56386570G>A	uc002ivx.4	-	21	4934	c.4063C>T	c.(4063-4065)Cga>Tga	p.R1355*	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Nonsense_Mutation_p.R1295*|BZRAP1_uc010wnt.2_Nonsense_Mutation_p.R1355*	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1355						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAGGGTCTCGGGAAGAACAG	0.612000														107			41		0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106861297	106861298	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:106861297_106861298GG>AA	uc011cfd.2	+	6	874_875	c.661_662GG>AA	c.(661-663)ggg>AAg	p.G221K	NPNT_uc011cfc.2_Missense_Mutation_p.G208K|NPNT_uc011cfe.2_Missense_Mutation_p.G221K|NPNT_uc003hya.3_Missense_Mutation_p.G191K|NPNT_uc011cff.2_Missense_Mutation_p.G191K	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	191	EGF-like 5; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		CAACACTTTTGGGAGCTACATC	0.401000														64			21		0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248201816	248201816	+	Missense_Mutation	SNP	G	A	A	rs142994715		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:248201816G>A	uc001idw.3	+	0	343	c.247G>A	c.(247-249)Gat>Aat	p.D83N	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D83N(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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;0.0278)			GAtggtttatgattttctgta	0.418000														285			95		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108682428	108682428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:108682428C>T	uc003dxl.3	-	26	2719	c.2632G>A	c.(2632-2634)Gaa>Aaa	p.E878K	MORC1_uc011bhn.2_Missense_Mutation_p.E857K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	878					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.E878D(1)		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						ATTTTTTTTTCATATTGGACC	0.279000														70			13		0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51705277	51705277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:51705277C>T	uc010lxy.1	+	19	1813	c.1442C>T	c.(1441-1443)tCc>tTc	p.S481F	SNTG1_uc003xqs.1_Missense_Mutation_p.S481F|SNTG1_uc010lxz.1_Missense_Mutation_p.S444F|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	481					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)				TGCATTCATTCCTTCTTTGCT	0.388000														38			8		0	0	1	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31692313	31692313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:31692313C>T	uc002ynw.3	-	0	295	c.41G>A	c.(40-42)gGa>gAa	p.G14E		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	Homo sapiens keratin associated protein 26-1 (KRTAP26-1), mRNA.	14						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						TCTGAGAGATCCTGAGTTGGA	0.517000														24			6		0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160168515	160168515	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:160168515G>A	uc010pja.2	+	7	1134	c.877G>A	c.(877-879)Gat>Aat	p.D293N		NM_001231	NP_001222	P31415	CASQ1_HUMAN	Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA.	293						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAGGAAGCTGATCCTGGTGA	0.537000														137			70		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51196675	51196675	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:51196675G>A	uc011bds.2	+	11	852	c.829_splice	c.e11-1	p.D277_splice		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	277						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)		TTTCTCTTAGGATCTGAGCAG	0.343000														112			36		0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97852004	97852004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:97852004C>T	uc011bgt.2	+	0	463	c.463C>T	c.(463-465)Cat>Tat	p.H155Y		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	155					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						TGGTATTCTTCATGCTTTAAT	0.373000														46			10		0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81331939	81331939	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:81331939C>T	uc003uhl.3	-	17	2310	c.2145G>A	c.(2143-2145)tgG>tgA	p.W715*	HGF_uc003uhm.3_Nonsense_Mutation_p.W710*	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	715	Peptidase S1.				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						TTTTGTGTATCCATTTTGCAT	0.373000														32			12		0	0	1	0	0
ARMCX5	64860	broad.mit.edu	37	X	101857410	101857410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:101857410C>T	uc022cbb.1	+	0	341	c.341C>T	c.(340-342)tCt>tTt	p.S114F	ARMCX5_uc004ejg.3_Missense_Mutation_p.S114F|ARMCX5_uc022caw.1_Missense_Mutation_p.S114F|ARMCX5_uc022cax.1_Missense_Mutation_p.S114F|ARMCX5-GPRASP2_uc022cay.1_Intron|ARMCX5_uc022caz.1_Missense_Mutation_p.S114F|ARMCX5_uc022cba.1_Missense_Mutation_p.S114F|ARMCX5_uc004ejh.3_Missense_Mutation_p.S114F	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	Homo sapiens armadillo repeat containing, X-linked 5 (ARMCX5), transcript variant 2, mRNA.	114							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						ATGCCTATGTCTAGGGTCAGT	0.448000														92			70		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100169344	100169344	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:100169344G>A	uc001tge.2	-	6	1360	c.943C>T	c.(943-945)Cct>Tct	p.P315S	ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Missense_Mutation_p.P281S	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	315						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTTTGGGAAGGAGACTCAACA	0.393000														52			14		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553172	140553172	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140553172C>T	uc003lit.3	+	0	930	c.756C>T	c.(754-756)ccC>ccT	p.P252P		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	252	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGGTGCCCGAAAATAGCC	0.522000														82			53		0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99377689	99377689	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:99377689C>T	uc003urv.2	-	1	198	c.91G>A	c.(91-93)Gga>Aga	p.G31R	CYP3A4_uc003urw.2_Missense_Mutation_p.G31R|CYP3A4_uc011kiz.2_Missense_Mutation_p.G31R	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	31					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|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|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTAAAAAGTCCATGTGAATGG	0.398000														47			14		0	0	1	0	0
C14orf177	283598	broad.mit.edu	37	14	99183489	99183489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:99183489G>A	uc001yfz.2	+	3	675	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K		NM_182560	NP_872366	Q52M58	CN177_HUMAN	Homo sapiens chromosome 14 open reading frame 177 (C14orf177), mRNA.	86										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				GAGACATGAAGAAACTTCTCC	0.448000														78			36		0	0	1	0	0
IVD	3712	broad.mit.edu	37	15	40710429	40710429	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:40710429C>T	uc001zls.3	+	11	1582	c.1248C>T	c.(1246-1248)gtC>gtT	p.V416V	IVD_uc001zlq.2_Silent_p.V386V|IVD_uc001zlr.2_Silent_p.V119V	NM_002225	NP_002216	P26440	IVD_HUMAN	Homo sapiens isovaleryl-CoA dehydrogenase (IVD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	413					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		GGCGGCTGGTCATCGGCAGAG	0.562000														138			45		0	0	1	0	0
PARP10	84875	broad.mit.edu	37	8	145059155	145059155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:145059155G>A	uc003zal.4	-	4	1123	c.1015C>T	c.(1015-1017)Ccc>Tcc	p.P339S	PARP10_uc003zak.4_Missense_Mutation_p.P45S|PARP10_uc011lku.2_Missense_Mutation_p.P351S|PARP10_uc011lkv.2_Non-coding_Transcript|PARP10_uc003zam.2_Missense_Mutation_p.P339S|PARP10_uc010mfn.1_Missense_Mutation_p.P254S|PARP10_uc010mfo.1_3'UTR	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 10 (PARP10), mRNA.	339						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)			GACCCCATGGGACCTGTCCTC	0.612000														156			46		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067599	9067599	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9067599G>A	uc002mkp.3	-	2	20051	c.19847C>T	c.(19846-19848)cCa>cTa	p.P6616L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6618	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P6616A(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						GACTTTGGGTGGTTCTGAGTA	0.453000														142			66		0	0	1	0	0
AP5M1	55745	broad.mit.edu	37	14	57749720	57749720	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:57749720T>C	uc001xcv.3	+	4	1584	c.1157T>C	c.(1156-1158)tTa>tCa	p.L386S	AP5M1_uc010tri.2_Missense_Mutation_p.L140S|AP5M1_uc010trj.2_Missense_Mutation_p.L283S	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN	Homo sapiens MU-2/AP1M2 domain containing, death-inducing (MUDENG), transcript variant 1, mRNA.	386	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											GAGAAAAGCTTATTGATCTGG	0.264000														124			44		0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48510731	48510731	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:48510731T>A	uc010rhx.2	+	0	387	c.387T>A	c.(385-387)caT>caA	p.H129Q		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						AGCCCTTGCATTATTTGGTTA	0.463000														41			9		0	0	1	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43659373	43659373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:43659373G>A	uc001jan.3	+	4	1375	c.1040G>A	c.(1039-1041)cGa>cAa	p.R347Q		NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.	347					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.R347*(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AATCGTGGACGAGGACTAAAT	0.413000														34			29		0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973871	29973871	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:29973871C>T	uc004dby.2	+	10	2533	c.2025C>T	c.(2023-2025)gcC>gcT	p.A675A		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	675					innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CAGATGAGGCCCACACAAACA	0.532000														26			20		0	0	1	0	0
THAP4	51078	broad.mit.edu	37	2	242542425	242542426	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:242542425_242542426GG>AA	uc002wbt.3	-	3	1762_1763	c.1469_1470CC>TT	c.(1468-1470)ccc>cTT	p.P490L	THAP4_uc002wbs.3_Missense_Mutation_p.P78L	NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.	490							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TGTTGGTGTCGGGCTTGAGGCG	0.624000														144			46		0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32487577	32487577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:32487577C>T	uc001rku.3	+	5	2309	c.2228C>T	c.(2227-2229)tCc>tTc	p.S743F	BICD1_uc001rkv.3_Missense_Mutation_p.S743F|BICD1_uc010skd.2_Non-coding_Transcript|BICD1_uc001rkw.1_Missense_Mutation_p.S25F	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	743	Interacts with RAB6A.				RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ACCTTCTCATCCCTGAGAGCA	0.408000														134			49		0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56085890	56085890	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:56085890G>A	uc010rjf.2	+	0	108	c.108G>A	c.(106-108)gtG>gtA	p.V36V		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	36					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)					TGATCTATGTGATCTCAGTGA	0.433000														67			44		0	0	1	0	0
CNPY2	10330	broad.mit.edu	37	12	56708936	56708936	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:56708936C>T	uc001sku.2	-	1	615	c.66G>A	c.(64-66)agG>agA	p.R22R	CNPY2_uc001skv.3_Silent_p.R22R	NM_014255	NP_055070	Q9Y2B0	CNPY2_HUMAN	Homo sapiens canopy 2 homolog (zebrafish) (CNPY2), transcript variant 1, mRNA.	22						endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						GATCCTGGCTCCTCCGAGCCC	0.597000														111			44		0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67631707	67631707	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:67631707G>A	uc002sdz.1	+	4	2032	c.1893G>A	c.(1891-1893)aaG>aaA	p.K631K		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	631						cytoplasm|nucleus		p.S630T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						AGGACAGTAAGACATCAGAAA	0.363000														155			52		0	0	1	0	0
SLC35F4	341880	broad.mit.edu	37	14	58055945	58055945	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:58055945C>T	uc021rtp.1	-	2	622	c.573G>A	c.(571-573)atG>atA	p.M191I	SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_Missense_Mutation_p.M69I	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGAATTTTTTCATTGGAGATT	0.333000														54			35		0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693132	187693132	+	Missense_Mutation	SNP	G	A	A	rs138793510		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:187693132G>A	uc002upu.1	-	8	1521	c.1481C>T	c.(1480-1482)cCc>cTc	p.P494L		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	494					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)			AAGATACCTGGGAAAATGTTG	0.318000														31			9		0	0	1	0	0
SLC18A1	6570	broad.mit.edu	37	8	20028990	20028990	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:20028990C>T	uc011kyq.2	-	7	1211	c.740G>A	c.(739-741)gGa>gAa	p.G247E	SLC18A1_uc003wzm.3_Missense_Mutation_p.G247E|SLC18A1_uc011kyr.2_Missense_Mutation_p.G247E|SLC18A1_uc003wzn.3_Missense_Mutation_p.G247E|SLC18A1_uc010ltf.3_Non-coding_Transcript	NM_001135691	NP_003044	P54219	VMAT1_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.	247					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		CATTACACTTCCAAAGGGAGC	0.512000														104			33		0	0	1	0	0
CABP5	56344	broad.mit.edu	37	19	48547171	48547171	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:48547171G>A	uc002phu.2	-	0	141	c.9C>T	c.(7-9)ttC>ttT	p.F3F		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	Homo sapiens calcium binding protein 5 (CABP5), mRNA.	3					signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		GGCCCATGGGGAACTGCATGG	0.642000														26			21		0	0	1	0	0
TMEM127	55654	broad.mit.edu	37	2	96920668	96920668	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:96920668G>A	uc002svq.3	-	2	588	c.312C>T	c.(310-312)atC>atT	p.I104I	TMEM127_uc002svr.3_Silent_p.I104I	NM_017849	NP_060319	O75204	TM127_HUMAN	Homo sapiens transmembrane protein 127 (TMEM127), transcript variant 1, mRNA.	104					negative regulation of TOR signaling cascade|negative regulation of cell proliferation	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GACTACACAGGATGCCCAGGA	0.542000														136			53		0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234360641	234360641	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:234360641C>T	uc002vui.1	+	17	2211	c.2199C>T	c.(2197-2199)ccC>ccT	p.P733P	DGKD_uc002vuj.1_Silent_p.P689P|DGKD_uc010fyh.1_Silent_p.P600P|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	733					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	p.P733S(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GTTCCTTACCCGGTGGCTCAG	0.498000														113			42		0	0	1	0	0
RNASE9	390443	broad.mit.edu	37	14	21025008	21025008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:21025008C>T	uc010ahp.3	-	4	491	c.236G>A	c.(235-237)gGa>gAa	p.G79E	RNASE9_uc010aho.3_Missense_Mutation_p.G74E|RNASE9_uc001vxq.4_Missense_Mutation_p.G79E|RNASE9_uc010ahq.3_Missense_Mutation_p.G79E|RNASE9_uc010ahr.3_Missense_Mutation_p.G79E|RNASE9_uc010ahs.3_Missense_Mutation_p.G74E|RNASE9_uc010aht.3_Missense_Mutation_p.G74E|RNASE9_uc010ahu.3_Missense_Mutation_p.G74E|RNASE9_uc021rnt.1_Missense_Mutation_p.G74E	NM_001110359	NP_001103827	P60153	RNAS9_HUMAN	Homo sapiens ribonuclease, RNase A family, 9 (non-active) (RNASE9), transcript variant 1, mRNA.	74						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		TAGTGGCATTCCAGGTTCAAT	0.378000														133			42		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164905801	164905801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:164905801C>T	uc003fej.4	-	1	3262	c.2818G>A	c.(2818-2820)Gga>Aga	p.G940R	SLITRK3_uc003fek.3_Missense_Mutation_p.G940R|SLITRK3_uc021xgy.1_Missense_Mutation_p.G940R	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	940				G -> E (in Ref. 1; BAA74871).		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						AAGCCCTTTCCAGCCGAGAAG	0.502000										HNSCC(40;0.11)				223			170		0	0	1	0	0
SCG2	7857	broad.mit.edu	37	2	224463214	224463214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:224463214C>T	uc021vxk.1	-	0	787	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	SCG2_uc002vnm.3_Missense_Mutation_p.E263K	NM_003469	NP_003460	P13521	SCG2_HUMAN	Homo sapiens secretogranin II (SCG2), mRNA.	263					MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTCACCTCTTCCTGGGTTTGA	0.433000														269			80		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119976733	119976733	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:119976733G>A	uc004bjt.2	-	2	1020	c.919C>T	c.(919-921)Cat>Tat	p.H307Y	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.	307						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						CGGGAGACATGGTTGGCCCGC	0.577000														106			43		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77418784	77418784	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:77418784C>T	uc004ajl.1	-	14	1895	c.1657G>A	c.(1657-1659)Gga>Aga	p.G553R	TRPM6_uc004ajk.1_Missense_Mutation_p.G548R|TRPM6_uc022bib.1_Missense_Mutation_p.G548R|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.	553					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S552S(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						TTTCTATTTCCTGAGGAGTGT	0.393000														80			20		0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80640856	80640856	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:80640856C>T	uc003khl.4	-	7	833	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	260	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)		ACTCCAACTTCAACACTGTGA	0.587000														32			23		0	0	1	0	0
ZMYM6	9204	broad.mit.edu	37	1	35480350	35480350	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:35480350G>A	uc001byh.3	-	5	971	c.743C>T	c.(742-744)cCt>cTt	p.P248L	ZMYM6_uc001byf.1_Missense_Mutation_p.P248L|ZMYM6_uc010oht.2_Missense_Mutation_p.P151L|ZMYM6_uc009vup.3_Missense_Mutation_p.P54L|ZMYM6_uc009vuq.1_Missense_Mutation_p.P248L|ZMYM6_uc009vur.1_Missense_Mutation_p.P54L	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA.	248					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GGATTGGCAAGGACCAGAGCT	0.413000														86			26		0	0	1	0	0
STK24	8428	broad.mit.edu	37	13	99118722	99118722	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:99118722T>A	uc001vnm.1	-	5	962	c.727A>T	c.(727-729)Att>Ttt	p.I243F	STK24_uc001vnn.1_Missense_Mutation_p.I231F|STK24_uc010tim.1_Missense_Mutation_p.I212F	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	Homo sapiens serine/threonine kinase 24 (STK24), transcript variant 1, mRNA.	243	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTCTTTGGAATGAGGAATAAA	0.483000														55			104		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61761118	61761119	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:61761118_61761119CC>TT	uc002eog.2	-	9	2370	c.1415_splice	c.e9-1	p.R472_splice	CDH8_uc002eoh.3_Splice_Site_p.R241_splice	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	472	Cadherin 4.				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)		GACTGTGGTTCCCTATGGGAAG	0.411000														43			12		0	0	1	0	0
SLC2A8	29988	broad.mit.edu	37	9	130167266	130167266	+	Silent	SNP	C	T	T	rs144432732	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:130167266C>T	uc004bqu.3	+	7	1191	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	SLC2A8_uc010mxj.3_Silent_p.I382I	NM_014580	NP_055395	Q9NY64	GTR8_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 8 (SLC2A8), mRNA.	382						cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						GCCTCTTCATCGCCGGTAAGG	0.701000														84			33		0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21109809	21109809	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:21109809G>A	uc001vxv.1	-	0	42	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CTGCCAGGACGAACTCTGTTG	0.453000														188			75		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687295	27687295	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:27687295G>A	uc001itu.2	-	3	2350	c.2232C>T	c.(2230-2232)atC>atT	p.I744I		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	744					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGGAAGAAATGATTTCATTTG	0.308000														19			11		0	0	1	0	0
S100PBP	64766	broad.mit.edu	37	1	33291810	33291810	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:33291810C>T	uc001bvz.3	+	2	387	c.110C>T	c.(109-111)tCc>tTc	p.S37F	S100PBP_uc001bwa.1_Missense_Mutation_p.S37F|S100PBP_uc001bwb.1_Missense_Mutation_p.S37F|S100PBP_uc001bwc.3_Missense_Mutation_p.S37F|S100PBP_uc001bwd.3_Non-coding_Transcript	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	Homo sapiens S100P binding protein (S100PBP), transcript variant 1, mRNA.	37						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)				TTGGATGACTCCTTGCTGGAG	0.478000														158			72		0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94167028	94167028	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:94167028C>T	uc003uni.4	+	8	1315	c.1088C>T	c.(1087-1089)tCa>tTa	p.S363L	CASD1_uc003unh.2_3'UTR|CASD1_uc003unj.4_Missense_Mutation_p.S363L	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	363						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCTGTGTCTTCATTAGAAATA	0.338000														77			25		0	0	1	0	0
CLEC4GP1	440508	broad.mit.edu	37	19	7852839	7852839	+	RNA	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:7852839G>A	uc010xjy.1	+	1		c.160G>A			CLEC4GP1_uc002mij.2_Non-coding_Transcript|CLEC4GP1_uc002mil.2_Non-coding_Transcript|CLEC4GP1_uc002mim.2_5'Flank					Homo sapiens C-type lectin domain family 4, member G pseudogene 1 (CLEC4GP1), non-coding RNA.																		TGTGGGCTGTGATTCTGAGTA	0.627000														18			9		0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141464316	141464316	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:141464316C>T	uc003vwp.1	+	0	420	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F		NM_016943	NP_058639	Q9NYW6	TA2R3_HUMAN	Homo sapiens taste receptor, type 2, member 3 (TAS2R3), mRNA.	120					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					CCCCACATTCCTCTGGCTCAA	0.478000														177			74		0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64210703	64210703	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:64210703C>T	uc002jfn.4	-	6	909	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	284	Sushi-like.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TTAAATTTTTCCTGAATCTTT	0.358000														139			54		0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49724020	49724020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:49724020C>T	uc003jom.3	-	1	403	c.154G>A	c.(154-156)Gca>Aca	p.A52T	EMB_uc011cpy.2_Missense_Mutation_p.A2T	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	52						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)				AAGTTATTTGCCATTATTTCT	0.318000														41			11		0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43176946	43176946	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:43176946C>T	uc002yzn.1	-	1	261	c.213G>A	c.(211-213)aaG>aaA	p.K71K		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	71						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.K71K(3)		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						TCTCCATCTTCTTGGCTTCTT	0.537000														68			27		0	0	1	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671068	112671068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:112671068G>A	uc003pvx.1	+	2	470	c.158G>A	c.(157-159)cGa>cAa	p.R53Q	RFPL4B_uc021zdy.1_Missense_Mutation_p.R53Q	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	Homo sapiens ret finger protein-like 4B (RFPL4B), mRNA.	53							zinc ion binding	p.R53*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CCCTTGTGTCGAGACGTGGTG	0.463000														28			22		0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502846	20502846	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:20502846C>T	uc010tkz.2	-	0	72	c.72G>A	c.(70-72)caG>caA	p.Q24Q		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	24					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)		AGAATAAAATCTGAAGATTTT	0.398000														35			14		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44063083	44063083	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:44063083G>A	uc003bdy.2	-	16	2198	c.1884C>T	c.(1882-1884)ttC>ttT	p.F628F	EFCAB6_uc003bdz.2_Silent_p.F476F|EFCAB6_uc010gzi.2_Silent_p.F476F|EFCAB6_uc010gzj.1_5'UTR|EFCAB6_uc010gzk.1_Non-coding_Transcript	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	628					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)				TACACTTTTTGAATTTTTCAA	0.413000														211			83		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14776177	14776177	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:14776177C>T	uc003zlm.3	-	25	5283	c.4467G>A	c.(4465-4467)cgG>cgA	p.R1489R	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_5'Flank|FREM1_uc003zll.3_Silent_p.R25R	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1489					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.R1490R(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)		CGTGCTCGGTCCGCAGTCCAT	0.527000														37			8		0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67650694	67650694	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:67650694C>T	uc002etl.3	+	4	1443	c.999C>T	c.(997-999)acC>acT	p.T333T	CTCF_uc010cek.3_Silent_p.T5T	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	333					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CCTTTGTGACCAGTGGAGAAT	0.498000														294			58		0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118352031	118352031	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:118352031G>A	uc001lco.1	+	3	326	c.308G>A	c.(307-309)aGc>aAc	p.S103N	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.S103N|PNLIPRP1_uc001lcn.3_Missense_Mutation_p.S103N|PNLIPRP1_uc009xys.1_Non-coding_Transcript	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	103					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GGAGATGAGAGCTGGGTGACA	0.483000														48			48		0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133767775	133767775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:133767775G>A	uc011ecs.2	+	3	407	c.91G>A	c.(91-93)Gaa>Aaa	p.E31K	EYA4_uc011ecq.2_Missense_Mutation_p.E31K|EYA4_uc011ecr.2_Missense_Mutation_p.E31K|EYA4_uc003qec.4_Missense_Mutation_p.E31K|EYA4_uc003qed.4_Missense_Mutation_p.E31K|EYA4_uc003qee.4_Missense_Mutation_p.E31K|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	31					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	p.M30V(1)		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)		CAGGTCTATGGAAATGCAGGA	0.398000														51			35		0	0	1	0	0
PVALB	5816	broad.mit.edu	37	22	37213031	37213032	+	Silent	DNP	GC	AT	AT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:37213031_37213032GC>AT	uc010gwz.3	-	0	48_49	c.18_19GC>AT	c.(16-21)ttgctg>ttATtg	p.6_7LL>LL	PVALB_uc003apx.3_Silent_p.6_7LL>LL	NM_002854	NP_002845	P20472	PRVA_HUMAN	Homo sapiens parvalbumin (PVALB), mRNA.	6							calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						TCAGCGTTCAGCAAGTCTGTCA	0.569000														64			26		0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	44915951	44915951	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:44915951G>A	uc010skz.1	-	18	2282	c.2157C>T	c.(2155-2157)ttC>ttT	p.F719F	NELL2_uc001rof.3_Silent_p.F668F|NELL2_uc001rog.2_Silent_p.F669F|NELL2_uc001roh.2_Silent_p.F669F|NELL2_uc009zkd.2_Silent_p.F621F|NELL2_uc010sla.1_Silent_p.F692F	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	669	VWFC 4.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GACACATAACGAATCCATTCT	0.443000														47			17		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149516415	149516415	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:149516415C>T	uc010lpk.3	+	83	11809	c.11809C>T	c.(11809-11811)Cct>Tct	p.P3937S	SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3940					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGCCCTGGCCCTGGCTGTGG	0.682000														45			15		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41684366	41684366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:41684366G>A	uc003gvz.4	+	25	4151	c.3734G>A	c.(3733-3735)gGa>gAa	p.G1245E	LIMCH1_uc003gwe.4_Missense_Mutation_p.G784E|LIMCH1_uc003gvu.4_Missense_Mutation_p.G861E|LIMCH1_uc003gvv.4_Missense_Mutation_p.G861E|LIMCH1_uc003gvw.4_Missense_Mutation_p.G860E|LIMCH1_uc003gvx.4_Missense_Mutation_p.G873E|LIMCH1_uc003gvy.4_Missense_Mutation_p.G689E|LIMCH1_uc003gwa.4_Missense_Mutation_p.G701E|LIMCH1_uc011byu.2_Missense_Mutation_p.G694E|LIMCH1_uc003gwc.4_Missense_Mutation_p.G706E|LIMCH1_uc003gwd.4_Missense_Mutation_p.G694E|LIMCH1_uc011byv.2_Missense_Mutation_p.G611E|LIMCH1_uc011byw.2_Missense_Mutation_p.G160E	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	861					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						ATAGACCTGGGAAACTGTCAA	0.363000														20			7		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124992918	124992918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:124992918C>T	uc003yqw.3	+	10	1483	c.1277C>T	c.(1276-1278)tCc>tTc	p.S426F		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	426						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)			AAGTTGCCTTCCAAGGACAAA	0.448000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		67			22		0	0	1	0	0
FAM55D	54827	broad.mit.edu	37	11	114453326	114453326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:114453326C>T	uc001ppc.3	-	2	695	c.514G>A	c.(514-516)Gag>Aag	p.E172K	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.	172						extracellular region		p.W171*(1)		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)		ACCTGGCCCTCCCAGAACAGA	0.572000														18			9		0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22652919	22652919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:22652919C>T	uc002yld.2	+	1	326	c.77C>T	c.(76-78)tCa>tTa	p.S26L	NCAM2_uc011acb.2_Intron|NCAM2_uc011acc.2_Missense_Mutation_p.S51L	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	26	Ig-like C2-type 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)		GTGACAATTTCACTTAGCAAA	0.323000														18			11		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61851630	61851630	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:61851630C>T	uc002eog.2	-	6	1985	c.1030G>A	c.(1030-1032)Gac>Aac	p.D344N	CDH8_uc002eoh.3_Missense_Mutation_p.D113N	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	344	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)		GTCTCAAAGTCCAGAGGCTGT	0.438000														25			13		0	0	1	0	0
MAP4K2	5871	broad.mit.edu	37	11	64559445	64559445	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:64559445G>A	uc001obh.3	-	26	2120	c.2028C>T	c.(2026-2028)tgC>tgT	p.C676C	MAP4K2_uc001obi.3_Silent_p.C668C	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	676	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	Golgi membrane|basolateral plasma membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						ACAGGACGCGGCAGCCGGGCC	0.701000														10			7		0	0	1	0	0
FDX1L	112812	broad.mit.edu	37	19	10426415	10426415	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:10426415C>T	uc002mny.1	-	1	185	c.166G>A	c.(166-168)Gag>Aag	p.E56K	FDX1L_uc002mnx.1_Non-coding_Transcript	NM_001031734	NP_001026904	Q6P4F2	ADXL_HUMAN	Homo sapiens ferredoxin 1-like (FDX1L), nuclear gene encoding mitochondrial protein, mRNA.	56					electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			CCCGCGTCCTCCTCTCCAGCC	0.721000														7			3		0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173999060	173999060	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:173999060C>T	uc021xhm.1	+	6	2879	c.2559C>T	c.(2557-2559)ccC>ccT	p.P853P	NLGN1_uc003fio.1_Silent_p.P813P|NLGN1_uc003fip.1_Silent_p.P813P	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	830					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATCCCCATCCCCACCCCCATT	0.428000														14			7		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884134	24884134	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:24884134C>T	uc001wpf.4	+	8	3497	c.3179C>T	c.(3178-3180)gCa>gTa	p.A1060V		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1060					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						CTGCCAGGGGCAGCTTCTCCC	0.647000														126			46		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119942973	119942974	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:119942973_119942974CC>TT	uc001txe.3	+	6	1213_1214	c.748_749CC>TT	c.(748-750)ccc>TTc	p.P250F	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	250										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)		GGGGTCCTCTCCCCAGAGCAGC	0.564000														133			49		0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31626090	31626090	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:31626090G>A	uc001wrc.1	-	11	2377	c.1888C>T	c.(1888-1890)Cct>Tct	p.P630S	HECTD1_uc001wrd.1_Missense_Mutation_p.P145S	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	630					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)		TCAGAGGAAGGACCTGCCAAC	0.363000														85			31		0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107075789	107075789	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:107075789C>T	uc001tlt.3	+	4	501	c.361C>T	c.(361-363)Cct>Tct	p.P121S	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Missense_Mutation_p.P112S|RFX4_uc010swv.2_Non-coding_Transcript|RFX4_uc001tls.3_Missense_Mutation_p.P121S|RFX4_uc001tlv.3_5'Flank|LOC100505978_uc001tlu.3_Non-coding_Transcript	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	112					transcription, DNA-dependent	nucleus	DNA binding	p.G120V(1)|p.T121T(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GCAGCAGTTTCCTCAGTTAAC	0.498000														87			27		0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157736650	157736650	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:157736650A>T	uc001fre.2	-	6	1333	c.1274T>A	c.(1273-1275)aTa>aAa	p.I425K	FCRL2_uc001frd.2_Missense_Mutation_p.I172K|FCRL2_uc010phz.1_Missense_Mutation_p.I425K|FCRL2_uc009wsp.2_Missense_Mutation_p.I141K	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	425					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	SH3/SH2 adaptor activity|receptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACAACCTGATATCTTGTGGAA	0.388000														66			42		0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117849333	117849333	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:117849333C>T	uc001lcj.3	-	8	1814	c.1116G>A	c.(1114-1116)cgG>cgA	p.R372R	GFRA1_uc001lci.3_Silent_p.R367R|GFRA1_uc009xyr.3_Silent_p.R367R	NM_005264	NP_005255	P56159	GFRA1_HUMAN	Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.	372					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)		TGTTCTTAACCCGGAGGGCAG	0.537000														50			32		0	0	1	0	0
NT5C2	22978	broad.mit.edu	37	10	104899169	104899169	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:104899169G>A	uc001kwo.3	-	3	362	c.169C>T	c.(169-171)Ctt>Ttt	p.L57F	NT5C2_uc010qqp.2_Missense_Mutation_p.L28F|NT5C2_uc001kwq.3_Missense_Mutation_p.L57F|NT5C2_uc001kwp.3_5'UTR	NM_012229	NP_036361	P49902	5NTC_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic II (NT5C2), transcript variant 1, mRNA.	57					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	TCACCAGCAAGGGTATAATCC	0.343000														6			3		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106967099	106967099	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:106967099C>T	uc021ser.1	-	263		c.10401G>A								Parts of antibodies, mostly variable regions.																		CTGCTCAGCTCCATGTAGACT	0.542000														286			108		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130283890	130283890	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:130283890C>T	uc010htl.3	+	2	745	c.714C>T	c.(712-714)atC>atT	p.I238I		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	238	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATATGTCAATCAATGGAAGTG	0.428000														199			157		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98165025	98165025	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:98165025C>G	uc001drv.3	-	5	699	c.562G>C	c.(562-564)Gca>Cca	p.A188P	DPYD_uc010oub.1_Non-coding_Transcript	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	188					'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)	GCAATCTTTGCAGAATAGGCT	0.423000														157			33		0	0	1	0	0
GOSR1	9527	broad.mit.edu	37	17	28808215	28808215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:28808215C>T	uc002hfe.3	+	1	112	c.86C>T	c.(85-87)tCc>tTc	p.S29F	GOSR1_uc002hfd.3_Missense_Mutation_p.S29F|GOSR1_uc002hff.3_5'UTR|GOSR1_uc002hfc.1_Missense_Mutation_p.S29F	NM_004871	NP_001007025	O95249	GOSR1_HUMAN	Homo sapiens golgi SNAP receptor complex member 1 (GOSR1), transcript variant 1, mRNA.	29					intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|SNARE complex|integral to membrane	SNAP receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						AAACTAGTTTCCTTCAGCAAA	0.388000														117			42		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117232711	117232711	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:117232711G>A	uc003vjd.3	+	14	2622	c.2490_splice	c.e14+1	p.K830_splice	CFTR_uc011knq.2_Splice_Site_p.K236_splice	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	830					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AAGACTTAAAGGTAGGTATAC	0.363000									Cystic Fibrosis					72			25		0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151109466	151109466	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:151109466G>A	uc001ewv.3	-	10	1177	c.841C>T	c.(841-843)Ctg>Ttg	p.L281L	SEMA6C_uc001ewu.3_Silent_p.L281L|SEMA6C_uc001eww.3_Silent_p.L241L|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.	281	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)			CGAAGCTTCAGGAAGGATGTC	0.582000														257			144		0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014041	75014041	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:75014041G>A	uc002ayp.4	-	2	965	c.843C>T	c.(841-843)atC>atT	p.I281I	CYP1A1_uc010bjy.3_Silent_p.I281I|CYP1A1_uc010bju.3_Silent_p.I17I|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Silent_p.I17I|CYP1A1_uc002ayq.4_Silent_p.I281I|CYP1A1_uc010bjz.1_Silent_p.I17I	NM_000499	NP_000490	P04798	CP1A1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.	281					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	p.I281N(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GGCTGTCTGTGATGTCCCGGA	0.512000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					120			41		0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141233788	141233788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:141233788C>T	uc003llp.3	-	4	3650	c.3533G>A	c.(3532-3534)cGg>cAg	p.R1178Q		NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	0					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TTTGGTGTTCCGGTCTTCCGG	0.652000														13			13		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45833845	45833845	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:45833845G>A	uc010gpt.1	+	19	3134	c.3034G>A	c.(3034-3036)Gac>Aac	p.D1012N	TRPM2_uc002zet.1_Missense_Mutation_p.D1012N|TRPM2_uc002zeu.1_Missense_Mutation_p.D1012N|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.D1012N|TRPM2_uc002zex.1_Missense_Mutation_p.D798N|TRPM2_uc002zey.1_Missense_Mutation_p.D525N	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1012						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.D1012Y(2)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCCCGAGAGCGACGCGACGCA	0.627000														468			137		0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46967611	46967611	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:46967611C>T	uc001jea.3	-	3	619	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	SYT15_uc001jdz.2_Missense_Mutation_p.E156K|SYT15_uc001jeb.3_Missense_Mutation_p.E34K|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	156	C2 1.					integral to membrane|plasma membrane		p.P155S(1)		cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TGCTCATATTCCACCGAGAAC	0.622000														128			43		0	0	1	0	0
ZFP36	7538	broad.mit.edu	37	19	39898530	39898530	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:39898530T>A	uc002olh.1	+	1	230	c.172T>A	c.(172-174)Tcc>Acc	p.S58T		NM_003407	NP_003398	P26651	TTP_HUMAN	Homo sapiens zinc finger protein 36, C3H type, homolog (mouse) (ZFP36), mRNA.	58					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCCTGGCCGCTCCACCAGCCT	0.736000														38			33		0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53200993	53200993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:53200993C>T	uc001saz.3	-	8	1645	c.1645G>A	c.(1645-1647)Gga>Aga	p.G549R		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	475						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CTTCCTAATCCTCCGCTGATG	0.572000														57			28		0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80788495	80788495	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:80788495C>T	uc002kga.3	-	2	2006	c.1695G>A	c.(1693-1695)agG>agA	p.R565R	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.3_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	Homo sapiens zinc finger protein 750 (ZNF750), mRNA.	565						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGAAGGCAGGCCTCGGAGCCT	0.622000														146			64		0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2419097	2419097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:2419097C>T	uc001aji.1	+	7	1446	c.1172C>T	c.(1171-1173)tCc>tTc	p.S391F	PLCH2_uc010nyz.2_Missense_Mutation_p.S180F|PLCH2_uc009vle.1_Missense_Mutation_p.S180F|PLCH2_uc001ajj.1_Missense_Mutation_p.S180F|PLCH2_uc001ajk.1_Missense_Mutation_p.S180F	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	392	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			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)		ACTCTGACTTCCAAGATCCTC	0.597000														60			22		0	0	1	0	0
ABCB10	23456	broad.mit.edu	37	1	229685161	229685161	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:229685161T>A	uc001htp.4	-	1	581	c.538A>T	c.(538-540)Atg>Ttg	p.M180L		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 10 (ABCB10), nuclear gene encoding mitochondrial protein, mRNA.	180	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				ACACTGGACATCGTGAGAAAT	0.522000														30			28		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168101234	168101234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:168101234C>T	uc002udx.3	+	8	3421	c.3332C>T	c.(3331-3333)tCg>tTg	p.S1111L	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.S936L|XIRP2_uc010fpq.3_Missense_Mutation_p.S889L|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	936					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						GAAAAAGTTTCGTTAATGACC	0.368000														32			15		0	0	1	0	0
KLHDC9	126823	broad.mit.edu	37	1	161069387	161069387	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:161069387G>A	uc001fxr.3	+	3	833	c.688_splice	c.e3-1	p.E230_splice	KLHDC9_uc001fxq.3_Splice_Site|KLHDC9_uc021pbt.1_Silent_p.K11K|KLHDC9_uc021pbu.1_3'UTR|KLHDC9_uc001fxs.3_Missense_Mutation_p.G236R	NM_152366	NP_689579	Q8NEP7	KLDC9_HUMAN	Homo sapiens kelch domain containing 9 (KLHDC9), transcript variant 1, mRNA.	230										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TTCTCCCCAAGGAGGAACCAC	0.507000														663			195		0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55033727	55033727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:55033727C>T	uc002xxp.2	+	6	2510	c.2285C>T	c.(2284-2286)gCc>gTc	p.A762V	CASS4_uc010zze.1_Missense_Mutation_p.A708V|CASS4_uc002xxr.2_Missense_Mutation_p.A762V|CASS4_uc010gio.2_Missense_Mutation_p.A325V	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	762					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						CCCAGCCCTGCCGCGCTGGGG	0.637000														36			12		0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2444171	2444171	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:2444171C>T	uc010qxl.2	-	0	105	c.96G>A	c.(94-96)ggG>ggA	p.G32G	TRPM5_uc001lwm.4_Silent_p.G32G|TRPM5_uc009ydn.3_Silent_p.G32G	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	32						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCTTCCCAGACCCTCCAAAGT	0.647000														155			79		0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10518431	10518431	+	Silent	SNP	C	T	T	rs78473994	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:10518431C>T	uc001min.1	+	9	1875	c.1530C>T	c.(1528-1530)ttC>ttT	p.F510F	AMPD3_uc010rbz.1_Silent_p.F342F|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Silent_p.F501F|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Silent_p.F508F|AMPD3_uc009yfy.2_Silent_p.F501F	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	501					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)		TGCCCCTTTTCAAGGCCACTA	0.507000														187			52		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38912235	38912235	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:38912235C>T	uc021wvy.1	-	22	3959	c.3760_splice	c.e22-1	p.A1254_splice		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1254					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.A1254S(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTAAATGTTGCCTGCAACAAA	0.418000														58			16		0	0	1	0	0
SPDYE4	388333	broad.mit.edu	37	17	8660620	8660621	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:8660620_8660621GG>AA	uc010cnz.1	-	1	476_477	c.299_300CC>TT	c.(298-300)tcc>tTT	p.S100F		NM_001128076	NP_001121548	A6NLX3	SPDE4_HUMAN	Homo sapiens speedy homolog E4 (Xenopus laevis) (SPDYE4), mRNA.	100										breast(1)|endometrium(2)|kidney(1)	4						CAGGGAGCACGGAGGATGCTCG	0.569000														3			4		0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	161807861	161807861	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:161807861T>C	uc021zhu.1	-	10	1364	c.1273A>G	c.(1273-1275)Agt>Ggt	p.S425G	PARK2_uc003qtv.4_Non-coding_Transcript|PARK2_uc003qtw.4_Missense_Mutation_p.S187G|PARK2_uc010kkd.3_Missense_Mutation_p.S187G|PARK2_uc003qtx.4_Missense_Mutation_p.S378G|PARK2_uc021zhs.1_Missense_Mutation_p.S300G|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Missense_Mutation_p.S350G|PARK2_uc003qtz.4_Missense_Mutation_p.S229G|PARK2_uc021zhv.1_Missense_Mutation_p.S299G|PARK2_uc021zhw.1_Missense_Mutation_p.S187G|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Missense_Mutation_p.S328G|PARK2_uc011egf.2_Missense_Mutation_p.S52G	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	378					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		AATACGGCACTGCACTCCCCT	0.493000														64			44		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	120053793	120053793	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:120053793C>T	uc004bjt.2	-	2	544	c.443_splice	c.e2-1	p.E148_splice		NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	148						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						CCAGACATCTCTGCAAGACAA	0.587000														41			19		0	0	1	0	0
TYRP1	7306	broad.mit.edu	37	9	12695584	12695584	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:12695584A>G	uc003zkv.4	+	2	633	c.455A>G	c.(454-456)aAg>aGg	p.K152R		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	152					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)		GATATGGCAAAGCGCACAACT	0.423000									Oculocutaneous Albinism					72			24		0	0	1	0	0
VNN1	8876	broad.mit.edu	37	6	133013660	133013660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:133013660C>T	uc003qdo.3	-	4	910	c.890G>A	c.(889-891)gGa>gAa	p.G297E		NM_004666	NP_004657	O95497	VNN1_HUMAN	Homo sapiens vanin 1 (VNN1), mRNA.	297	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	p.G297V(2)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		GAGGAGTTTTCCCTCTTCTGT	0.438000														20			11		0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66500688	66500688	+	RNA	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:66500688T>C	uc004aed.1	+	2		c.781T>C								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		ACCCCCGGCTTCAGCACCCCT	0.682000														7			3		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433120	40433120	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:40433120C>T	uc002omp.4	-	1	1157	c.1149G>A	c.(1147-1149)tgG>tgA	p.W383*		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	383	IgGFc-binding.					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)			GCACAGCCTCCCAGGTGAGCT	0.617000														27			37		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28968889	28968889	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:28968889A>G	uc002kwr.2	+	4	560	c.425A>G	c.(424-426)gAg>gGg	p.E142G	DSG4_uc002kwq.2_Missense_Mutation_p.E142G	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	142	Cadherin 1.		Missing (in LAH1).		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)			AGGCCTCTTGAGCTTAGAGTC	0.398000														35			31		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64476784	64476784	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:64476784C>T	uc001xgl.3	+	31	4908	c.4678C>T	c.(4678-4680)Ctg>Ttg	p.L1560L	SYNE2_uc001xgm.3_Silent_p.L1560L|SYNE2_uc021ruh.1_Silent_p.L1560L	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	1560					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)		TGTCATCTCCCTGCAGGCTTC	0.418000														32			12		0	0	1	0	0
DUOXA2	405753	broad.mit.edu	37	15	45409340	45409340	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:45409340C>T	uc001zuo.3	+	4	887	c.606C>T	c.(604-606)gcC>gcT	p.A202A	DUOX2_uc001zun.3_5'Flank|DUOX2_uc010bea.3_5'Flank|DUOXA2_uc010beb.3_Non-coding_Transcript	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN	Homo sapiens dual oxidase maturation factor 2 (DUOXA2), mRNA.	202					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CCACGCCGGCCCCGCTCTACG	0.701000														29			11		0	0	1	0	0
FAM3D	131177	broad.mit.edu	37	3	58639463	58639463	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:58639463C>T	uc003dkq.3	-	2	356	c.59G>A	c.(58-60)tGg>tAg	p.W20*		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	Homo sapiens family with sequence similarity 3, member D (FAM3D), mRNA.	20					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)		AATAAACATCCATGTCGTGAC	0.567000														242			59		0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165763	172165763	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:172165763G>T	uc003fib.2	-	0	484	c.441C>A	c.(439-441)ttC>ttA	p.F147L	GHSR_uc011bpv.2_Missense_Mutation_p.F147L	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	147					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.C146C(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)			CCCGGAGTGGGAAGCAGATGG	0.622000														61			23		4.26978e-12	4.30646e-12	1	1	0
RNF20	56254	broad.mit.edu	37	9	104302837	104302837	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:104302837C>T	uc004bbn.3	+	3	453	c.363C>T	c.(361-363)ctC>ctT	p.L121L		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	Homo sapiens ring finger protein 20 (RNF20), mRNA.	121					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GAGACCTACTCACAGAACGAA	0.453000														49			21		0	0	1	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013256	142013256	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:142013256G>A	uc003vxg.3	+	1	140	c.111G>A	c.(109-111)aaG>aaA	p.K37K	TRBV2_uc011kro.1_Intron|TRBV4-1_uc022ana.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		TGACAAATAAGAAGTCTTTGA	0.458000														87			32		0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163163287	163163287	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:163163287T>C	uc002uce.3	-	2	923	c.701A>G	c.(700-702)gAg>gGg	p.E234G		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	234					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						GACCTCCTTCTCCAGATTTGG	0.383000														64			19		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2375243	2375243	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:2375243G>A	uc002wfy.1	+	1	214	c.153G>A	c.(151-153)gaG>gaA	p.E51E	TGM6_uc010gal.1_Silent_p.E51E	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	51					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)	TGGACTGTGAGGAGATCCTCA	0.592000														25			13		0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65392945	65392946	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:65392945_65392946CC>TT	uc001oey.2	+	17	3099_3100	c.3099_3100CC>TT	c.(3097-3102)cccccg>ccTTcg	p.P1034S	PCNXL3_uc009yqn.3_5'UTR|PCNXL3_uc001oez.2_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1034						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGGCCGAGCCCCCGGACCCCTT	0.698000														53			30		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88420186	88420186	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:88420186A>T	uc002bme.2	-	19	2806	c.2500T>A	c.(2500-2502)Tac>Aac	p.Y834N	NTRK3_uc002bmh.2_Missense_Mutation_p.Y812N|NTRK3_uc002bmf.2_Missense_Mutation_p.Y820N|NTRK3_uc021sua.1_Missense_Mutation_p.Y812N	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	834	Protein kinase.	Interaction with PLC-gamma-1 (By similarity).			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)			ATGTCCAGGTAGATTGGGGTG	0.537000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				76			26		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133187826	133187826	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:133187826G>A	uc003ytj.3	-	4	1032	c.807C>T	c.(805-807)ttC>ttT	p.F269F	KCNQ3_uc003yti.3_Silent_p.F149F|KCNQ3_uc010mdt.3_Silent_p.F269F	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	269					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)			TGAGTGTCAGGAAACCGATGT	0.493000														25			14		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56090706	56090706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:56090706C>T	uc001shh.3	-	11	1946	c.1726G>A	c.(1726-1728)Gga>Aga	p.G576R	ITGA7_uc001shg.3_Missense_Mutation_p.G572R|ITGA7_uc010sps.2_Missense_Mutation_p.G479R|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Missense_Mutation_p.G453R	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	616					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATGGCGTCTCCACAGACTCGG	0.572000														60			21		0	0	1	0	0
IL12RB1	3594	broad.mit.edu	37	19	18170811	18170811	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:18170811C>T	uc002nhx.1	-	16	2047	c.1996G>A	c.(1996-1998)Ggc>Agc	p.G666S	IL12RB1_uc002nhw.1_Missense_Mutation_p.G626S|IL12RB1_uc010xqb.1_Missense_Mutation_p.G626S	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	626					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						GTCCTCTCGCCTTTGTCCCAG	0.587000														30			26		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003412	122003412	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:122003412G>A	uc003eew.4	+	6	3079	c.2641G>A	c.(2641-2643)Gag>Aag	p.E881K	CASR_uc003eev.4_Missense_Mutation_p.E871K	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	871	Interaction with RNF19A.		F -> L (in FHH; mutant CASR has a right- shifted dose-response to extracellular calcium concentrations; activated by a higher calcium concentrations than the wild-type).		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)	CACCATCGAGGAGGTGCGTTG	0.607000														54			59		0	0	1	0	0
MRAP2	112609	broad.mit.edu	37	6	84799011	84799011	+	Silent	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	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														47			23		0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36080601	36080601	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:36080601G>A	uc003zyv.3	+	7	492	c.406_splice	c.e7-1	p.N136_splice	RECK_uc003zyu.4_Splice_Site_p.N136_splice|RECK_uc003zyw.3_Splice_Site_p.N8_splice|RECK_uc003zyx.3_Splice_Site	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	136	5 X Knot repeats.					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)			TCAATTTACAGAATGCTCTTT	0.289000														23			9		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56044665	56044665	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:56044665C>T	uc003pcs.3	-	2	583	c.351G>A	c.(349-351)ggG>ggA	p.G117G	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Silent_p.G117G|COL21A1_uc003pcu.1_Silent_p.G117G	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	117	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)			GGATGGCCTTCCCTGTCTTTG	0.478000														40			13		0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	141847198	141847198	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:141847198G>A	uc003iio.1	-	4	1574	c.920C>T	c.(919-921)cCc>cTc	p.P307L	RNF150_uc010iok.1_Missense_Mutation_p.P265L|RNF150_uc003iip.1_Missense_Mutation_p.P307L	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	307						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TAGAAGCCAGGGGTCAACACA	0.502000														56			21		0	0	1	0	0
SEC23IP	11196	broad.mit.edu	37	10	121658152	121658152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:121658152C>T	uc001leu.2	+	1	587	c.377C>T	c.(376-378)tCc>tTc	p.S126F	SEC23IP_uc010qtc.2_Intron	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.	126	Interaction with SEC23A.				Golgi organization|intracellular protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|endoplasmic reticulum	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ACAACTGGATCCCAAGATGTC	0.468000														100			81		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7671380	7671380	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:7671380G>A	uc002mgu.4	+	3	645	c.544G>A	c.(544-546)Gag>Aag	p.E182K	CAMSAP3_uc002mgv.4_Missense_Mutation_p.E182K	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	182	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						GCGGCTGCAGGAGAAGACCGA	0.716000														12			6		0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109745596	109745596	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:109745596C>T	uc021orb.1	+	21	3225	c.3004C>T	c.(3004-3006)Ctg>Ttg	p.L1002L	KIAA1324_uc010ovg.2_3'UTR|KIAA1324_uc009wey.3_Silent_p.L915L|KIAA1324_uc001dwr.3_Silent_p.L652L	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	1002					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)		CTCAGTGCCGCTGAAGACATC	0.567000														199			180		0	0	1	0	0
C10orf96	374355	broad.mit.edu	37	10	118100268	118100268	+	Missense_Mutation	SNP	C	T	T	rs117513116		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:118100268C>T	uc001lck.3	+	3	439	c.188C>T	c.(187-189)tCc>tTc	p.S63F		NM_198515	NP_940917	P0C7W6	CJ096_HUMAN	Homo sapiens chromosome 10 open reading frame 96 (C10orf96), mRNA.	63										kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)	18		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)		TTTGAAAAATCCTTCTTCTTA	0.294000														16			6		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89941810	89941810	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:89941810C>T	uc003kju.3	+	15	3020	c.2924C>T	c.(2923-2925)aCc>aTc	p.T975I	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	975	Calx-beta 7.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAAGAATTTACCGTTATCCTA	0.338000														9			10		0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50189510	50189510	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:50189510G>A	uc009zlk.2	-	7	2335	c.2133C>T	c.(2131-2133)tcC>tcT	p.S711S	NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_Silent_p.S304S	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	707										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCCTGTGGATGGAGGGCACCA	0.632000														22			4		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150791502	150791502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:150791502G>A	uc004fev.4	+	6	844	c.512G>A	c.(511-513)gGa>gAa	p.G171E		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	171						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TATCTTGTGGGAAATGTTTGC	0.512000														49			24		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2411557	2411557	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:2411557G>A	uc002wfy.1	+	11	1912	c.1851G>A	c.(1849-1851)atG>atA	p.M617I	TGM6_uc010gal.1_Intron	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	617					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)	GCCCAGCCATGGTGGGAGTGG	0.597000														186			77		0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5079978	5079978	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:5079978C>T	uc010qyw.2	-	0	880	c.880G>A	c.(880-882)Gga>Aga	p.G294R		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G294R(2)		endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTTCTGACTCCATATATGACA	0.408000														51			11		0	0	1	0	0
ZNF133	7692	broad.mit.edu	37	20	18296038	18296038	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:18296038C>T	uc010zrv.1	+	4	755	c.552C>T	c.(550-552)ctC>ctT	p.L184L	ZNF133_uc010gcq.2_Silent_p.L181L|ZNF133_uc010zrw.1_Silent_p.L118L|ZNF133_uc010gcr.2_Silent_p.L181L|ZNF133_uc010zrx.1_Silent_p.L86L|ZNF133_uc002wql.4_Silent_p.L180L|ZNF133_uc010gcs.3_Silent_p.L180L|ZNF133_uc010zry.2_Silent_p.L86L|ZNF133_uc002wqm.2_Silent_p.L181L	NM_003434	NP_003425	P52736	ZN133_HUMAN	Homo sapiens zinc finger protein 133 (ZNF133), transcript variant 1, mRNA.	181						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						GGAACGGCCTCAGAGGGGTGG	0.532000														139			61		0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48413836	48413836	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:48413836C>T	uc001jfa.1	-	1	1192	c.1032G>A	c.(1030-1032)tgG>tgA	p.W344*		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	344					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						GTGCAATGATCCAGCTGTCCC	0.587000														79			40		0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42360873	42360873	+	Silent	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:42360873T>C	uc001wvm.3	+	3	3004	c.1806T>C	c.(1804-1806)tgT>tgC	p.C602C	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.	602						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)		ATGCCCAGTGTTGTAAAGCTA	0.478000										HNSCC(30;0.082)				69			30		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468130	10468130	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:10468130C>T	uc003wtc.3	-	3	3707	c.3478G>A	c.(3478-3480)Gga>Aga	p.G1160R		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1160					intracellular signal transduction			p.P1159S(1)		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)		ACGTCACATCCTGGCCACAGG	0.577000														81			23		0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30862382	30862383	+	Missense_Mutation	DNP	CC	TT	TT	rs150721017	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:30862382_30862383CC>TT	uc003nrv.3	+	9	1489_1490	c.1447_1448CC>TT	c.(1447-1449)ccg>TTg	p.P483L	DDR1_uc010jse.3_Missense_Mutation_p.P483L|DDR1_uc003nrq.3_Missense_Mutation_p.P483L|DDR1_uc003nrr.3_Missense_Mutation_p.P483L|DDR1_uc003nrs.3_Missense_Mutation_p.P483L|DDR1_uc003nrt.3_Missense_Mutation_p.P483L|DDR1_uc011dms.2_Missense_Mutation_p.P501L|DDR1_uc003nru.3_Missense_Mutation_p.P483L|DDR1_uc003nry.2_Missense_Mutation_p.P483L|DDR1_uc003nrx.2_Missense_Mutation_p.R456C|DDR1_uc003nrw.1_Missense_Mutation_p.R255C	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	483	Gly/Pro-rich.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	AGAGCCACCCCCGTACCAGGAG	0.629000														151			40		0	0	1	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10912037	10912037	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:10912037C>T	uc002ras.3	+	6	652	c.543C>T	c.(541-543)ctC>ctT	p.L181L	ATP6V1C2_uc002rat.3_Silent_p.L181L	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	181					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CTGAATATCTCGTCACACTTC	0.552000														263			33		0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151820122	151820122	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:151820122G>A	uc004ffp.1	+	7	1055	c.1035G>A	c.(1033-1035)gaG>gaA	p.E345E		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	345						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)					CCTTGCTGGAGTATGTCTACA	0.512000														141			80		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558177	140558177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140558177G>A	uc011dai.2	+	0	807	c.562G>A	c.(562-564)Gat>Aat	p.D188N	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	188	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)			CAAACGCAGTGATGGCAGGAA	0.493000														236			36		0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7303615	7303615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:7303615C>T	uc001qss.3	+	14	3057	c.2519C>T	c.(2518-2520)cCt>cTt	p.P840L	CLSTN3_uc001qsr.3_Missense_Mutation_p.P828L	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	828					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CAGCCCCCGCCTGAGATGGCT	0.642000														35			16		0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133049730	133049730	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:133049730G>A	uc003ytg.2	-	6	586	c.586C>T	c.(586-588)Cct>Tct	p.P196S	OC90_uc011lix.1_Missense_Mutation_p.P212S	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	212					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)			GGCTCCACAGGAACCACTGGA	0.537000														10			3		0	0	1	0	0
DTX3	196403	broad.mit.edu	37	12	58001367	58001367	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:58001367C>T	uc001sow.1	+	4	1058	c.721C>T	c.(721-723)Cag>Tag	p.Q241*	DTX3_uc001sov.1_Nonsense_Mutation_p.Q234*|DTX3_uc001sox.1_Nonsense_Mutation_p.Q234*|DTX3_uc001soy.1_Nonsense_Mutation_p.Q234*|ARHGEF25_uc009zpy.3_5'Flank|ARHGEF25_uc001soz.1_5'Flank	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN	Homo sapiens deltex homolog 3 (Drosophila) (DTX3), mRNA.	241					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					CATTGTCATCCAGTACGTCTT	0.602000														153			47		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87060831	87060831	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:87060831G>A	uc003uiv.1	-	14	1858	c.1782C>T	c.(1780-1782)gtC>gtT	p.V594V	ABCB4_uc003uiw.1_Silent_p.V594V|ABCB4_uc003uix.1_Silent_p.V594V	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	594	ABC transporter 1.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.T593T(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTGCATTTCGGACCGTAGACA	0.488000														121			42		0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95513821	95513821	+	RNA	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:95513821G>A	uc010fhp.3	-	4		c.584C>T						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						TGTCTTGAGCGAAGACATCAA	0.353000														770			35		0	0	1	0	0
ZNF582	147948	broad.mit.edu	37	19	56896435	56896435	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:56896435A>T	uc002qmy.3	-	4	737	c.444T>A	c.(442-444)agT>agA	p.S148R	ZNF582_uc002qmz.1_Missense_Mutation_p.S117R	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	Homo sapiens zinc finger protein 582 (ZNF582), mRNA.	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E147D(1)		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)		CATCTTGGAAACTTGAACACT	0.403000														80			55		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140734935	140734935	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140734935C>T	uc003ljq.2	+	0	168	c.168C>T	c.(166-168)ccC>ccT	p.P56P	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Silent_p.P56P	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	56	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)			GGTTGGCGCCCCGGGAGCTGG	0.637000														93			54		0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158041795	158041795	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:158041795G>A	uc003ipj.2	+	2	412	c.210G>A	c.(208-210)agG>agA	p.R70R	GLRB_uc021xtp.1_Silent_p.R70R|GLRB_uc021xtq.1_Silent_p.R70R	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	70					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	ATGATCCCAGGATAAGACCAA	0.353000														25			4		0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48604129	48604129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:48604129G>A	uc003gyh.1	-	12	1548	c.943C>T	c.(943-945)Cca>Tca	p.P315S	FRYL_uc003gyk.3_Missense_Mutation_p.P315S	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GTAATTAGTGGATATAAAGCC	0.303000														34			24		0	0	1	0	0
CLIC5	53405	broad.mit.edu	37	6	45870832	45870832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:45870832C>T	uc003oxv.3	-	5	1332	c.1226G>A	c.(1225-1227)cGa>cAa	p.R409Q	CLIC5_uc003oxu.3_Missense_Mutation_p.R250Q	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	409					female pregnancy	Golgi apparatus|actin cytoskeleton|cell cortex|chloride channel complex|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						TGCTCAGGATCGGCTGAGGCG	0.552000														84			26		0	0	1	0	0
TFF1	7031	broad.mit.edu	37	21	43783485	43783485	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:43783485C>T	uc002zax.1	-	1	157	c.117G>A	c.(115-117)caG>caA	p.Q39Q		NM_003225	NP_003216	P04155	TFF1_HUMAN	Homo sapiens trefoil factor 1 (TFF1), mRNA.	39	P-type.				carbohydrate metabolic process|response to estradiol stimulus		growth factor activity			cervix(1)|lung(1)	2						AACCACAATTCTGTCTTTCAC	0.507000														68			24		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1535814	1535815	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:1535814_1535815GG>AA	uc003skn.2	-	11	1789_1790	c.1688_1689CC>TT	c.(1687-1689)gcc>gTT	p.A563V	INTS1_uc003skp.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	563					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTTTGTCCCAGGCGATGCCGGC	0.653000														75			31		0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241094032	241094032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:241094032C>T	uc001hyv.2	-	5	700	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	RGS7_uc010pyh.2_Missense_Mutation_p.E98K|RGS7_uc010pyj.1_Missense_Mutation_p.E40K|RGS7_uc001hyu.2_Missense_Mutation_p.E124K|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Missense_Mutation_p.E124K	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	124					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)			TCTGTGTTTTCCGGCTCCCAA	0.383000														248			136		0	0	1	0	0
DLK1	8788	broad.mit.edu	37	14	101201152	101201152	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:101201152G>A	uc001yhs.4	+	4	1275	c.1071G>A	c.(1069-1071)gaG>gaA	p.E357E	DLK1_uc001yhu.4_Silent_p.E284E|DLK1_uc021sbs.1_Silent_p.E69E	NM_003836	NP_003827	P80370	DLK1_HUMAN	Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA.	357					multicellular organismal development	extracellular space|integral to membrane|soluble fraction		p.G356E(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				ACAGCGGGGAGGACCTGGCCG	0.577000														151			57		0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132161803	132161803	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:132161803C>T	uc011mvf.2	-	0	498	c.446G>A	c.(445-447)gGa>gAa	p.G149E	USP26_uc010nrm.1_Missense_Mutation_p.G149E	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	149					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.G149E(2)		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)					TGTCCCACTTCCTTTTGCTAT	0.393000														14			17		0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165551228	165551228	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:165551228G>A	uc002ucp.3	-	11	3010	c.2788C>T	c.(2788-2790)Cct>Tct	p.P930S	COBLL1_uc002ucq.3_Missense_Mutation_p.P892S|COBLL1_uc010zcw.2_Missense_Mutation_p.P997S|COBLL1_uc010zcx.2_Missense_Mutation_p.P938S|COBLL1_uc002ucn.3_Missense_Mutation_p.P358S|COBLL1_uc002uco.3_Missense_Mutation_p.P661S	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	968										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GCAGGATTAGGGGCAGCATGG	0.478000														36			10		0	0	1	0	0
ZNF654	55279	broad.mit.edu	37	3	88188717	88188717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:88188717C>T	uc003dqv.3	+	0	456	c.257C>T	c.(256-258)tCt>tTt	p.S86F	CGGBP1_uc003dqu.3_Intron	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN	Homo sapiens zinc finger protein 654 (ZNF654), mRNA.	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AATGGGAATTCTGATAGTAAG	0.393000														42			10		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31299721	31299721	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:31299721C>T	uc003jhe.2	+	4	1154	c.794C>T	c.(793-795)cCt>cTt	p.P265L	CDH6_uc003jhd.2_Missense_Mutation_p.P265L	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	265	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AACGACAACCCTCCCCGATTC	0.428000														53			25		0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68156594	68156594	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:68156594C>T	uc002evo.2	+	1	1124	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S	NFATC3_uc010vkl.2_5'UTR|NFATC3_uc010vkm.2_5'UTR|NFATC3_uc010vkn.2_5'UTR|NFATC3_uc010vko.2_5'UTR|NFATC3_uc010vkp.2_5'UTR|NFATC3_uc010vkq.2_5'UTR|NFATC3_uc002evl.3_Intron|NFATC3_uc002evk.3_Missense_Mutation_p.P270S|NFATC3_uc002evm.2_Missense_Mutation_p.P270S|NFATC3_uc002evn.2_Missense_Mutation_p.P270S|NFATC3_uc010vkr.2_5'UTR|NFATC3_uc010vks.2_5'UTR|NFATC3_uc010vkt.2_5'UTR|NFATC3_uc010vku.2_5'UTR|NFATC3_uc010vkv.2_5'UTR|NFATC3_uc010vkw.2_5'UTR|NFATC3_uc010vkx.2_5'UTR|NFATC3_uc010vky.2_5'UTR|NFATC3_uc010vkz.2_5'UTR|NFATC3_uc010vla.2_5'UTR|NFATC3_uc010vlb.2_5'UTR|NFATC3_uc010vlc.2_5'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	270	3 X SP repeats.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	p.P270S(6)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GCCCACATCCCCCTGTGGGAA	0.582000														70			44		0	0	1	0	0
RDH16	8608	broad.mit.edu	37	12	57348914	57348915	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:57348914_57348915GG>AA	uc001smi.4	-	1	519_520	c.347_348CC>TT	c.(346-348)tcc>tTT	p.S116F	RDH16_uc009zpa.3_Intron	NM_003708	NP_003699	O75452	RDH16_HUMAN	Homo sapiens retinol dehydrogenase 16 (all-trans) (RDH16), mRNA.	116					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CCGTGGGCAAGGAGATGCCAGC	0.554000														52			15		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21213444	21213444	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:21213444C>T	uc010bwn.1	-	10	1467	c.1385G>A	c.(1384-1386)gGa>gAa	p.G462E	ZP2_uc002dii.2_Missense_Mutation_p.G423E	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	423	ZP.				binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CGTTCCACATCCATTCAGGGG	0.498000														34			21		0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33512498	33512498	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:33512498G>A	uc002nuf.3	-	3	435	c.369C>T	c.(367-369)gtC>gtT	p.V123V	RHPN2_uc010xro.2_Intron|RHPN2_uc002nue.3_5'UTR	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA.	123	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					CTGCAAAGTCGACGTCTTTCG	0.493000														48			25		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2044132	2044132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:2044132G>A	uc003wpx.4	+	17	2309	c.2171G>A	c.(2170-2172)gGc>gAc	p.G724D	MYOM2_uc011kwi.2_Missense_Mutation_p.G149D	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	724	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AACTGTGACGGCCACTCCATG	0.577000														139			71		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164735827	164735827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:164735827G>A	uc003fei.3	-	28	3514	c.3451C>T	c.(3451-3453)Ccc>Tcc	p.P1151S		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1151	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)	ATGTAATAGGGATGAAATCCA	0.313000										HNSCC(35;0.089)				46			11		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45949736	45949736	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:45949736G>A	uc002zfe.1	-	4	801	c.735C>T	c.(733-735)gtC>gtT	p.V245V	TSPEAR_uc010gpv.1_Silent_p.V177V	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	245					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						GAGCCTGCAGGACCCGTGGGA	0.637000														86			22		0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58519830	58519830	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:58519830G>A	uc003dkl.3	-	3	541	c.366C>T	c.(364-366)ttC>ttT	p.F122F		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.	122					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		GGGCTCTCACGAAGACTCTGT	0.527000														151			109		0	0	1	0	0
PDCD1LG2	80380	broad.mit.edu	37	9	5569981	5569982	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:5569981_5569982GG>AA	uc011lmc.2	+	6	1121_1122	c.848_849GG>AA	c.(847-849)ggg>gAA	p.G283E	PLGRKT_uc003zjd.3_Intron|PDCD1LG2_uc003zjg.4_3'UTR|PDCD1LG2_uc011lmd.2_Missense_Mutation_p.G280E	NM_025239	NP_079515	Q9BQ51	PD1L2_HUMAN	Homo sapiens programmed cell death 1 ligand 2 (PDCD1LG2), mRNA.	0					T cell costimulation|immune response	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		TGGGAGCCAGGGTGACCTGATA	0.416000														143			61		0	0	1	0	0
CSF1	1435	broad.mit.edu	37	1	110466394	110466394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:110466394C>T	uc001dyu.2	+	5	1564	c.1151C>T	c.(1150-1152)cCc>cTc	p.P384L	CSF1_uc001dyt.2_Intron|CSF1_uc021ori.1_Intron|CSF1_uc001dyw.4_Missense_Mutation_p.P384L|CSF1_uc021orj.1_Intron	NM_172212	NP_757351	P09603	CSF1_HUMAN	Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA.	384					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		AATCACACCCCCCAGAAGACA	0.657000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		165			40		0	0	1	0	0
BEGAIN	57596	broad.mit.edu	37	14	101005001	101005001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:101005001C>T	uc010txa.2	-	5	1233	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	BEGAIN_uc001yhp.3_Missense_Mutation_p.E299K|BEGAIN_uc001yhq.3_Missense_Mutation_p.E363K	NM_001159531	NP_065887	Q9BUH8	BEGIN_HUMAN	Homo sapiens brain-enriched guanylate kinase-associated homolog (rat) (BEGAIN), transcript variant 1, mRNA.	363						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GGGGCCACTTCGGCCTCCAGC	0.726000														5			3		0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150721147	150721147	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:150721147G>A	uc011kvc.2	-	0	440	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L	ATG9B_uc003wig.4_5'Flank	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	122	Pro-rich.				autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCGGGGCCAGGGGTGGGGTG	0.647000														26			9		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39753131	39753131	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:39753131G>A	uc021olt.1	+	13	1749	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q	MACF1_uc021ols.1_Missense_Mutation_p.R566Q|MACF1_uc001cdc.2_Missense_Mutation_p.R566Q|MACF1_uc001cda.1_Missense_Mutation_p.R474Q	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	566					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)			TCCTGGTTCCGAAAGCCTATG	0.468000														223			96		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49424442	49424442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:49424442G>A	uc001rta.4	-	40	13781	c.13781C>T	c.(13780-13782)gCc>gTc	p.A4594V		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4594					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						ACTTCCAAAGGCCCCCCTCAG	0.547000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				54			27		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408543	10408543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:10408543C>T	uc002gmo.3	-	20	2466	c.2372G>A	c.(2371-2373)cGa>cAa	p.R791Q	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	791	IQ.					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						GGCCTGGGTTCGGGTAATCAG	0.458000														50			37		0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165183036	165183036	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:165183036C>T	uc001gcz.2	-	4	705	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	LMX1A_uc021pdz.1_Missense_Mutation_p.E171K|LMX1A_uc021pdy.1_5'Flank|LMX1A_uc001gcw.2_5'Flank	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	171						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					AGACTTTCTTCATCATCACTT	0.498000														192			122		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120288023	120288023	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:120288023G>A	uc001txj.2	-	4	527	c.471C>T	c.(469-471)atC>atT	p.I157I	CIT_uc001txi.2_Silent_p.I157I	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	157	Protein kinase.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GTAATTGGGGGATCCACGGGC	0.408000														355			116		0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74468381	74468381	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:74468381G>A	uc002axg.1	+	1	1464	c.1182G>A	c.(1180-1182)ggG>ggA	p.G394G	ISLR_uc002axh.1_Silent_p.G394G|ISLR_uc021sqf.1_Silent_p.G394G	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	394					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCCGTGCTGGGAACCCTGAGG	0.617000														77			27		0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45802443	45802443	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:45802443C>T	uc003bgc.3	-	3	565	c.513G>A	c.(511-513)aaG>aaA	p.K171K	SMC1B_uc003bgd.3_Silent_p.K171K|SMC1B_uc003bge.1_5'UTR	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	171					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		ACTTTCTTTTCTTTTCTTCAT	0.368000														105			78		0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468784	35468784	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:35468784C>T	uc021wir.1	+	0	1287	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	SLC5A3_uc002yto.3_Silent_p.I429I|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	429						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TGCCAATCATCGTGGAGATGC	0.502000														122			42		0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51453277	51453277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:51453277C>T	uc002pue.3	-	3	387	c.169G>A	c.(169-171)Gac>Aac	p.D57N	KLK5_uc002puf.3_Missense_Mutation_p.D57N|KLK5_uc002pug.3_Missense_Mutation_p.D57N	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	57					epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.E56K(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)		GACCGGGCGTCTTCCCCGGCC	0.622000														36			10		0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155935123	155935123	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:155935123G>A	uc001fmu.2	-	9	941	c.686C>T	c.(685-687)aCc>aTc	p.T229I	ARHGEF2_uc001fmr.2_Missense_Mutation_p.T157I|ARHGEF2_uc001fms.2_Missense_Mutation_p.T184I|ARHGEF2_uc001fmt.2_Missense_Mutation_p.T184I|ARHGEF2_uc010pgt.1_Missense_Mutation_p.T157I|ARHGEF2_uc010pgu.1_Missense_Mutation_p.T229I	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	184					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)					CACGGATAGGGTTCGGTTCCG	0.592000														94			42		0	0	1	0	0
LRRC37A2	474170	broad.mit.edu	37	17	45127195	45127195	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:45127195G>A	uc010wkj.1	+	1	747	c.393G>A	c.(391-393)caG>caA	p.Q131Q	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1267						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CCCTACCACAGGTGAGAGACA	0.473000														87			41		0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101203629	101203629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:101203629C>T	uc003yjh.2	+	8	930	c.844C>T	c.(844-846)Cgt>Tgt	p.R282C	SPAG1_uc003yjg.1_Missense_Mutation_p.R282C|SPAG1_uc003yji.2_Missense_Mutation_p.R282C	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA.	282					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TCTTCTGCGTCGTGCTACTAC	0.363000														62			11		0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44282236	44282236	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:44282236G>A	uc003tkq.2	-	8	829	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L	CAMK2B_uc003tkp.2_Silent_p.L207L|CAMK2B_uc003tkr.2_Silent_p.L207L|CAMK2B_uc003tks.2_Silent_p.L207L|CAMK2B_uc003tku.2_Silent_p.L207L|CAMK2B_uc003tkv.2_Silent_p.L207L|CAMK2B_uc003tkt.2_Silent_p.L207L|CAMK2B_uc003tkw.2_Silent_p.L207L|CAMK2B_uc010kyc.2_Silent_p.L207L	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA.	207	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CCCACGAGCAGGATGTACAGG	0.627000														18			10		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42532252	42532252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:42532252C>T	uc010dni.3	+	3	3243	c.2947C>T	c.(2947-2949)Ccc>Tcc	p.P983S		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	983						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)		GAATCCATATCCCAGCATTTT	0.453000									Schinzel-Giedion syndrome					64			52		0	0	1	0	0
JKAMP	51528	broad.mit.edu	37	14	59954515	59954515	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:59954515T>C	uc001xei.4	+	2	764	c.262T>C	c.(262-264)Ttc>Ctc	p.F88L	JKAMP_uc001xef.4_Missense_Mutation_p.F74L|JKAMP_uc001xeh.4_Missense_Mutation_p.F68L|JKAMP_uc001xeg.4_Missense_Mutation_p.F82L|JKAMP_uc010try.2_Missense_Mutation_p.F11L|JKAMP_uc001xej.4_Missense_Mutation_p.F11L	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	Homo sapiens JNK1/MAPK8-associated membrane protein (JKAMP), transcript variant 2, mRNA.	89					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TTTACATTGGTTCTTCATTGA	0.383000														383			133		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369135	56369135	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:56369135G>A	uc002qmd.4	+	2	798	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	NLRP4_uc002qmf.3_Missense_Mutation_p.E51K|NLRP4_uc010etf.3_5'UTR	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	126							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)		CTTTGAGGAGGAAGTCAAGCA	0.468000														79			58		0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200868714	200868714	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:200868714C>T	uc001gvo.3	+	2	466	c.424C>T	c.(424-426)Ctt>Ttt	p.L142F	C1orf106_uc010ppm.2_Missense_Mutation_p.L57F	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	142										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GAGACTCTGCCTTCGGGAAGC	0.647000														33			14		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3047446	3047446	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:3047446G>A	uc022aqr.1	-	33	5776	c.5386C>T	c.(5386-5388)Ccc>Tcc	p.P1796S	CSMD1_uc011kwj.2_Missense_Mutation_p.P1189S|CSMD1_uc003wqe.3_Missense_Mutation_p.P953S|CSMD1_uc010lrg.3_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1797	Sushi 10.					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)		ACACAGCTGGGGATCGTGTCG	0.587000														11			3		0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69934154	69934154	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:69934154C>T	uc001opj.3	+	1	710	c.405C>T	c.(403-405)ctC>ctT	p.L135L	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Silent_p.L107L	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	135					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AGGGCAACCTCCTGGAGGCGG	0.692000														6			4		0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114799871	114799871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:114799871C>T	uc021pyi.1	+	4	1045	c.538C>T	c.(538-540)Ccg>Tcg	p.P180S	TCF7L2_uc001lah.3_Missense_Mutation_p.P157S|TCF7L2_uc010qro.2_Missense_Mutation_p.P157S|TCF7L2_uc001lae.4_Missense_Mutation_p.P180S|TCF7L2_uc010qrm.2_Missense_Mutation_p.P180S|TCF7L2_uc010qrn.2_Intron|TCF7L2_uc021pyg.1_5'UTR|TCF7L2_uc021pyh.1_Missense_Mutation_p.P157S|TCF7L2_uc021pyj.1_Missense_Mutation_p.P180S|TCF7L2_uc021pyk.1_Missense_Mutation_p.P157S|TCF7L2_uc021pyl.1_Missense_Mutation_p.P157S|TCF7L2_uc010qrp.2_Missense_Mutation_p.P157S|TCF7L2_uc021pym.1_Missense_Mutation_p.P157S|TCF7L2_uc021pyn.1_Missense_Mutation_p.P180S|TCF7L2_uc021pyo.1_Missense_Mutation_p.P180S|TCF7L2_uc021pyp.1_Missense_Mutation_p.P180S|TCF7L2_uc010qrq.2_Missense_Mutation_p.P157S|TCF7L2_uc001lac.4_Missense_Mutation_p.P157S|TCF7L2_uc010qrk.2_Missense_Mutation_p.P157S|TCF7L2_uc001lad.4_Missense_Mutation_p.P157S|TCF7L2_uc001lag.4_Missense_Mutation_p.P157S|TCF7L2_uc001laf.4_Missense_Mutation_p.P157S|TCF7L2_uc010qrl.2_Missense_Mutation_p.P157S|TCF7L2_uc010qrr.2_Missense_Mutation_p.P51S|TCF7L2_uc010qrs.2_Missense_Mutation_p.P51S|TCF7L2_uc010qrt.2_Missense_Mutation_p.P51S|TCF7L2_uc010qru.2_Missense_Mutation_p.P27S	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	180	Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GTCCCCATCACCGGCACACAT	0.493000			T	VTI1A	colorectal									92			58		0	0	1	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3788196	3788196	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:3788196C>T	uc010sen.1	-	5	981	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	EFCAB4B_uc001qmj.2_Missense_Mutation_p.E137K	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.	137					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			ACCTTCTCTTCATGGCGCTGG	0.557000														80			32		0	0	1	0	0
LMCD1	29995	broad.mit.edu	37	3	8590280	8590280	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:8590280C>T	uc003bqq.3	+	3	528	c.414C>T	c.(412-414)ccC>ccT	p.P138P	LMCD1_uc011atd.2_Silent_p.P65P|LMCD1_uc011ate.2_Silent_p.P26P|LMCD1_uc011atf.1_Silent_p.P65P	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	Homo sapiens LIM and cysteine-rich domains 1 (LMCD1), mRNA.	138	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AGCTCATCCCCAAGGAGAAGC	0.567000														87			80		0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124748248	124748248	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:124748248G>A	uc011bke.2	-	1	469	c.401C>T	c.(400-402)tCa>tTa	p.S134L	HEG1_uc003ehs.4_Missense_Mutation_p.S134L	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	134						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GGACACTGTTGAAAAGTCCTC	0.483000														106			61		0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116213220	116213220	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:116213220C>T	uc021pyx.1	-	12	1563	c.1464G>A	c.(1462-1464)cgG>cgA	p.R488R	ABLIM1_uc021pyw.1_Silent_p.R488R|ABLIM1_uc021pyy.1_Silent_p.R456R|ABLIM1_uc021pyz.1_Silent_p.R422R|ABLIM1_uc021pza.1_Silent_p.R428R|ABLIM1_uc021pze.1_Silent_p.R412R|ABLIM1_uc021pzf.1_Silent_p.R450R|ABLIM1_uc021pyv.1_Intron|ABLIM1_uc021pzb.1_Intron|ABLIM1_uc021pzc.1_Intron|ABLIM1_uc021pzd.1_Intron|ABLIM1_uc021pyu.1_Intron	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	488					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GAGGGGAGTTCCGGCCGCTGG	0.488000														37			40		0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94394861	94394861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:94394861G>A	uc001ybz.2	+	2	741	c.416G>A	c.(415-417)aGg>aAg	p.R139K	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Missense_Mutation_p.R77K|FAM181A_uc021saz.1_Missense_Mutation_p.R77K|FAM181A_uc010aus.2_Missense_Mutation_p.R77K|FAM181A_uc001yca.2_Missense_Mutation_p.R77K	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	139										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GACCGGCCCAGGAGGCTGCTC	0.647000														60			27		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92532816	92532817	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:92532816_92532817CC>TT	uc001pdj.4	+	8	6654_6655	c.6637_6638CC>TT	c.(6637-6639)cca>TTa	p.P2213L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2213	Cadherin 20.				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)				TGCCACCAGTCCAGAAGGCCAA	0.421000										TCGA Ovarian(4;0.039)				40			30		0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005844	25005844	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:25005844G>A	uc003grf.2	-	7	966	c.867C>T	c.(865-867)gtC>gtT	p.V289V		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	289						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CCACCACAAAGACCTGATCAT	0.463000														165			33		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140277513	140277513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:140277513C>T	uc003etn.3	+	11	2045	c.1855C>T	c.(1855-1857)Cct>Tct	p.P619S		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	619					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						CATCAGTATCCCTGAGGTAGA	0.532000										HNSCC(16;0.037)				79			30		0	0	1	0	0
TAF1C	9013	broad.mit.edu	37	16	84212933	84212933	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:84212933C>T	uc002fhn.3	-	13	2466	c.2224G>A	c.(2224-2226)Gag>Aag	p.E742K	TAF1C_uc010vnz.2_Missense_Mutation_p.E410K|TAF1C_uc002fho.3_Missense_Mutation_p.E265K|TAF1C_uc010voa.2_Missense_Mutation_p.E410K|TAF1C_uc002fhm.3_Missense_Mutation_p.E648K|TAF1C_uc010vnx.2_Missense_Mutation_p.E716K|TAF1C_uc010vny.2_Missense_Mutation_p.E333K	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.	742					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			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CTCCCGGGCTCCGAGGTCCTG	0.687000														31			6		0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5464339	5464339	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:5464339C>T	uc003jdm.4	+	12	5114	c.4892C>T	c.(4891-4893)cCt>cTt	p.P1631L		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1631	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GTGGGGCCTCCTTTGCCGCCT	0.498000														138			40		0	0	1	0	0
FAM75D5	347127	broad.mit.edu	37	9	84530474	84530474	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:84530474C>G	uc011lst.2	+	3	496	c.395C>G	c.(394-396)tCc>tGc	p.S132C						Homo sapiens family with sequence similarity 75, member D5, pseudogene (FAM75D5), non-coding RNA.																		CCCTTTGTGTCCCCTTTGGCT	0.532000														41			10		0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155528085	155528085	+	Missense_Mutation	SNP	G	C	C	rs121913087		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:155528085G>C	uc003ioj.3	-	7	1042	c.901C>G	c.(901-903)Cgc>Ggc	p.R301G	FGG_uc003iog.3_Missense_Mutation_p.R301G	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	301	Fibrinogen C-terminal.		R -> C (in Tochigi/Osaka-2/Milano-5/ Villajoyosa).|R -> H (in Bergamo-2/Essen/Haifa/Osaka-3/ Perugia/Saga/Barcelona-3/Barcelona-4).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.R301H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TATGTTAGGCGGTACTTGTCA	0.478000														64			34		0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154270981	154270981	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:154270981G>A	uc003lvx.3	-	25	4165	c.4082C>T	c.(4081-4083)tCa>tTa	p.S1361L	GEMIN5_uc011ddk.1_Missense_Mutation_p.S1360L	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	1361					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)			ATGCTTTTCTGAAAAGAGCTC	0.458000														92			61		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237777612	237777612	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:237777612C>T	uc001hyl.1	+	36	5304	c.5184C>T	c.(5182-5184)ccC>ccT	p.P1728P		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1728	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	p.T1728M(2)		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)			ACATTGTCCCCATGACGGAGG	0.557000														31			16		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767866	57767866	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:57767866G>A	uc002yan.3	+	0	1792	c.1792G>A	c.(1792-1794)Ggc>Agc	p.G598S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	598						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)					GGCCATGGCCGGCAAGGGCAG	0.647000														88			33		0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34182646	34182646	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:34182646C>T	uc021uiv.1	+	7	825	c.728C>T	c.(727-729)cCt>cTt	p.P243L	FHOD3_uc002kzr.1_Missense_Mutation_p.P243L|FHOD3_uc002kzs.1_Missense_Mutation_p.P243L|FHOD3_uc002kzt.1_Missense_Mutation_p.P243L|FHOD3_uc002kzu.1_Missense_Mutation_p.P68L|FHOD3_uc010dmz.1_5'UTR	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	243	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GGGGTCAAACCTTGGTCAAAT	0.373000														39			54		0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72081675	72081675	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:72081675G>A	uc011kej.2	-	14	1923	c.1764C>T	c.(1762-1764)ctC>ctT	p.L588L	TYW1B_uc011keh.1_Silent_p.L426L|TYW1B_uc011kei.2_Silent_p.L215L	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.	589					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GTGCTATCAGGAGGCAATTAG	0.448000														139			22		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22134220	22134220	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:22134220C>T	uc010tmd.2	+	0	924	c.924C>T	c.(922-924)ttC>ttT	p.F308F		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	308					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)		AAGTTTTTTTCACGAAATCAT	0.393000														21			7		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41072235	41072235	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:41072235G>A	uc002ony.3	+	29	6392	c.6306G>A	c.(6304-6306)gaG>gaA	p.E2102E	SPTBN4_uc002onz.3_Silent_p.E2102E|SPTBN4_uc010egx.3_Silent_p.E845E	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	2102					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)			CCTGGGAAGAGAGGTTCAGCT	0.642000														8			4		0	0	1	0	0
KLK10	5655	broad.mit.edu	37	19	51520527	51520527	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:51520527G>A	uc002pva.3	-	2	228	c.108C>T	c.(106-108)ctC>ctT	p.L36L	KLK10_uc002puy.3_Silent_p.L36L|KLK10_uc002puz.3_Silent_p.L36L	NM_001077500	NP_665895	O43240	KLK10_HUMAN	Homo sapiens kallikrein-related peptidase 10 (KLK10), transcript variant 3, mRNA.	36					cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CGTTTTGGGGGAGCAGCGCCG	0.667000											OREG0025646	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			15		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45645518	45645518	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:45645518G>A	uc003jok.3	-	1	643	c.618C>T	c.(616-618)atC>atT	p.I206I		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	206						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						GGTCCAGGATGATTTCAGAAC	0.378000														43			17		0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188216924	188216924	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:188216924A>G	uc010frt.3	-	11	1428	c.1045T>C	c.(1045-1047)Ttt>Ctt	p.F349L	CALCRL_uc002upv.4_Missense_Mutation_p.F349L	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	349						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			ATCAGCACAAATTCAATGCCA	0.428000														14			7		0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2995956	2995956	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:2995956T>C	uc010vrb.2	-	0	335	c.335A>G	c.(334-336)aAc>aGc	p.N112S		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	112					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						CAGGATGAGGTTGTCCAGGGC	0.547000														56			46		0	0	1	0	0
KRT10	3858	broad.mit.edu	37	17	38975387	38975387	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:38975387C>T	uc002hvi.3	-	6	1426	c.1400G>A	c.(1399-1401)gGa>gAa	p.G467E	TMEM99_uc021txc.1_5'UTR|TMEM99_uc002hvj.1_5'UTR|TMEM99_uc021txd.1_5'Flank	NM_000421	NP_000412	P13645	K1C10_HUMAN	Homo sapiens keratin 10 (KRT10), mRNA.	467	Gly-rich.|Tail.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				gccgaaacttccgccgccgcg	0.682000														25			13		0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22563277	22563277	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:22563277G>A	uc002wsm.3	-	1	788	c.603C>T	c.(601-603)ttC>ttT	p.F201F	FOXA2_uc002wsn.3_Silent_p.F195F	NM_021784	NP_710141	Q9Y261	FOXA2_HUMAN	Homo sapiens forkhead box A2 (FOXA2), transcript variant 1, mRNA.	195					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TCTGCCGGTAGAAGGGGAAGA	0.597000														147			48		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128660	126128660	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:126128660G>A	uc001uhe.1	+	5	1469	c.1461G>A	c.(1459-1461)aaG>aaA	p.K487K	TMEM132B_uc001uhf.1_5'UTR	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	487						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGAATGGGAAGGAAATGAAGA	0.483000														81			21		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238280757	238280757	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:238280757C>T	uc002vwl.2	-	8	4188	c.3903G>A	c.(3901-3903)cgG>cgA	p.R1301R	COL6A3_uc002vwo.2_Silent_p.R1095R|COL6A3_uc010znj.1_Silent_p.R694R|COL6A3_uc002vwq.3_Silent_p.R1095R|COL6A3_uc002vwr.3_Silent_p.R894R	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1301	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.R1301W(1)		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)		TGGGCCTCAGCCGCTGCACCG	0.617000														94			40		0	0	1	0	0
VPREB1	7441	broad.mit.edu	37	22	22599708	22599708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:22599708G>A	uc002zvx.1	+	1	423	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	abParts_uc021wml.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	Homo sapiens pre-B lymphocyte 1 (VPREB1), mRNA.	133					immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		ggagtgggaggaagaaatgga	0.577000														25			8		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114186060	114186060	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:114186060G>A	uc003ynu.3	-	3	759	c.600C>T	c.(598-600)atC>atT	p.I200I	CSMD3_uc003ynt.3_Silent_p.I160I|CSMD3_uc011lhx.2_Silent_p.I200I|CSMD3_uc010mcx.1_Silent_p.I200I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	200	Sushi 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCTGTAGCGGATCTTGTCCC	0.463000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				64			13		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22466152	22466152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:22466152C>T	uc001wcp.2	+	1	111	c.82C>T	c.(82-84)Cct>Tct	p.P28S	TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Missense_Mutation_p.P28S|TCRA_uc001wcr.1_5'UTR|TCRA_uc001wcs.1_5'UTR|TCRA_uc010ajf.1_5'UTR|TCRA_uc010tmm.2_Intron|TCRA_uc001wcq.3_Missense_Mutation_p.P28S|TCRA_uc010ajd.1_Missense_Mutation_p.P28S					Homo sapiens TRA mRNA for T cell receptor alpha chain, partial cds, allele:TRAV19*01+TRAJ53*01.																		AGAAGAGGATCCTCAGGCCTT	0.418000														31			6		0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77722995	77722995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:77722995G>A	uc001xtf.2	+	23	2559	c.2347G>A	c.(2347-2349)Ggc>Agc	p.G783S	TMEM63C_uc010asq.1_Missense_Mutation_p.G783S	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	783						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)		TGGTCTGAGGGGCTTTGCGAG	0.622000														191			79		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111789230	111789230	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:111789230C>T	uc010yxk.1	+	14	1532	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	ACOXL_uc021vmm.1_Silent_p.F289F|ACOXL_uc021vmn.1_Silent_p.F259F	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	466					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						AGGATTTTTTCCATGCCTGGA	0.458000														70			28		0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171251419	171251419	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:171251419C>T	uc009wvz.3	+	6	1266	c.1130C>T	c.(1129-1131)tCc>tTc	p.S377F	FMO1_uc010pme.2_Missense_Mutation_p.S314F|FMO1_uc001ghl.3_Missense_Mutation_p.S377F|FMO1_uc001ghm.3_Missense_Mutation_p.S377F	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	377					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)					CCCTTGGGCTCCATGATACCT	0.478000														84			17		0	0	1	0	0
ATPBD4	89978	broad.mit.edu	37	15	35742939	35742939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:35742939C>T	uc001zja.3	-	4	514	c.452G>A	c.(451-453)aGa>aAa	p.R151K		NM_080650	NP_542381	Q7L8W6	ATBD4_HUMAN	Homo sapiens ATP binding domain 4 (ATPBD4), transcript variant 1, mRNA.	151										endometrium(1)|kidney(1)|lung(9)	11		all_epithelial(112;2.11e-09)|Lung NSC(122;2.38e-08)|all_lung(180;3.65e-07)		all cancers(64;9.9e-19)|GBM - Glioblastoma multiforme(113;2.01e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)		TATCATCTCTCTGAGCAAATC	0.388000														144			56		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45132817	45132817	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:45132817C>A	uc003com.3	-	6	1976	c.1841G>T	c.(1840-1842)cGg>cTg	p.R614L		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	614						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)		CTCCTCAGCCCGGGTCCGCTG	0.607000														96			80		9.13743e-30	9.25854e-30	1	1	0
ADAMTS6	11174	broad.mit.edu	37	5	64466461	64466461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:64466461G>A	uc003jtp.3	-	23	4041	c.3227C>T	c.(3226-3228)cCc>cTc	p.P1076L	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.	1076					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)		ATTAGAAATGGGGGTACTGTC	0.498000														32			39		0	0	1	0	0
MXI1	4601	broad.mit.edu	37	10	111967831	111967831	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:111967831G>T	uc001kyy.3	+	0	469	c.265G>T	c.(265-267)Gaa>Taa	p.E89*	MXI1_uc001kyz.3_5'Flank	NM_130439	NP_569157	P50539	MXI1_HUMAN	Homo sapiens MAX interactor 1 (MXI1), transcript variant 2, mRNA.	25	Helix-loop-helix motif.				cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GATCGAGAAAGAAAACAAAAG	0.577000														34			22		1.55469e-16	1.57046e-16	1	1	0
POTEG	404785	broad.mit.edu	37	14	19553789	19553789	+	Missense_Mutation	SNP	G	A	A	rs145666754		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:19553789G>A	uc001vuz.1	+	0	425	c.373G>A	c.(373-375)Gac>Aac	p.D125N	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	125								p.D125E(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACTACGACGACAGCGCTTT	0.592000														664			56		0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45440472	45440472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:45440472C>T	uc001zus.1	+	21	2991	c.2645C>T	c.(2644-2646)tCc>tTc	p.S882F	DUOX1_uc001zut.1_Missense_Mutation_p.S882F|DUOX1_uc010bee.1_Missense_Mutation_p.S262F|DUOX1_uc001zuu.3_Missense_Mutation_p.S24F	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	882	EF-hand 2.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AACCCCAGATCCTTCATCGAG	0.602000														71			26		0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205027141	205027141	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:205027141G>A	uc001hbr.3	+	2	432	c.163G>A	c.(163-165)Gag>Aag	p.E55K	CNTN2_uc001hbq.1_5'UTR|CNTN2_uc009xbi.3_5'Flank|CNTN2_uc001hbs.3_5'Flank	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	55	Ig-like C2-type 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			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)			GTCCACGGAGGAGCAGGTGTT	0.642000														63			30		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885236	24885236	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:24885236C>T	uc001wpf.4	+	8	4599	c.4281C>T	c.(4279-4281)atC>atT	p.I1427I		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1427					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						TTCCGTTTATCTACCGAACCT	0.602000														135			56		0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162274198	162274198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:162274198C>T	uc002ubw.1	+	1	1006	c.704C>T	c.(703-705)cCt>cTt	p.P235L	TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584	Q16650	TBR1_HUMAN	Homo sapiens T-box, brain, 1 (TBR1), mRNA.	235						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CGCATGTTTCCTTTTTTAAGT	0.398000														263			96		0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151907044	151907044	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:151907044C>T	uc003qol.3	+	6	1202	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	371																	AGCTTGAAGCCCAAATATCTG	0.458000														18			5		0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50413429	50413429	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:50413429G>A	uc003daq.3	-	18	1776	c.1738C>T	c.(1738-1740)Ctg>Ttg	p.L580L	CACNA2D2_uc003dap.3_Silent_p.L580L	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	580					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			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)	TCCGCATCCAGGAAGTCCAGA	0.602000														237			74		0	0	1	0	0
OR10H5	284433	broad.mit.edu	37	19	15905563	15905563	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:15905563G>A	uc010xos.2	+	0	705	c.705G>A	c.(703-705)cgG>cgA	p.R235R		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	235					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						CTGAAGGTCGGAACAAGGCCT	0.562000														122			36		0	0	1	0	0
BC128131	0	broad.mit.edu	37	19	23159380	23159380	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:23159380C>T	uc002nqz.1	-	1	593	c.567G>A	c.(565-567)gaG>gaA	p.E189E	BC128131_uc002nqy.1_Non-coding_Transcript					Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371).																		TGTAATGTTTCTCTCCAGTAT	0.403000														45			9		0	0	1	0	0
CLEC5A	23601	broad.mit.edu	37	7	141629994	141629994	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:141629994G>A	uc003vwv.1	-	6	674	c.477C>T	c.(475-477)ttC>ttT	p.F159F	CLEC5A_uc011krm.1_Missense_Mutation_p.S135L|CLEC5A_uc003vww.1_Silent_p.F158F|CLEC5A_uc010lnq.1_Silent_p.F136F|CLEC5A_uc010lnr.1_Non-coding_Transcript	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	159	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TCGCACAGTTGAAATTCTGAT	0.393000														66			30		0	0	1	0	0
MS4A2	2206	broad.mit.edu	37	11	59863121	59863121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:59863121G>A	uc001nop.3	+	6	829	c.727G>A	c.(727-729)Gat>Aat	p.D243N	MS4A2_uc021qka.1_Missense_Mutation_p.D198N	NM_000139	NP_000130	Q01362	FCERB_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) (MS4A2), mRNA.	243					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TCCTCCCATTGATTTATAAGA	0.423000														29			16		0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73843971	73843971	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:73843971G>A	uc001ouu.2	-	6	1362	c.1135C>T	c.(1135-1137)Cac>Tac	p.H379Y	C2CD3_uc001ouv.2_Missense_Mutation_p.H379Y	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	379						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)					GGGAGGAGGTGATCTTCAATG	0.408000														49			27		0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133333811	133333811	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:133333811G>A	uc010mza.3	+	4	934	c.426G>A	c.(424-426)agG>agA	p.R142R	ASS1_uc004bzm.3_Silent_p.R66R|ASS1_uc004bzn.3_Silent_p.R66R	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	66					arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	ATGTCAGCAGGGAGTTTGTGG	0.607000														103			32		0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133764044	133764044	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:133764044C>T	uc003ytn.3	-	3	530	c.301G>A	c.(301-303)Gag>Aag	p.E101K	TMEM71_uc003yto.3_Missense_Mutation_p.E101K	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	Homo sapiens transmembrane protein 71 (TMEM71), transcript variant 1, mRNA.	101						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	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)			ACTAAGTTCTCCTTATACATA	0.383000														87			42		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39818781	39818781	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:39818781C>T	uc021olw.1	+	7	6622	c.6622C>T	c.(6622-6624)Ctt>Ttt	p.L2208F	MACF1_uc021ols.1_Missense_Mutation_p.L1706F|MACF1_uc001cdc.2_Missense_Mutation_p.L1706F|MACF1_uc021olt.1_Missense_Mutation_p.L1706F|MACF1_uc001cda.1_Missense_Mutation_p.L1614F|MACF1_uc001cdb.1_Missense_Mutation_p.L793F	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	3773					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)			GCTGACCAACCTTCCAGGAAT	0.512000														52			15		0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307647	39307647	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:39307647G>A	uc021wwc.1	-	1	490	c.450C>T	c.(448-450)ttC>ttT	p.F150F	CX3CR1_uc021wwa.1_Silent_p.F118F|CX3CR1_uc021wwb.1_Silent_p.F118F|CX3CR1_uc003cjl.3_Silent_p.F118F|CX3CR1_uc021wwd.1_Silent_p.F118F	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	118					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	p.S150S(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CGGTGATGAAGAATATGCTTC	0.498000														142			99		0	0	1	0	0
CCDC148	130940	broad.mit.edu	37	2	159033041	159033041	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:159033041C>T	uc002tzq.3	-	12	1935	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	CCDC148_uc002tzr.3_Missense_Mutation_p.E389K|CCDC148_uc010foh.3_Missense_Mutation_p.E254K|LOC554201_uc021vro.1_Intron	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	541										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ACCTGCTGTTCATTGTATGTA	0.348000														20			6		0	0	1	0	0
EPB41	2035	broad.mit.edu	37	1	29379626	29379626	+	Silent	SNP	C	T	T	rs145888614	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:29379626C>T	uc001brm.2	+	11	1774	c.1647C>T	c.(1645-1647)gtC>gtT	p.V549V	EPB41_uc001brg.2_Silent_p.V340V|EPB41_uc001brh.2_Silent_p.V340V|EPB41_uc001brj.2_Silent_p.V340V|EPB41_uc001bri.2_Silent_p.V514V|EPB41_uc009vtk.2_Silent_p.V513V|EPB41_uc001brk.3_Silent_p.V549V|EPB41_uc001brl.2_Silent_p.V549V|EPB41_uc021okg.1_Silent_p.V549V|EPB41_uc009vtm.2_Silent_p.V182V|EPB41_uc009vtl.2_Silent_p.V340V	NM_001166005	NP_001159477	P11171	41_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA.	549	Hydrophilic.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	Golgi apparatus|extrinsic to membrane|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	p.V340V(1)|p.V549V(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CAGCAGCTGTCGATTCGGCAG	0.483000														50			17		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34645943	34645943	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:34645943G>A	uc010ucc.2	+	4	1327	c.945G>A	c.(943-945)atG>atA	p.M315I	C15orf55_uc010ucd.2_Missense_Mutation_p.M305I|C15orf55_uc001zif.3_Missense_Mutation_p.M287I	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	287						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)		GCAGGTTCATGGAGTTTGAGG	0.517000			T	"""BRD3, BRD4"""	lethal midline carcinoma									94			25		0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60903642	60903642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:60903642C>T	uc001xez.4	-	17	1795	c.1685G>A	c.(1684-1686)gGt>gAt	p.G562D	C14orf39_uc010apo.3_Missense_Mutation_p.G273D	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	562								p.Q561E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TGAATTTTGACCCTGTCCAAA	0.318000														176			74		0	0	1	0	0
GPR78	27201	broad.mit.edu	37	4	8582718	8582718	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:8582718C>T	uc003glk.3	+	0	502	c.9C>T	c.(7-9)ccC>ccT	p.P3P	GPR78_uc021xlj.1_Intron|CPZ_uc003gll.3_Non-coding_Transcript	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	3					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CCATGGGCCCCGGCGAGGCGC	0.682000														20			9		0	0	1	0	0
HTR3D	200909	broad.mit.edu	37	3	183755932	183755932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:183755932C>T	uc011bqv.2	+	5	784	c.784C>T	c.(784-786)Cca>Tca	p.P262S	HTR3D_uc003fmj.3_Missense_Mutation_p.P89S|HTR3D_uc011bqu.2_Missense_Mutation_p.P214S|HTR3D_uc010hxp.3_Missense_Mutation_p.P43S	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3 family member D (HTR3D), transcript variant 3, mRNA.	262						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity	p.L261L(1)		large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAATTGTGCCCCATTCAAGAT	0.522000														89			47		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62703961	62703962	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:62703961_62703962GG>AA	uc001dah.4	-	9	3352_3353	c.2975_2976CC>TT	c.(2974-2976)tcc>tTT	p.S992F	KANK4_uc001dai.4_Missense_Mutation_p.S364F|KANK4_uc001daf.4_Missense_Mutation_p.S130F|KANK4_uc001dag.4_Missense_Mutation_p.S348F	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	992										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						ACAGCCCCAGGGACCTGCCCTG	0.609000														42			20		0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169701077	169701077	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:169701077C>A	uc001ggm.4	-	3	585	c.428G>T	c.(427-429)tGt>tTt	p.C143F	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	143	EGF-like.				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)					TGTATTGGTACAGGCAGCTAC	0.443000														43			9		2.17888e-05	2.18954e-05	1	1	0
PSPC1	55269	broad.mit.edu	37	13	20279916	20279916	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:20279916C>T	uc021rgx.1	-	8	1409	c.1272G>A	c.(1270-1272)atG>atA	p.M424I		NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN	Homo sapiens paraspeckle component 1 (PSPC1), transcript variant 1, mRNA.	424	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TGTTCATATTCATACCCATCA	0.483000														130			29		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4511331	4511331	+	Nonsense_Mutation	SNP	G	A	A	rs71263980		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:4511331G>A	uc002mar.1	-	2	2599	c.2599C>T	c.(2599-2601)Cag>Tag	p.Q867*	PLIN4_uc010dub.1_5'UTR	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	867	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGGCCCCCCTGGACGGCCCCT	0.572000														185			42		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48738928	48738928	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:48738928G>A	uc001zwx.2	-	46	6158	c.5763C>T	c.(5761-5763)atC>atT	p.I1921I	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1921	EGF-like 32; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGTGAGAAAGGATGAAACCAT	0.408000														44			22		0	0	1	0	0
HEMGN	55363	broad.mit.edu	37	9	100693425	100693425	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:100693425C>T	uc004axy.3	-	2	360	c.252G>A	c.(250-252)ttG>ttA	p.L84L	HEMGN_uc004axz.3_Silent_p.L84L	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.	84	Necessary for nuclear localization.				cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GCTCCACCTTCAATTCTGTGT	0.423000														131			47		0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78353448	78353448	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:78353448C>T	uc001xui.3	+	4	537	c.438C>T	c.(436-438)ttC>ttT	p.F146F	ADCK1_uc010tvo.1_Intron|ADCK1_uc001xuj.3_Silent_p.F78F|ADCK1_uc001xuk.1_Silent_p.F20F	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	153						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)		ATGATTTGTTCCAGAGCTTCG	0.592000														196			73		0	0	1	0	0
CLUL1	27098	broad.mit.edu	37	18	633399	633399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:633399G>A	uc010wys.2	+	7	1348	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	CLUL1_uc002kkp.3_Missense_Mutation_p.E320K|CLUL1_uc002kkq.3_Missense_Mutation_p.E320K	NM_199167	NP_954636	Q15846	CLUL1_HUMAN	Homo sapiens clusterin-like 1 (retinal) (CLUL1), transcript variant 2, mRNA.	320					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						CAAATTTCATGAAAAATGCCA	0.373000														22			13		0	0	1	0	0
VPS37B	79720	broad.mit.edu	37	12	123351856	123351856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:123351856G>A	uc001udl.3	-	3	768	c.665C>T	c.(664-666)cCg>cTg	p.P222L		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog B (S. cerevisiae) (VPS37B), mRNA.	222	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		CGCAGTAAACGGGGTGGCTAA	0.706000														25			17		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29647278	29647278	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:29647278G>A	uc001bru.3	+	26	3928	c.3799G>A	c.(3799-3801)Gat>Aat	p.D1267N	PTPRU_uc009vtq.3_Missense_Mutation_p.D1263N|PTPRU_uc009vtr.3_Missense_Mutation_p.D1254N|PTPRU_uc001brw.3_Missense_Mutation_p.D1257N|PTPRU_uc001brx.3_5'UTR	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	1267	Tyrosine-protein phosphatase 2.				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)		GCTGGTCTACGATTACGGGTG	0.642000														88			40		0	0	1	0	0
TRMT2B	79979	broad.mit.edu	37	X	100291999	100291999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:100291999G>A	uc004egt.3	-	5	915	c.502C>T	c.(502-504)Cca>Tca	p.P168S	TRMT2B_uc004egu.3_Missense_Mutation_p.P49S|TRMT2B_uc004egr.3_Missense_Mutation_p.P168S|TRMT2B_uc004egv.3_Missense_Mutation_p.P123S|TRMT2B_uc004egq.3_Missense_Mutation_p.P168S|TRMT2B_uc004egs.3_Missense_Mutation_p.P168S	NM_001167970	NP_079193	Q96GJ1	TRM2_HUMAN	Homo sapiens TRM2 tRNA methyltransferase 2 homolog B (S. cerevisiae) (TRMT2B), transcript variant 2, mRNA.	168							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						ACAGTCTTTGGATTGCCATCT	0.498000														73			55		0	0	1	0	0
RFPL2	10739	broad.mit.edu	37	22	32587002	32587002	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:32587002G>A	uc003amg.3	-	4	1830	c.894C>T	c.(892-894)ttC>ttT	p.F298F	RFPL2_uc003ame.3_Silent_p.F237F|RFPL2_uc003amf.3_Silent_p.F208F|RFPL2_uc003amh.3_Silent_p.F208F	NM_001098527	NP_001153018	O75678	RFPL2_HUMAN	Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA.	298	B30.2/SPRY.						zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TGCGGTCTACGAAGAGGAAAG	0.512000														49			23		0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57089803	57089803	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:57089803T>C	uc002iwy.4	-	21	3025	c.2581A>G	c.(2581-2583)Aat>Gat	p.N861D	TRIM37_uc002iwz.4_Missense_Mutation_p.N861D|TRIM37_uc002ixa.4_Missense_Mutation_p.N739D|TRIM37_uc010woc.2_Missense_Mutation_p.N827D	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	861						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)					CCTTTAGCATTAGCCCTCAAA	0.383000									Mulibrey Nanism					49			13		0	0	1	0	0
CLDN16	10686	broad.mit.edu	37	3	190106125	190106125	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:190106125G>A	uc003fsi.3	+	0	465	c.217G>A	c.(217-219)Gat>Aat	p.D73N	CLDN16_uc010hze.3_Missense_Mutation_p.D73N	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	Homo sapiens claudin 16 (CLDN16), mRNA.	73					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity	p.D73N(2)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		CACAATGAGGGATCTTCTTCA	0.517000														94			66		0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120057061	120057061	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:120057061C>T	uc001ehv.1	+	3	1060	c.915C>T	c.(913-915)ctC>ctT	p.L305L		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	305					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	GCTTCCTACTCAGGCCAATTT	0.478000														139			130		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112751951	112751951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:112751951G>A	uc002thk.1	+	8	1542	c.1420G>A	c.(1420-1422)Gat>Aat	p.D474N	MERTK_uc002thl.1_Missense_Mutation_p.D298N	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	474	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GCCCTTCAGTGATCCAGTGAA	0.527000														110			55		0	0	1	0	0
TRAT1	50852	broad.mit.edu	37	3	108572476	108572476	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:108572476G>A	uc003dxi.1	+	5	457	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	TRAT1_uc010hpx.1_Missense_Mutation_p.E68K	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	105					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						GGCAACCAATGAAACACAGAT	0.403000														89			58		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507797	155507797	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:155507797C>T	uc003iod.1	-	4	842	c.784G>A	c.(784-786)Gag>Aag	p.E262K	FGA_uc003ioe.1_Missense_Mutation_p.E262K|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	262					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCAGGTCTCTCTAACTCCATT	0.517000														109			19		0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52569368	52569368	+	Silent	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:52569368T>C	uc010ydh.1	-	6	2227	c.1767A>G	c.(1765-1767)agA>agG	p.R589R	ZNF841_uc002pyl.1_Silent_p.R473R	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	Homo sapiens zinc finger protein 841 (ZNF841), mRNA.	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						CGGTATGCATTCTTTGATGAC	0.413000														64			56		0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124094426	124094426	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:124094426C>T	uc001lgc.1	+	13	1446	c.1195C>T	c.(1195-1197)Cta>Tta	p.L399L	BTBD16_uc001lgd.1_Silent_p.L398L	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	399										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AACGATTGCTCTATATGGATT	0.363000														89			63		0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185975698	185975698	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:185975698G>A	uc003fqa.3	-	16	1992	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	DGKG_uc003fqb.3_Silent_p.F446F|DGKG_uc003fqc.3_Silent_p.F460F|DGKG_uc011brx.2_Silent_p.F426F	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	485	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			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CCAAAACACGGAAGTCTGGAG	0.463000														136			86		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393517	164393517	+	Missense_Mutation	SNP	G	A	A	rs145423814		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:164393517G>A	uc003iqp.4	-	0	1531	c.1370C>T	c.(1369-1371)tCg>tTg	p.S457L		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	457						cytoplasm	metal ion binding|transketolase activity	p.S457L(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ATGCTCTGTCGAGATGGCATC	0.463000														173			34		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13871743	13871743	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13871743G>A	uc003jfd.2	-	22	3570	c.3528C>T	c.(3526-3528)ttC>ttT	p.F1176F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1176	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L1174fs*8(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)					CTAGGTTTTGGAAATAGAGAA	0.383000									Kartagener syndrome					39			14		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414780	105414780	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:105414780G>A	uc010axc.1	-	6	7128	c.7008C>T	c.(7006-7008)tcC>tcT	p.S2336S	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.S2236S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2336						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)			AGGCCTCGATGGACTTGCCAA	0.582000														460			136		0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46976664	46976664	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:46976664G>A	uc001cpx.3	+	2	421	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	DMBX1_uc001cpw.3_Missense_Mutation_p.E131K	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	136	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CCTGCAGAAGGAACAGCTCCA	0.627000														78			35		0	0	1	0	0
LPL	4023	broad.mit.edu	37	8	19816795	19816795	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:19816795A>C	uc003wzk.4	+	6	1413	c.1043A>C	c.(1042-1044)cAt>cCt	p.H348P		NM_000237	NP_000228	P06858	LIPL_HUMAN	Homo sapiens lipoprotein lipase (LPL), mRNA.	348	Heparin-binding (By similarity).|PLAT.				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	GTAAAGATTCATTTTTCTGGG	0.423000														26			15		0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123508613	123508613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:123508613G>A	uc003vlc.3	+	2	924	c.286G>A	c.(286-288)Gga>Aga	p.G96R	HYAL4_uc011knz.2_Missense_Mutation_p.G96R	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	96					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						CAACAGATTGGGATACTATCC	0.398000														90			38		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018572	161018572	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:161018572C>T	uc001fxl.3	-	11	2585	c.2239G>A	c.(2239-2241)Gaa>Aaa	p.E747K	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Intron|ARHGAP30_uc001fxm.3_Missense_Mutation_p.E593K|ARHGAP30_uc009wtx.3_Missense_Mutation_p.E420K	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	747	Glu-rich.				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)			ATTTCTTTTTCCTTCTCATCT	0.488000														500			149		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20569199	20569199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:20569199G>A	uc003gpr.1	+	27	3113	c.2909G>A	c.(2908-2910)gGa>gAa	p.G970E	SLIT2_uc003gps.1_Missense_Mutation_p.G962E	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	970	EGF-like 2.				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						AAACATGGAGGAACTTGCCAC	0.443000														28			6		0	0	1	0	0
TEAD4	7004	broad.mit.edu	37	12	3121375	3121375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:3121375C>T	uc010sej.2	+	4	623	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	TEAD4_uc010sek.2_Missense_Mutation_p.R111C|TEAD4_uc001qln.3_5'UTR	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.	111					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			TCGCAAAGCTCGCGAGATCCA	0.607000														51			20		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660215	77660215	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:77660215G>T	uc011cbx.2	+	4	1842	c.889G>T	c.(889-891)Gaa>Taa	p.E297*	SHROOM3_uc011cbz.1_Nonsense_Mutation_p.E121*|SHROOM3_uc003hkf.1_Nonsense_Mutation_p.E172*|SHROOM3_uc003hkg.3_Nonsense_Mutation_p.E75*	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	297					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGGCCTCCTCGAAGGGATGAG	0.557000														92			17		3.32936e-07	3.34974e-07	1	1	0
STAM2	10254	broad.mit.edu	37	2	153003815	153003815	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:153003815G>A	uc002tyc.4	-	4	658	c.308C>T	c.(307-309)cCt>cTt	p.P103L	STAM2_uc010foa.1_Missense_Mutation_p.P103L|STAM2_uc002tyd.3_Missense_Mutation_p.P103L	NM_005843	NP_005834	O75886	STAM2_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 (STAM2), mRNA.	103	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		ACATACTTTAGGATGTGCCTT	0.308000														74			26		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38691148	38691148	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:38691148G>A	uc021yzh.1	+	2	535	c.426G>A	c.(424-426)ctG>ctA	p.L142L	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						GCCGAAGACTGAAAATTGACC	0.338000														127			55		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22539320	22539320	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:22539320G>A	uc001wcy.3	+	1	227	c.216G>A	c.(214-216)tgG>tgA	p.W72*	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpq.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 22, partial cds, clone: SEB 209.																		AAAACCCTTGGGGACAGCTCA	0.483000														41			29		0	0	1	0	0
NKD1	85407	broad.mit.edu	37	16	50667135	50667136	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:50667135_50667136CC>TT	uc002egg.2	+	9	1080_1081	c.856_857CC>TT	c.(856-858)ccc>TTc	p.P286F		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	286					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GTCAGAACTGCCCCCCCGCACC	0.599000														115			23		0	0	1	0	0
TADA3	10474	broad.mit.edu	37	3	9831435	9831435	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:9831435G>A	uc003bsx.1	-	2	968	c.420C>T	c.(418-420)atC>atT	p.I140I	TADA3_uc010hcn.1_Silent_p.I140I|TADA3_uc003bsy.3_Silent_p.I140I|TTLL3_uc003btb.2_5'Flank|TTLL3_uc003bta.2_5'Flank|TTLL3_uc003bsz.2_5'Flank|TTLL3_uc003btd.4_5'Flank|TTLL3_uc003btc.2_5'Flank	NM_006354	NP_006345	O75528	TADA3_HUMAN	Homo sapiens transcriptional adaptor 3 (TADA3), transcript variant 1, mRNA.	140					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						GTGGCACGTCGATAGGGTCAT	0.572000														329			92		0	0	1	0	0
CXCL13	10563	broad.mit.edu	37	4	78528937	78528937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:78528937G>A	uc003hkr.3	+	2	223	c.145G>A	c.(145-147)Gat>Aat	p.D49N		NM_006419	NP_006410	O43927	CXL13_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 13 (CXCL13), mRNA.	49					B cell chemotaxis|activation of Rap GTPase activity|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of T cell chemotaxis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|regulation of angiogenesis|regulation of humoral immune response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|chemokine activity|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity			large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						ACGCTTCATTGATCGAATTCA	0.388000														81			34		0	0	1	0	0
TTLL10	254173	broad.mit.edu	37	1	1115637	1115637	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:1115637C>T	uc001acy.2	+	5	574	c.423C>T	c.(421-423)ctC>ctT	p.L141L	AK128833_uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Silent_p.L141L|TTLL10_uc001acz.2_Silent_p.L68L	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	141					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)		TGGAGGGGCTCCTGCTGGGGG	0.697000														20			4		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346802	48346802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:48346802C>T	uc010rhv.2	+	0	310	c.310C>T	c.(310-312)Cct>Tct	p.P104S		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	77					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						TTCTATGGCTCCTAAACTCAT	0.463000														190			46		0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44254128	44254128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:44254128G>A	uc003oxi.2	-	2	575	c.419C>T	c.(418-420)cCc>cTc	p.P140L	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	140										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTGGCACACGGGCCAGCGATG	0.597000														139			49		0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564245	140564245	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140564245C>T	uc003liv.3	+	0	3266	c.2111C>T	c.(2110-2112)tCg>tTg	p.S704L	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	704					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)			TTCCTCTTTTCGGTGCTCCTG	0.697000														165			108		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821663	72821663	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:72821663G>A	uc002fck.3	-	9	11185	c.10512C>T	c.(10510-10512)gtC>gtT	p.V3504V	AK021563_uc002fcj.1_Non-coding_Transcript|ZFHX3_uc002fcl.3_Silent_p.V2590V	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3504					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgGTGGGGACGTGAAGCA	0.736000														56			19		0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143028384	143028384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:143028384G>A	uc003wcr.1	+	8	1126	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	CLCN1_uc011ktc.1_Missense_Mutation_p.E9K	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	347					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)					TGACCTGAAGGAACTACCAGC	0.517000														104			51		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72166731	72166731	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:72166731C>T	uc002fcc.4	-	9	1535	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	PMFBP1_uc002fcd.3_Missense_Mutation_p.E455K|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.E310K	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	455										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)				CACTCCGCCTCCTTGGACTTG	0.577000														156			34		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45725734	45725734	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:45725734C>T	uc003tne.4	+	12	2265	c.2247C>T	c.(2245-2247)tcC>tcT	p.S749S		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	749					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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GGGTGTCCTCCTTGCCAAAAA	0.602000														90			48		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87179492	87179492	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:87179492C>T	uc003uiz.2	-	12	1838	c.1345G>A	c.(1345-1347)Ggg>Agg	p.G449R	ABCB1_uc011khc.2_Missense_Mutation_p.G385R	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	449	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTCACCATCCCCTCTGTGGGG	0.527000														63			24		0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	18023706	18023706	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:18023706G>A	uc001ban.3	+	28	3830	c.3671G>A	c.(3670-3672)cGg>cAg	p.R1224Q	ARHGEF10L_uc001bao.3_Missense_Mutation_p.R1185Q|ARHGEF10L_uc001bap.3_Missense_Mutation_p.R1180Q|ARHGEF10L_uc001baq.3_Missense_Mutation_p.R985Q|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.R997Q|ARHGEF10L_uc001bar.3_Missense_Mutation_p.R927Q|ARHGEF10L_uc009vpf.3_Non-coding_Transcript|ARHGEF10L_uc001bas.3_Missense_Mutation_p.R248Q	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	1224					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		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;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GTGCGCAGCCGGCCCTGCGCC	0.682000														57			25		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65390543	65390543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:65390543G>A	uc011moz.2	+	1	430	c.293G>A	c.(292-294)aGa>aAa	p.R98K	HEPH_uc004dwn.3_Missense_Mutation_p.R47K|HEPH_uc004dwo.3_Intron|HEPH_uc010nkr.3_Missense_Mutation_p.R47K|HEPH_uc011mpa.2_Missense_Mutation_p.R47K	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	44	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						CCCAAGGGAAGAAATGTCATC	0.498000														11			11		0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26483540	26483540	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:26483540C>A	uc003gse.1	-	4	1160	c.1007G>T	c.(1006-1008)cGg>cTg	p.R336L		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	336					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GTCGTAGGCCCGCCAGGCGTT	0.607000														136			7		1	1	1	1	0
PRKAA2	5563	broad.mit.edu	37	1	57170073	57170074	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:57170073_57170074CC>TT	uc001cyk.4	+	6	1289_1290	c.1218_1219CC>TT	c.(1216-1221)atccga>atTTga	p.R407*		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	407			R -> Q (in a gastric adenocarcinoma sample; somatic mutation).		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	p.R407Q(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						ATCTTGGAATCCGAAGTCAGAG	0.411000														95			33		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177249596	177249596	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:177249596G>A	uc001glf.3	+	7	1596	c.1284G>A	c.(1282-1284)ggG>ggA	p.G428G	FAM5B_uc001glg.3_Silent_p.G323G	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	428						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						TCTACTGTGGGGAAAGCACCT	0.542000														100			81		0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23356988	23356988	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:23356988C>T	uc001bgi.2	+	1	527	c.378C>T	c.(376-378)agC>agT	p.S126S	KDM1A_uc001bgj.2_Silent_p.S126S	NM_015013	NP_055828	O60341	KDM1A_HUMAN	Homo sapiens lysine (K)-specific demethylase 1A (KDM1A), transcript variant 2, mRNA.	126					blood coagulation|muscle cell development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	MyoD binding|androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H3-dimethyl-K4 specific)|ligand-dependent nuclear receptor transcription coactivator activity|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGGATGAAAGCTTGGCCAACC	0.438000														51			22		0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725661	55725661	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:55725661C>T	uc010spj.2	+	0	177	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGTATTTCTTCCTCCGGAACT	0.383000														127			37		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25404622	25404622	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:25404622G>A	uc001upr.3	+	17	2287	c.2246_splice	c.e17-1	p.G749_splice	RNF17_uc010tdd.1_Splice_Site_p.G608_splice|RNF17_uc010tde.2_Splice_Site_p.G749_splice|RNF17_uc010aab.3_Splice_Site|RNF17_uc001ups.3_Splice_Site_p.G688_splice|RNF17_uc010aac.3_Splice_Site	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	749	Tudor 1.				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)		ATTTTTCAAGGATTGCCTGGA	0.303000														64			36		0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36707402	36707402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:36707402C>T	uc002hqd.3	-	14	3176	c.2951G>A	c.(2950-2952)aGg>aAg	p.R984K	SRCIN1_uc002hqf.1_Missense_Mutation_p.R856K|SRCIN1_uc002hqe.2_Missense_Mutation_p.R838K	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	856					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TGAGCCCCTCCTCCCACTGGG	0.697000														28			12		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238280629	238280629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:238280629G>A	uc002vwl.2	-	8	4316	c.4031C>T	c.(4030-4032)tCg>tTg	p.S1344L	COL6A3_uc002vwo.2_Missense_Mutation_p.S1138L|COL6A3_uc010znj.1_Missense_Mutation_p.S737L|COL6A3_uc002vwq.3_Missense_Mutation_p.S1138L|COL6A3_uc002vwr.3_Missense_Mutation_p.S937L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1344	Nonhelical region.|VWFA 7.				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)		CTTTCCAGACGAGATGAGGAC	0.612000														49			33		0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72945471	72945471	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:72945471A>C	uc010wrr.2	+	6	1751	c.1751A>C	c.(1750-1752)cAc>cCc	p.H584P	OTOP3_uc010wrq.2_Missense_Mutation_p.H566P	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	584						integral to membrane|intracellular	zinc ion binding	p.M583I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					TACCGCATGCACTCTGTGGGA	0.602000														109			29		0	0	1	0	0
PPM1E	22843	broad.mit.edu	37	17	57033120	57033120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:57033120G>A	uc002iwx.3	+	1	702	c.575G>A	c.(574-576)gGg>gAg	p.G192E	PPM1E_uc010ddd.3_Missense_Mutation_p.G22R	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA.	201					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.G192G(1)		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)			GGCACAGAAGGGACTGTGGGT	0.383000														77			33		0	0	1	0	0
GUSB	2990	broad.mit.edu	37	7	65444845	65444845	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:65444845C>T	uc003tun.3	-	2	581	c.450G>A	c.(448-450)gaG>gaA	p.E150E	GUSB_uc011kdt.2_Silent_p.E150E|GUSB_uc010kzw.2_Intron	NM_000181	NP_000172	P08236	BGLR_HUMAN	Homo sapiens glucuronidase, beta (GUSB), mRNA.	150			E -> K (in MPS7).		glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TGATGTCGGCCTCGAAGGGGA	0.642000														23			25		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121758579	121758579	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:121758579G>A	uc003ksw.1	+	3	353	c.147G>A	c.(145-147)tgG>tgA	p.W49*	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Nonsense_Mutation_p.W49*|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Nonsense_Mutation_p.W96*|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Nonsense_Mutation_p.W49*	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	49					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.W96*(2)|p.W49*(2)		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)		GCTCTAGCTGGAATTGTGGCA	0.413000														36			17		0	0	1	0	0
VWC2L	402117	broad.mit.edu	37	2	215440493	215440493	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:215440493G>A	uc002vet.2	+	3	748	c.618G>A	c.(616-618)tgG>tgA	p.W206*	VWC2L_uc010zjl.1_3'UTR	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	206						extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						GGGACTGGTGGAAGCCTGCTC	0.478000														109			41		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62025267	62025267	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:62025267C>T	uc002jds.1	-	16	3378	c.3301G>A	c.(3301-3303)Gac>Aac	p.D1101N		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1101					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ATGAGGAAGTCGAGCCAGCAC	0.587000														63			17		0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24529923	24529923	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:24529923C>T	uc001wlj.2	+	24	2305	c.2148C>T	c.(2146-2148)ctC>ctT	p.L716L	LRRC16B_uc001wlk.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	716										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		ATGAGCTACTCTACGCTCGGG	0.627000														48			17		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176493	140176493	+	Silent	SNP	C	T	T	rs140366950		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140176493C>T	uc003lhd.2	+	0	2050	c.1944C>T	c.(1942-1944)ctC>ctT	p.L648L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.L648L|PCDHAC2_uc011czy.2_Silent_p.L648L	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	659	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)			ACCGCCTACTCGTGCTGGTGA	0.652000														79			46		0	0	1	0	0
AV2S1A1	0	broad.mit.edu	37	14	22356519	22356519	+	Silent	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:22356519A>G	uc021rph.1	+	1	282	c.180A>G	c.(178-180)caA>caG	p.Q60Q	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Silent_p.Q60Q|AV2S1A1_uc021rpi.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 12, partial cds, clone: SEB 117-2.																		GGTACAGACAATATTCTGGGA	0.468000														90			42		0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995558	19995558	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:19995558G>A	uc002ktv.1	-	0	2321	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	739	Pro-rich.					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)					GGGCTGGGGGGAAAAATGCAG	0.498000														27			25		0	0	1	0	0
MARCH7	64844	broad.mit.edu	37	2	160585558	160585558	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:160585558C>T	uc002uax.3	+	1	147	c.25C>T	c.(25-27)Cca>Tca	p.P9S	MARCH7_uc010foq.3_Missense_Mutation_p.P9S|MARCH7_uc010zcn.2_Missense_Mutation_p.P9S	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 7 (MARCH7), mRNA.	9							ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TTCAAGGATTCCAAGAAGAAT	0.343000														51			25		0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79954519	79954519	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:79954519C>T	uc002kcy.3	+	6	827	c.730C>T	c.(730-732)Cct>Tct	p.P244S	ASPSCR1_uc002kcx.3_Missense_Mutation_p.P244S|ASPSCR1_uc021ufj.1_Missense_Mutation_p.P167S|ASPSCR1_uc002kda.3_Missense_Mutation_p.P167S|ASPSCR1_uc002kdb.1_Missense_Mutation_p.P167S	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	244							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCCCTTTGTTCCTTTCTCGGG	0.652000			T	TFE3	alveolar soft part sarcoma									68			30		0	0	1	0	0
FAM168B	130074	broad.mit.edu	37	2	131829478	131829478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:131829478G>A	uc002tsd.3	-	2	333	c.104C>T	c.(103-105)cCt>cTt	p.P35L		NM_001009993	NP_001009993	A1KXE4	F168B_HUMAN	Homo sapiens family with sequence similarity 168, member B (FAM168B), mRNA.	35										endometrium(3)|lung(2)	5						AGAATAGGCAGGAGCTGCTGC	0.463000														113			39		0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151599328	151599328	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:151599328G>A	uc003ezf.2	+	2	1102	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	333						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TTCATTCAGAGAAAAGTGAGG	0.413000														55			33		0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14650954	14650954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:14650954C>T	uc001rbw.3	+	14	3918	c.3760C>T	c.(3760-3762)Cct>Tct	p.P1254S	ATF7IP_uc001rbx.3_Missense_Mutation_p.P1253S|ATF7IP_uc001rby.4_Missense_Mutation_p.P1254S|ATF7IP_uc001rca.3_Missense_Mutation_p.P1254S	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	1254	Fibronectin type-III.|Interaction with MBD1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						ACGTTTTGGGCCTTTCTGTGA	0.433000														240			57		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104044340	104044340	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:104044340G>A	uc001tjw.3	+	10	1427	c.1241G>A	c.(1240-1242)gGa>gAa	p.G414E		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	414	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACAGACAAGGGACTGAAAGGA	0.418000														56			28		0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230660029	230660029	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:230660029G>A	uc002vpx.1	-	25	3862	c.3753C>T	c.(3751-3753)ccC>ccT	p.P1251P	TRIP12_uc021vxw.1_Silent_p.P1236P|TRIP12_uc002vpy.1_Silent_p.P933P|TRIP12_uc002vpw.1_Silent_p.P1203P	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1203					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTCTTCCAATGGGCTCTTCTC	0.393000														52			23		0	0	1	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013462	142013462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:142013462C>T	uc003vxg.3	+	1	346	c.317C>T	c.(316-318)gCc>gTc	p.A106V	TRBV2_uc011kro.1_Intron|TRBV4-1_uc022ana.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		GAAGACTCAGCCCTGTATCTC	0.572000														156			45		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779265	36779265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:36779265C>T	uc003cgi.2	-	1	1377	c.886G>A	c.(886-888)Gag>Aag	p.E296K		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	296						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						TTCTCTGCCTCCTTCTCTTCT	0.567000														196			142		0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158817557	158817557	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:158817557G>A	uc001fsz.1	+	5	1227	c.1027G>A	c.(1027-1029)Gat>Aat	p.D343N		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	343	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.D343Y(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)					TGAAATACAGGATAATACAGG	0.373000														65			48		0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839200	15839200	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:15839200C>T	uc002nbm.2	+	0	367	c.347C>T	c.(346-348)aCc>aTc	p.T116I		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TTCCTGCTCACCGTCATGGGC	0.652000														125			30		0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231254654	231254654	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:231254654G>A	uc010fxm.1	+	10	971	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	SP140L_uc010fxo.1_Intron	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	294	SAND.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GCACAAAGATGAAACTGTGGA	0.433000														44			19		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111138100	111138100	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:111138100C>G	uc001vqx.3	+	33	3413	c.3124C>G	c.(3124-3126)Ccc>Gcc	p.P1042A		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1042	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CATCGGAGTCCCCGGCATCCC	0.617000														59			73		0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461387	5461387	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:5461387C>T	uc003jdm.4	+	12	2162	c.1940C>T	c.(1939-1941)tCt>tTt	p.S647F		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	647										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AATCCCCAGTCTTCTTCTGGG	0.393000														104			37		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640452	179640452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179640452C>T	uc021vsy.1	-	27	6364	c.6139G>A	c.(6139-6141)Gaa>Aaa	p.E2047K	TTN_uc021vsz.1_Missense_Mutation_p.E2001K|TTN_uc021vta.1_Missense_Mutation_p.E2001K|TTN_uc021vtb.1_Missense_Mutation_p.E2001K|TTN_uc002unb.2_Missense_Mutation_p.E2047K|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2047							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G2046R(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)			TTTTCCTCTTCAGTTAACTCT	0.423000														90			34		0	0	1	0	0
EMCN	51705	broad.mit.edu	37	4	101386648	101386648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:101386648G>A	uc003hvr.3	-	3	487	c.308C>T	c.(307-309)tCa>tTa	p.S103L	EMCN_uc011cel.2_Missense_Mutation_p.S103L|EMCN_uc011cem.2_Missense_Mutation_p.S103L	NM_016242	NP_057326	Q9ULC0	MUCEN_HUMAN	Homo sapiens endomucin (EMCN), transcript variant 1, mRNA.	103	Thr-rich.					extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		TGTTACGTTTGAAATGATGGA	0.363000														56			20		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872320	51872320	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:51872320G>A	uc002xwo.3	+	1	3210	c.2323G>A	c.(2323-2325)Gcc>Acc	p.A775T	TSHZ2_uc021wex.1_Missense_Mutation_p.A772T	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	775					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)			AAGCAAGAAAGCCGAGTCCTC	0.562000														165			69		0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71977622	71977622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:71977622C>T	uc001swl.3	+	17	1880	c.1832C>T	c.(1831-1833)gCc>gTc	p.A611V	LGR5_uc001swm.3_Missense_Mutation_p.A587V|LGR5_uc021rar.1_Missense_Mutation_p.A539V|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	611						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GTCTCCAGTGCCGTGCTGGCT	0.512000														350			104		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21997802	21997802	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:21997802G>A	uc001rfh.3	-	24	3164	c.3144C>T	c.(3142-3144)ttC>ttT	p.F1048F	ABCC9_uc001rfi.1_Silent_p.F1048F	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1048	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)	CAAGGCAAAGGAAAATGCCTG	0.408000														40			10		0	0	1	0	0
OR12D3	81797	broad.mit.edu	37	6	29342884	29342884	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:29342884G>A	uc003nme.3	-	0	185	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						AGGTTTCCCAGAAAAAAATAC	0.398000														42			29		0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110984641	110984641	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:110984641G>A	uc003ynr.4	-	1	1641	c.837C>T	c.(835-837)gaC>gaT	p.D279D	KCNV1_uc010mcw.3_Silent_p.D279D	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	279						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TGGCAAGGAGGTCTATGATGT	0.552000														63			23		0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134201	91134201	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:91134201C>T	uc004efk.2	+	1	3807	c.2962C>T	c.(2962-2964)Ccc>Tcc	p.P988S	PCDH11X_uc004efl.2_Missense_Mutation_p.P988S|PCDH11X_uc010nmv.2_Missense_Mutation_p.P988S|PCDH11X_uc004efm.2_Missense_Mutation_p.P988S|PCDH11X_uc004efn.2_Missense_Mutation_p.P988S|PCDH11X_uc004efo.2_Missense_Mutation_p.P988S|PCDH11X_uc004efh.2_Missense_Mutation_p.P988S|PCDH11X_uc004efj.1_Missense_Mutation_p.P988S	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	988					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.P988T(4)		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						CAGTTCAGATCCCTACAGCGT	0.493000														113			79		0	0	1	0	0
HOMER2	9455	broad.mit.edu	37	15	83544044	83544044	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:83544044G>A	uc002bjg.3	-	2	464	c.275C>T	c.(274-276)tCt>tTt	p.S92F	HOMER2_uc002bjh.3_Missense_Mutation_p.S92F	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	Homo sapiens homer homolog 2 (Drosophila) (HOMER2), transcript variant 2, mRNA.	92	WH1.				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						CTGCTGCTCAGAGGAAAACCC	0.517000														49			21		0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14752679	14752679	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:14752679G>A	uc010dlo.2	+	2	516	c.336_splice	c.e2+1	p.K112_splice	ANKRD30B_uc010xak.2_Splice_Site|ANKRD30B_uc021uhy.1_Splice_Site_p.K112_splice	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	112										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CTCTGATGAAGGTAAATAGTA	0.403000														15			5		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885042	88885043	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:88885042_88885043CC>TT	uc003ydz.3	-	0	1254_1255	c.1157_1158GG>AA	c.(1156-1158)cgg>cAA	p.R386Q		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	386								p.R386Q(2)		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						AAAGGTCCTCCCGGACAGCCAT	0.550000														42			19		0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144769802	144769802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:144769802C>T	uc003qkt.3	+	15	2061	c.1969C>T	c.(1969-1971)Cgt>Tgt	p.R657C	UTRN_uc010khq.1_Missense_Mutation_p.R657C	NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	657	Interaction with SYNM.				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	p.R657C(2)		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)		GGAGACTGTTCGTGTAAGAGA	0.423000														61			38		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284112	223284112	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:223284112G>A	uc021pjl.1	-	0	2262	c.2262C>T	c.(2260-2262)atC>atT	p.I754I	TLR5_uc001hnv.2_Silent_p.I754I|TLR5_uc001hnw.2_Silent_p.I754I	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	754	TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CAAGACAAACGATCTTTCTAC	0.468000														62			44		0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70517105	70517105	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:70517105G>A	uc003xyg.2	+	11	1876	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	SULF1_uc010lza.1_Missense_Mutation_p.E439K|SULF1_uc003xyd.2_Missense_Mutation_p.E439K|SULF1_uc003xye.2_Missense_Mutation_p.E439K|SULF1_uc003xyf.2_Missense_Mutation_p.E439K|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	439					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)			GCCCAAATATGAACGGGTCAA	0.473000														93			14		0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39684284	39684284	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:39684284G>A	uc002hxd.4	-	0	358	c.216C>T	c.(214-216)tcC>tcT	p.S72S	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)		GCAGCCCGTCGGACGCGGTCA	0.716000														106			34		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74622634	74622634	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:74622634C>T	uc002axo.3	+	11	1789	c.1395C>T	c.(1393-1395)agC>agT	p.S465S	CCDC33_uc002axp.3_Silent_p.S287S|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Silent_p.S58S|CCDC33_uc002axr.3_Silent_p.S58S	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	668							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TACTGAGGAGCCGCCTGGCCC	0.632000														35			13		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10944679	10944679	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:10944679C>T	uc002yip.1	-	10	923	c.555G>A	c.(553-555)agG>agA	p.R185R	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.R167R|TPTE_uc002yir.1_Silent_p.R147R|TPTE_uc010gkv.1_Silent_p.R47R	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	185					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)		TGGGAATATTCCTAAGCAACT	0.284000														198			28		0	0	1	0	0
C10orf28	27291	broad.mit.edu	37	10	99995226	99995226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:99995226C>T	uc001kox.4	+	8	2469	c.2119C>T	c.(2119-2121)Ccc>Tcc	p.P707S	C10orf28_uc001kow.4_Missense_Mutation_p.P693S|C10orf28_uc001koy.4_Missense_Mutation_p.P693S|C10orf28_uc009xvx.3_Missense_Mutation_p.P693S|C10orf28_uc009xvy.3_Missense_Mutation_p.P99S|C10orf28_uc001koz.4_Non-coding_Transcript	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	Homo sapiens chromosome 10 open reading frame 28 (C10orf28), mRNA.	693							nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)	20		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		GAAGATTCGTCCCTTGTCACA	0.443000														18			15		0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196918596	196918596	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:196918596G>A	uc001gtq.1	+	1	147	c.70G>A	c.(70-72)Gat>Aat	p.D24N	CFHR2_uc001gtr.1_Intron	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	24	Sushi 1.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AATGTTCTGTGATTTTCCAAA	0.284000														43			14		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94718122	94718122	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:94718122G>A	uc001ycs.1	+	15	1908	c.1754G>A	c.(1753-1755)cGa>cAa	p.R585Q		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	585						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AATAGACTTCGATTTTTGGAT	0.279000														45			20		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55158216	55158216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:55158216G>A	uc010ooe.1	+	15	3155	c.2831G>A	c.(2830-2832)gGa>gAa	p.G944E	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.G512E|HEATR8_uc010ood.1_Missense_Mutation_p.G462E|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.G944E|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.G146E|HEATR8_uc001cxu.3_Missense_Mutation_p.G90E	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	944						integral to membrane	binding	p.R943R(1)		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						CACCACCGCGGAGTGGCCTTG	0.612000														63			32		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35729253	35729253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:35729253C>T	uc011axy.2	+	4	496	c.284C>T	c.(283-285)tCc>tTc	p.S95F	ARPP21_uc003cga.3_Missense_Mutation_p.S95F|ARPP21_uc003cgb.3_Missense_Mutation_p.S95F|ARPP21_uc003cgf.3_5'Flank	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	95						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						TTACAGCTTTCCAGTTTTTCC	0.358000														40			30		0	0	1	0	0
ABO	28	broad.mit.edu	37	9	136136727	136136727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:136136727C>T	uc004cda.1	-	2	174	c.149G>A	c.(148-150)gGg>gAg	p.G50E	ABO_uc010naf.1_5'UTR|ABO_uc011mcz.1_5'UTR|ABO_uc010nag.1_Intron	NM_020469	NP_065202	P16442	BGAT_HUMAN	Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) (ABO), mRNA.	50					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TCACCAGAACCCCCGTTCCAG	0.607000														10			7		0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54969363	54969364	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:54969363_54969364CC>AT	uc001sgd.2	+	11	1607_1608	c.1214_1215CC>AT	c.(1213-1215)ccc>cAT	p.P405H	PDE1B_uc010soz.2_Missense_Mutation_p.P268H|PDE1B_uc010spa.1_Missense_Mutation_p.P364H|PDE1B_uc001sge.3_Missense_Mutation_p.P385H|PDE1B_uc001sgf.3_Missense_Mutation_p.P268H|PDE1B_uc009znq.3_Missense_Mutation_p.P201H	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	405	Catalytic (By similarity).				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.P405H(2)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TTGGGCCTGCCCTTTTCTCCAC	0.569000														174			49		0	0	1	0	0
PATE2	399967	broad.mit.edu	37	11	125647308	125647308	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:125647308C>T	uc001qcu.3	-	3	357	c.311G>A	c.(310-312)aGt>aAt	p.S104N	PATE2_uc010sbj.2_Missense_Mutation_p.S61N	NM_212555	NP_997720	Q6UY27	PATE2_HUMAN	Homo sapiens prostate and testis expressed 2 (PATE2), mRNA.	104						extracellular space				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						GCAGTAGTTACTATGATCACA	0.448000														31			21		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70501887	70501887	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:70501887A>C	uc001dep.3	+	16	1995	c.1965A>C	c.(1963-1965)aaA>aaC	p.K655N	LRRC7_uc009wbg.3_Intron|LRRC7_uc001deq.3_5'Flank	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	655						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						ACCCACCCAAACTTGTTCTGC	0.403000														46			20		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22903352	22903352	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:22903352G>A	uc001bfx.1	+	2	927	c.802G>A	c.(802-804)Gag>Aag	p.E268K	EPHA8_uc001bfw.3_Missense_Mutation_p.E268K	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	268	Cys-rich.					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)		CGGCTACGAGGAGCGGCGGGA	0.687000														45			13		0	0	1	0	0
NANOS1	340719	broad.mit.edu	37	10	120789672	120789672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:120789672G>A	uc009xzf.1	+	0	445	c.359G>A	c.(358-360)gGc>gAc	p.G120D		NM_199461	NP_955631	Q8WY41	NANO1_HUMAN	Homo sapiens nanos homolog 1 (Drosophila) (NANOS1), mRNA.	120					epithelial cell migration	perinuclear region of cytoplasm	RNA binding|protein binding|translation repressor activity|zinc ion binding			lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		gggtcccggggccgcTACCTG	0.791000														4			3		0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158389972	158389972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:158389972G>A	uc010pii.2	-	0	685	c.685C>T	c.(685-687)Cct>Tct	p.P229S		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)					AGTGTGGAAGGAAACTGAAGT	0.448000														41			25		0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40400412	40400412	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:40400412G>A	uc003oph.1	-	1	906	c.441C>T	c.(439-441)ttC>ttT	p.F147F		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	147						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)					ATGTCAGCAGGAAGTCCTCAA	0.607000														92			28		0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117063353	117063353	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:117063353G>A	uc011lxl.2	+	52	4702	c.4702_splice	c.e52-1	p.G1568_splice	COL27A1_uc004bii.3_Splice_Site	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1568	Collagen-like 16.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTCCTTTAGGGAAAGGAAGGC	0.632000														96			29		0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183051210	183051210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:183051210G>A	uc002uos.3	-	12	1445	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F	PDE1A_uc010zfp.1_Missense_Mutation_p.S350F|PDE1A_uc002uoq.1_Missense_Mutation_p.S454F|PDE1A_uc010zfq.1_Missense_Mutation_p.S454F|PDE1A_uc002uor.3_Missense_Mutation_p.S438F|PDE1A_uc002uou.3_Missense_Mutation_p.S420F	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	454	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TGCCACATAGGAAGAAGTTTC	0.338000														33			5		0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83335593	83335593	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:83335593G>A	uc010uoi.2	-	14	1935	c.1758C>T	c.(1756-1758)atC>atT	p.I586I	AP3B2_uc010uoh.2_Silent_p.I586I|AP3B2_uc010uoj.2_Silent_p.I554I|AP3B2_uc010uog.2_Silent_p.I222I	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	586					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CGGAAGGGACGATGAGCTGCC	0.587000														140			66		0	0	1	0	0
PHF1	5252	broad.mit.edu	37	6	33383033	33383033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:33383033C>T	uc003oeh.3	+	12	1497	c.1261C>T	c.(1261-1263)Ccc>Tcc	p.P421S	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Intron|PHF1_uc010jux.3_Missense_Mutation_p.P221S	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	421					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TCCACCATCCCCCAGCCCTAA	0.622000														266			119		0	0	1	0	0
ZNF823	55552	broad.mit.edu	37	19	11833694	11833694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:11833694G>A	uc002msm.2	-	3	781	c.655C>T	c.(655-657)Ccg>Tcg	p.P219S	ZNF823_uc010xmd.1_Missense_Mutation_p.P37S|ZNF823_uc010dyi.1_Missense_Mutation_p.P175S	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	Homo sapiens zinc finger protein 823 (ZNF823), mRNA.	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						CATTCATACGGTTTCTCTCCA	0.403000										HNSCC(68;0.2)				164			61		0	0	1	0	0
RHOT2	89941	broad.mit.edu	37	16	720896	720896	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:720896C>T	uc002cip.3	+	9	761	c.644C>T	c.(643-645)tCc>tTc	p.S215F	RHOT2_uc002ciq.3_Missense_Mutation_p.S108F|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.	215	EF-hand 1.				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)				AAGCAGAAATCCTGCTTTGGG	0.672000														31			9		0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135201741	135201741	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:135201741G>A	uc004cbk.3	-	9	5427	c.5244C>T	c.(5242-5244)ttC>ttT	p.F1748F	SETX_uc004cbj.3_Silent_p.F1367F|SETX_uc010mzt.3_Silent_p.F1367F	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1748					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.L1750fs*8(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CCATCAAAGGGAAAAAAACAT	0.378000														33			18		0	0	1	0	0
LOC440518	440518	broad.mit.edu	37	19	22780192	22780192	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:22780192C>T	uc002nqu.4	+	1		c.270C>T								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		GGTTGCCACTCACCTGGAGAT	0.517000														114			28		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138662882	138662882	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:138662882G>A	uc011mdq.2	+	17	2023	c.1949G>A	c.(1948-1950)gGg>gAg	p.G650E	KCNT1_uc011mdr.2_Missense_Mutation_p.G477E|KCNT1_uc010nbf.3_Missense_Mutation_p.G605E|KCNT1_uc004cgo.1_Missense_Mutation_p.G399E	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	650						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)		GCCTTCTCGGGGCAGGGGCTG	0.657000														24			11		0	0	1	0	0
PROM1	8842	broad.mit.edu	37	4	16037363	16037363	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:16037363G>C	uc003goo.2	-	2	510	c.298C>G	c.(298-300)Cta>Gta	p.L100V	PROM1_uc003gor.2_Missense_Mutation_p.L100V|PROM1_uc003gos.2_Intron|PROM1_uc003got.2_Missense_Mutation_p.L100V|PROM1_uc003gou.2_Intron|PROM1_uc003gop.2_Intron|PROM1_uc003goq.3_Intron|PROM1_uc010iec.1_Intron	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	100					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TTTACCTTTAGACCTAAGATT	0.403000														114			30		0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31084228	31084228	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:31084228C>T	uc003nsm.2	-	1	1220	c.1164G>A	c.(1162-1164)aaG>aaA	p.K388K	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	388	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						AGCAGGGTCCCTTGGAGCCCG	0.637000														18			6		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63954088	63954088	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:63954088G>C	uc002amp.3	-	44	9182	c.9034C>G	c.(9034-9036)Cgc>Ggc	p.R3012G		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.	3012					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						CCATTGCTGCGATAGCCCTGG	0.537000														180			61		0	0	1	0	0
ZNF266	10781	broad.mit.edu	37	19	9524886	9524886	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9524886G>A	uc010dwq.3	-	8	1923	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	ZNF266_uc002mll.3_Missense_Mutation_p.P239S|ZNF266_uc002mlm.3_Missense_Mutation_p.P239S|ZNF266_uc002mln.3_Missense_Mutation_p.P239S|ZNF266_uc002mlo.3_Missense_Mutation_p.P239S	NM_198058	NP_932175	Q14584	ZN266_HUMAN	Homo sapiens zinc finger protein 266 (ZNF266), mRNA.	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						CACTCATAGGGATTGTCTCCA	0.408000														87			36		0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7621579	7621579	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:7621579C>T	uc010xjq.2	+	27	3519	c.3279C>T	c.(3277-3279)atC>atT	p.I1093I	PNPLA6_uc002mgq.2_Silent_p.I1045I|PNPLA6_uc010xjp.2_Silent_p.I1018I|PNPLA6_uc002mgr.2_Silent_p.I1045I|PNPLA6_uc002mgs.3_Silent_p.I1083I	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	1084	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CCACAGATATCACCGCCTCAG	0.667000														61			35		0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28575121	28575121	+	Silent	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:28575121C>A	uc003xgz.1	+	2	2138	c.1545C>A	c.(1543-1545)ctC>ctA	p.L515L		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	515						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)		GCCGCTTTCTCTGGGAGACTT	0.552000														97			30		1.08312e-15	1.09343e-15	1	1	0
ZBTB16	7704	broad.mit.edu	37	11	113934125	113934125	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:113934125G>A	uc001pop.3	+	1	367	c.103G>A	c.(103-105)Gat>Aat	p.D35N	ZBTB16_uc001poo.1_Missense_Mutation_p.D35N|ZBTB16_uc001poq.3_Missense_Mutation_p.D35N	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	35	BTB.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GACTTTGTGCGATGTGGTCAT	0.587000														32			38		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111757990	111757990	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:111757990C>T	uc001tsa.2	+	16	2331	c.2177C>T	c.(2176-2178)tCg>tTg	p.S726L		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	726						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GTGCCCCCCTCGCCCCCGGAG	0.741000														7			3		0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39806702	39806702	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:39806702G>A	uc010lwy.1	+	1	299	c.57G>A	c.(55-57)ccG>ccA	p.P19P	IDO2_uc003xno.1_Non-coding_Transcript	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	6					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CCCACAGACCGAATGTGAAGA	0.408000														11			8		0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89237436	89237436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:89237436C>T	uc001dmn.3	+	5	1201	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	PKN2_uc010osp.2_Missense_Mutation_p.P287S|PKN2_uc010osq.2_Missense_Mutation_p.P130S|PKN2_uc009wcv.3_Missense_Mutation_p.P287S	NM_006256	NP_006247	Q16513	PKN2_HUMAN	Homo sapiens protein kinase N2 (PKN2), mRNA.	287					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		CAAGAATCATCCCAAAAGCAG	0.368000														166			36		0	0	1	0	0
TP53I3	9540	broad.mit.edu	37	2	24305773	24305773	+	Nonsense_Mutation	SNP	G	A	A	rs143715832	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:24305773G>A	uc002rey.2	-	2	878	c.388C>T	c.(388-390)Cag>Tag	p.Q130*	LOC375190_uc002rew.3_Intron|TP53I3_uc002rex.2_Nonsense_Mutation_p.Q130*|TP53I3_uc002rez.2_Nonsense_Mutation_p.Q130*|TP53I3_uc010ykk.2_Intron	NM_147184	NP_671713	Q53FA7	QORX_HUMAN	Homo sapiens tumor protein p53 inducible protein 3 (TP53I3), transcript variant 2, mRNA.	130					NADP metabolic process|induction of apoptosis by oxidative stress		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTAACAGCTGGAAGGCGGTG	0.572000														26			14		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993398	140993398	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:140993398C>T	uc004fbt.3	+	3	532	c.208C>T	c.(208-210)Cct>Tct	p.P70S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	70							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)					TCTCCAGAGACCTCCTGAGGG	0.582000										HNSCC(15;0.026)				113			67		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151163411	151163411	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:151163411C>T	uc011bod.2	-	3	4358	c.4358G>A	c.(4357-4359)aGg>aAg	p.R1453K		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1453					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)			GATTGCTTTCCTAGTTGTGGT	0.448000														161			97		0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921140	247921140	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:247921140G>A	uc010pza.2	-	0	569	c.569C>T	c.(568-570)tCt>tTt	p.S190F		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C189C(1)		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)			GGAGACGTCAGAGCAAGAGAG	0.458000														30			5		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141598492	141598492	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:141598492G>A	uc002tvj.1	-	29	6081	c.5109C>T	c.(5107-5109)gtC>gtT	p.V1703V		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1703					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)		TTTACCCCCTGACTGGGTGAG	0.343000										TSP Lung(27;0.18)				54			21		0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40853616	40853616	+	Silent	SNP	C	T	T	rs139253407	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:40853616C>T	uc003jmg.3	+	2	2257	c.2182C>T	c.(2182-2184)Cta>Tta	p.L728L		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	728					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CAGGCCTGTTCTAGAGAACTC	0.488000														316			124		0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111317782	111317782	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:111317782G>A	uc001trv.1	+	5	757	c.562G>A	c.(562-564)Gag>Aag	p.E188K	CCDC63_uc009zvt.1_Intron|CCDC63_uc010sye.1_Missense_Mutation_p.E148K|CCDC63_uc001trw.1_Missense_Mutation_p.E103K	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	188										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CCTACGATTTGAGAAGGCTGC	0.473000														186			71		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149270438	149270438	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:149270438G>A	uc002twm.4	+	15	5411	c.4414_splice	c.e15-1	p.V1472_splice	MBD5_uc010zbs.2_Splice_Site|MBD5_uc002two.3_Splice_Site_p.V730_splice|MBD5_uc002twp.3_Splice_Site_p.V522_splice	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1472						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)		TTTATTTCCAGGTACACCAAA	0.433000														99			29		0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171254340	171254340	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:171254340G>A	uc009wvz.3	+	9	1393	c.1257_splice	c.e9-1	p.W419_splice	FMO1_uc010pme.2_Splice_Site_p.W356_splice|FMO1_uc001ghl.3_Splice_Site_p.W419_splice|FMO1_uc001ghm.3_Splice_Site_p.W419_splice	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	419					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)					CTTTTATAAAGGTTTGGCTTG	0.368000														69			24		0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792847	143792847	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:143792847C>T	uc011kty.2	+	0	647	c.647C>T	c.(646-648)tCc>tTc	p.S216F		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GTGCTGGTCTCCTACTTGCAC	0.582000														233			76		0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125152509	125152509	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:125152509C>T	uc004bmg.1	+	9	1464	c.1329C>T	c.(1327-1329)atC>atT	p.I443I	PTGS1_uc011lys.1_Silent_p.I381I|PTGS1_uc010mwb.1_Silent_p.I297I|PTGS1_uc004bmf.1_Silent_p.I406I|PTGS1_uc004bmh.1_Silent_p.I334I|PTGS1_uc011lyt.1_Silent_p.I334I	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	443			I -> V (in dbSNP:rs5792).		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)	ACCACCACATCCTGCATGTGG	0.592000														43			25		0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12542018	12542018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:12542018G>A	uc002mtu.3	-	3	1166	c.968C>T	c.(967-969)tCc>tTc	p.S323F		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	323					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TCTTTGAAGGGAACCGGAAAC	0.433000														119			52		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170846571	170846571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:170846571C>T	uc003fhh.2	-	15	2050	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	TNIK_uc003fhi.2_Intron|TNIK_uc003fhj.2_Missense_Mutation_p.E540K|TNIK_uc003fhk.2_Missense_Mutation_p.E569K|TNIK_uc003fhl.2_Intron|TNIK_uc003fhm.2_Intron|TNIK_uc003fhn.2_Missense_Mutation_p.E540K|TNIK_uc003fho.2_Intron	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	569	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTGAAGGACTCCGACCTTGGG	0.567000														48			11		0	0	1	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102509599	102509599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:102509599C>T	uc003kod.4	+	20	2971	c.2452C>T	c.(2452-2454)Cgt>Tgt	p.R818C	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Missense_Mutation_p.R818C|PPIP5K2_uc003kof.3_Missense_Mutation_p.R119C	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	818					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACGTCATGTTCGTACTAGATT	0.333000														19			7		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018253	161018253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:161018253C>T	uc001fxl.3	-	11	2904	c.2558G>A	c.(2557-2559)gGg>gAg	p.G853E	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Intron|ARHGAP30_uc001fxm.3_Missense_Mutation_p.G699E|ARHGAP30_uc009wtx.3_Missense_Mutation_p.G526E	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	853	Glu-rich.				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)			TAAATAGTACCCTCCAGCCCT	0.562000														209			104		0	0	1	0	0
COX8C	341947	broad.mit.edu	37	14	93814420	93814420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:93814420C>T	uc001ybt.1	+	1	251	c.173C>T	c.(172-174)cCa>cTa	p.P58L	UNC79_uc001ybs.1_Intron	NM_182971	NP_892016	Q7Z4L0	COX8C_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIIC (COX8C), nuclear gene encoding mitochondrial protein, mRNA.	58						integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity			large_intestine(1)|lung(1)|prostate(2)|skin(1)	5		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		TTCTTAACACCAGCTGCATAT	0.443000														120			36		0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143958442	143958442	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:143958442C>T	uc010mey.3	-	4	812	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	CYP11B1_uc010mex.3_5'Flank|CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Missense_Mutation_p.E198K|CYP11B1_uc003yxj.3_Missense_Mutation_p.E198K	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	198					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CCCACACCTTCTATGGTGTAG	0.652000									Familial Hyperaldosteronism type I					31			4		0	0	1	0	0
MCCC2	64087	broad.mit.edu	37	5	70952669	70952669	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:70952669C>T	uc003kbs.4	+	16	1812	c.1674C>T	c.(1672-1674)ttC>ttT	p.F558F	MCCC2_uc003kbt.4_Non-coding_Transcript	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 2 (beta) (MCCC2), nuclear gene encoding mitochondrial protein, mRNA.	558					leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	AGACTGACTTCGGTATCTTCA	0.423000														71			51		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43816735	43816735	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:43816735C>T	uc001zrt.3	+	3	3531	c.3064C>T	c.(3064-3066)Caa>Taa	p.Q1022*		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1022						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)	GTCTGAGCCCCAAGACTTTCA	0.567000														97			30		0	0	1	0	0
MYOC	4653	broad.mit.edu	37	1	171605543	171605543	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:171605543C>T	uc001ghu.3	-	2	1059	c.1037G>A	c.(1036-1038)aGa>aAa	p.R346K	MYOC_uc010pmk.2_Missense_Mutation_p.R288K	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	346	Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAGCTCATATCTTATGACAGT	0.532000														77			68		0	0	1	0	0
HOXA9	3205	broad.mit.edu	37	7	27204900	27204900	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:27204900C>T	uc003syt.3	-	0	250	c.177G>A	c.(175-177)aaG>aaA	p.K59K	HOXA9_uc022aar.1_Intron	NM_152739	NP_689952	P31269	HXA9_HUMAN	Homo sapiens homeobox A9 (HOXA9), mRNA.	59							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						ACACCGTCGCCTTGGACTGGA	0.716000			T	"""NUP98, MSI2"""	AML*									7			7		0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63021546	63021546	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:63021546A>G	uc001daq.3	-	20	2580	c.2546T>C	c.(2545-2547)aTt>aCt	p.I849T	DOCK7_uc001dan.3_Missense_Mutation_p.I741T|DOCK7_uc001dao.3_Missense_Mutation_p.I741T|DOCK7_uc001dap.3_Missense_Mutation_p.I849T|DOCK7_uc001dam.3_Missense_Mutation_p.I29T	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	849					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						AACATAATGAATATATGATGC	0.343000														87			41		0	0	1	0	0
VCP	7415	broad.mit.edu	37	9	35066696	35066696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:35066696C>T	uc003zvy.2	-	3	810	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_Missense_Mutation_p.E96K	NM_007126	NP_009057	P55072	TERA_HUMAN	Homo sapiens valosin containing protein (VCP), mRNA.	141					ER-associated protein catabolic process|activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CGATACGCTTCCAGGAAGTAC	0.433000														66			16		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71220705	71220705	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:71220705G>A	uc002ezr.3	-	1	245	c.94C>T	c.(94-96)Ctg>Ttg	p.L32L	HYDIN_uc010cfz.2_5'UTR|HYDIN_uc021tkq.1_Silent_p.L32L|HYDIN_uc010vmc.2_Silent_p.L49L|HYDIN_uc010vmd.2_Silent_p.L59L|HYDIN_uc002ezw.4_Silent_p.L49L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	32										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)				TTTGGACTCAGGGGTGGCAAA	0.398000														39			11		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37121752	37121752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:37121752G>A	uc011cpa.1	-	47	9221	c.8990C>T	c.(8989-8991)tCt>tTt	p.S2997F	C5orf42_uc003jko.1_Missense_Mutation_p.S28F|C5orf42_uc003jkp.1_Non-coding_Transcript|C5orf42_uc011coy.1_Missense_Mutation_p.S1515F|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.S2090F	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2997										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACAACTGGAAGACTGAGTAGG	0.458000														61			19		0	0	1	0	0
ZBTB2	57621	broad.mit.edu	37	6	151687318	151687318	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:151687318G>A	uc003qoh.3	-	2	1018	c.883C>T	c.(883-885)Ctc>Ttc	p.L295F		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	Homo sapiens zinc finger and BTB domain containing 2 (ZBTB2), mRNA.	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		TTGCTACAGAGAGTCAGGGGG	0.542000														83			60		0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	52996869	52996869	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:52996869C>T	uc003pbp.3	-	3	586	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	GCM1_uc010jzr.2_Missense_Mutation_p.R126Q	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	126						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CCCATGACCTCGGCAAGGGAT	0.507000														89			28		0	0	1	0	0
CTSE	1510	broad.mit.edu	37	1	206331149	206331149	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:206331149G>A	uc001hdu.3	+	8	1273	c.1155G>A	c.(1153-1155)ggG>ggA	p.G385G	CTSE_uc001hdv.3_Missense_Mutation_p.G338E|CTSE_uc010prs.2_Missense_Mutation_p.G263E	NM_001910	NP_001901	P14091	CATE_HUMAN	Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA.	390					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity	p.G385G(2)		endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TTGACCGTGGGAATAACCGTG	0.562000														197			45		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141110581	141110581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:141110581G>A	uc002tvj.1	-	75	12563	c.11591C>T	c.(11590-11592)tCa>tTa	p.S3864L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3864	EGF-like 9.				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)		ACATTTATATGATCCTTCCAC	0.343000										TSP Lung(27;0.18)				48			14		0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100369020	100369020	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:100369020C>T	uc003pqh.1	-	5	1134	c.819G>A	c.(817-819)gtG>gtA	p.V273V	MCHR2_uc003pqi.1_Silent_p.V273V	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	273						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V273L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TCTGTAAGTTCACCAGTTGTA	0.468000														60			49		0	0	1	0	0
SCAMP5	192683	broad.mit.edu	37	15	75309050	75309050	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:75309050T>G	uc002azn.2	+	3	440	c.253T>G	c.(253-255)Tcc>Gcc	p.S85A	SCAMP5_uc002azl.2_Missense_Mutation_p.S85A|SCAMP5_uc002azm.2_Missense_Mutation_p.S85A|SCAMP5_uc002azk.2_Missense_Mutation_p.S85A|SCAMP5_uc010uly.2_Intron	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.	85					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						CACACCCTGCTCCTACGTCTG	0.602000														138			41		0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73790984	73790984	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:73790984C>T	uc003uam.3	+	9	2580	c.2253C>T	c.(2251-2253)ttC>ttT	p.F751F	CLIP2_uc003uan.3_Silent_p.F716F|CLIP2_uc003uao.3_Silent_p.F145F	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	751						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						CTATCGAGTTCCTCAAGGAGC	0.637000														68			31		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248603	20248603	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:20248603G>A	uc010tku.2	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41A(2)|p.P40T(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTACCAGGAAATATCCTT	0.423000														307			79		0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30260388	30260388	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:30260388C>T	uc002kxm.1	-	5	1801	c.1413G>A	c.(1411-1413)ggG>ggA	p.G471G		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	471						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGTATATTTTCCCATTGTGCA	0.458000														53			32		0	0	1	0	0
PLAU	5328	broad.mit.edu	37	10	75673310	75673310	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:75673310C>T	uc001jwa.3	+	6	620	c.474C>T	c.(472-474)tcC>tcT	p.S158S	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Silent_p.S141S|PLAU_uc010qkx.2_Silent_p.S72S|PLAU_uc001jwb.3_Non-coding_Transcript|PLAU_uc001jwc.3_Silent_p.S158S|PLAU_uc009xrq.1_Silent_p.S122S	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	158	Connecting peptide.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	AAAAGCCCTCCTCTCCTCCAG	0.527000														315			216		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135496359	135496359	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:135496359G>A	uc004ezu.1	+	24	9369	c.9078G>A	c.(9076-9078)caG>caA	p.Q3026Q	GPR112_uc010nsb.1_Silent_p.Q2821Q	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	3026					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)					GATATAAACAGGAGGGACTAA	0.378000														90			47		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155249265	155249265	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:155249265A>G	uc003inw.2	-	11	2633	c.2633T>C	c.(2632-2634)gTt>gCt	p.V878A	DCHS2_uc003inx.2_Missense_Mutation_p.V1333A	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	878	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V878F(1)		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)		TGAGTATGTAACTTCTGCATT	0.368000														67			27		0	0	1	0	0
DPM2	8818	broad.mit.edu	37	9	130698837	130698837	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:130698837A>C	uc004bsv.2	-	2	855	c.191T>G	c.(190-192)tTt>tGt	p.F64C		NM_003863	NP_003854	O94777	DPM2_HUMAN	Homo sapiens dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit (DPM2), mRNA.	64					C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|preassembly of GPI anchor in ER membrane|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability	dolichol-phosphate-mannose synthase complex|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to endoplasmic reticulum membrane	protein binding			lung(1)	1						CTTACCCACAAACAGGAGCAG	0.582000														165			54		0	0	1	0	0
ATAD3B	83858	broad.mit.edu	37	1	1416287	1416287	+	Missense_Mutation	SNP	C	T	T	rs145500839		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:1416287C>T	uc001afv.3	+	4	586	c.485C>T	c.(484-486)tCc>tTc	p.S162F	ATAD3B_uc001afw.2_Missense_Mutation_p.S116F|ATAD3B_uc001afx.3_Missense_Mutation_p.S116F	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	Homo sapiens ATPase family, AAA domain containing 3B (ATAD3B), nuclear gene encoding mitochondrial protein, mRNA.	162							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|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;0.145)		CAGGAGGAGTCCGTGCAGAAG	0.552000														139			36		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139923177	139923177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:139923177G>A	uc004ckm.1	-	0	198	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S	ABCA2_uc022bpy.1_5'Flank|ABCA2_uc022bpz.1_5'Flank|ABCA2_uc011mem.1_5'Flank|ABCA2_uc004ckl.1_5'Flank|C9orf139_uc004ckp.1_Intron	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	0					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACCTGGAAGGGAGGCAGGGCG	0.687000														23			10		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481280	142481280	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:142481280C>T	uc011ksq.2	+	2	437	c.354C>T	c.(352-354)gtC>gtT	p.V118V	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		CACCTGCCGTCATCAATGCCC	0.547000														65			27		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67101643	67101643	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:67101643G>A	uc002jhw.1	-	19	2875	c.2700C>T	c.(2698-2700)ccC>ccT	p.P900P		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	900					transport	integral to membrane	ATP binding|ATPase activity	p.P900L(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GGGGTTCCTGGGGAAGTTGTC	0.318000														24			7		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50546362	50546362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:50546362C>T	uc001zxz.3	-	5	1027	c.685G>A	c.(685-687)Gag>Aag	p.E229K	HDC_uc001zxy.3_5'Flank|HDC_uc010uff.2_Missense_Mutation_p.E229K|HDC_uc010bet.2_Missense_Mutation_p.E150K|HDC_uc010beu.2_Missense_Mutation_p.E229K	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	229					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.I228M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TTGTCTTCCTCGATGGCCTTC	0.473000														87			35		0	0	1	0	0
MSANTD2	79684	broad.mit.edu	37	11	124637140	124637140	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:124637140G>A	uc001qba.1	-	3	1635	c.1612C>T	c.(1612-1614)Ctt>Ttt	p.L538F	MSANTD2_uc001qaz.1_Missense_Mutation_p.L486F|MSANTD2_uc010sap.1_Missense_Mutation_p.L258F|MSANTD2_uc001qay.1_Missense_Mutation_p.L308F	NM_024631	NP_078907	Q6P1R3	CK061_HUMAN	Homo sapiens chromosome 11 open reading frame 61 (C11orf61), mRNA.	538																	CCTGCGGAAAGAAAATCCCTC	0.413000														83			43		0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35926016	35926016	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:35926016G>A	uc001byx.3	-	8	1575	c.1317C>T	c.(1315-1317)atC>atT	p.I439I	KIAA0319L_uc010ohv.1_Silent_p.I81I|KIAA0319L_uc010ohw.2_Non-coding_Transcript	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	439	PKD 2.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGTACTGAACGATTTTATCAT	0.393000														112			34		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207758069	207758069	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:207758069G>A	uc001hfy.3	+	24	4168	c.4028G>A	c.(4027-4029)gGa>gAa	p.G1343E	CR1_uc009xcl.1_Missense_Mutation_p.G893E|CR1_uc001hfx.3_Missense_Mutation_p.G1793E|CR1_uc021pij.1_Missense_Mutation_p.G1343E	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1343	Sushi 21.				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						ATTCCCTATGGAAAAGAAATA	0.473000														115			57		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323950	31323950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:31323950G>A	uc010dmg.1	+	11	4193	c.4138G>A	c.(4138-4140)Gaa>Aaa	p.E1380K	ASXL3_uc002kxq.2_Missense_Mutation_p.E1087K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1380					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						ACCTGGGAGTGAAGAACAGGC	0.507000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		92			71		0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58438668	58438668	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:58438668G>T	uc002qqs.1	-	3	1173	c.881C>A	c.(880-882)tCt>tAt	p.S294Y	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Missense_Mutation_p.S209Y	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		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;0.0158)		ATGACTAAAAGATTTCCCACA	0.428000														141			76		4.8811e-34	4.9519e-34	1	1	0
B4GALT4	8702	broad.mit.edu	37	3	118935164	118935165	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:118935164_118935165GG>AA	uc003ecg.3	-	6	1465_1466	c.824_825CC>TT	c.(823-825)tcc>tTT	p.S275F	B4GALT4_uc003ece.1_Missense_Mutation_p.S275F|B4GALT4_uc003ech.3_Missense_Mutation_p.S275F|B4GALT4_uc003eci.3_Missense_Mutation_p.S275F|B4GALT4_uc011biy.1_Non-coding_Transcript	NM_212543	NP_997708	O60513	B4GT4_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 (B4GALT4), transcript variant 1, mRNA.	275					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|metal ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	GCAGGGGCCGGGAAATTTTCAT	0.411000														112			21		0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071338	240071338	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:240071338C>T	uc021plc.1	+	0	587	c.587C>T	c.(586-588)tCc>tTc	p.S196F	CHRM3_uc001hyp.3_Missense_Mutation_p.S196F	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	196					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.S196F(2)		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)	TGGGTCATCTCCTTTGTCCTT	0.517000														207			91		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38881752	38881752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:38881752G>A	uc003jln.2	+	3	706	c.304G>A	c.(304-306)Gag>Aag	p.E102K	OSMR_uc003jlm.2_Missense_Mutation_p.E102K	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	102					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	p.E102D(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CTGGGAATCTGAGCTCCCTTT	0.463000														81			24		0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54037565	54037565	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:54037565G>A	uc004dsu.3	-	7	1290	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	PHF8_uc004dsv.3_Silent_p.F178F|PHF8_uc004dst.3_Silent_p.F312F|PHF8_uc004dsw.3_Silent_p.F312F|PHF8_uc004dsx.3_Silent_p.F76F|PHF8_uc004dsy.3_Silent_p.F312F	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	348	JmjC.				G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|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			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CTGTGGGAATGAAAAGTGTCT	0.498000														35			28		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10366423	10366423	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:10366423C>T	uc002gmn.3	-	9	999	c.888G>A	c.(886-888)aaG>aaA	p.K296K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	296	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTCTGGTTTCTTATTGGACA	0.383000														43			23		0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203676236	203676236	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:203676236C>T	uc001gzw.3	+	8	2096	c.1199C>T	c.(1198-1200)cCc>cTc	p.P400L	ATP2B4_uc001gzv.3_Missense_Mutation_p.P400L|ATP2B4_uc009xaq.3_Missense_Mutation_p.P400L	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	400					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGTGTACTCCCATCTACATC	0.493000														62			22		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9005204	9005205	+	Missense_Mutation	DNP	GG	AA	AA	rs75792671	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9005204_9005205GG>AA	uc002mkp.3	-	46	40076_40077	c.39872_39873CC>TT	c.(39871-39873)ccc>cTT	p.P13291L	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.P108L|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13293					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						TGCTGGTGGTGGGCACAGAGCT	0.520000														51			10		0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160264545	160264545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:160264545G>A	uc003iqg.4	+	15	3070	c.2760G>A	c.(2758-2760)atG>atA	p.M920I		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	920	Ras-GEF.				MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity	p.G920E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CTGCCCTCATGTTCAGGACTC	0.423000														102			17		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171056708	171056708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:171056708C>T	uc002ufy.3	+	2	378	c.235C>T	c.(235-237)Cct>Tct	p.P79S	MYO3B_uc002ufv.3_Missense_Mutation_p.P66S|MYO3B_uc010fqb.1_Missense_Mutation_p.P79S|MYO3B_uc002ufz.3_Missense_Mutation_p.P79S|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002uga.3_Missense_Mutation_p.P66S	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	79	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCAGTTCCTTCCTAATCATCC	0.423000														51			16		0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72050882	72050882	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:72050882G>A	uc001swo.2	-	1	1157	c.798C>T	c.(796-798)ttC>ttT	p.F266F	ZFC3H1_uc010sts.2_Silent_p.F266F|ZFC3H1_uc001swp.3_Silent_p.F266F	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	266					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTGGTCCTCGAAGTTCAATG	0.363000														79			33		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48663784	48663784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:48663784G>A	uc003cuf.1	-	54	12290	c.12290C>T	c.(12289-12291)cCt>cTt	p.P4097L	CELSR3_uc003cug.3_Missense_Mutation_p.P690L|CELSR3_uc011bbp.2_Missense_Mutation_p.P675L|CELSR3_uc010hke.3_Missense_Mutation_p.P543L|CELSR3_uc003cuk.3_Missense_Mutation_p.P603L|CELSR3_uc003cuh.3_Missense_Mutation_p.P711L|CELSR3_uc003cui.3_Missense_Mutation_p.P710L|CELSR3_uc003cuj.3_Missense_Mutation_p.P692L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	0					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)		GCTGACCACAGGGCCTGTGGG	0.562000														117			34		0	0	1	0	0
LALBA	3906	broad.mit.edu	37	12	48962901	48962901	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:48962901G>A	uc001rrt.3	-	1	282	c.256C>T	c.(256-258)Cct>Tct	p.P86S		NM_002289	NP_002280	P00709	LALBA_HUMAN	Homo sapiens lactalbumin, alpha- (LALBA), mRNA.	86					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						CTTGACTGAGGGACCTGGCTG	0.463000														102			31		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965728	35965728	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:35965728C>T	uc003jjv.2	-	3	796	c.603G>A	c.(601-603)gtG>gtA	p.V201V	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Silent_p.V201V|UGT3A1_uc011cor.2_Silent_p.V167V|UGT3A1_uc003jjy.2_Silent_p.V147V	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	201						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAAAATTCTTCACTCGGCCCC	0.478000														57			22		0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17746877	17746877	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:17746877T>C	uc011mix.2	+	7	4669	c.4331T>C	c.(4330-4332)tTa>tCa	p.L1444S	NHS_uc004cxx.3_Missense_Mutation_p.L1423S|NHS_uc004cxy.3_Missense_Mutation_p.L1267S|NHS_uc004cxz.3_Missense_Mutation_p.L1246S|NHS_uc004cya.3_Missense_Mutation_p.L1146S	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	1423						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ACTGAGGATTTATTTGCAGTC	0.448000														59			49		0	0	1	0	0
TMEM184B	25829	broad.mit.edu	37	22	38627283	38627283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:38627283G>A	uc003avf.1	-	3	640	c.416C>T	c.(415-417)tCc>tTc	p.S139F	TMEM184B_uc003avh.2_Missense_Mutation_p.S73F|TMEM184B_uc003avg.2_Missense_Mutation_p.S139F|TMEM184B_uc010gxl.2_Non-coding_Transcript	NM_001195071	NP_001182001	Q9Y519	T184B_HUMAN	Homo sapiens transmembrane protein 184B (TMEM184B), transcript variant 2, mRNA.	139						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					CGACATGATGGAACTTTCTCC	0.507000														230			133		0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45945705	45945705	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:45945705G>A	uc001nbv.1	+	4	480	c.369_splice	c.e4-1	p.R123_splice	GYLTL1B_uc001nbw.1_Splice_Site_p.R92_splice|GYLTL1B_uc001nbx.1_Splice_Site_p.R123_splice	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	123					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CACCCAAAAGGAAAAATCCAC	0.597000														133			30		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41065470	41065470	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:41065470G>A	uc003jmj.4	-	3	814	c.324C>T	c.(322-324)ttC>ttT	p.F108F	HEATR7B2_uc021xxt.1_Silent_p.F108F	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	108							binding	p.F108F(2)		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						CAAGCACAACGAATTCATCTG	0.418000														18			8		0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153655936	153655936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:153655936C>T	uc001fcs.4	+	5	1769	c.1348C>T	c.(1348-1350)Cct>Tct	p.P450S	NPR1_uc010pdz.2_Missense_Mutation_p.P196S|NPR1_uc010pea.2_5'Flank	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	450					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			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)	GTACCCTCCTCCTGACATCCC	0.572000														116			49		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634966	32634966	+	Silent	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:32634966A>G	uc003zrg.1	-	0	702	c.612T>C	c.(610-612)agT>agC	p.S204S	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.	204					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)		AATCAGAGTAACTACTGAAAT	0.468000														114			50		0	0	1	0	0
HGSNAT	138050	broad.mit.edu	37	8	43025809	43025809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:43025809C>T	uc003xpx.4	+	6	763	c.715C>T	c.(715-717)Cgc>Tgc	p.R239C		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.	267					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CCTGCCGCCCCGCCTCCGCAG	0.567000														13			6		0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36123097	36123097	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:36123097G>A	uc003aof.3	+	2	982	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	Homo sapiens apolipoprotein L, 5 (APOL5), mRNA.	328					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GACAGCAGAGGAACTGAGAGC	0.607000														85			29		0	0	1	0	0
OR2L2	26246	broad.mit.edu	37	1	248202081	248202081	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:248202081G>A	uc001idw.3	+	0	608	c.512G>A	c.(511-513)aGa>aAa	p.R171K	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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;0.0278)			TGCAAGTCCAGAGCCATCAAT	0.438000														233			77		0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111263947	111263947	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:111263947C>T	uc003dxw.3	+	1	286	c.116C>T	c.(115-117)tCt>tTt	p.S39F	CD96_uc003dxv.3_Missense_Mutation_p.S39F|CD96_uc003dxx.3_Missense_Mutation_p.S39F|CD96_uc010hpy.1_Missense_Mutation_p.S39F	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	39	Ig-like V-type 1.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						ACACTTGGCTCTGATGTCAAC	0.403000									Opitz Trigonocephaly syndrome					92			72		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105150443	105150443	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:105150443G>A	uc004emd.3	+	10	1185	c.882G>A	c.(880-882)acG>acA	p.T294T	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	294	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AAAAGTGTACGATAAAAAATT	0.378000										HNSCC(51;0.14)				5			4		0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35555487	35555488	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:35555487_35555488CC>TT	uc003zww.3	+	2	2700_2701	c.2445_2446CC>TT	c.(2443-2448)ccccca>ccTTca	p.P816S	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.P816S	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	816						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AAAGCCTGCCCCCATGGAGCCA	0.629000														119			81		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67664823	67664823	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:67664823C>T	uc002aqo.2	+	8	1225	c.1128C>T	c.(1126-1128)atC>atT	p.I376I	IQCH_uc010ujv.2_Silent_p.I195I|IQCH_uc002aqn.2_Silent_p.I203I|IQCH_uc002aqp.2_Silent_p.I128I|IQCH_uc002aqq.2_Silent_p.I124I	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	376	IQ.									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)		CCATGAAGATCCAAGCCACAT	0.463000														74			30		0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53422434	53422434	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:53422434G>A	uc001vhi.3	-	0	342	c.138C>T	c.(136-138)atC>atT	p.I46I	PCDH8_uc001vhj.3_Silent_p.I46I	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	46	Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCAGGGTCCCGATGACCGTGC	0.602000														121			109		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76528663	76528663	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:76528663G>A	uc010dhp.2	-	19	3140	c.3015C>T	c.(3013-3015)ttC>ttT	p.F1005F		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)			CATATATCAGGAAATTCTTCA	0.542000														26			12		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199749	71199749	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:71199749G>A	uc001xmm.3	-	10	2337	c.2337C>T	c.(2335-2337)ccC>ccT	p.P779P	MAP3K9_uc010ttk.2_Silent_p.P507P|MAP3K9_uc001xmk.3_Silent_p.P512P|MAP3K9_uc001xml.3_Silent_p.P793P	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	779					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)		GCTCCTCCAGGGGAAGCAGCT	0.652000														130			28		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182649	140182649	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140182649C>T	uc003lhf.2	+	0	1867	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.R623C	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	634	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)			CATCCCGTTTCGCGTGGGGCT	0.662000														74			48		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2033485	2033485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:2033485C>T	uc003wpx.4	+	13	1745	c.1607C>T	c.(1606-1608)cCc>cTc	p.P536L	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	536	Fibronectin type-III 2.				muscle contraction	myosin filament	structural constituent of muscle	p.P536L(2)		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)		CCACCCACTCCCCGTGGCAAG	0.587000														54			15		0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113181779	113181779	+	Missense_Mutation	SNP	G	A	A	rs141265299		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:113181779G>A	uc001vse.1	-	11	1542	c.1355C>T	c.(1354-1356)cCa>cTa	p.P452L	TUBGCP3_uc010tjq.1_Missense_Mutation_p.P442L|TUBGCP3_uc001vsf.3_Missense_Mutation_p.P452L	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	452					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TTTAACTGTTGGATCTGATGC	0.378000														93			143		0	0	1	0	0
CDS1	1040	broad.mit.edu	37	4	85564253	85564253	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:85564253G>A	uc011ccv.2	+	10	1607	c.1109G>A	c.(1108-1110)gGa>gAa	p.G370E	CDS1_uc010ike.1_Intron	NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	370					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		GGCCCATTTGGAGGCTTCTTT	0.388000														103			44		0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40776902	40776902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:40776902C>T	uc003gvj.4	+	5	1255	c.760C>T	c.(760-762)Cca>Tca	p.P254S	NSUN7_uc003gvh.2_Missense_Mutation_p.P254S|NSUN7_uc003gvi.4_Missense_Mutation_p.P254S	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CTTAATTTTTCCATCTCATCT	0.264000														49			23		0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117311214	117311214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:117311214C>T	uc001egu.4	+	4	894	c.865C>T	c.(865-867)Cgt>Tgt	p.R289C		NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	289	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)	ACCTGGTCATCGTTCCCAGGC	0.587000														82			76		0	0	1	0	0
IFNB1	3456	broad.mit.edu	37	9	21077760	21077760	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:21077760G>A	uc003zok.3	-	0	184	c.109C>T	c.(109-111)Cag>Tag	p.Q37*		NM_002176	NP_002167	P01574	IFNB_HUMAN	Homo sapiens interferon, beta 1, fibroblast (IFNB1), mRNA.	37					B cell proliferation|activation of caspase activity|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of cell proliferation|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity	p.Q37K(2)|p.F36S(1)		breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	TTCTGACACTGAAAATTGCTG	0.468000														39			16		0	0	1	0	0
C9orf3	84909	broad.mit.edu	37	9	97730049	97730049	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:97730049C>T	uc004ava.3	+	8	2017	c.1882C>T	c.(1882-1884)Caa>Taa	p.Q628*	C9orf3_uc004auy.3_Nonsense_Mutation_p.Q529*|C9orf3_uc004auz.1_Nonsense_Mutation_p.Q529*	NM_001193329	NP_001180258	Q8N6M6	AMPO_HUMAN	Homo sapiens chromosome 9 open reading frame 3 (C9orf3), transcript variant 1, mRNA.	628					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.P627P(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GGATTTCCTTCAAATGCTACT	0.378000														71			20		0	0	1	0	0
PPP2R3B	28227	broad.mit.edu	37	X	302650	302650	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:302650C>T	uc004cpg.3	-	7	1317	c.1053G>A	c.(1051-1053)atG>atA	p.M351I	PPP2R3B_uc004cpf.3_5'Flank	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', beta (PPP2R3B), mRNA.	351					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		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)				TCCTGTCTATCATCTTGGTAG	0.647000														113			68		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13845060	13845060	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13845060G>A	uc003jfd.2	-	31	5199	c.5157C>T	c.(5155-5157)ttC>ttT	p.F1719F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1719	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)					GATCTGAGACGAAGAAAAACC	0.448000									Kartagener syndrome					65			29		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161006102	161006102	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:161006102C>T	uc003qtl.3	-	26	4385	c.4265G>A	c.(4264-4266)aGg>aAg	p.R1422K		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3930	Kringle 13.				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	p.R1422S(1)|p.R1421R(1)		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)	TAATGGGATCCTCCGATGCCA	0.443000														100			49		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632399	156632399	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:156632399C>T	uc003iov.3	+	6	1618	c.1082C>T	c.(1081-1083)tCa>tTa	p.S361L	GUCY1A3_uc003iou.2_Missense_Mutation_p.S361L|GUCY1A3_uc010iqc.2_Missense_Mutation_p.S361L|GUCY1A3_uc010iqd.3_Missense_Mutation_p.S360L|GUCY1A3_uc003iow.3_Missense_Mutation_p.S361L|GUCY1A3_uc003iox.3_Missense_Mutation_p.S361L|GUCY1A3_uc010iqe.3_Missense_Mutation_p.S126L|GUCY1A3_uc003ioy.3_Missense_Mutation_p.S361L|GUCY1A3_uc003ioz.3_Missense_Mutation_p.S126L|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.S361L	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	361					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AAAAAATCTTCAAGGGTAAGG	0.338000														57			5		0	0	1	0	0
TERF1	7013	broad.mit.edu	37	8	73921227	73921227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:73921227G>A	uc003xzd.2	+	0	131	c.106G>A	c.(106-108)Gag>Aag	p.E36K	TERF1_uc003xzc.2_Non-coding_Transcript|TERF1_uc003xze.2_Missense_Mutation_p.E36K	NM_017489	NP_059523	P54274	TERF1_HUMAN	Homo sapiens telomeric repeat binding factor (NIMA-interacting) 1 (TERF1), transcript variant 1, mRNA.	36	Asp/Glu-rich (acidic).				G2/M transition of mitotic cell cycle|age-dependent telomere shortening|cell division|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	DNA bending activity|caspase activator activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GAGAAACGACGAGGAGCAGTT	0.662000														32			13		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173074	51173074	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:51173074T>C	uc021tif.1	-	1	3090	c.2768A>G	c.(2767-2769)tAt>tGt	p.Y923C	SALL1_uc021tid.1_Missense_Mutation_p.Y923C|SALL1_uc021tie.1_Missense_Mutation_p.Y1020C|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1020					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)			ATGACTTCTATAGTGAATGTC	0.413000														110			57		0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159923181	159923181	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:159923181C>T	uc001fus.3	-	1	426	c.309G>A	c.(307-309)gaG>gaA	p.E103E	SLAMF9_uc009wtd.3_Silent_p.E103E|SLAMF9_uc001fut.3_Intron	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	Homo sapiens SLAM family member 9 (SLAMF9), transcript variant 1, mRNA.	103						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCCTGAATCCTCCCAGCTCA	0.502000														128			51		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131520927	131520927	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:131520927G>A	uc021voy.1	+	0	1282	c.1282G>A	c.(1282-1284)Gac>Aac	p.D428N	FAM123C_uc002trw.2_Missense_Mutation_p.D428N|FAM123C_uc010fmv.2_Missense_Mutation_p.D428N|FAM123C_uc010fms.1_Missense_Mutation_p.D428N|FAM123C_uc010fmt.1_Missense_Mutation_p.D428N|FAM123C_uc010fmu.1_Missense_Mutation_p.D428N	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	428										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GCTCTTCCACGACCCCAGCGA	0.637000														91			42		0	0	1	0	0
ING2	3622	broad.mit.edu	37	4	184431602	184431602	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:184431602C>T	uc003ivs.1	+	1	469	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	ING2_uc011ckk.1_Missense_Mutation_p.R74W	NM_001564	NP_001555	Q9H160	ING2_HUMAN	Homo sapiens inhibitor of growth family, member 2 (ING2), mRNA.	114					chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	DNA binding|chromatin binding|protein complex binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GGTGGAAAATCGGGCAAGACA	0.418000														166			23		0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100963295	100963295	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:100963295G>A	uc003duq.2	-	12	2083	c.1880C>T	c.(1879-1881)cCa>cTa	p.P627L	IMPG2_uc011bhe.2_Missense_Mutation_p.P490L	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	627					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						CTTGGACAGTGGTTCAGCGCT	0.438000														72			69		0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31117622	31117622	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:31117622G>A	uc003tca.2	+	3	463	c.174G>A	c.(172-174)tgG>tgA	p.W58*	ADCYAP1R1_uc003tcg.3_Nonsense_Mutation_p.W58*|ADCYAP1R1_uc003tce.2_Nonsense_Mutation_p.W58*|ADCYAP1R1_uc003tcb.2_Nonsense_Mutation_p.W58*|ADCYAP1R1_uc003tcc.2_Nonsense_Mutation_p.W58*	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	58					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CTGGGATGTGGGACAACATCA	0.567000														89			18		0	0	1	0	0
SREBF1	6720	broad.mit.edu	37	17	17719285	17719285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:17719285G>A	uc002gru.2	-	11	2466	c.2272C>T	c.(2272-2274)Cct>Tct	p.P758S	SREBF1_uc002grp.2_Missense_Mutation_p.P377S|SREBF1_uc002grq.2_Missense_Mutation_p.P277S|SREBF1_uc002grr.2_Missense_Mutation_p.P504S|SREBF1_uc002grs.2_Missense_Mutation_p.P734S|SREBF1_uc002grt.2_Missense_Mutation_p.P788S|MIR33B_uc021trh.1_5'Flank	NM_004176	NP_004167	P36956	SRBP1_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA.	758					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TGCATGGCAGGAGGCACTGAG	0.647000														53			35		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20591313	20591313	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:20591313C>A	uc003gpr.1	+	29	3339	c.3135C>A	c.(3133-3135)aaC>aaA	p.N1045K	SLIT2_uc003gps.1_Missense_Mutation_p.N1037K	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1045	EGF-like 4.				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						AGGACCTGAACCCCTGCCAGC	0.488000														35			10		0.0809354	0.0811576	1	1	0
HPSE	10855	broad.mit.edu	37	4	84234441	84234441	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:84234441C>T	uc003hoj.4	-	4	599	c.500_splice	c.e4-1	p.R167_splice	HPSE_uc003hoi.3_Intron|HPSE_uc011ccq.2_Splice_Site|HPSE_uc011ccr.2_Splice_Site|HPSE_uc011ccs.2_Intron|HPSE_uc003hok.4_Splice_Site_p.R167_splice|HPSE_uc011cct.2_Splice_Site_p.R167_splice	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	167					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	ACAGAGCTTCCTAAAAGAAAA	0.378000														46			25		0	0	1	0	0
C3orf24	115795	broad.mit.edu	37	3	10146326	10146326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:10146326C>T	uc003buz.3	-	1	358	c.133G>A	c.(133-135)Gac>Aac	p.D45N	C3orf24_uc003bva.2_Missense_Mutation_p.D45N|C3orf24_uc021wsy.1_Missense_Mutation_p.D45N	NM_173472	NP_775743	Q96PS1	CC024_HUMAN	Homo sapiens chromosome 3 open reading frame 24 (C3orf24), transcript variant 1, mRNA.	45										endometrium(1)|large_intestine(2)|lung(3)	6				OV - Ovarian serous cystadenocarcinoma(96;0.196)		ACTTCAAGGTCGGACGGTGTG	0.557000														128			95		0	0	1	0	0
INSL6	11172	broad.mit.edu	37	9	5185587	5185587	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:5185587G>A	uc003zix.3	-	0	32	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	Homo sapiens insulin-like 6 (INSL6), mRNA.	6						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		AGGGACAAGCGGAGGAGCCGC	0.647000														21			17		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51215336	51215336	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:51215336C>T	uc002psx.1	-	5	847	c.828G>A	c.(826-828)aaG>aaA	p.K276K		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	276					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCCGACGGTCCTTGTAGTTGG	0.592000														68			39		0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25932559	25932559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:25932559C>T	uc010crg.3	+	14	1811	c.1366C>T	c.(1366-1368)Cgc>Tgc	p.R456C	KSR1_uc002gzj.1_Non-coding_Transcript|KSR1_uc002gzm.3_Missense_Mutation_p.R236C	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	592					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.T455T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCCCATCTCTCGCAAGGCCAG	0.687000														11			7		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158617436	158617436	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:158617436C>T	uc001fst.1	-	26	3988	c.3789G>A	c.(3787-3789)caG>caA	p.Q1263Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1263					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCTCCATTTTCTGTCTCTGCA	0.537000														69			26		0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100552243	100552243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100552243C>T	uc003uxl.1	+	0	1494	c.694C>T	c.(694-696)Cct>Tct	p.P232S	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TACCATAGTCCCTGCCTCTCC	0.478000														702			92		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151874091	151874091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:151874091G>A	uc003wla.3	-	37	8666	c.8447C>T	c.(8446-8448)tCc>tTc	p.S2816F	MLL3_uc003wkz.3_Missense_Mutation_p.S1877F|MLL3_uc003wky.3_Missense_Mutation_p.S325F	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2816					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)		GGTAACAGTGGATTTTTTCTG	0.323000			N		medulloblastoma									103			46		0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53153976	53153976	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:53153976G>A	uc003dgj.3	-	5	674	c.620C>T	c.(619-621)tCc>tTc	p.S207F		NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	Homo sapiens RFT1 homolog (S. cerevisiae) (RFT1), mRNA.	207					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		TGATTCTGGGGAACCCAGTAA	0.328000														120			37		0	0	1	0	0
STK38	11329	broad.mit.edu	37	6	36483160	36483160	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:36483160G>A	uc003omg.3	-	5	1212	c.624C>T	c.(622-624)ttC>ttT	p.F208F	STK38_uc003omh.3_Silent_p.F208F|STK38_uc003omi.3_Silent_p.F208F	NM_007271	NP_009202	Q15208	STK38_HUMAN	Homo sapiens serine/threonine kinase 38 (STK38), mRNA.	208	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	MLL5-L complex|cytoplasm	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCTGTGGATGAATCCAAGTT	0.428000														103			50		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6128845	6128845	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:6128845G>A	uc001qnn.1	-	27	3989	c.3739C>T	c.(3739-3741)Ccc>Tcc	p.P1247S	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1247					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)	GCATCTGTGGGAGGCACCACC	0.567000														45			19		0	0	1	0	0
EDARADD	128178	broad.mit.edu	37	1	236572530	236572530	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:236572530G>A	uc001hxu.1	+	1	141	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	EDARADD_uc001hxv.1_Missense_Mutation_p.E16K	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	Homo sapiens EDAR-associated death domain (EDARADD), transcript variant A, mRNA.	26					cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TATGGTAAAGGAACCAGTGGA	0.323000														97			41		0	0	1	0	0
SPEM1	374768	broad.mit.edu	37	17	7324589	7324589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:7324589G>A	uc002ggv.3	+	2	620	c.595G>A	c.(595-597)Ggc>Agc	p.G199S	SPEM1_uc010vtw.1_Intron	NM_199339	NP_955371	Q8N4L4	SPEM1_HUMAN	Homo sapiens spermatid maturation 1 (SPEM1), mRNA.	199					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane		p.G199S(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				GTCCGAGCTGGGCCTAAGGGC	0.637000														62			37		0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57353899	57353899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:57353899C>T	uc003xsz.2	-	1	817	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	PENK_uc003xta.3_Missense_Mutation_p.E246K	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	246					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)			CTTTCGCCTTCTTCGTCGGAG	0.493000														147			93		0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88410017	88410017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:88410017C>T	uc002ssr.3	+	9	1544	c.1459C>T	c.(1459-1461)Cac>Tac	p.H487Y	SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_Missense_Mutation_p.H183Y	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGCTCTGTTCCACAAGAAGCA	0.592000														11			5		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929407	121929407	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:121929407C>T	uc004bkc.2	-	7	2697	c.2241G>A	c.(2239-2241)acG>acA	p.T747T		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	747					cell cycle arrest|cell death	cytoplasm	protein binding	p.T747T(4)		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						TGAGGATCTCCGTGTTGTACA	0.512000														286			107		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515737	140515737	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140515737G>A	uc003liq.3	+	0	938	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	241	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)			CAACGCCCCCGAATTTTTACA	0.517000														287			183		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063611	9063611	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9063611C>T	uc002mkp.3	-	2	24039	c.23835G>A	c.(23833-23835)caG>caA	p.Q7945Q		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7947	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						GAGTGCTCATCTGTGAGTGTG	0.468000														76			30		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131912304	131912304	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:131912304C>T	uc003vra.4	-	6	2017	c.1788G>A	c.(1786-1788)gaG>gaA	p.E596E		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	596						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						CTGACAGGTCCTCAAAGGTGC	0.597000														59			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179514906	179514906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179514906C>T	uc021vsy.1	-	163	32725	c.32500G>A	c.(32500-32502)Gtt>Att	p.V10834I	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_Non-coding_Transcript|TTN_uc002umx.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11761	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)			GGAGGTGGAACCTCTGGTTCC	0.408000														3			4		0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47850127	47850127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:47850127C>T	uc002xuh.3	+	10	1308	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	416	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCTTCTGTCTCCTTGAAGAAT	0.542000														249			102		0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433935	72433935	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:72433935C>T	uc004ebi.3	-	0	776	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	132					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCATGAAATTCCCTCAGGAAT	0.383000														112			64		0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46252529	46252529	+	Silent	SNP	G	A	A	rs143219761		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:46252529G>A	uc011bzc.1	-	9	1579	c.1167C>T	c.(1165-1167)ctC>ctT	p.L389L	GABRA2_uc003gxc.3_Silent_p.L384L|GABRA2_uc010igc.2_Silent_p.L384L			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	389					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGATGGTGGAGAGAACTGGAT	0.423000														60			28		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95728818	95728818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:95728818C>T	uc003kls.2	-	13	2388	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K	PCSK1_uc010jbi.2_Missense_Mutation_p.E407K|PCSK1_uc021ybq.1_Missense_Mutation_p.E670K	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	717					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)	AGACTGTCTTCAGAGTCTTTA	0.423000														126			67		0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24893016	24893016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:24893016G>A	uc001upj.3	+	2	288	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	SPATA13_uc001upe.3_Non-coding_Transcript	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA.	76	Collagen-like 1.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		AAGGGAGAACGAGGTTAGTAG	0.453000														160			30		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3888048	3888048	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:3888048C>T	uc003bpt.4	+	1	2484	c.1723C>T	c.(1723-1725)Cca>Tca	p.P575S	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.P575S	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	575	Fibronectin type-III.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TGCCAGGGTCCCAGTCGATGT	0.433000														288			81		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475497	140475497	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140475497C>T	uc003lil.3	+	0	1261	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S	PCDHB2_uc003lim.1_Missense_Mutation_p.P36S	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	375	Cadherin 4.				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)			CGTTTCAGATCCTGACTCCGG	0.433000														39			27		0	0	1	0	0
BSX	390259	broad.mit.edu	37	11	122850164	122850164	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:122850164C>T	uc010rzs.2	-	2	263	c.263_splice	c.e2-1	p.G88_splice		NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN	Homo sapiens brain-specific homeobox (BSX), mRNA.	88										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GGACTGGCATCCCTGCAGAGA	0.687000														43			28		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70926384	70926384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:70926384C>T	uc002ezr.3	-	55	9445	c.9294G>A	c.(9292-9294)atG>atA	p.M3098I		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3099										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)				GGACTGAGATCATGGAATTTA	0.423000														62			11		0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248344012	248344012	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:248344012C>T	uc010pzf.2	+	0	725	c.725C>T	c.(724-726)tCc>tTc	p.S242F		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACGACCTGTTCCTCTCACCTC	0.493000														175			61		0	0	1	0	0
SNORD114-6	767582	broad.mit.edu	37	14	101423559	101423559	+	RNA	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:101423559G>A	uc001yiw.3	+	0		c.57G>A								Homo sapiens small nucleolar RNA, C/D box 114-6 (SNORD114-6), small nucleolar RNA.																		TATATGTCTGGAACTCTGAGG	0.333000														30			5		0	0	1	0	0
PLA2G2E	30814	broad.mit.edu	37	1	20248809	20248809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:20248809C>T	uc001bct.1	-	2	326	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K		NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN	Homo sapiens phospholipase A2, group IIE (PLA2G2E), mRNA.	90					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|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)		ATGCCACGTTCGCTGACAGAG	0.577000														65			30		0	0	1	0	0
CD48	962	broad.mit.edu	37	1	160681539	160681539	+	Silent	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:160681539A>G	uc001fwo.1	-	0	47	c.15T>C	c.(13-15)ggT>ggC	p.G5G	CD48_uc001fwn.3_Silent_p.G5G|CD48_uc001fwp.3_Silent_p.G5G	NM_001778	NP_001769	P09326	CD48_HUMAN	Homo sapiens CD48 molecule (CD48), transcript variant 1, mRNA.	5					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACGAATCCCAACCTCTGGAGC	0.512000														39			9		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401601	77401601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:77401601C>T	uc002ffc.4	-	3	934	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	172					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R172Q(2)|p.R172G(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCATTTTTTCGTGTCCTTAT	0.463000														66			15		0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171251360	171251360	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:171251360C>T	uc009wvz.3	+	6	1207	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	FMO1_uc010pme.2_Silent_p.F294F|FMO1_uc001ghl.3_Silent_p.F357F|FMO1_uc001ghm.3_Silent_p.F357F	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	357					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)					AGTATATCTTCCCTGCACATC	0.483000														75			47		0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6023558	6023558	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:6023558G>A	uc010qzv.2	-	0	821	c.821C>T	c.(820-822)tCt>tTt	p.S274F		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S274Y(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATATAAAAGAATAGGAGAT	0.463000														46			6		0	0	1	0	0
UPF3B	65109	broad.mit.edu	37	X	118968933	118968933	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:118968933G>A	uc004erz.2	-	10	1460	c.1360C>T	c.(1360-1362)Ccc>Tcc	p.P454S	UPF3B_uc004esa.2_Missense_Mutation_p.P441S	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B), transcript variant 1, mRNA.	454	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TCATCAGGGGGACAGAGTCGA	0.458000														148			110		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13366061	13366061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:13366061C>T	uc002mwy.3	-	28	4839	c.4603G>A	c.(4603-4605)Gat>Aat	p.D1535N	CACNA1A_uc002mwx.3_Missense_Mutation_p.D241N|CACNA1A_uc010dzc.2_Missense_Mutation_p.D1061N|CACNA1A_uc010xnd.2_Missense_Mutation_p.D1538N|CACNA1A_uc021ups.1_Missense_Mutation_p.D1535N|CACNA1A_uc010xne.2_Missense_Mutation_p.D1538N|CACNA1A_uc010dze.2_Missense_Mutation_p.D1535N|CACNA1A_uc021upt.1_Missense_Mutation_p.D1536N|CACNA1A_uc002mwv.3_Missense_Mutation_p.D52N	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1536					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ATGGCGAAATCAATGCAGGCC	0.617000														10			6		0	0	1	0	0
CNR2	1269	broad.mit.edu	37	1	24201076	24201076	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:24201076C>T	uc021oij.1	-	0	1032	c.1032G>A	c.(1030-1032)ggG>ggA	p.G344G	CNR2_uc001bif.3_Silent_p.G344G	NM_001841	NP_001832	P34972	CNR2_HUMAN	Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.	344					G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	GAGTGATTTTCCCATCAGCCT	0.507000														130			43		0	0	1	0	0
SMARCD2	6603	broad.mit.edu	37	17	61910669	61910669	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:61910669G>C	uc010deb.1	-	10	1746	c.1429C>G	c.(1429-1431)Cga>Gga	p.R477G	SMARCD2_uc010wpt.1_Missense_Mutation_p.R429G|SMARCD2_uc010dea.1_Missense_Mutation_p.R402G	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 (SMARCD2), mRNA.	477					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TTGAGGTCTCGGCGCTGGGAA	0.542000														75			24		0	0	1	0	0
SULT4A1	25830	broad.mit.edu	37	22	44229612	44229612	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:44229612C>T	uc003bee.1	-	4	627	c.511G>A	c.(511-513)Ggc>Agc	p.G171S	SULT4A1_uc003bed.1_Missense_Mutation_p.G92S|SULT4A1_uc003bef.1_Non-coding_Transcript|SULT4A1_uc011aqb.1_Missense_Mutation_p.G58S	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN	Homo sapiens sulfotransferase family 4A, member 1 (SULT4A1), mRNA.	171					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)		GAGCCGTAGCCCACTGCGGAG	0.627000														12			10		0	0	1	0	0
IKZF4	64375	broad.mit.edu	37	12	56428559	56428559	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:56428559C>T	uc001sjb.1	+	8	1361	c.1202C>T	c.(1201-1203)tCt>tTt	p.S401F	IKZF4_uc010sqa.1_Missense_Mutation_p.S354F|IKZF4_uc001sjc.1_Missense_Mutation_p.S401F|IKZF4_uc001sjd.1_Missense_Mutation_p.S299F|IKZF4_uc009zoi.1_Missense_Mutation_p.S356F|IKZF4_uc001sje.1_Missense_Mutation_p.S360F	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	Homo sapiens IKAROS family zinc finger 4 (Eos) (IKZF4), mRNA.	401					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTCATCAGCTCTGTCTACACC	0.607000														101			29		0	0	1	0	0
WFDC1	58189	broad.mit.edu	37	16	84360501	84360501	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:84360501G>A	uc002fhv.3	+	5	795	c.618G>A	c.(616-618)aaG>aaA	p.K206K	WFDC1_uc002fhw.3_Silent_p.K206K	NM_021197	NP_067020	Q9HC57	WFDC1_HUMAN	Homo sapiens WAP four-disulfide core domain 1 (WFDC1), mRNA.	206					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						GTGACTCAAAGAATGTGGCAG	0.502000														121			13		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55973765	55973765	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:55973765C>T	uc010qhy.1	-	10	1439	c.1044G>A	c.(1042-1044)agG>agA	p.R348R	PCDH15_uc010qhq.2_Silent_p.R348R|PCDH15_uc010qhr.2_Silent_p.R343R|PCDH15_uc021pqv.1_Silent_p.R343R|PCDH15_uc021pqw.1_Silent_p.R348R|PCDH15_uc010qht.2_Silent_p.R343R|PCDH15_uc021pqx.1_Silent_p.R343R|PCDH15_uc001jjv.1_Silent_p.R321R|PCDH15_uc021pqy.1_Silent_p.R343R|PCDH15_uc021pqz.1_Silent_p.R321R|PCDH15_uc010qhv.1_Silent_p.R343R|PCDH15_uc010qhw.1_Silent_p.R306R|PCDH15_uc010qhx.1_Silent_p.R343R|PCDH15_uc010qhz.1_Silent_p.R343R|PCDH15_uc010qia.1_Silent_p.R321R|PCDH15_uc001jju.1_Silent_p.R343R|PCDH15_uc010qib.1_Silent_p.R321R|PCDH15_uc001jjw.3_Silent_p.R343R	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	343	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.L347R(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTCTGCTGTCCTAGGATGCA	0.363000										HNSCC(58;0.16)				58			26		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969394	140969394	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:140969394C>T	uc011mwp.2	+	3	721	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	241	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCATTTCCCTGACAGAAGT	0.478000														102			81		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110442180	110442180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:110442180G>A	uc003yne.3	+	26	3247	c.3143G>A	c.(3142-3144)gGa>gAa	p.G1048E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1048					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.G1050>?(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)			TATGTCAATGGAATTCCAGCT	0.398000										HNSCC(38;0.096)				36			6		0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13588040	13588040	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:13588040C>T	uc004cvj.3	+	0	347	c.60C>T	c.(58-60)ttC>ttT	p.F20F	EGFL6_uc004cvi.3_Silent_p.F20F|EGFL6_uc011mik.1_Intron	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	20					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CAGGTGGTTTCGGGAACGCGG	0.692000														43			25		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33628096	33628096	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:33628096C>T	uc001uus.3	+	1	1020	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S	KL_uc001uur.1_Missense_Mutation_p.P31S	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	338	Glycosyl hydrolase-1 1.				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.Y337S(1)		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)		TGGTGACTATCCCGAGAGCAT	0.393000														113			88		0	0	1	0	0
TOM1	10043	broad.mit.edu	37	22	35728996	35728996	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:35728996C>T	uc003ann.3	+	8	1047	c.922C>T	c.(922-924)Cag>Tag	p.Q308*	TOM1_uc011ami.2_Nonsense_Mutation_p.Q275*|TOM1_uc003anp.3_Nonsense_Mutation_p.Q308*|TOM1_uc011aml.2_Nonsense_Mutation_p.Q263*|TOM1_uc011amk.2_Nonsense_Mutation_p.Q270*|TOM1_uc003ano.3_Non-coding_Transcript|TOM1_uc011amj.2_Nonsense_Mutation_p.Q151*|MIR3909_uc021woj.1_5'Flank	NM_005488	NP_005479	O60784	TOM1_HUMAN	Homo sapiens target of myb1 (chicken) (TOM1), transcript variant 1, mRNA.	308					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CCGAACAGGCCAGACCACCAA	0.507000														238			89		0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201869499	201869499	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:201869499C>T	uc021phl.1	-	1	890	c.642G>A	c.(640-642)gtG>gtA	p.V214V	LMOD1_uc021phm.1_Silent_p.V214V|LMOD1_uc010ppu.2_Silent_p.V163V	NM_012134	NP_036266	P29536	LMOD1_HUMAN	Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA.	214	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						ctttcttggccacctccttca	0.502000														14			6		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956034	18956034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:18956034G>A	uc001mpg.3	-	0	516	c.298C>T	c.(298-300)Cct>Tct	p.P100S		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	100					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATCATCACAGGATAGAGGATT	0.537000														284			68		0	0	1	0	0
DCAF8	50717	broad.mit.edu	37	1	160252837	160252837	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:160252837G>A	uc001fvs.2	-	2	270	c.243C>T	c.(241-243)tcC>tcT	p.S81S	DCAF8_uc010pjc.1_5'UTR|DCAF8_uc021pbq.1_Silent_p.S81S|DCAF8_uc010pje.1_Non-coding_Transcript|DCAF8_uc001fvt.2_5'UTR	NM_002857	NP_002848	Q5TAQ9	DCAF8_HUMAN	Homo sapiens peroxisomal biogenesis factor 19 (PEX19), transcript variant 1, mRNA.	0						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						CAGTGGCTTGGGAAGCCAGTT	0.537000														123			37		0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116548728	116548728	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:116548728A>T	uc002tle.3	+	17	1636	c.1615A>T	c.(1615-1617)Att>Ttt	p.I539F	DPP10_uc002tla.2_Missense_Mutation_p.I535F|DPP10_uc002tlb.2_Missense_Mutation_p.I485F|DPP10_uc002tlc.2_Missense_Mutation_p.I531F|DPP10_uc002tlf.2_Missense_Mutation_p.I528F	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	535					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAAGCCAGAAATTAAAATCCT	0.328000														86			42		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57829649	57829649	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:57829649C>T	uc002yan.3	+	4	4885	c.4885C>T	c.(4885-4887)Cct>Tct	p.P1629S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1629						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)					TTCTGTGGTTCCTTCTAAGCC	0.478000														51			17		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8769290	8769290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:8769290G>A	uc002wnb.3	+	28	3202	c.3199G>A	c.(3199-3201)Gaa>Aaa	p.E1067K	PLCB1_uc002wna.3_Missense_Mutation_p.E1067K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	1067					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGAAAAGAAAGAATTAAAGAA	0.343000														18			7		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189932971	189932971	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:189932971G>A	uc002uqk.3	-	19	1558	c.1283C>T	c.(1282-1284)cCt>cTt	p.P428L	COL5A2_uc010frx.3_Intron	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	428					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)			TTTGGCACCAGGAGTACCATC	0.408000														71			35		0	0	1	0	0
GSTA5	221357	broad.mit.edu	37	6	52698975	52698975	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:52698975C>T	uc003pba.1	-	4	448	c.378G>A	c.(376-378)gaG>gaA	p.E126E		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	Homo sapiens glutathione S-transferase alpha 5 (GSTA5), mRNA.	126	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.E126D(2)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TTTTTATTTTCTCTTTGACCA	0.388000														354			106		0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35900499	35900499	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:35900499G>A	uc002hoa.3	-	15	3432	c.3349C>T	c.(3349-3351)Ctg>Ttg	p.L1117L	SYNRG_uc010wde.2_Silent_p.L1039L|SYNRG_uc010wdf.2_Silent_p.L1039L|SYNRG_uc002hoc.3_Silent_p.L1038L|SYNRG_uc002hoe.3_Silent_p.L1039L|SYNRG_uc002hod.3_Silent_p.L994L|SYNRG_uc010wdg.2_Silent_p.L911L|SYNRG_uc002hob.3_Silent_p.L1117L	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	1117					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCTCCCGTCAGGTCTTTGTAC	0.537000														123			52		0	0	1	0	0
GABARAPL3	23766	broad.mit.edu	37	15	90892213	90892213	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:90892213C>T	uc010uqf.2	-	0		c.467G>A								Homo sapiens GABA(A) receptors associated protein like 3, pseudogene (GABARAPL3), non-coding RNA.																		AAGGCGTCCTCAGGTCTCAGG	0.488000														81			29		0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88911834	88911834	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:88911834G>A	uc001pcs.3	+	0	795	c.713G>A	c.(712-714)tGg>tAg	p.W238*		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	238					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)	TATTGGGACTGGCGGGATGCA	0.473000														55			53		0	0	1	0	0
CC2D2A	57545	broad.mit.edu	37	4	15529154	15529154	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:15529154G>A	uc010idv.2	+	12	1479	c.1234G>A	c.(1234-1236)Ggg>Agg	p.G412R	CC2D2A_uc003gnx.3_Missense_Mutation_p.G363R|CC2D2A_uc003gnv.2_Missense_Mutation_p.G412R	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2A (CC2D2A), transcript variant 1, mRNA.	412					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TGATATTTCAGGGTTAATCTT	0.458000														22			14		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169483583	169483583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:169483583G>A	uc001ggg.1	-	24	6788	c.6643C>T	c.(6643-6645)Cgc>Tgc	p.R2215C		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	2215	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.L2214P(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGTTCCAGGCGAAGTGCAATA	0.383000														35			19		0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81381563	81381563	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:81381563G>A	uc003uhl.3	-	4	663	c.498C>T	c.(496-498)agC>agT	p.S166S	HGF_uc003uhm.3_Splice_Site_p.S161_splice|HGF_uc003uhn.1_Silent_p.S166S|HGF_uc003uho.1_Splice_Site_p.S161_splice|HGF_uc003uhp.3_Silent_p.S166S	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	166	Kringle 1.				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	p.S166I(1)		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						TACCCCGATAGCTCGAAGGCA	0.398000														59			16		0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49963310	49963310	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:49963310C>T	uc004dow.1	-	1	245	c.121G>A	c.(121-123)Gtg>Atg	p.V41M	AKAP4_uc004dou.1_Missense_Mutation_p.V32M|AKAP4_uc004dov.1_Missense_Mutation_p.V32M|AKAP4_uc010njp.1_5'UTR	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	41					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TATCTTACCACTTTCCGGTCC	0.453000														27			11		0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141051140	141051140	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:141051140G>A	uc003llm.3	-	11	1929	c.1851C>T	c.(1849-1851)ctC>ctT	p.L617L	ARAP3_uc011dbe.2_Silent_p.L279L|ARAP3_uc003lln.3_Silent_p.L539L	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	617					cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTCCTACCTGGAGAAGCTGGC	0.592000														43			28		0	0	1	0	0
HLA-J	3137	broad.mit.edu	37	6	29976931	29976931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:29976931G>A	uc003rtl.4	+	2	621	c.259G>A	c.(259-261)Gag>Aag	p.E87K	HLA-G_uc021ytw.1_Non-coding_Transcript|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|ZNRD1-AS1_uc011dme.2_Intron|HLA-J_uc003nou.4_Non-coding_Transcript|HLA-J_uc003nov.4_Non-coding_Transcript					Homo sapiens major histocompatibility complex, class I, J (pseudogene) (HLA-J), non-coding RNA.																		GATAGAAAAGGAGGGAGCTAC	0.547000														118			55		0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92445249	92445249	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:92445249G>A	uc001dol.4	+	8	1640	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	BRDT_uc010osz.2_Missense_Mutation_p.E412K|BRDT_uc001dok.4_Missense_Mutation_p.E408K|BRDT_uc009wdf.3_Missense_Mutation_p.E335K|BRDT_uc010otb.2_Missense_Mutation_p.E362K|BRDT_uc010ota.2_Missense_Mutation_p.E362K|BRDT_uc001dom.4_Missense_Mutation_p.E408K	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AGCCTCCTCTGAAGGGAACTC	0.393000														241			57		0	0	1	0	0
GPR26	2849	broad.mit.edu	37	10	125426514	125426514	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:125426514G>A	uc001lhh.3	+	0	644	c.591G>A	c.(589-591)aaG>aaA	p.K197K		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	Homo sapiens G protein-coupled receptor 26 (GPR26), mRNA.	197					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				AGGTGCTCAAGGTGGCCCGCT	0.632000														8			12		0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100986371	100986371	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:100986371G>A	uc003duq.2	-	8	1095	c.892C>T	c.(892-894)Ccc>Tcc	p.P298S	IMPG2_uc011bhe.2_Missense_Mutation_p.P161S	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	298	SEA 1.				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						TTTTCCTTGGGGGACCTGAAA	0.363000														96			23		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95757603	95757603	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:95757603C>T	uc003kls.2	-	4	840	c.601G>A	c.(601-603)Gat>Aat	p.D201N	PCSK1_uc021ybq.1_Missense_Mutation_p.D154N	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	201	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	p.D201N(2)		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)	TTTGTGGGATCATATCGGGGA	0.318000														83			40		0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107568612	107568612	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:107568612G>A	uc004bcl.3	-	30	4778	c.4374C>T	c.(4372-4374)aaC>aaT	p.N1458N		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	1458					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGGTGAAGGGTTCTGCATTG	0.592000														58			27		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39226003	39226003	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:39226003C>T	uc003cjk.2	-	1	5163	c.4934G>A	c.(4933-4935)aGg>aAg	p.R1645K	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.R328K|XIRP1_uc021wvz.1_Missense_Mutation_p.R1645K	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1645							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTCCTGCCTCCTGGTGGAAGG	0.542000														200			57		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39644532	39644532	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:39644532C>T	uc003xnj.3	-	9	927	c.852G>A	c.(850-852)ggG>ggA	p.G284G	ADAM2_uc003xnk.3_Silent_p.G265G|ADAM2_uc011lck.2_Silent_p.G284G|ADAM2_uc003xnl.3_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	284	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)		CACACATCTTCCCTTGAAAGG	0.294000														34			7		0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133467361	133467361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:133467361C>T	uc003epu.2	+	6	1877	c.149C>T	c.(148-150)cCa>cTa	p.P50L	TF_uc011bls.1_Missense_Mutation_p.P50L|TF_uc011blt.2_Intron|TF_uc003epw.2_Intron|TF_uc003epv.2_Missense_Mutation_p.P50L	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	50	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)	AGCGTCATTCCATCCGATGGT	0.512000														105			30		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9376218	9376218	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:9376218C>T	uc021wam.1	+	15	1478	c.1463C>T	c.(1462-1464)tCc>tTc	p.S488F	PLCB4_uc010gbw.1_Missense_Mutation_p.S488F|PLCB4_uc010gbx.3_Missense_Mutation_p.S488F|PLCB4_uc021wal.1_Missense_Mutation_p.S488F|PLCB4_uc002wnh.3_Missense_Mutation_p.S335F	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	488					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						GAATCTGCCTCCCCAGCAAAC	0.393000														64			21		0	0	1	0	0
GRK4	2868	broad.mit.edu	37	4	2994003	2994003	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:2994003G>A	uc003ggn.1	+	3	778	c.323G>A	c.(322-324)aGa>aAa	p.R108K	GRK4_uc003ggo.1_Missense_Mutation_p.R108K|GRK4_uc003ggp.1_Missense_Mutation_p.R76K|GRK4_uc003ggq.1_Missense_Mutation_p.R76K	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	108	N-terminal.|RGS.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATCTTAGATAGATTCTTCAAT	0.338000														51			8		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	659062	659062	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:659062G>A	uc001qii.1	+	9	981	c.981G>A	c.(979-981)cgG>cgA	p.R327R	B4GALNT3_uc001qij.1_Silent_p.R229R|B4GALNT3_uc001qik.1_5'Flank	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	327						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CTGACCCCCGGGACACCCTCT	0.642000														22			14		0	0	1	0	0
CRMP1	1400	broad.mit.edu	37	4	5851179	5851179	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:5851179G>A	uc003gis.3	-	5	992	c.903C>T	c.(901-903)ttC>ttT	p.F301F	CRMP1_uc003giq.3_Silent_p.F187F|CRMP1_uc003gir.3_Silent_p.F182F	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA.	187					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GGCCCTTAAGGAAGGTAAAGG	0.433000														54			35		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	15967683	15967683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:15967683C>T	uc010lsu.3	-	9	1385	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	MSR1_uc003wwz.3_Missense_Mutation_p.E423K|MSR1_uc003wxa.3_Missense_Mutation_p.E360K	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	423	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)		ATAGATGATTCTCTCCCAAAA	0.373000														75			16		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15990451	15990451	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:15990451C>T	uc002nbs.1	-	10	1327	c.1277G>A	c.(1276-1278)gGa>gAa	p.G426E	CYP4F2_uc010xot.1_Missense_Mutation_p.G277E	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	426					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GTGATGGGTTCCGAAAACACT	0.587000														424			84		0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78897296	78897296	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:78897296C>T	uc002jyt.1	+	22	3436	c.2631C>T	c.(2629-2631)tcC>tcT	p.S877S	RPTOR_uc010wug.1_Silent_p.S719S	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	877					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GCAGGGGCTCCCCTCCGGCGT	0.632000														79			12		0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91803600	91803600	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:91803600C>T	uc002bqv.3	+	6	1860	c.969C>T	c.(967-969)acC>acT	p.T323T	SV2B_uc002bqt.3_Silent_p.T323T|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Silent_p.T172T	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	323					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TCCATGACACCAACATGAGAG	0.473000														135			49		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14806713	14806713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:14806713C>T	uc003zlm.3	-	18	4036	c.3220G>A	c.(3220-3222)Gaa>Aaa	p.E1074K	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.	1074					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)		AGTATATTTTCGAGGTAGCCA	0.428000														22			6		0	0	1	0	0
ABHD2	11057	broad.mit.edu	37	15	89736470	89736470	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:89736470A>C	uc002bnj.2	+	13	1919	c.1001A>C	c.(1000-1002)tAt>tCt	p.Y334S	ABHD2_uc002bnk.2_Missense_Mutation_p.Y334S	NM_007011	NP_690888	P08910	ABHD2_HUMAN	Homo sapiens abhydrolase domain containing 2 (ABHD2), transcript variant 1, mRNA.	334						integral to membrane	carboxylesterase activity	p.Y334C(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTGCAGATTTATGTTCCTCTC	0.408000														89			44		0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92136429	92136429	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:92136429G>A	uc003uly.3	-	9	1778	c.1682C>T	c.(1681-1683)tCc>tTc	p.S561F	PEX1_uc011khr.2_Missense_Mutation_p.S353F|PEX1_uc010ley.3_Missense_Mutation_p.S561F|PEX1_uc011khs.2_Missense_Mutation_p.S239F|PEX1_uc011kht.1_Non-coding_Transcript	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	561					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	p.S561C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TACGCCTAAGGAATTCACTCC	0.428000														45			20		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38941544	38941544	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:38941544G>A	uc021yzh.1	+	83	12742	c.12633G>A	c.(12631-12633)tgG>tgA	p.W4211*	DNAH8_uc003ooe.2_Nonsense_Mutation_p.W3994*|DNAH8_uc003oog.1_Nonsense_Mutation_p.W443*	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						TCCGAGTATGGATAACTACGG	0.393000														56			15		0	0	1	0	0
TMEM237	65062	broad.mit.edu	37	2	202492842	202492842	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:202492842G>A	uc021vvg.1	-	9	1001	c.900C>T	c.(898-900)atC>atT	p.I300I	TMEM237_uc021vvd.1_Silent_p.I95I|TMEM237_uc021vve.1_Silent_p.I292I|TMEM237_uc021vvf.1_Silent_p.I95I|TMEM237_uc010zho.1_Silent_p.I95I	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN	Homo sapiens transmembrane protein 237 (TMEM237), transcript variant 1, mRNA.	324						integral to membrane	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						AAAAATTTCGGATTGCTACTG	0.323000														24			10		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160097516	160097516	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:160097516C>T	uc001fvc.3	+	7	1055	c.923C>T	c.(922-924)tCc>tTc	p.S308F	ATP1A2_uc001fvb.2_Missense_Mutation_p.S308F|ATP1A2_uc010piz.1_Missense_Mutation_p.S153F|ATP1A2_uc001fvd.3_Missense_Mutation_p.S44F|ATP1A2_uc009wtg.1_5'Flank	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	308					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TTCGTGCTCTCCCTCATCCTG	0.572000														228			122		0	0	1	0	0
NIPAL4	348938	broad.mit.edu	37	5	156899650	156899650	+	Nonsense_Mutation	SNP	C	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:156899650C>G	uc003lwx.4	+	5	1199	c.1083C>G	c.(1081-1083)taC>taG	p.Y361*	ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Nonsense_Mutation_p.Y342*	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA.	361						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CCATCTACTACGTGTTCTTCA	0.537000											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		75			41		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181732646	181732646	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:181732646G>A	uc009wxt.3	+	33	4989	c.4794G>A	c.(4792-4794)tgG>tgA	p.W1598*	CACNA1E_uc001gow.3_Nonsense_Mutation_p.W1598*|CACNA1E_uc009wxs.3_Nonsense_Mutation_p.W1579*|CACNA1E_uc001gox.1_Nonsense_Mutation_p.W824*	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1598					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.L1597P(1)		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						TTTTGCTGTGGACCTTTGTGC	0.493000														32			11		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394139	164394139	+	Missense_Mutation	SNP	G	A	A	rs140696676		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:164394139G>A	uc003iqp.4	-	0	909	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	250						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGAATACCCCGACCTTTGAAG	0.438000														184			119		0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21977866	21977866	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:21977866G>A	uc003xas.3	-	11	3430	c.2765C>T	c.(2764-2766)tCc>tTc	p.S922F	HR_uc003xat.3_Missense_Mutation_p.S922F	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	922							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)		CTCAGGCCAGGAGAAGCCCTC	0.677000														97			22		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6690727	6690727	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:6690727C>T	uc002mfm.3	-	26	3464	c.3402G>A	c.(3400-3402)cgG>cgA	p.R1134R		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1134					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)		CGTTGTTGTTCCGTAATCCAC	0.537000														44			16		0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657705	72657705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:72657705C>T	uc003txs.1	-	12	2207	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		ccatcgctttcatttctggaa	0.478000														144			91		0	0	1	0	0
GPM6B	2824	broad.mit.edu	37	X	13801602	13801602	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:13801602G>A	uc004cvw.3	-	3	698	c.407C>T	c.(406-408)tCc>tTc	p.S136F	GPM6B_uc004cvx.3_Missense_Mutation_p.S77F|GPM6B_uc011min.1_Missense_Mutation_p.S10F|GPM6B_uc004cwa.2_Missense_Mutation_p.S77F|GPM6B_uc011mim.2_Missense_Mutation_p.S110F|GPM6B_uc004cvy.2_Missense_Mutation_p.S136F|GPM6B_uc004cvz.2_Missense_Mutation_p.S96F	NM_001001995	NP_001001995	Q13491	GPM6B_HUMAN	Homo sapiens glycoprotein M6B (GPM6B), transcript variant 1, mRNA.	96					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						GAAGAAAAAGGACGCAATTCC	0.423000														66			58		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158605815	158605815	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:158605815C>T	uc001fst.1	-	37	5519	c.5320G>A	c.(5320-5322)Gat>Aat	p.D1774N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1774					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTGCCATATCCAGCACATTC	0.498000														220			60		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109816201	109816201	+	Silent	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:109816201C>A	uc001dxa.4	+	32	8714	c.8653C>A	c.(8653-8655)Cgg>Agg	p.R2885R		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	2885					Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCCACCGCCCCGGCAGAGCCT	0.697000														53			41		4.67007e-22	4.72469e-22	1	1	0
CDH18	1016	broad.mit.edu	37	5	19591256	19591256	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:19591256C>T	uc003jgd.3	-	6	1443	c.909G>A	c.(907-909)atG>atA	p.M303I	CDH18_uc011cnm.2_Missense_Mutation_p.M303I|CDH18_uc003jgc.3_Missense_Mutation_p.M303I|CDH18_uc021xwu.1_Missense_Mutation_p.M303I	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	303	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D302D(1)		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)					TGGAGTAGGTCATGTCAGCAT	0.413000														61			15		0	0	1	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182908646	182908646	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:182908646T>A	uc001gpu.3	-	3	1098	c.813A>T	c.(811-813)gaA>gaT	p.E271D	SHCBP1L_uc001gpv.3_Missense_Mutation_p.E152D|SHCBP1L_uc010pnz.2_Missense_Mutation_p.E129D|SHCBP1L_uc001gpw.3_5'UTR	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	343										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TCTCACAACTTTCTTCATCAT	0.289000														53			12		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20738039	20738039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:20738039C>T	uc010kuh.3	+	16	2257	c.2020C>T	c.(2020-2022)Cct>Tct	p.P674S	ABCB5_uc003suw.4_Missense_Mutation_p.P229S	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	229	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						GATAAGTCTTCCTGAAGTCTC	0.333000														35			15		0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47117342	47117342	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:47117342G>A	uc002eer.2	-	8	1781	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	NETO2_uc002eeq.2_Silent_p.S191S|NETO2_uc010vgf.2_Silent_p.S449S	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 2 (NETO2), transcript variant 1, mRNA.	456			S -> T (in dbSNP:rs2231983).			integral to membrane	receptor activity	p.S456F(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				GAAGTTCCATGGAACTGAGGT	0.507000										HNSCC(25;0.065)				200			95		0	0	1	0	0
CST1	1469	broad.mit.edu	37	20	23731432	23731432	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:23731432C>T	uc002wtp.3	-	0	143	c.72G>A	c.(70-72)aaG>aaA	p.K24K		NM_001898	NP_001889	P01037	CYTN_HUMAN	Homo sapiens cystatin SN (CST1), mRNA.	24						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TATCCTCCTCCTTGGGGCTCC	0.577000														65			21		0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48603517	48603517	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:48603517G>A	uc010wmr.2	+	13	2349	c.2187G>A	c.(2185-2187)atG>atA	p.M729I	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	692					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)			AGAGCATCATGGAGGAGATCC	0.627000														154			57		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179620077	179620077	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:179620077G>A	uc010pnp.2	+	11	2394	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K	TDRD5_uc021pfm.1_Missense_Mutation_p.E626K|TDRD5_uc001gnf.2_Missense_Mutation_p.E626K|TDRD5_uc021pfn.1_Missense_Mutation_p.E626K|TDRD5_uc001gnh.2_Missense_Mutation_p.E181K	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	626					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						GGTAGTGGATGAATATGTAGA	0.398000														167			59		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56329292	56329292	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:56329292C>T	uc010ygf.2	-	3	960	c.249G>A	c.(247-249)agG>agA	p.R83R	NLRP11_uc002qmb.3_Intron|NLRP11_uc002qmc.3_Intron|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	83	DAPIN.						ATP binding	p.C82R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAATGATCTTCCTACAAAGAT	0.443000														65			51		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106452934	106452934	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:106452934C>T	uc021ser.1	-	2607		c.45026G>A								Parts of antibodies, mostly variable regions.																		GGCTTCTTCACCTCAGCCCCA	0.577000														113			48		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179644017	179644017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179644017C>T	uc021vsy.1	-	22	4127	c.3902G>A	c.(3901-3903)aGa>aAa	p.R1301K	TTN_uc021vsz.1_Missense_Mutation_p.R1255K|TTN_uc021vta.1_Missense_Mutation_p.R1255K|TTN_uc021vtb.1_Missense_Mutation_p.R1255K|TTN_uc002unb.2_Missense_Mutation_p.R1301K|AK123298_uc002unc.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1301	Ig-like 5.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A1301T(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)			CTCAAGAATTCTATAATTCTT	0.358000														41			8		0	0	1	0	0
C17orf101	79701	broad.mit.edu	37	17	80373338	80373338	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:80373338G>A	uc002ket.2	-	1	392	c.240C>T	c.(238-240)gtC>gtT	p.V80V	C17orf101_uc010dip.2_Non-coding_Transcript|C17orf101_uc002keu.2_Silent_p.V80V|HEXDC_uc002kev.4_5'Flank	NM_175902	NP_787098	Q6PK18	CQ101_HUMAN	Homo sapiens chromosome 17 open reading frame 101 (C17orf101), transcript variant 2, mRNA.	80						integral to membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14						TCCCTGCCACGACCTCGCCAC	0.622000														160			44		0	0	1	0	0
SRPK1	6732	broad.mit.edu	37	6	35856695	35856695	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:35856695A>G	uc003olj.3	-	3	323	c.199T>C	c.(199-201)Tat>Cat	p.Y67H	SRPK1_uc003olh.3_5'UTR|SRPK1_uc003oli.3_5'UTR|SRPK1_uc011dtg.2_Missense_Mutation_p.Y51H	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.	67					RNA splicing|cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						ACAAGATGATAACCTCCTGGA	0.363000														142			61		0	0	1	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113672624	113672624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:113672624C>T	uc003eau.3	+	2	538	c.239C>T	c.(238-240)cCt>cTt	p.P80L	ZDHHC23_uc003eav.3_Missense_Mutation_p.P74L	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	Homo sapiens zinc finger, DHHC-type containing 23 (ZDHHC23), mRNA.	80						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						CTCCGAATTCCTTGGCTTAGG	0.458000														158			126		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75017892	75017893	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:75017892_75017893GG>AA	uc001xqa.3	-	6	1947_1948	c.1560_1561CC>TT	c.(1558-1563)ggccac>ggTTac	p.H521Y		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	521					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)		CAGAGGCTGTGGCCAGGGCTGG	0.708000														66			18		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33988477	33988477	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:33988477C>T	uc001zhi.3	+	38	5989	c.5919C>T	c.(5917-5919)atC>atT	p.I1973I	RYR3_uc010bar.3_Silent_p.I1973I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1973	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)		AGGACCAGATCCAGGATTCAG	0.562000														74			21		0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	138011906	138011906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:138011906C>T	uc010nar.3	+	5	1359	c.1340C>T	c.(1339-1341)tCc>tTc	p.S447F	OLFM1_uc004cfl.4_Missense_Mutation_p.S429F|OLFM1_uc004cfn.4_Missense_Mutation_p.S198F	NM_014279	NP_055094	Q99784	NOE1_HUMAN	Homo sapiens olfactomedin 1 (OLFM1), transcript variant 1, mRNA.	447	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		AACAAATACTCCCACATCTCC	0.537000														143			50		0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935446	151935446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:151935446C>T	uc022chl.1	-	0	721	c.721G>A	c.(721-723)Gat>Aat	p.D241N	MAGEA3_uc004fgp.3_Missense_Mutation_p.D241N	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	241	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTTGGGATCCCCCAAGATA	0.542000														217			133		0	0	1	0	0
PIPOX	51268	broad.mit.edu	37	17	27380543	27380543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:27380543G>A	uc002hdr.1	+	3	916	c.590G>A	c.(589-591)aGc>aAc	p.S197N		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Homo sapiens pipecolic acid oxidase (PIPOX), mRNA.	197					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	CAAGCTAAGAGCTTGGTCATC	0.572000														130			42		0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	130007340	130007340	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:130007340C>T	uc010lmd.1	+	11	1586	c.966C>T	c.(964-966)atC>atT	p.I322I	CPA5_uc003vps.2_Silent_p.I322I|CPA5_uc003vpt.2_Silent_p.I322I|CPA5_uc010lme.1_Silent_p.I322I|CPA5_uc003vpu.1_Silent_p.I322I|AK097910_uc003vpv.1_Non-coding_Transcript	NM_001127441	NP_525124	Q8WXQ8	CBPA5_HUMAN	Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA.	322					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TGATCTCCATCCACAGCTACT	0.557000														166			59		0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947137	57947137	+	Missense_Mutation	SNP	C	T	T	rs147196085		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:57947137C>T	uc021qjm.1	+	0	221	c.221C>T	c.(220-222)tCa>tTa	p.S74L	OR9Q1_uc001nmj.3_Missense_Mutation_p.S74L	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GTCTGCTACTCATCTATCACT	0.493000														64			45		0	0	1	0	0
FBXW4	6468	broad.mit.edu	37	10	103433355	103433355	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	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														45			47		0	0	1	0	0
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:13028751G>C	uc010sho.2	+	0	341	c.319G>C	c.(319-321)Ggc>Cgc	p.G107R						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		GGTGTTTGACGGCATCCCACC	0.612000														25			4		0	0	1	0	0
ZNF282	8427	broad.mit.edu	37	7	148895756	148895756	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:148895756G>A	uc003wfm.3	+	1	602	c.497G>A	c.(496-498)aGg>aAg	p.R166K	ZNF282_uc011kun.1_Missense_Mutation_p.R166K|ZNF282_uc003wfn.3_Missense_Mutation_p.R106K|ZNF282_uc003wfo.3_Missense_Mutation_p.R106K	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	166					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTGCTGCAGAGGCGGCTGGAG	0.637000														176			69		0	0	1	0	0
INSL4	3641	broad.mit.edu	37	9	5231621	5231621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:5231621C>T	uc003ziy.3	+	0	203	c.98C>T	c.(97-99)cCc>cTc	p.P33L		NM_002195	NP_002186	Q14641	INSL4_HUMAN	Homo sapiens insulin-like 4 (placenta) (INSL4), mRNA.	33					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		GGATGTGGTCCCCGATTTGGA	0.562000														29			14		0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296158	39296158	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:39296158G>A	uc010cxk.2	-	0	582	c.582C>T	c.(580-582)tgC>tgT	p.C194C		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	190						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGGGACGGGGGCAGGTGGAAA	0.612000														20			4		0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029047	219029047	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:219029047G>A	uc021vwq.1	-	0	888	c.888C>T	c.(886-888)ctC>ctT	p.L296L	CXCR1_uc002vhc.3_Silent_p.L296L|HV303425_uc021vwr.1_5'Flank	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	296					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GGCAGCTATGGAGAAATCCCA	0.562000														109			50		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6896522	6896522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:6896522C>T	uc002mfw.3	+	2	246	c.208C>T	c.(208-210)Cac>Tac	p.H70Y	EMR1_uc010dvc.3_Missense_Mutation_p.H70Y|EMR1_uc010dvb.3_Missense_Mutation_p.H70Y|EMR1_uc010xji.2_Missense_Mutation_p.H70Y|EMR1_uc010xjj.2_Missense_Mutation_p.H70Y	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	70	EGF-like 1.				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)					TGGGCAAAATCACTTCAAGGA	0.483000														66			29		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177250385	177250385	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:177250385C>T	uc001glf.3	+	7	2385	c.2073C>T	c.(2071-2073)ccC>ccT	p.P691P	FAM5B_uc001glg.3_Silent_p.P586P	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	691						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						ACAGCCTGCCCTTTGACCCAG	0.478000														253			82		0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88766951	88766951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:88766951G>A	uc021xpx.1	+	3	1036	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	MEPE_uc021xpu.1_Missense_Mutation_p.E311K|MEPE_uc021xpv.1_Missense_Mutation_p.E198K|MEPE_uc021xpw.1_Missense_Mutation_p.E198K|MEPE_uc010ikn.3_Missense_Mutation_p.E198K|MEPE_uc003hqy.3_Missense_Mutation_p.E311K|MEPE_uc021xpy.1_Missense_Mutation_p.E198K	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	311					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGAGAGAGAAGAAAATGGTGG	0.448000														47			20		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24199248	24199248	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:24199248G>A	uc003xdy.3	+	15	1891	c.1808G>A	c.(1807-1809)gGa>gAa	p.G603E	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.G290E	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	603	Cys-rich.				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)		GTGGCCAATGGAACTAAGTGT	0.403000														73			8		0	0	1	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46067169	46067169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:46067169C>T	uc002zfr.4	+	0	839	c.794C>T	c.(793-795)tCc>tTc	p.S265F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198692	NP_941965	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.	259						keratin filament		p.S265S(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						TCCTGCCAGTCCAGCTGCTGC	0.692000														112			50		0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149775884	149775884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:149775884C>T	uc003lry.3	+	23	3929	c.3821C>T	c.(3820-3822)tCc>tTc	p.S1274F	TCOF1_uc003lrz.3_Missense_Mutation_p.S1236F|TCOF1_uc011dch.2_Missense_Mutation_p.S1237F|TCOF1_uc003lrx.3_Missense_Mutation_p.S1198F|TCOF1_uc003lsa.3_Missense_Mutation_p.S1197F	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	1274					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCAGAAGTCCCGGAAGCCC	0.582000														80			50		0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126142196	126142196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:126142196G>A	uc010hsg.1	+	10	1173	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	CCDC37_uc003eiu.1_Missense_Mutation_p.E371K	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	371										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CCCCACGCAGGAGGACACCGA	0.667000														31			20		0	0	1	0	0
KRT10	3858	broad.mit.edu	37	17	38978535	38978535	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:38978535G>A	uc002hvi.3	-	0	329	c.303C>T	c.(301-303)atC>atT	p.I101I	TMEM99_uc021txc.1_Intron|TMEM99_uc002hvj.1_Intron|TMEM99_uc021txd.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	Homo sapiens keratin 10 (KRT10), mRNA.	101	Gly-rich.|Head.		I -> S (in dbSNP:rs4261597).		epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				CCCCTCCAAAGATGCCTCCAT	0.572000														125			46		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148766	34148766	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:34148766G>A	uc004ddg.3	-	0	1682	c.1630C>T	c.(1630-1632)Cgc>Tgc	p.R544C		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	544										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						AGCTCCGGGCGGAGACTGGAC	0.637000														62			50		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585285	7585285	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:7585285C>T	uc003mxp.1	+	23	8069	c.7790C>T	c.(7789-7791)tCc>tTc	p.S2597F	DSP_uc003mxq.1_Missense_Mutation_p.S1998F|DSP_uc021yle.1_Missense_Mutation_p.S2154F	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2597	Globular 2.				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)		TCCACCATATCCAGCGTCAGG	0.473000														135			43		0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96137710	96137710	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:96137710C>T	uc001yep.1	+	8		c.1752C>T			TCL6_uc021sbf.1_Non-coding_Transcript|TCL6_uc021sbg.1_Non-coding_Transcript|TCL6_uc021sbh.1_Non-coding_Transcript|TCL6_uc001yet.1_Non-coding_Transcript|TCL6_uc001yeu.2_Non-coding_Transcript|TCL6_uc001yev.2_Non-coding_Transcript|TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript					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)		ctgtctcattcgcctctggat	0.468000			T	TRA@	T-ALL									48			15		0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126748745	126748745	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:126748745C>T	uc003ejg.3	+	26	4899	c.4899C>T	c.(4897-4899)ccC>ccT	p.P1633P	PLXNA1_uc003ejh.3_Silent_p.P278P	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	1633					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)		CCAGCAGCCCCGACAGCCTGC	0.701000														72			22		0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399224	22399224	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:22399224G>A	uc001mqk.3	+	11	2100	c.1687G>A	c.(1687-1689)Gaa>Aaa	p.E563K		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	563					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.E562*(1)		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						AAAGAAAGAGGAATTTGTACA	0.363000														46			5		0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143633246	143633246	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:143633246A>T	uc011ktv.2	+	0	921	c.921A>T	c.(919-921)aaA>aaT	p.K307N		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TATTAGAGAAATTCTCTGGGT	0.428000														63			34		0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10787204	10787204	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:10787204C>T	uc001qys.2	-	2	535	c.14G>A	c.(13-15)cGg>cAg	p.R5Q		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	5						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						CAGGAGCATCCGTGTCATGCC	0.488000										HNSCC(73;0.22)				71			14		0	0	1	0	0
SKI	6497	broad.mit.edu	37	1	2237546	2237546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:2237546C>T	uc001aja.4	+	5	1927	c.1855C>T	c.(1855-1857)Ctc>Ttc	p.L619F		NM_003036	NP_003027	P12755	SKI_HUMAN	Homo sapiens v-ski sarcoma viral oncogene homolog (avian) (SKI), mRNA.	619					BMP signaling pathway|SMAD protein signal transduction|anterior/posterior axis specification|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of BMP signaling pathway|negative regulation of Schwann cell proliferation|negative regulation of activin receptor signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	PML body|cytoplasm|transcription factor complex|transcriptional repressor complex	SMAD binding|histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GATCGAGCGTCTCCGCGCCGA	0.662000														11			5		0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61026432	61026432	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:61026432G>A	uc001nra.3	-	19	2862	c.2583C>T	c.(2581-2583)tcC>tcT	p.S861S	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	861	Pro-rich.					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						GAGCCCCTGGGGAAGCTAGAG	0.672000														20			25		0	0	1	0	0
DDX28	55794	broad.mit.edu	37	16	68056770	68056770	+	Silent	SNP	C	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:68056770C>G	uc002evh.2	-	0	1001	c.336G>C	c.(334-336)gcG>gcC	p.A112A	DUS2L_uc002evi.3_5'Flank|DUS2L_uc002evj.3_5'Flank|DUS2L_uc010vkk.2_5'Flank	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 (DDX28), nuclear gene encoding mitochondrial protein, mRNA.	112						mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		CCTCCTGTTGCGCGCGCTCGA	0.692000														19			4		0	0	1	0	0
AADAC	13	broad.mit.edu	37	3	151531958	151531958	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:151531958G>A	uc003eze.3	+	0	98	c.8G>A	c.(7-9)aGa>aAa	p.R3K	MIR548H2_uc021xgb.1_Intron	NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	3				R -> M (in Ref. 6; AA sequence).	positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ACCATGGGAAGAAAATCGCTG	0.423000														173			35		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578530	7578530	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:7578530A>G	uc002gim.2	-	4	594	c.400T>C	c.(400-402)Ttt>Ctt	p.F134L	TP53_uc002gig.1_Missense_Mutation_p.F134L|TP53_uc002gih.3_Missense_Mutation_p.F134L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.F2L|TP53_uc010cnf.1_Missense_Mutation_p.F2L|TP53_uc002gii.1_Missense_Mutation_p.F2L|TP53_uc010cni.1_Missense_Mutation_p.F134L|TP53_uc010cnh.1_Missense_Mutation_p.F134L|TP53_uc002gij.2_Missense_Mutation_p.F134L|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.F41L|TP53_uc002gio.2_Missense_Mutation_p.F2L|TP53_uc010vug.2_Missense_Mutation_p.F95L	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	134	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> 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.F134L(33)|p.F134V(22)|p.M133K(12)|p.0?(8)|p.F134C(6)|p.M133R(5)|p.C135fs*35(5)|p.M133fs*37(4)|p.M133fs*36(4)|p.M133I(3)|p.F134S(3)|p.K132_A138delKMFCQLA(2)|p.M133T(2)|p.M133V(2)|p.N131fs*27(2)|p.M133fs*13(2)|p.S127_Q136del10(2)|p.M133L(2)|p.F134fs*39(2)|p.F134F(1)|p.F134_T140>S(1)|p.F41V(1)|p.C135T(1)|p.F41L(1)|p.V73fs*9(1)|p.Y126fs*11(1)|p.L130_M133delLNKM(1)|p.F2V(1)|p.?(1)|p.K132_M133del(1)|p.M133fs*16(1)|p.F2L(1)|p.F134fs*14(1)|p.S127fs*36(1)|p.M40fs*36(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)		AGTTGGCAAAACATCTTGTTG	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)				32			18		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791276	95791276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:95791276G>A	uc001kjk.3	+	1	1107	c.473G>A	c.(472-474)aGa>aAa	p.R158K	PLCE1_uc010qnx.2_Missense_Mutation_p.R158K	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	158					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)				GAACTAGACAGACCTTCCATG	0.433000														41			22		0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52601869	52601869	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:52601869G>A	uc002xws.2	-	6	1435	c.1097C>T	c.(1096-1098)tCa>tTa	p.S366L	BCAS1_uc010zza.1_Missense_Mutation_p.S124L|BCAS1_uc010zzb.1_Missense_Mutation_p.S314L|BCAS1_uc010gim.2_Missense_Mutation_p.S314L|BCAS1_uc002xwt.2_Missense_Mutation_p.S366L|BCAS1_uc010gil.1_Missense_Mutation_p.S366L	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	366						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGTGGGTCCTGATTTCTCCTT	0.537000														130			39		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27802154	27802154	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:27802154G>A	uc002rkz.4	+	0	2766	c.2715G>A	c.(2713-2715)agG>agA	p.R905R		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	905										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)					CTATGGAAAGGAAGCTTTGTT	0.428000														81			58		0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	55999685	55999685	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:55999685G>A	uc010rjc.2	-	0	977	c.977C>T	c.(976-978)cCc>cTc	p.P326L		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	326					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P326T(1)|p.P326P(1)|p.N325Y(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GTAGATGACGGGATTCAGCAA	0.343000														62			44		0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25261710	25261710	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:25261710G>A	uc001rgk.3	-	15	2023	c.1941C>T	c.(1939-1941)gcC>gcT	p.A647A	CASC1_uc001rgj.3_Silent_p.A601A|CASC1_uc001rgm.4_Intron|CASC1_uc001rgl.3_Silent_p.A641A|CASC1_uc010sje.2_Silent_p.A582A|CASC1_uc010sjf.2_Intron	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA.	641										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)			ACATTAAAAGGGCCCAATTAG	0.358000														41			15		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22673378	22673378	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:22673378C>T	uc021wml.1	+	34		c.3042C>T			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		TAAGGTGGTACCAACAAAAGC	0.542000														211			119		0	0	1	0	0
FGF17	8822	broad.mit.edu	37	8	21903803	21903803	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:21903803G>A	uc003xai.3	+	1	1620	c.319_splice	c.e1+1	p.A107_splice	FGF17_uc003xag.3_Splice_Site_p.A84_splice|FGF17_uc003xah.3_Splice_Site_p.A73_splice	NM_003867	NP_003858	O60258	FGF17_HUMAN	Homo sapiens fibroblast growth factor 17 (FGF17), mRNA.	84					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		AACAAGTTTGGTGAGAGTTGG	0.642000														57			42		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57561243	57561243	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:57561243C>T	uc001snd.3	+	18	3397	c.2931C>T	c.(2929-2931)ttC>ttT	p.F977F	LRP1_uc009zph.1_Non-coding_Transcript|LRP1_uc009zpi.1_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	977	LDL-receptor class A 6.				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)	CCACCTGCTTCCCCCTGACTC	0.522000														138			54		0	0	1	0	0
MIR1179	100302235	broad.mit.edu	37	15	89151363	89151363	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:89151363C>T	uc021suc.1	+	0		c.26C>T								Homo sapiens microRNA 1179 (MIR1179), microRNA.																		AGCATTCTTTCATTGGTTGGT	0.388000														190			86		0	0	1	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153275062	153275062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:153275062C>T	uc001fbn.1	-	4	604	c.551G>A	c.(550-552)cGa>cAa	p.R184Q		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	184					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)			CCAAGCAGATCGTTTGATGAT	0.468000														130			30		0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440633	124440633	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:124440633C>T	uc010san.2	+	0	669	c.669C>T	c.(667-669)atC>atT	p.I223I		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GATTCAACATCATAGTCACGA	0.478000														44			36		0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74347571	74347571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:74347571C>T	uc003hhb.3	+	0	110	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	27	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CACACAACCTCGGGATATAGG	0.294000														51			27		0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183546757	183546757	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:183546757G>A	uc001gqj.4	-	2	618	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	NCF2_uc010pod.2_Nonsense_Mutation_p.Q115*|NCF2_uc010poe.2_Nonsense_Mutation_p.Q115*|NCF2_uc001gqk.4_Nonsense_Mutation_p.Q115*	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	115					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						AGCTTGAACTGGAGCCCCAGG	0.517000														179			61		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43860513	43860513	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:43860513G>A	uc010skx.2	-	8	1309	c.1309C>T	c.(1309-1311)Cac>Tac	p.H437Y		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	437	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)		GGACTCATGTGAAAACTTAAA	0.308000														80			22		0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205892219	205892219	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:205892219C>T	uc001hdp.3	-	15	1878	c.1764G>A	c.(1762-1764)atG>atA	p.M588I	SLC26A9_uc001hdo.3_Missense_Mutation_p.M256I|SLC26A9_uc001hdq.3_Missense_Mutation_p.M588I	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	588	STAS.					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)			CCTTGGTTTTCATGAATAGAG	0.542000														140			80		0	0	1	0	0
CACNG2	10369	broad.mit.edu	37	22	36960801	36960801	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:36960801G>A	uc003aps.2	-	3	638	c.569C>T	c.(568-570)gCc>gTc	p.A190V		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	190					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						GACCATCTCGGCGATGATGAA	0.597000														496			140		0	0	1	0	0
KBTBD13	390594	broad.mit.edu	37	15	65370276	65370276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:65370276G>A	uc010uis.2	+	0	1123	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T	RASL12_uc010uir.1_5'Flank	NM_001101362	NP_001094832	C9JR72	KBTBD_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 13 (KBTBD13), mRNA.	375						cytoplasm				lung(1)|prostate(1)|skin(1)	3						TCTCAACCTGGCCACGGGCCA	0.652000														72			30		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179447840	179447840	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179447840C>T	uc021vsy.1	-	261	58211	c.57986G>A	c.(57985-57987)tGg>tAg	p.W19329*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W13024*|TTN_uc021vta.1_Nonsense_Mutation_p.W12957*|TTN_uc021vtb.1_Nonsense_Mutation_p.W12832*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20256	Fibronectin type-III 40.						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)			ATCTTTTTTCCAAGAAACTGT	0.463000														16			3		0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79679694	79679694	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:79679694G>A	uc001sys.3	+	5	965	c.294G>A	c.(292-294)ggG>ggA	p.G98G	SYT1_uc001syt.3_Silent_p.G98G|SYT1_uc001syu.3_Silent_p.G98G|SYT1_uc001syv.3_Silent_p.G98G	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	98					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.G98G(4)|p.G97fs*8(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AAAAAGGAGGGAAGAATGCCA	0.338000														44			15		0	0	1	0	0
CNOT2	4848	broad.mit.edu	37	12	70704717	70704717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:70704717G>A	uc001svv.3	+	2	673	c.91G>A	c.(91-93)Gag>Aag	p.E31K	CNOT2_uc009zro.3_Missense_Mutation_p.E31K|CNOT2_uc009zrp.3_Missense_Mutation_p.E11K|CNOT2_uc009zrq.3_Missense_Mutation_p.E31K	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.	31					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	RNA polymerase II transcription cofactor activity|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GAAGTTTGTAGAGGGGGTCGA	0.368000														57			19		0	0	1	0	0
C2orf84	653140	broad.mit.edu	37	2	24406459	24406459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:24406459C>T	uc002rfc.3	+	4	432	c.346C>T	c.(346-348)Cca>Tca	p.P116S	C2orf84_uc010eyc.3_Non-coding_Transcript	NM_001040710	NP_001035800	Q86W67	CB084_HUMAN	Homo sapiens chromosome 2 open reading frame 84 (C2orf84), mRNA.	116										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|pancreas(1)|stomach(1)	9						CTGTGTGATTCCAAAAGAGTG	0.408000														26			26		0	0	1	0	0
WBP2NL	164684	broad.mit.edu	37	22	42422814	42422814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:42422814C>T	uc003bbt.3	+	5	653	c.559C>T	c.(559-561)Ccc>Tcc	p.P187S	WBP2NL_uc011apk.2_Missense_Mutation_p.P59S|WBP2NL_uc003bbu.2_Non-coding_Transcript|WBP2NL_uc003bbv.1_Non-coding_Transcript	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN	Homo sapiens WBP2 N-terminal like (WBP2NL), mRNA.	187	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						AGCCCCACCTCCCGGATACGG	0.517000														375			131		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41018871	41018871	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:41018871G>A	uc003jmj.4	-	25	3085	c.2595C>T	c.(2593-2595)tcC>tcT	p.S865S	HEATR7B2_uc003jmi.4_Silent_p.S420S	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	865							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						GGGCGTCCATGGATCGTTCAT	0.458000														56			23		0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144075882	144075882	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:144075882C>T	uc003wel.3	+	13	4677	c.4559C>T	c.(4558-4560)gCc>gTc	p.A1520V	ARHGEF5_uc003wem.3_Missense_Mutation_p.A321V	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	1520	SH3.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TGCCTTCGAGCCTACAAGCCC	0.562000														234			88		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466107	10466107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:10466107C>T	uc003wtc.3	-	3	5730	c.5501G>A	c.(5500-5502)gGc>gAc	p.G1834D		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1834					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)		GGCCTCTATGCCTTCGGCCCC	0.637000														325			145		0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120438357	120438357	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:120438357G>A	uc001eij.3	-	0	791	c.603C>T	c.(601-603)caC>caT	p.H201H		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	201					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.H201H(2)		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)		AGTACTTTGGGTGTTTATAGG	0.403000														716			186		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366725	40366725	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:40366725G>A	uc002rrx.3	-	8	2385	c.2361C>T	c.(2359-2361)gtC>gtT	p.V787V	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Silent_p.V782V|SLC8A1_uc002rsb.2_Silent_p.V779V|SLC8A1_uc002rrz.3_Silent_p.V774V|SLC8A1_uc002rsa.3_Silent_p.V751V|SLC8A1_uc002rsd.4_Silent_p.V751V	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	787					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGGCAAACAGGACCTTCCAGA	0.502000														65			30		0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215606	20215606	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:20215606C>T	uc010tkt.2	+	0	20	c.20C>T	c.(19-21)tCt>tTt	p.S7F		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAACAAGATTCTAATGTGACA	0.333000														45			12		0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16110399	16110399	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:16110399T>A	uc010bvi.3	+	4	711	c.536T>A	c.(535-537)tTt>tAt	p.F179Y	ABCC1_uc010bvj.3_Missense_Mutation_p.F179Y|ABCC1_uc010bvk.3_Missense_Mutation_p.F179Y|ABCC1_uc010bvl.3_Missense_Mutation_p.F179Y|ABCC1_uc010bvm.3_Missense_Mutation_p.F179Y|ABCC1_uc002del.4_Missense_Mutation_p.F63Y|ABCC1_uc010bvn.3_Missense_Mutation_p.F42Y	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	179					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TACGTCTACTTTTCCCTCTTA	0.507000														397			78		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2928840	2928840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:2928840G>A	uc003bpc.3	+	9	1211	c.872G>A	c.(871-873)gGt>gAt	p.G291D	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.G291D|CNTN4_uc003bpd.1_Missense_Mutation_p.G291D	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	291	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GAGGATGCTGGTTTATATGAA	0.393000														62			19		0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57442065	57442065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:57442065G>A	uc001smw.4	-	1	283	c.43C>T	c.(43-45)Ctc>Ttc	p.L15F	MYO1A_uc010sqz.2_5'Flank|MYO1A_uc009zpd.3_Missense_Mutation_p.L15F	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	15	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						GGTTCCAGGAGGACAAGATCC	0.522000														42			17		0	0	1	0	0
OXTR	5021	broad.mit.edu	37	3	8809555	8809555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:8809555C>T	uc003brc.3	-	2	941	c.319G>A	c.(319-321)Ggg>Agg	p.G107R		NM_000916	NP_000907	P30559	OXYR_HUMAN	Homo sapiens oxytocin receptor (OXTR), mRNA.	107					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity	p.Y106Y(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	AGGTCGGGCCCGTAGAAGCGG	0.612000														30			29		0	0	1	0	0
DMP1	1758	broad.mit.edu	37	4	88583217	88583217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:88583217G>A	uc003hqv.3	+	5	391	c.287G>A	c.(286-288)gGa>gAa	p.G96E	DMP1_uc003hqw.3_Missense_Mutation_p.G80E	NM_004407	NP_004398	Q13316	DMP1_HUMAN	Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA.	96					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		AGGAGCACAGGAAAAGGAGGA	0.502000														72			11		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28541528	28541528	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:28541528C>T	uc003nlo.3	-	3	2756	c.2138G>A	c.(2137-2139)aGa>aAa	p.R713K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	713					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						gttaacatttcttttattact	0.323000														17			8		0	0	1	0	0
PROM1	8842	broad.mit.edu	37	4	16000066	16000066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:16000066G>A	uc003goo.2	-	13	1836	c.1624C>T	c.(1624-1626)Ctc>Ttc	p.L542F	PROM1_uc003gor.2_Missense_Mutation_p.L542F|PROM1_uc003gos.2_Missense_Mutation_p.L533F|PROM1_uc003got.2_Missense_Mutation_p.L542F|PROM1_uc003gou.2_Missense_Mutation_p.L533F|PROM1_uc003gop.2_Missense_Mutation_p.L533F|PROM1_uc003goq.3_Missense_Mutation_p.L533F	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	542					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TTCCCAGAGAGATAGTATTCC	0.308000														39			6		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129498907	129498907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:129498907C>T	uc021zfb.1	+	9	1468	c.1363C>T	c.(1363-1365)Cgg>Tgg	p.R455W	LAMA2_uc003qbn.3_Missense_Mutation_p.R455W|LAMA2_uc003qbo.3_Missense_Mutation_p.R455W	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	455	Laminin EGF-like 3.				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)		GAGCTGTGATCGGTGTGCCAG	0.483000														16			17		0	0	1	0	0
OR10H3	26532	broad.mit.edu	37	19	15852409	15852409	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:15852409C>T	uc010xoq.2	+	0	207	c.207C>T	c.(205-207)atC>atT	p.I69I		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	69					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						CCCTCTCCATCTCTGAGATTC	0.502000														480			106		0	0	1	0	0
PAK1	5058	broad.mit.edu	37	11	77085397	77085397	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:77085397C>T	uc001oyh.4	-	4	986	c.453G>A	c.(451-453)gaG>gaA	p.E151E	PAK1_uc010rso.2_Silent_p.E53E|PAK1_uc001oyg.4_Silent_p.E151E|PAK1_uc001oyi.1_Silent_p.E151E	NM_002576	NP_002567	Q13153	PAK1_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 1 (PAK1), transcript variant 2, mRNA.	151	Interaction with CRIPAK.				ER-nucleus signaling pathway|T cell costimulation|T cell receptor signaling pathway|apoptosis|axon guidance|cytoskeleton organization|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation	Golgi apparatus|cytosol|focal adhesion	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					AATTGTAATCCTCAGCTGACT	0.398000														29			19		0	0	1	0	0
PCMTD2	55251	broad.mit.edu	37	20	62904952	62904952	+	Nonstop_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:62904952A>T	uc002yil.4	+	5	1285	c.1085A>T	c.(1084-1086)tAa>tTa	p.*362L	PCMTD2_uc002yim.4_Nonstop_Mutation_p.*335L	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 (PCMTD2), transcript variant 1, mRNA.	0						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGAGAAAAATAAGTCTCCTGT	0.502000														146			47		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001351	52001352	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:52001351_52001352CC>TT	uc002pwx.1	-	4	1381_1382	c.1325_1326GG>AA	c.(1324-1326)ggg>gAA	p.G442E	SIGLEC12_uc002pww.1_Missense_Mutation_p.G324E|SIGLEC12_uc010eoy.1_Missense_Mutation_p.G169E	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	442	Ig-like C2-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)		AGGTGAATTCCCCTTCATCCTT	0.614000														42			22		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96702020	96702020	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:96702020G>A	uc001kka.4	+	2	428	c.403G>A	c.(403-405)Ggg>Agg	p.G135R	CYP2C9_uc009xut.3_Missense_Mutation_p.G135R|CYP2C9_uc001kjz.3_Missense_Mutation_p.G135R	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	135					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GCGGAATTTTGGGATGGGGAA	0.502000														48			45		0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6024232	6024232	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:6024232C>T	uc010qzv.2	-	0	147	c.147G>A	c.(145-147)agG>agA	p.R49R		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTAAAGTTTCCTGATCAATC	0.463000														58			9		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26299772	26299772	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:26299772G>A	uc003abz.1	+	30	5372	c.5122G>A	c.(5122-5124)Gaa>Aaa	p.E1708K	MYO18B_uc003aca.1_Missense_Mutation_p.E1589K|MYO18B_uc010guy.1_Missense_Mutation_p.E1590K|MYO18B_uc010guz.1_Missense_Mutation_p.E1588K|MYO18B_uc011aka.1_Missense_Mutation_p.E862K|MYO18B_uc011akb.1_Missense_Mutation_p.E1221K	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1708	Gln-rich.|Tail.		E -> K (in a lung adenocarcinoma sample; somatic mutation).			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						GAGCCAGCAGGAAAACACCAT	0.512000														10			4		0	0	1	0	0
IRX2	153572	broad.mit.edu	37	5	2749629	2749629	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:2749629C>T	uc003jda.3	-	1	764	c.522G>A	c.(520-522)aaG>aaA	p.K174K	C5orf38_uc003jdc.3_5'Flank|C5orf38_uc011cmg.2_5'Flank|C5orf38_uc011cmh.2_5'Flank|C5orf38_uc011cmi.2_5'Flank|C5orf38_uc011cmj.2_5'Flank|IRX2_uc003jdb.3_Silent_p.K174K	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	174						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TCTTGTTCTCCTTCTTGAGGC	0.602000														186			75		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046371	42046371	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:42046371C>T	uc001cgz.4	-	3	5311	c.4098G>A	c.(4096-4098)acG>acA	p.T1366T	HIVEP3_uc001cha.4_Silent_p.T1366T|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.	1366					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)				CACATACAGTCGTCCCCTTTG	0.547000														148			47		0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20483307	20483307	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:20483307C>T	uc010tky.2	-	0	46	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16R(2)		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)		GTGCAGAGTCCATGCAACACA	0.373000														77			27		0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44736150	44736150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:44736150C>T	uc003tln.3	+	13	2053	c.1894C>T	c.(1894-1896)Cat>Tat	p.H632Y	OGDH_uc011kbx.2_Missense_Mutation_p.H628Y|OGDH_uc011kby.2_Missense_Mutation_p.H482Y|OGDH_uc003tlp.3_Missense_Mutation_p.H643Y|OGDH_uc011kbz.2_Missense_Mutation_p.H427Y|OGDH_uc003tlo.1_Missense_Mutation_p.H465Y	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	632					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CTTTACTATTCATGGAGGTAA	0.567000														93			12		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688910	26688910	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:26688910G>A	uc003acb.3	+	1	829	c.633G>A	c.(631-633)gtG>gtA	p.V211V	SEZ6L_uc003acd.3_Silent_p.V211V|SEZ6L_uc011akd.2_Silent_p.V211V|SEZ6L_uc003ace.3_Silent_p.V211V|SEZ6L_uc011akc.2_Silent_p.V211V|SEZ6L_uc003acc.3_Silent_p.V211V|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.	211						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						AGCCCTATGTGGCCCACACAC	0.652000														200			50		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140983291	140983291	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:140983291G>A	uc011mwp.2	+	5	1069	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	MAGEC3_uc004fbs.3_Intron|MAGEC3_uc010nsj.3_5'Flank|MAGEC3_uc022cfh.1_5'Flank	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	357	MAGE 1.							p.Q356K(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCACAGACAGGAAGATGGCCG	0.592000														31			18		0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128918777	128918777	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:128918777C>T	uc002tps.3	+	24	2938	c.2760C>T	c.(2758-2760)atC>atT	p.I920I	UGGT1_uc010fme.1_Silent_p.I795I|UGGT1_uc002tpr.3_Silent_p.I896I	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	920					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCGAAAATATCATCTTAAAAA	0.423000														119			48		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126329693	126329693	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:126329693C>T	uc003ifj.4	+	3	5664	c.5664C>T	c.(5662-5664)atC>atT	p.I1888I	FAT4_uc011cgp.2_Silent_p.I186I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1888	Cadherin 18.				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						AAGATGGCATCTTTTTCCTGA	0.373000														57			12		0	0	1	0	0
GNA15	2769	broad.mit.edu	37	19	3157840	3157840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:3157840C>T	uc002lxf.2	+	5	1117	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S		NM_002068	NP_002059	P30679	GNA15_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 15 (Gq class) (GNA15), mRNA.	287					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.I286I(1)		large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GGAGAAAATCCCCACCTCCCA	0.483000														246			100		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121414296	121414296	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:121414296C>T	uc001pxx.3	+	12	1854	c.1725C>T	c.(1723-1725)atC>atT	p.I575I		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	575					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)		AAACATTCATCTTCTCTGAGA	0.463000														66			46		0	0	1	0	0
LRRC8B	23507	broad.mit.edu	37	1	90049685	90049685	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:90049685C>T	uc001dni.3	+	6	1983	c.1476C>T	c.(1474-1476)ctC>ctT	p.L492L	LRRC8B_uc001dnh.3_Silent_p.L492L|LRRC8B_uc001dnj.3_Silent_p.L492L	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.	492						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TAAAAATCCTCCGCCTGAAAT	0.458000														62			41		0	0	1	0	0
PTGER4	5734	broad.mit.edu	37	5	40681212	40681212	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:40681212C>T	uc003jlz.3	+	1	709	c.117C>T	c.(115-117)atC>atT	p.I39I		NM_000958	NP_000949	P35408	PE2R4_HUMAN	Homo sapiens prostaglandin E receptor 4 (subtype EP4) (PTGER4), mRNA.	39					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TGGTGGCCATCGTGGTGCTGT	0.607000											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		120			42		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44068144	44068144	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:44068144G>A	uc003bdy.2	-	13	1775	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	EFCAB6_uc003bdz.2_Silent_p.F335F|EFCAB6_uc010gzi.2_Silent_p.F335F|EFCAB6_uc010gzk.1_Non-coding_Transcript	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	487					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)				AGGCCAGGAGGAAAGGTGTCT	0.403000														84			32		0	0	1	0	0
TMEM37	140738	broad.mit.edu	37	2	120194503	120194503	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:120194503C>T	uc002tly.3	+	1	94	c.60C>T	c.(58-60)tcC>tcT	p.S20S		NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN	Homo sapiens transmembrane protein 37 (TMEM37), mRNA.	20						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CCCGCCGGTCCTTCTTTGAAT	0.617000														122			39		0	0	1	0	0
FBLIM1	54751	broad.mit.edu	37	1	16101188	16101188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:16101188C>T	uc001axd.1	+	7	1230	c.787C>T	c.(787-789)Cac>Tac	p.H263Y	FBLIM1_uc001axe.1_Missense_Mutation_p.H263Y|FBLIM1_uc001axg.1_Missense_Mutation_p.H263Y|FBLIM1_uc001axh.1_Missense_Mutation_p.H166Y|FBLIM1_uc001axi.1_Missense_Mutation_p.H166Y	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	263	LIM zinc-binding 2.				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)		CCAGGCCTTCCACCCCTCCTG	0.632000														169			78		0	0	1	0	0
SLC30A9	10463	broad.mit.edu	37	4	42065032	42065032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:42065032C>T	uc003gwl.3	+	10	1072	c.926C>T	c.(925-927)tCt>tTt	p.S309F	SLC30A9_uc011byx.2_Missense_Mutation_p.S69F	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA.	309					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGCTATATTTCTTCGCTAATT	0.348000														131			26		0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132736599	132736599	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:132736599C>T	uc003kyn.1	-	3	458	c.240G>A	c.(238-240)agG>agA	p.R80R		NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	80						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCCTGTCTTCCTGCTGAGCA	0.607000														43			37		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150840850	150840850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:150840850G>A	uc004fev.4	+	13	1965	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	545	Lys-rich.					nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					gaagCTAcaggagcggaagaa	0.527000														15			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179647089	179647089	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179647089C>T	uc021vsy.1	-	19	3455	c.3230G>A	c.(3229-3231)gGa>gAa	p.G1077E	TTN_uc021vsz.1_Missense_Mutation_p.G1031E|TTN_uc021vta.1_Missense_Mutation_p.G1031E|TTN_uc021vtb.1_Missense_Mutation_p.G1031E|TTN_uc002unb.2_Missense_Mutation_p.G1077E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1077							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)			GGCAGGTTCTCCAGGCCCTGC	0.507000														61			25		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326553	152326553	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:152326553C>T	uc001ezw.4	-	2	3782	c.3709G>A	c.(3709-3711)Gaa>Aaa	p.E1237K	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1237	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)			TGAGTAGTTTCCTGTCTCCCA	0.478000														157			80		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142120004	142120004	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:142120004G>A	uc022anf.1	-	1	207	c.178C>T	c.(178-180)Caa>Taa	p.Q60*	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022ane.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		AGGGCCTGTTGATACCAATAA	0.502000														69			24		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31178546	31178546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:31178546G>A	uc002rns.3	-	6	1247	c.607C>T	c.(607-609)Ctc>Ttc	p.L203F	GALNT14_uc002rnq.3_Missense_Mutation_p.L178F|GALNT14_uc010ymr.2_Missense_Mutation_p.L163F|GALNT14_uc002rnr.3_Missense_Mutation_p.L198F|GALNT14_uc010ezo.2_Missense_Mutation_p.L165F|GALNT14_uc010ezp.1_Missense_Mutation_p.L169F	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	198	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E203K(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGGCTGTCGAGGAAAGTCAGA	0.627000														78			29		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228148999	228148999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:228148999G>A	uc002vom.2	+	33	2981	c.2819G>A	c.(2818-2820)gGa>gAa	p.G940E	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.	940	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)		GGAGATAAAGGAAATCCCGGG	0.498000														72			31		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390665	197390665	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:197390665C>T	uc001gtz.3	+	5	1916	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F	CRB1_uc010poz.2_Silent_p.F500F|CRB1_uc009wza.3_Silent_p.F457F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.F569F|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.F50F|CRB1_uc001gub.1_Silent_p.F218F	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	569	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	p.F569F(2)		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						AGTGGCATTTCGTGGAGGTAA	0.453000														102			68		0	0	1	0	0
SLC25A12	8604	broad.mit.edu	37	2	172700923	172700924	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:172700923_172700924GG>AT	uc002uhh.2	-	4	509_510	c.420_421CC>AT	c.(418-423)aaccgg>aaATgg	p.140_141NR>KW	SLC25A12_uc010fqh.2_Missense_Mutation_p.33_34NR>KW|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.	140	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)	TGCTTCTTCCGGTTATGCCCAA	0.356000														105			34		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154826	22154826	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:22154826C>T	uc021urr.1	-	3	3159	c.3010G>A	c.(3010-3012)Gaa>Aaa	p.E1004K	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.									p.K1004N(1)		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	0.368000														42			27		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71026020	71026020	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:71026020G>A	uc002ezr.3	-	23	3889	c.3738C>T	c.(3736-3738)atC>atT	p.I1246I		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1246										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)				CTGTAACTAGGATTGCTGGTG	0.458000														53			23		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684180	100684180	+	Silent	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100684180A>G	uc003uxp.1	+	2	9536	c.9483A>G	c.(9481-9483)gaA>gaG	p.E3161E	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3161	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)					CTCCTAGTGAAGGAAGTACTC	0.493000														501			214		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68981328	68981328	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:68981328G>A	uc003xxv.1	+	11	1427	c.1400G>A	c.(1399-1401)gGa>gAa	p.G467E	PREX2_uc003xxu.1_Missense_Mutation_p.G467E|PREX2_uc011lez.1_Missense_Mutation_p.G402E	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	467					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TATGATGATGGAACATTTTAT	0.338000														38			10		0	0	1	0	0
SSX7	280658	broad.mit.edu	37	X	52681979	52681979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:52681979G>A	uc004dqx.1	-	2	284	c.125C>T	c.(124-126)tCc>tTc	p.S42F		NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 7 (SSX7), mRNA.	42	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					TTTCTCCAAGGATTTCATCTT	0.378000														78			41		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594140	140594140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140594140C>T	uc003lja.1	+	0	632	c.445C>T	c.(445-447)Cct>Tct	p.P149S		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	149	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.P148S(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCAGTCCTCCTGGGACTAC	0.423000														115			74		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771752	143771752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:143771752C>T	uc011ktx.2	+	0	440	c.440C>T	c.(439-441)tCc>tTc	p.S147F		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	147					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)					GCATTGACTTCCTGGATTTTA	0.463000														163			72		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1018158	1018158	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:1018158T>C	uc001lsw.2	-	30	4694	c.4643A>G	c.(4642-4644)aAc>aGc	p.N1548S		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1548	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACTAGTGGGGTTGGGAGTAAT	0.552000														299			137		0	0	1	0	0
TAF1D	79101	broad.mit.edu	37	11	93466516	93466516	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:93466516C>T	uc001pdz.3	-	8		c.1292_splice	c.e8+1		TAF1D_uc001pec.3_Non-coding_Transcript|SNORA8_uc009ywe.3_5'Flank|SNORD5_uc009ywf.1_5'Flank	NM_024116		Q9H5J8	TAF1D_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa (TAF1D), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						TAAAACTTACCTAAGCGATCA	0.348000														23			13		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117853253	117853253	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:117853253G>A	uc004bjj.4	-	1	457	c.45C>T	c.(43-45)ttC>ttT	p.F15F	TNC_uc010mvf.3_Silent_p.F15F|TNC_uc022bmj.1_Silent_p.F15F	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	15					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						CGAGGGCAAGGAAAGCAAGAA	0.597000														49			21		0	0	1	0	0
C10orf118	55088	broad.mit.edu	37	10	115889665	115889665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:115889665G>A	uc001lbb.1	-	12	2819	c.2167C>T	c.(2167-2169)Cgt>Tgt	p.R723C	C10orf118_uc009xyd.1_Missense_Mutation_p.R321C|C10orf118_uc009xye.1_Non-coding_Transcript|C10orf118_uc001lbc.1_Missense_Mutation_p.R723C	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	Homo sapiens chromosome 10 open reading frame 118 (C10orf118), mRNA.	723	Ser-rich.									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)		GAACTAGAACGACTTCCCATG	0.368000														40			40		0	0	1	0	0
ZNF414	84330	broad.mit.edu	37	19	8576745	8576745	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:8576745G>A	uc002mke.4	-	4	748	c.630C>T	c.(628-630)ccC>ccT	p.P210P	ZNF414_uc010dwf.3_Silent_p.P199P|ZNF414_uc002mkf.3_Silent_p.P210P	NM_001146175	NP_001139647	Q96IQ9	ZN414_HUMAN	Homo sapiens zinc finger protein 414 (ZNF414), transcript variant 1, mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(2)	2						CCAGGGCCGGGGGTGGCGGCG	0.726000														26			10		0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113729778	113729778	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:113729778C>T	uc003eax.3	-	8	1401	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Silent_p.L396L|KIAA1407_uc011bip.1_Silent_p.L405L	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	418										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCTCTCTCTTCAGGAGCTCGG	0.498000														85			62		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572734	140572734	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140572734G>A	uc003lix.3	+	0	783	c.609G>A	c.(607-609)gaG>gaA	p.E203E		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	203	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGATCGGGAGGAGCAGGGAG	0.512000														190			109		0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154923760	154923760	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:154923760C>T	uc001ffr.3	-	4	416	c.357G>A	c.(355-357)caG>caA	p.Q119Q	PBXIP1_uc001ffs.3_Silent_p.Q90Q|PBXIP1_uc010pep.2_Intron|PBXIP1_uc009woy.1_Non-coding_Transcript	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	119					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	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)			CTTCCAGGTCCTGTGTGTCTG	0.592000														75			35		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34090118	34090118	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:34090118C>T	uc001bxm.1	-	35	5802	c.5625_splice	c.e35+1	p.Q1875_splice	CSMD2_uc001bxn.1_Splice_Site_p.Q1835_splice|CSMD2_uc001bxo.1_Splice_Site_p.Q748_splice	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1835	CUB 11.					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)				CTTGCCCCTACCTGGATGCCA	0.657000														135			57		0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100610057	100610057	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100610057G>A	uc003uxl.1	+	9	3042	c.2242G>A	c.(2242-2244)Gat>Aat	p.D748N	AK096803_uc003uxm.1_5'Flank|AK096803_uc003uxn.1_Intron|MUC3A_uc010lhn.1_Non-coding_Transcript|MUC12_uc003uxo.3_5'Flank					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						tcTAGACAAGGATACAAATTT	0.557000														185			37		0	0	1	0	0
GOT1L1	137362	broad.mit.edu	37	8	37791993	37791993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:37791993C>T	uc011lbj.1	-	8	1184	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K		NM_152413	NP_689626	Q8NHS2	AATC2_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1-like 1 (GOT1L1), mRNA.	362					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			ACCAGGTATTCCACCTGCTGG	0.423000														169			80		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283748	152283748	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:152283748T>A	uc001ezu.1	-	2	3650	c.3614A>T	c.(3613-3615)gAt>gTt	p.D1205V	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1205	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)			ATGGGAGGCATCAGACCTTCC	0.557000									Ichthyosis					507			297		0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95481214	95481214	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:95481214G>A	uc010fhq.2	-	1	1166	c.774C>T	c.(772-774)ttC>ttT	p.F258F	ANKRD20A2_uc010fhp.3_Non-coding_Transcript	NM_001012421	NP_001012421	Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A2 (ANKRD20A2), mRNA.	678										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						TTGTCTTACGGAACTTATCTT	0.323000														55			22		0	0	1	0	0
PLEKHF2	79666	broad.mit.edu	37	8	96166770	96166770	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:96166770C>T	uc022ayk.1	+	0	498	c.498C>T	c.(496-498)ttC>ttT	p.F166F	PLEKHF2_uc003yhn.2_Silent_p.F166F	NM_024613	NP_078889	Q9H8W4	PKHF2_HUMAN	Homo sapiens pleckstrin homology domain containing, family F (with FYVE domain) member 2 (PLEKHF2), mRNA.	166						transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					AAGCAAAATTCACACCTGTTA	0.478000														165			37		0	0	1	0	0
RAB5A	5868	broad.mit.edu	37	3	20017216	20017217	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:20017216_20017217CC>TT	uc003cbn.3	+	2	822_823	c.287_288CC>TT	c.(286-288)gcc>gTT	p.A96V	RAB5A_uc010hey.3_Non-coding_Transcript|RAB5A_uc011awg.2_Missense_Mutation_p.A82V	NM_004162	NP_004153	P20339	RAB5A_HUMAN	Homo sapiens RAB5A, member RAS oncogene family (RAB5A), mRNA.	96					blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity			lung(1)|urinary_tract(1)	2						GCACAAGCAGCCATAGTTGTAT	0.376000														96			25		0	0	1	0	0
G3BP1	10146	broad.mit.edu	37	5	151179453	151179453	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:151179453C>T	uc003lun.3	+	8	1018	c.847C>T	c.(847-849)Cgt>Tgt	p.R283C	G3BP1_uc003lum.3_Missense_Mutation_p.R283C|G3BP1_uc011dcu.2_Missense_Mutation_p.R101C|G3BP1_uc010jhz.3_Missense_Mutation_p.R101C|G3BP1_uc003luq.3_Intron	NM_005754	NP_938405	Q13283	G3BP1_HUMAN	Homo sapiens GTPase activating protein (SH3 domain) binding protein 1 (G3BP1), transcript variant 1, mRNA.	283					Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|RNA binding|endonuclease activity|protein binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TTTTCAGCCCCGTCCAGAGTC	0.388000														20			17		0	0	1	0	0
PRPF39	55015	broad.mit.edu	37	14	45581633	45581633	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:45581633C>G	uc001wvz.4	+	10	1855	c.1685C>G	c.(1684-1686)cCt>cGt	p.P562R	PRPF39_uc001wvy.4_Missense_Mutation_p.P441R|PRPF39_uc010and.3_Missense_Mutation_p.P352R|PRPF39_uc001wwa.1_Missense_Mutation_p.P166R	NM_017922	NP_060392	Q86UA1	PRP39_HUMAN	Homo sapiens PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae) (PRPF39), mRNA.	562					RNA splicing|mRNA processing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						GGTTCATTACCTATTAAAATG	0.279000														29			6		0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272206	158272206	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:158272206C>T	uc002tzj.1	-	7	1135	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	CYTIP_uc010zcl.1_Missense_Mutation_p.E249K	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	355					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CGACTTTCTTCCTCTTCCACA	0.473000														48			19		0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54403497	54403497	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:54403497A>T	uc002qcq.1	+	11	1574	c.1292A>T	c.(1291-1293)tAt>tTt	p.Y431F	PRKCG_uc010yeg.1_Missense_Mutation_p.Y431F|PRKCG_uc010yeh.1_Missense_Mutation_p.Y318F	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	431	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)		GACCGCCTGTATTTCGTGATG	0.542000														49			38		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13721244	13721244	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13721244G>A	uc003jfd.2	-	70	12186	c.12144C>T	c.(12142-12144)ctC>ctT	p.L4048L	DNAH5_uc003jfc.2_Silent_p.L216L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4048	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)					CCATAGACAGGAGACAGATGA	0.498000									Kartagener syndrome					83			30		0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	56998046	56998046	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:56998046G>A	uc001slq.1	-	15	3193	c.2999C>T	c.(2998-3000)tCc>tTc	p.S1000F	BAZ2A_uc001slp.1_Missense_Mutation_p.S998F|BAZ2A_uc001slo.1_5'Flank|BAZ2A_uc009zov.1_5'Flank|BAZ2A_uc009zow.1_Missense_Mutation_p.S968F	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	1000					DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CCTGTAGCTGGACATACTCTC	0.522000														21			7		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62041908	62041908	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:62041908G>A	uc002jds.1	-	8	1449	c.1372C>T	c.(1372-1374)Ctg>Ttg	p.L458L		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	458					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TCCTCGGCCAGGGTGGCCTCA	0.527000														65			25		0	0	1	0	0
IGLL3P	91353	broad.mit.edu	37	22	25714322	25714323	+	RNA	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:25714322_25714323GG>AA	uc021wnj.1	+	0		c.99_100GG>AA								Homo sapiens immunoglobulin lambda-like polypeptide 3, pseudogene (IGLL3P), non-coding RNA.											cervix(1)|lung(4)|skin(1)|stomach(3)	9						TTTGGCAGCGGGACCCAGCTCA	0.569000														111			27		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089200	9089200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9089200G>A	uc002mkp.3	-	0	2819	c.2615C>T	c.(2614-2616)cCa>cTa	p.P872L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	872	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						AGACACAGATGGATTCGAAGT	0.488000														48			23		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66883513	66883513	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:66883513G>A	uc002jhq.3	-	24	3619	c.3279C>T	c.(3277-3279)ttC>ttT	p.F1093F	ABCA8_uc002jhp.3_Silent_p.F1053F|ABCA8_uc010wqq.2_Silent_p.F1093F|ABCA8_uc010wqr.2_Silent_p.F1032F	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1053						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.F1053F(1)		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)					GCATGTCTTCGAAGTTTGAAA	0.343000														74			27		0	0	1	0	0
DHX40	79665	broad.mit.edu	37	17	57684448	57684448	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:57684448C>T	uc002ixn.2	+	17	2402	c.2255C>T	c.(2254-2256)tCc>tTc	p.S752F	DHX40_uc010woe.2_Missense_Mutation_p.S675F|DHX40_uc010wof.2_Missense_Mutation_p.S267F	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.	752							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GATGACAAATCCATATCTGAT	0.413000														126			42		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31815672	31815672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:31815672G>A	uc001ivs.4	+	8	2918	c.2855G>A	c.(2854-2856)cGa>cAa	p.R952Q	ZEB1_uc001ivr.4_Missense_Mutation_p.R734Q|ZEB1_uc010qef.2_Missense_Mutation_p.R734Q|ZEB1_uc001ivu.4_Missense_Mutation_p.R953Q|ZEB1_uc010qeh.2_Missense_Mutation_p.R885Q|ZEB1_uc001ivv.4_Missense_Mutation_p.R932Q|ZEB1_uc001ivt.4_Missense_Mutation_p.R734Q|ZEB1_uc009xlo.2_Missense_Mutation_p.R935Q|ZEB1_uc009xlp.3_Missense_Mutation_p.R936Q	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	952					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	p.R952Q(2)|p.R952*(1)		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)				GAACACATGCGATTACATTCT	0.368000														24			16		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43762387	43762387	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:43762387C>T	uc002owd.4	-	4	1309	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	PSG9_uc002owe.4_Missense_Mutation_p.E311K|PSG9_uc010xwm.2_Missense_Mutation_p.E311K|PSG9_uc002owf.4_Missense_Mutation_p.E218K|PSG9_uc002owg.2_Missense_Mutation_p.E311K	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	404	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)				TTGGAGATTTCCTTGCCAGTG	0.448000														170			104		0	0	1	0	0
ACO1	48	broad.mit.edu	37	9	32431821	32431821	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:32431821G>A	uc003zqw.4	+	14	1986	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K	ACO1_uc010mjh.1_Missense_Mutation_p.E445K|ACO1_uc003zqx.4_Missense_Mutation_p.E611K|ACO1_uc003zqy.4_Non-coding_Transcript	NM_002197	NP_002188	P21399	ACOC_HUMAN	Homo sapiens aconitase 1, soluble (ACO1), mRNA.	611					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	Golgi apparatus|cytosol|endoplasmic reticulum	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GATGTTTAAGGAAGTCTATCA	0.517000											OREG0019130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		58			20		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56044613	56044613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:56044613C>T	uc021wzo.1	-	7	1924	c.1784G>A	c.(1783-1785)aGa>aAa	p.R595K	ERC2_uc003dhr.1_Missense_Mutation_p.R595K|ERC2_uc003dht.1_Missense_Mutation_p.R66K	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	595						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)		CTCAATTATTCTCTCCTGTAA	0.383000														74			27		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326831	57326831	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:57326831C>T	uc002qnu.2	-	6	3330	c.2979G>A	c.(2977-2979)agG>agA	p.R993R	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.R964R|PEG3_uc002qnv.2_Silent_p.R993R|PEG3_uc002qnw.2_Silent_p.R869R|PEG3_uc002qnx.2_Silent_p.R867R|PEG3_uc010etr.2_Silent_p.R993R	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	993					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)		AGGGCTTCTCCCTATCATGAA	0.498000														36			26		0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90171865	90171866	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:90171865_90171866AC>TT	uc002bof.2	-	18	3893_3894	c.3816_3817GT>AA	c.(3814-3819)ccgtta>ccAAta	p.L1273I	KIF7_uc010upw.1_Missense_Mutation_p.L759I	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	1273					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GTCAAGGGTAACGGAGCGTGGA	0.693000														97			48		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14748411	14748411	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:14748411C>T	uc003zlm.3	-	31	6600	c.5784G>A	c.(5782-5784)ggG>ggA	p.G1928G	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Intron|FREM1_uc003zll.3_Silent_p.G464G	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1928					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)		TTTTGCCATTCCCACGGGTCC	0.438000														25			10		0	0	1	0	0
GLIPR1L2	144321	broad.mit.edu	37	12	75804347	75804347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:75804347G>A	uc001sxr.1	+	1	376	c.368G>A	c.(367-369)gGc>gAc	p.G123D	GLIPR1L2_uc001sxp.1_Missense_Mutation_p.G123D|GLIPR1L2_uc001sxq.1_Missense_Mutation_p.G16D	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN	Homo sapiens GLI pathogenesis-related 1 like 2 (GLIPR1L2), mRNA.	123						integral to membrane		p.V122fs*4(1)|p.G123S(1)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						ATGTGGGTCGGCCCTGAAAAT	0.353000														41			15		0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79426544	79426544	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:79426544C>T	uc002kaf.2	+	21	5633	c.5633C>T	c.(5632-5634)tCc>tTc	p.S1878F	BAHCC1_uc002kae.2_Missense_Mutation_p.S1170F	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	1940							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			CGGCCACAGTCCAGCCGGTAC	0.677000														93			41		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648700	41648700	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:41648700C>T	uc003gvz.4	+	16	3027	c.2610C>T	c.(2608-2610)ccC>ccT	p.P870P	LIMCH1_uc003gwe.4_Silent_p.P485P|LIMCH1_uc003gvu.4_Silent_p.P485P|LIMCH1_uc003gvv.4_Silent_p.P485P|LIMCH1_uc003gvw.4_Silent_p.P485P|LIMCH1_uc003gvx.4_Silent_p.P473P|LIMCH1_uc003gvy.4_Silent_p.P314P|LIMCH1_uc003gwa.4_Silent_p.P326P|LIMCH1_uc011byu.2_Silent_p.P319P|LIMCH1_uc003gwc.4_Silent_p.P331P|LIMCH1_uc003gwd.4_Silent_p.P319P|LIMCH1_uc011byv.2_Silent_p.P236P	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	485					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						ACCCCAATCCCATGAAATACC	0.488000														431			65		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38876418	38876418	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:38876418G>A	uc003jln.2	+	2	591	c.189G>A	c.(187-189)ttG>ttA	p.L63L	OSMR_uc003jlm.2_Silent_p.L63L	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	63					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ATCAGGAATTGAAAATGGTAT	0.358000														54			35		0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88766263	88766263	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:88766263G>A	uc021xpx.1	+	3	348	c.336G>A	c.(334-336)aaG>aaA	p.K112K	MEPE_uc021xpu.1_Silent_p.K81K|MEPE_uc021xpv.1_5'UTR|MEPE_uc021xpw.1_5'UTR|MEPE_uc010ikn.3_5'UTR|MEPE_uc003hqy.3_Silent_p.K81K|MEPE_uc021xpy.1_5'Flank	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	81					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.G111C(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GTGAGAATAAGGGAAGTAGTA	0.338000														35			10		0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55212752	55212752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:55212752C>T	uc003jql.3	+	14	2291	c.2099C>T	c.(2098-2100)tCc>tTc	p.S700F	IL31RA_uc003jqm.3_Intron|IL31RA_uc003jqn.3_Intron|IL31RA_uc021xyq.1_Missense_Mutation_p.S681F|IL31RA_uc003jqo.3_Missense_Mutation_p.S558F	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	668					JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CCCAGAAAATCCCAATACCTA	0.512000														57			28		0	0	1	0	0
TREML4	285852	broad.mit.edu	37	6	41204270	41204270	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:41204270C>T	uc003oqc.3	+	4	657	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	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.	185						extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCCCAGATTCCTGGTCTTGGT	0.592000														68			35		0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939174	2939174	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:2939174C>T	uc001ajz.3	+	0	1129	c.924C>T	c.(922-924)ttC>ttT	p.F308F		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	308						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)		CTACCCTGTTCCACGGGCTGG	0.597000														142			55		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108782032	108782032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:108782032C>T	uc003dxl.3	-	9	949	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	MORC1_uc011bhn.2_Missense_Mutation_p.E288K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	288					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						TTTTTAACTTCATCTTTAAAT	0.308000														83			49		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113241922	113241922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	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														187			69		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57425832	57425832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:57425832G>A	uc001cyp.3	-	1	177	c.110C>T	c.(109-111)tCc>tTc	p.S37F	C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_5'UTR	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	37					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGACCCAAAGGAATGTGGCCT	0.418000														89			22		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118997653	118997653	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:118997653G>A	uc004bjn.3	+	6	2850	c.2469G>A	c.(2467-2469)ggG>ggA	p.G823G	PAPPA_uc011lxp.1_Silent_p.G518G|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	823					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						CTGTCAGTGGGAAGAACATCT	0.522000														37			14		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883843	228883843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:228883843C>T	uc002vpq.2	-	6	1774	c.1727G>A	c.(1726-1728)aGa>aAa	p.R576K	SPHKAP_uc002vpp.2_Missense_Mutation_p.R576K|SPHKAP_uc010zlx.1_Missense_Mutation_p.R576K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	576						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)		CACCTCTTCTCTTTCACCCAG	0.552000														125			46		0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95103648	95103648	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:95103648C>T	uc001kin.3	-	37	4414	c.4291G>A	c.(4291-4293)Gaa>Aaa	p.E1431K	MYOF_uc001kio.3_Missense_Mutation_p.E1418K|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1431					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTTCCATTTCGATAACGATG	0.428000														70			45		0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909203	123909203	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:123909203C>T	uc001pzq.1	-	0	506	c.506G>A	c.(505-507)gGa>gAa	p.G169E		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTGGTTGGGTCCACAGTAGGG	0.557000														127			78		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43251412	43251412	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:43251412C>T	uc003ouq.1	+	13	3213	c.2934C>T	c.(2932-2934)ccC>ccT	p.P978P	TTBK1_uc021yzs.1_Silent_p.P266P	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	978						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)			CCCGAGCGCCCCTGGAGAACG	0.687000														71			26		0	0	1	0	0
C7orf60	154743	broad.mit.edu	37	7	112461985	112461985	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:112461985G>A	uc011kms.1	-	5	1237	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	C7orf60_uc003vgo.1_Silent_p.F344F	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	Homo sapiens chromosome 7 open reading frame 60 (C7orf60), mRNA.	344										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						CTATACTGTTGAAATCTTGAG	0.373000														21			12		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231112769	231112769	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:231112769G>A	uc002vql.3	+	7	996	c.881G>A	c.(880-882)gGa>gAa	p.G294E	SP140_uc010zma.1_Intron|SP140_uc002vqk.2_Missense_Mutation_p.G294E|SP140_uc002vqn.3_Intron|SP140_uc002vqm.3_Missense_Mutation_p.G268E|SP140_uc010fxl.3_Missense_Mutation_p.G294E	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	294					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGTCCAGAGGGAAGAGACAAA	0.512000														37			11		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059329	152059329	+	Missense_Mutation	SNP	C	T	T	rs114173361	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:152059329C>T	uc001ezo.1	-	2	894	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	277							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)			GTTCTAACTTCCTGATCTTCA	0.433000														221			123		0	0	1	0	0
CLEC6A	93978	broad.mit.edu	37	12	8630024	8630024	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:8630024G>A	uc001qum.1	+	5	711	c.594G>A	c.(592-594)agG>agA	p.R198R		NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN	Homo sapiens C-type lectin domain family 6, member A (CLEC6A), mRNA.	198	C-type lectin.				defense response to fungus|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cytokine secretion	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					AAACTAGAAGGAATTCAATAT	0.378000														47			13		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662505	662505	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:662505C>T	uc001qii.1	+	13	1416	c.1416C>T	c.(1414-1416)ctC>ctT	p.L472L	B4GALNT3_uc001qij.1_Silent_p.L375L|B4GALNT3_uc001qik.1_Silent_p.L21L	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	472						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ACTACCGCCTCCGAAGCCTGC	0.637000														207			58		0	0	1	0	0
OPTC	26254	broad.mit.edu	37	1	203465352	203465352	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:203465352C>T	uc001gzu.1	+	1	335	c.219C>T	c.(217-219)gaC>gaT	p.D73D		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	Homo sapiens opticin (OPTC), mRNA.	73						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			ATTATGGGGACCAACTCCCCG	0.552000														66			32		0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7786917	7786917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:7786917G>A	uc001ijs.3	+	18	2734	c.2572G>A	c.(2572-2574)Gga>Aga	p.G858R		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	858					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TAAAGCCCACGGACTAATAGG	0.448000														54			35		0	0	1	0	0
DET1	55070	broad.mit.edu	37	15	89056206	89056206	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:89056206G>A	uc002bmq.2	-	5	1851	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Silent_p.F543F|DET1_uc010bnk.2_Non-coding_Transcript	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.	543						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GTCGCATATGGAAGTTGACAA	0.483000														91			32		0	0	1	0	0
ABCB6	10058	broad.mit.edu	37	2	220081123	220081123	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:220081123G>A	uc002vkc.2	-	3	2712	c.933C>T	c.(931-933)ttC>ttT	p.F311F	ABCB6_uc010fwe.2_Silent_p.F265F|ABCB6_uc010zku.1_Non-coding_Transcript	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6 (ABCB6), nuclear gene encoding mitochondrial protein, mRNA.	311	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAACTTGAGGAAGACGTAAC	0.562000														78			26		0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200137014	200137014	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:200137014C>T	uc002uuy.2	-	10	2939	c.2122G>A	c.(2122-2124)Gag>Aag	p.E708K	SATB2_uc010fsq.2_Missense_Mutation_p.E590K|SATB2_uc002uva.2_Missense_Mutation_p.E708K|SATB2_uc002uuz.2_Missense_Mutation_p.E708K	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	708						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TACATCTCCTCGGAGCCTTCC	0.532000														68			20		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9560930	9560930	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:9560930C>T	uc002wnl.2	-	4	1397	c.852G>A	c.(850-852)caG>caA	p.Q284Q	PAK7_uc002wnk.2_Silent_p.Q284Q|PAK7_uc002wnj.2_Silent_p.Q284Q|PAK7_uc010gby.1_Silent_p.Q284Q	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	284	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ACCTGGACCTCTGCCGCATGG	0.542000														121			46		0	0	1	0	0
HTR3B	9177	broad.mit.edu	37	11	113802575	113802575	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:113802575C>T	uc001pok.3	+	3	492	c.354C>T	c.(352-354)atC>atT	p.I118I	HTR3B_uc001pol.3_Silent_p.I107I	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	118					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	p.D117N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CCCCCGATATCATCATCAATG	0.453000														57			42		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15713206	15713206	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:15713206C>T	uc001rcv.2	+	16	3177	c.2707C>T	c.(2707-2709)Cct>Tct	p.P903S	PTPRO_uc001rcw.2_Intron|PTPRO_uc001rcx.2_Missense_Mutation_p.P92S|PTPRO_uc001rcy.2_Missense_Mutation_p.P92S|PTPRO_uc001rcz.2_Intron|PTPRO_uc001rda.2_Intron	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	903						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTATATTAATCCTTGGTAAGT	0.303000														43			14		0	0	1	0	0
TCRBV20S1	0	broad.mit.edu	37	7	142032411	142032411	+	Silent	SNP	G	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:142032411G>T	uc011krs.1	+	1	264	c.231G>T	c.(229-231)tcG>tcT	p.S77S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron					Homo sapiens mRNA for T cell receptor V beta6-D-J, partial cds.																		CAGACAAATCGGGGCTTCCCC	0.537000														24			12		7.03913e-09	7.08656e-09	1	1	0
EXOC4	60412	broad.mit.edu	37	7	132937894	132937894	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:132937894A>C	uc003vrk.3	+	0	72	c.37A>C	c.(37-39)Aca>Cca	p.T13P	EXOC4_uc011kpo.2_5'Flank|EXOC4_uc003vri.3_Missense_Mutation_p.T13P|EXOC4_uc003vrj.3_Missense_Mutation_p.T13P	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	13					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)				ATACAGAAGCACAGTCAGCAA	0.597000														128			45		0	0	1	0	0
PTPN7	5778	broad.mit.edu	37	1	202127303	202127303	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:202127303G>A	uc001gxn.2	-	2	1345	c.249C>T	c.(247-249)acC>acT	p.T83T	PTPN7_uc001gxl.2_Silent_p.T122T|PTPN7_uc001gxm.2_Silent_p.T188T|PTPN7_uc010ppx.2_Silent_p.T157T|PTPN7_uc010ppw.2_Silent_p.T31T|PTPN7_uc010ppy.2_Non-coding_Transcript|PTPN7_uc001gxo.1_Silent_p.T35T	NM_002832	NP_002823	P35236	PTN7_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 7 (PTPN7), transcript variant 1, mRNA.	83						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						GGGCCCAGCGGGTAAGGGGGT	0.597000														93			52		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27483215	27483215	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:27483215C>T	uc002dov.2	-	29	4420	c.4380G>A	c.(4378-4380)aaG>aaA	p.K1460K	GTF3C1_uc002dou.3_Silent_p.K1460K	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1460						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GAACGTGGTCCTTGTACTCCC	0.632000														54			30		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140203745	140203745	+	Silent	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140203745C>A	uc003lhj.1	+	0	2385	c.2385C>A	c.(2383-2385)ccC>ccA	p.P795P	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	NM_031501	NP_113689	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 2, mRNA.	0					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)			CCATCTTTCCCTCCCAATTTT	0.373000														67			32		4.34311e-12	4.37908e-12	1	1	0
EXPH5	23086	broad.mit.edu	37	11	108381909	108381909	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:108381909C>T	uc001pkk.3	-	5	4436	c.4325G>A	c.(4324-4326)aGa>aAa	p.R1442K	EXPH5_uc010rvz.2_Missense_Mutation_p.R1286K|EXPH5_uc010rvy.2_Missense_Mutation_p.R1254K	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1442					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCAAGAACTTCTTCTAGTTTG	0.423000														56			30		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207758173	207758173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:207758173G>A	uc001hfy.3	+	24	4272	c.4132G>A	c.(4132-4134)Ggg>Agg	p.G1378R	CR1_uc009xcl.1_Missense_Mutation_p.G928R|CR1_uc001hfx.3_Missense_Mutation_p.G1828R|CR1_uc021pij.1_Missense_Mutation_p.G1378R	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1378	Sushi 21.				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						TCATGGGAATGGGGTTTGGAG	0.517000														173			44		0	0	1	0	0
CYB5RL	606495	broad.mit.edu	37	1	54640376	54640376	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:54640376G>A	uc009vzo.3	-	7	1184	c.864C>T	c.(862-864)gtC>gtT	p.V288V	CYB5RL_uc001cww.3_Silent_p.V178V|CYB5RL_uc001cwy.4_Silent_p.V140V|CYB5RL_uc001cwx.4_Non-coding_Transcript	NM_001031672	NP_001026842	Q6IPT4	NB5R5_HUMAN	Homo sapiens cytochrome b5 reductase-like (CYB5RL), mRNA.	288							cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						CCGAGCCACAGACCAGTGCGA	0.547000														40			15		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24433675	24433675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:24433675C>T	uc001bin.4	-	3	453	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	MYOM3_uc001bio.3_Missense_Mutation_p.R97Q|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	97								p.R97*(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTTCTGCCCTCGCTCCTCCAG	0.682000														24			5		0	0	1	0	0
NDUFB9	4715	broad.mit.edu	37	8	125555409	125555409	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:125555409C>T	uc011lim.1	+	1	268	c.183C>T	c.(181-183)acC>acT	p.T61T	NDUFB9_uc003yrg.4_Silent_p.T61T	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa (NDUFB9), nuclear gene encoding mitochondrial protein, mRNA.	61					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	CGAAGGCCACCCAGCTGCTGA	0.473000														82			23		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10088055	10088055	+	Missense_Mutation	SNP	C	T	T	rs148194988	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:10088055C>T	uc002mmq.1	-	42	3306	c.3220G>A	c.(3220-3222)Gag>Aag	p.E1074K		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1074	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCCCCTTCCTCGCCAGAAGGC	0.652000														279			97		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127610313	127610313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:127610313C>T	uc003kuu.3	-	59	8096	c.7657G>A	c.(7657-7659)Ggg>Agg	p.G2553R		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2553	EGF-like 43; calcium-binding.				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)		CAGGTAAACCCCCCCAGGGTG	0.418000														37			27		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168093669	168093669	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:168093669G>A	uc010jjg.3	-	35	4803	c.4383C>T	c.(4381-4383)gtC>gtT	p.V1461V	SLIT3_uc003mab.3_Silent_p.V1454V	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1454	CTCK.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCACCTCTCGGACTACTTGTC	0.597000														66			35		0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21295998	21295998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:21295998C>T	uc001bec.3	-	6	771	c.515G>A	c.(514-516)gGa>gAa	p.G172E	EIF4G3_uc010odi.2_5'UTR|EIF4G3_uc010odj.2_Missense_Mutation_p.G172E|EIF4G3_uc009vpz.3_Missense_Mutation_p.G172E|EIF4G3_uc001bef.3_Missense_Mutation_p.G172E|EIF4G3_uc001bee.3_Missense_Mutation_p.G179E|EIF4G3_uc001beg.3_Missense_Mutation_p.G172E|EIF4G3_uc010odk.2_Missense_Mutation_p.G172E|EIF4G3_uc001beh.3_Missense_Mutation_p.G183E	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	172					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CGTGGGTCTTCCTATGGGTGG	0.458000														75			29		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963843	73963843	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:73963843C>T	uc004eby.3	-	2	1166	c.549G>A	c.(547-549)ggG>ggA	p.G183G		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	183					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	p.G183G(2)		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						TACACTGAATCCCTATATCAG	0.458000														33			21		0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21918790	21918790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:21918790C>T	uc001rff.3	-	2	1480	c.1142G>A	c.(1141-1143)aGg>aAg	p.R381K		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	381						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	GTTGCGCTTCCTCAGAGAATT	0.458000														130			42		0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47961709	47961709	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:47961709C>T	uc002zjo.2	+	17	2260	c.2077C>T	c.(2077-2079)Ctg>Ttg	p.L693L	DIP2A_uc011afy.1_Silent_p.L629L|DIP2A_uc011afz.1_Silent_p.L689L|DIP2A_uc002zjl.3_Silent_p.L693L|DIP2A_uc002zjm.3_Silent_p.L693L|DIP2A_uc010gql.3_Silent_p.L650L|DIP2A_uc002zjn.3_Silent_p.L693L|DIP2A_uc002zjp.1_Silent_p.L438L|DIP2A_uc002zjq.3_Silent_p.L85L	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	693					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		AAAAGCAGTCCTGTCGATGAA	0.488000														83			33		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72127655	72127655	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:72127655G>C	uc003xyu.3	-	15	2204	c.1564C>G	c.(1564-1566)Cca>Gca	p.P522A	EYA1_uc003xyt.4_Missense_Mutation_p.P489A|EYA1_uc003xyr.4_Missense_Mutation_p.P487A|EYA1_uc010lzf.3_Missense_Mutation_p.P449A|EYA1_uc003xys.4_Missense_Mutation_p.P522A|EYA1_uc011lfe.2_Missense_Mutation_p.P516A|EYA1_uc003xyv.3_Missense_Mutation_p.P400A	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	522					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTTTCTATTGGAAATACAATT	0.353000														67			17		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125900131	125900131	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:125900131C>T	uc001uhe.1	+	2	1007	c.999C>T	c.(997-999)gaC>gaT	p.D333D	TMEM132B_uc021rgl.1_Silent_p.D223D	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	333						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCAGTGAGGACCAATGGGCAG	0.502000														97			30		0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55714733	55714733	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:55714733C>T	uc010spi.2	+	0	350	c.350C>T	c.(349-351)tCc>tTc	p.S117F		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S117S(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GCTGCCATGTCCTATGACCGC	0.408000														26			11		0	0	1	0	0
SHCBP1	79801	broad.mit.edu	37	16	46617964	46617964	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:46617964G>A	uc002eec.4	-	10	1542	c.1502C>T	c.(1501-1503)aCc>aTc	p.T501I		NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN	Homo sapiens SHC SH2-domain binding protein 1 (SHCBP1), mRNA.	501										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				GTCACTCAGGGTGCACTGACT	0.423000														14			7		0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26533851	26533851	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:26533851C>T	uc002rhe.4	-	10	2745	c.2745G>A	c.(2743-2745)ggG>ggA	p.G915G	GPR113_uc010yky.1_Silent_p.G846G|GPR113_uc002rhb.1_Silent_p.G518G|GPR113_uc010eyk.1_Silent_p.G716G|GPR113_uc002rhc.1_Silent_p.G518G|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	915					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCAGCATTCCCCCTCCCTCA	0.612000														24			14		0	0	1	0	0
CRLF1	9244	broad.mit.edu	37	19	18705159	18705159	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:18705159G>T	uc010ebt.2	-	6	1304	c.1110C>A	c.(1108-1110)ttC>ttA	p.F370L		NM_004750	NP_004741	O75462	CRLF1_HUMAN	Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA.	370					negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GCCAGCCCAGGAACTGCTTGA	0.711000														39			31		1.08312e-15	1.09343e-15	1	1	0
CEACAM20	125931	broad.mit.edu	37	19	45016134	45016134	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:45016134T>C	uc010ejn.1	-	9	1532	c.1516A>G	c.(1516-1518)Agc>Ggc	p.S506G	CEACAM20_uc010ejo.1_Missense_Mutation_p.S506G|CEACAM20_uc010ejp.1_Missense_Mutation_p.S413G|CEACAM20_uc010ejq.1_Missense_Mutation_p.S413G	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	506						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGACTCAGGCTTTCTAGAAAA	0.522000														67			43		0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52863587	52863587	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:52863587C>T	uc001sal.4	-	6	1339	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	431	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		AGGGCATCCTCCAGCCCTTCC	0.597000														91			40		0	0	1	0	0
MID2	11043	broad.mit.edu	37	X	107170186	107170186	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:107170186C>T	uc004enl.3	+	9	2664	c.2091C>T	c.(2089-2091)tcC>tcT	p.S697S	MID2_uc004enk.3_Silent_p.S667S	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	697	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GGAACAAATCCCTAATGATCC	0.448000														40			29		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1511998	1511998	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:1511998G>A	uc003skn.2	-	43	6196	c.6095C>T	c.(6094-6096)cCc>cTc	p.P2032L		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	2032					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCTGACCAGGGGCAAGGAGCC	0.672000														10			3		0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5248179	5248179	+	Missense_Mutation	SNP	C	T	T	rs33972975		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:5248179C>T	uc001mae.1	-	0	123	c.73G>A	c.(73-75)Ggt>Agt	p.G25S	CoTC_ribozyme_uc021qcu.1_5'Flank	NM_000518	NP_000509	P68871	HBB_HUMAN	Homo sapiens hemoglobin, beta (HBB), mRNA.	25			G -> D (in Moscva; O(2) affinity down; unstable).|G -> R (in Riverdale-Bronx; O(2) affinity up; unstable).|G -> V (in Savannah; unstable).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	GCCTCACCACCAACTTCATCC	0.512000									Sickle Cell Trait					43			18		0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177902403	177902403	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:177902403G>A	uc001glj.1	-	26	3638	c.2772C>T	c.(2770-2772)acC>acT	p.T924T	SEC16B_uc001glk.1_Silent_p.T600T|SEC16B_uc009wwy.1_Silent_p.T478T|SEC16B_uc001glh.1_Silent_p.T582T|SEC16B_uc001gli.1_Silent_p.T923T|SEC16B_uc009wwz.1_Silent_p.T582T	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	923					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						ATGCGTTCTTGGTGGGCTTCG	0.577000														16			7		0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37443540	37443540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:37443540C>T	uc002rpz.3	-	6	2260	c.2230G>A	c.(2230-2232)Ggg>Agg	p.G744R		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	744					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				AGTGGGTCCCCTGAATACTGA	0.358000														143			55		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112525136	112525136	+	Silent	SNP	C	T	T	rs74392775		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:112525136C>T	uc001ebu.1	-	1	693	c.213G>A	c.(211-213)aaG>aaA	p.K71K	KCND3_uc001ebv.1_Silent_p.K71K	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	71						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	p.E70*(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		AGAAGAACTCCTTCTCCGTGC	0.607000														97			98		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94940786	94940786	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:94940786G>A	uc003uns.3	-	4	571	c.474C>T	c.(472-474)acC>acT	p.T158T	PON1_uc011kih.2_Silent_p.T158T	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	158					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)	TATGTCTGATGGTTTTTAGAT	0.378000														109			40		0	0	1	0	0
PPP1R10	5514	broad.mit.edu	37	6	30573710	30573710	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:30573710G>A	uc003nqn.1	-	9	1395	c.843C>T	c.(841-843)atC>atT	p.I281I	PPP1R10_uc010jsc.1_5'UTR	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	281	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCTGTGGCGGGATGATCTTCA	0.453000														514			232		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13759062	13759062	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13759062G>A	uc003jfd.2	-	60	10354	c.10312C>T	c.(10312-10314)Ctc>Ttc	p.L3438F	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3438	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.H3437N(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)					ATGGCCAGGAGATGGCGATTC	0.547000									Kartagener syndrome					110			51		0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103296	52103296	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:52103296G>A	uc001jje.3	-	6	1533	c.579C>T	c.(577-579)atC>atT	p.I193I	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Silent_p.I193I|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Silent_p.I193I|SGMS1_uc021pqo.1_Silent_p.I193I|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	199					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GTCCTACAAGGATCATGCCAT	0.408000														40			21		0	0	1	0	0
CPLX3	594855	broad.mit.edu	37	15	75122657	75122657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:75122657G>A	uc002ayu.1	+	2	1667	c.439G>A	c.(439-441)Gat>Aat	p.D147N		NM_001030005	NP_001025176	Q8WVH0	CPLX3_HUMAN	Homo sapiens complexin 3 (CPLX3), mRNA.	147						cell junction|synapse	syntaxin binding			large_intestine(2)|lung(2)	4						CACACTGGGGGATCTCAAGCA	0.602000														55			21		0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713587	70713587	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:70713587C>T	uc010ttg.2	-	0	932	c.281G>A	c.(280-282)gGa>gAa	p.G94E						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		GAAAACATTTCCTTGATTCCA	0.378000														91			31		0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34652410	34652410	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:34652410C>T	uc001zig.3	-	12	1238	c.1144_splice	c.e12-1	p.D382_splice		NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA.	382					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CCCTTGGTATCCTGGTGTGAA	0.557000														78			33		0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37606422	37606422	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:37606422C>G	uc003onu.1	-	14	3737	c.2558G>C	c.(2557-2559)cGg>cCg	p.R853P	MDGA1_uc003onv.1_Missense_Mutation_p.R122P	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	853	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GTTCCGGGACCGCACCAGGAG	0.617000														31			8		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72190486	72190486	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:72190486C>T	uc001xms.3	+	15	4755	c.4394C>T	c.(4393-4395)tCc>tTc	p.S1465F	SIPA1L1_uc001xmt.3_Missense_Mutation_p.S1444F|SIPA1L1_uc001xmu.3_Missense_Mutation_p.S1444F|SIPA1L1_uc001xmv.3_Missense_Mutation_p.S1465F|SIPA1L1_uc010ttm.2_Missense_Mutation_p.S919F	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1465	Ser-rich.				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)		tcctcttcctcctcctcctcT	0.552000														145			60		0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157737065	157737065	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:157737065C>T	uc001fre.2	-	5	1177	c.1118G>A	c.(1117-1119)gGc>gAc	p.G373D	FCRL2_uc001frd.2_Missense_Mutation_p.G120D|FCRL2_uc010phz.1_Missense_Mutation_p.G373D|FCRL2_uc009wsp.2_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	373	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	SH3/SH2 adaptor activity|receptor activity	p.N372S(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGCCCCCAGGCCGTTGTTGGC	0.577000														131			49		0	0	1	0	0
TPH1	7166	broad.mit.edu	37	11	18054885	18054885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:18054885G>A	uc001mnp.2	-	2	364	c.338C>T	c.(337-339)tCt>tTt	p.S113F	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	113					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	GTCCAGGTCAGAAATCTTCTT	0.328000														258			44		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110471946	110471946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:110471946G>A	uc003yne.3	+	46	7231	c.7127G>A	c.(7126-7128)gGa>gAa	p.G2376E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2376					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.L2375L(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)			CTCCCTGATGGAACTCTGTTT	0.363000										HNSCC(38;0.096)				10			7		0	0	1	0	0
OR1I1	126370	broad.mit.edu	37	19	15198369	15198369	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:15198369C>T	uc010xoe.2	+	0	493	c.493C>T	c.(493-495)Caa>Taa	p.Q165*		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CCTCATGGCTCAACTGACCTT	0.562000														129			39		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177245506	177245506	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:177245506G>A	uc001glf.3	+	5	1260	c.948G>A	c.(946-948)atG>atA	p.M316I	FAM5B_uc010pna.1_Missense_Mutation_p.M66I|FAM5B_uc001glg.3_Missense_Mutation_p.M211I	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	316						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						TCCAGGCCATGGAGGACAGCC	0.577000														68			25		0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12942930	12942930	+	Missense_Mutation	SNP	G	A	A	rs76269416		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:12942930G>A	uc001aun.2	-	1	357	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	96										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		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)		CACCTGGGACGAACCCCTAGG	0.622000														18			19		0	0	1	0	0
PHOX2B	8929	broad.mit.edu	37	4	41748160	41748160	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:41748160G>A	uc003gwf.4	-	2	969	c.609C>T	c.(607-609)aaC>aaT	p.N203N		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.	203					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						TGGGGGTGGGGTTGGGATTGG	0.736000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					77			20		0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149460515	149460515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:149460515C>T	uc003lrl.3	-	1	317	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	CSF1R_uc011dcd.2_5'UTR|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Missense_Mutation_p.R41Q|CSF1R_uc011dce.1_Missense_Mutation_p.R41Q|CSF1R_uc011dcf.2_Missense_Mutation_p.R41Q	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	41	Ig-like C2-type 1.				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)	GCCCACACATCGCAAGGTCAC	0.597000														25			20		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32053761	32053761	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:32053761C>T	uc003nzl.2	-	6	3116	c.2914G>A	c.(2914-2916)Gat>Aat	p.D972N		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1059	Fibronectin type-III 2.				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						CCTGTCTCATCTCTGCCCAGC	0.687000														233			101		0	0	1	0	0
MARCH5	54708	broad.mit.edu	37	10	94109449	94109449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:94109449G>A	uc001khx.1	+	4	907	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	MARCH5_uc010qno.1_Missense_Mutation_p.R88Q	NM_017824	NP_060294	Q9NX47	MARH5_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 5 (MARCH5), mRNA.	192					cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding	p.R192R(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CCTGTTCCTCGAATTCCAGCT	0.413000														202			154		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052351	44052351	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:44052351G>A	uc001jaw.4	-	1	1830	c.1177C>T	c.(1177-1179)Cat>Tat	p.H393Y	ZNF239_uc001jax.4_Missense_Mutation_p.H393Y|ZNF239_uc009xmj.3_Missense_Mutation_p.H393Y|ZNF239_uc009xmk.3_Missense_Mutation_p.H393Y|ZNF239_uc021pph.1_Missense_Mutation_p.H393Y	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ACTCTGAGATGGATGCGAAGA	0.517000														37			28		0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237476	56237476	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:56237476G>A	uc010rjk.2	-	0	539	c.498C>T	c.(496-498)ttC>ttT	p.F166F	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y165Y(1)|p.F166V(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TTTTTCCACAGAAGTACAAGC	0.398000														39			30		0	0	1	0	0
ZNF85	7639	broad.mit.edu	37	19	21132809	21132809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:21132809C>T	uc002npg.4	+	3	1637	c.1489C>T	c.(1489-1491)Ctt>Ttt	p.L497F	ZNF85_uc010ecn.3_Missense_Mutation_p.L432F|ZNF85_uc010eco.3_Missense_Mutation_p.L445F|ZNF85_uc002npi.3_Missense_Mutation_p.L438F	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	Homo sapiens zinc finger protein 85 (ZNF85), transcript variant 1, mRNA.	497						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GCCCTCAACCCTTACTATCCA	0.348000														46			42		0	0	1	0	0
NPIPL2	440348	broad.mit.edu	37	16	74419271	74419271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:74419271G>A	uc010vmt.1	+	1	99	c.98G>A	c.(97-99)cGa>cAa	p.R33Q				C9J9U8	C9J9U8_HUMAN	RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;	94										endometrium(5)|kidney(3)|lung(1)|prostate(8)	17						TTCTGGTCTCGAAATGGACAT	0.473000														207			38		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237780760	237780760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:237780760G>A	uc001hyl.1	+	37	6010	c.5890G>A	c.(5890-5892)Gaa>Aaa	p.E1964K		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1964	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)			GAAGACAAAGGAATTTAGATC	0.398000														66			33		0	0	1	0	0
OCA2	4948	broad.mit.edu	37	15	28096618	28096618	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:28096618G>A	uc001zbh.4	-	21	2358	c.2248C>T	c.(2248-2250)Ccc>Tcc	p.P750S	OCA2_uc010ayv.3_Missense_Mutation_p.P726S	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	750					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGAGCACGGGAATCTGTGGA	0.567000									Oculocutaneous Albinism					23			9		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47860833	47860833	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:47860833G>A	uc002zji.4	+	42	9566	c.9459G>A	c.(9457-9459)aaG>aaA	p.K3153K	PCNT_uc002zjj.3_Silent_p.K2956K	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	3153	Interaction with NEK2.				G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TTTATCAAAAGAAGTATCTTT	0.368000														143			42		0	0	1	0	0
NUMB	8650	broad.mit.edu	37	14	73751034	73751034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:73751034G>A	uc001xny.1	-	9	1024	c.704C>T	c.(703-705)aCt>aTt	p.T235I	NUMB_uc010aro.1_Intron|NUMB_uc010arp.1_Intron|NUMB_uc010arq.1_Intron|NUMB_uc010arr.1_Intron|NUMB_uc001xoa.1_Missense_Mutation_p.T235I|NUMB_uc001xnz.1_Missense_Mutation_p.T224I|NUMB_uc001xob.1_Missense_Mutation_p.T224I|NUMB_uc001xod.1_Missense_Mutation_p.T235I|NUMB_uc001xoc.1_Missense_Mutation_p.T235I|NUMB_uc010ars.1_Missense_Mutation_p.T224I|NUMB_uc001xof.1_Missense_Mutation_p.T199I|NUMB_uc001xog.3_Missense_Mutation_p.T221I|NUMB_uc010ttz.1_5'UTR	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	Homo sapiens numb homolog (Drosophila) (NUMB), transcript variant 1, mRNA.	235					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GGATGGGGCAGTGTTGCCAGG	0.478000														155			70		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73015504	73015504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:73015504C>T	uc001sxa.3	+	14	2543	c.2513C>T	c.(2512-2514)tCa>tTa	p.S838L		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	838					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						ACACTTATTTCAGATTGGATT	0.393000														27			4		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13931251	13931251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13931251C>T	uc003jfd.2	-	1	202	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	54	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E54K(4)		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)					TCCTCCACTTCGGTTTTGTTC	0.488000									Kartagener syndrome					79			30		0	0	1	0	0
C3orf27	23434	broad.mit.edu	37	3	128292266	128292266	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:128292266G>A	uc021xdl.1	-	0	307	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L	C3orf27_uc003ekq.3_Silent_p.L103L	NM_007354	NP_031380	O15544	GR6_HUMAN	Homo sapiens chromosome 3 open reading frame 27 (C3orf27), mRNA.	103								p.L103V(2)		large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		TGGCACAGCAGAGTCCTGGCA	0.577000														112			80		0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94935600	94935600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:94935600C>T	uc001ydf.3	-	1	793	c.632G>A	c.(631-633)gGc>gAc	p.G211D	SERPINA9_uc001yde.3_Missense_Mutation_p.G111D|SERPINA9_uc010avc.3_Missense_Mutation_p.G62D|SERPINA9_uc001ydg.3_Missense_Mutation_p.G175D|SERPINA9_uc001ydh.1_Missense_Mutation_p.G211D|SERPINA9_uc001ydi.1_Missense_Mutation_p.G175D	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	193					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AAGGTCAAGGCCTTGGATTAT	0.408000														247			83		0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88945806	88945806	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:88945806G>A	uc001xwv.4	-	12	2300	c.1969C>T	c.(1969-1971)Cta>Tta	p.L657L	PTPN21_uc010twc.2_Silent_p.L453L	NM_007039	NP_008970	Q16825	PTN21_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA.	657						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GACGCGGATAGGGTGCGCTCC	0.721000														36			14		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554679	140554679	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140554679G>A	uc003lit.3	+	0	2437	c.2263G>A	c.(2263-2265)Gga>Aga	p.G755R	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	755					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCCTGACTGGAGGCTCCGG	0.562000														419			69		0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140407357	140407357	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:140407357G>A	uc003eto.2	+	2	2039	c.1833G>A	c.(1831-1833)caG>caA	p.Q611Q		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	611	Fibronectin type-III.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTATCTACCAGACTCTGGTGT	0.532000														171			38		0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111061260	111061260	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:111061260C>T	uc001dzt.1	-	0	538	c.150G>A	c.(148-150)aaG>aaA	p.K50K		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	50						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)		TGATGAGGATCTTCCCGTTGG	0.557000														144			25		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48691867	48691867	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:48691867G>A	uc003cuf.1	-	8	5217	c.5217C>T	c.(5215-5217)ggC>ggT	p.G1739G	CELSR3_uc010hkg.3_5'Flank|CELSR3_uc003cul.3_Silent_p.G1669G	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1669	EGF-like 4; calcium-binding.				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)		GAAGAAGAGGGCCCGTCAGGT	0.632000														43			26		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32010301	32010301	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:32010301G>A	uc003nzl.2	-	39	12337	c.12135C>T	c.(12133-12135)ttC>ttT	p.F4045F	TNXB_uc003nzg.1_Silent_p.F476F|TNXB_uc003nzh.1_Silent_p.F514F	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	4092	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						TGCCGTTGAGGAAGATGGTGC	0.662000														205			62		0	0	1	0	0
EIF3IP1	442720	broad.mit.edu	37	7	109599808	109599808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:109599808G>A	uc003vfp.1	-	0	463	c.290C>T	c.(289-291)tCt>tTt	p.S97F						Homo sapiens eukaryotic translation initiation factor 3, subunit I pseudogene 1 (EIF3IP1), non-coding RNA.																		AGTGATTTTAGAGTCACTGCA	0.498000														25			12		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11770145	11770145	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:11770145C>T	uc002rbk.1	+	25	4821	c.4521C>T	c.(4519-4521)ttC>ttT	p.F1507F	GREB1_uc002rbp.1_Silent_p.F505F	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	1507						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGCTGCACTTCATCATCCCCA	0.567000														135			64		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515209	56515209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:56515209G>A	uc002qmj.3	+	1	190	c.190G>A	c.(190-192)Ggg>Agg	p.G64R	NLRP5_uc002qmi.3_Missense_Mutation_p.G64R	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	64	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTCCAGCTACGGGCTGCAATG	0.423000														91			50		0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51685437	51685437	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:51685437C>T	uc001ryg.3	-	9	1505	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	BIN2_uc009zlz.3_Missense_Mutation_p.E453K|BIN2_uc001ryh.3_Missense_Mutation_p.E361K|BIN2_uc010sng.2_Missense_Mutation_p.E459K	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	485						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TGGATGTTTTCATTTTCTTTG	0.443000														57			25		0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32491742	32491742	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:32491742G>A	uc001rku.3	+	7	2674	c.2593G>A	c.(2593-2595)Gat>Aat	p.D865N	BICD1_uc001rkv.3_Intron|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	865					RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TTCCCTTTGTGATCAGAGCCG	0.428000														158			74		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117968819	117968819	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:117968819C>T	uc001two.2	-	12	1698	c.1643_splice	c.e12-1	p.D548_splice		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	577	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCACCACATCTGAAAACCAG	0.547000														168			70		0	0	1	0	0
KRTAP12-2	353323	broad.mit.edu	37	21	46086797	46086797	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:46086797G>A	uc002zfu.3	-	0	48	c.7C>T	c.(7-9)Cat>Tat	p.H3Y	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181684	NP_859012	P59991	KR122_HUMAN	Homo sapiens keratin associated protein 12-2 (KRTAP12-2), mRNA.	3						keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						CAGCTGGTATGACACATGGTG	0.667000														30			13		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47629093	47629093	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:47629093C>G	uc001rpq.3	+	1	772	c.247C>G	c.(247-249)Cgc>Ggc	p.R83G	FAM113B_uc001rpn.3_Missense_Mutation_p.R83G|FAM113B_uc021qxi.1_Missense_Mutation_p.R83G	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	83							hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					CCGCGAGTTCCGCTCCGACCA	0.597000														154			45		0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39249723	39249723	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:39249723G>A	uc002rrk.4	-	9	1887	c.1846C>T	c.(1846-1848)Cat>Tat	p.H616Y	SOS1_uc010ynr.1_Non-coding_Transcript|SOS1_uc002rrj.4_Missense_Mutation_p.H230Y|SOS1_uc002rrl.3_Missense_Mutation_p.H348Y	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	616	N-terminal Ras-GEF.				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)				GCGTACATATGGTACGTAAGC	0.368000									Noonan syndrome					26			17		0	0	1	0	0
TRIM35	23087	broad.mit.edu	37	8	27145626	27145626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:27145626G>A	uc003xfl.1	-	5	1005	c.923C>T	c.(922-924)cCc>cTc	p.P308L	TRIM35_uc010lup.1_3'UTR	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	Homo sapiens tripartite motif containing 35 (TRIM35), transcript variant 2, mRNA.	308	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		TGCGGTGTTGGGGTCAAAGCT	0.597000														65			39		0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124732623	124732623	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:124732623G>A	uc011bke.2	-	6	2168	c.2100C>T	c.(2098-2100)tcC>tcT	p.S700S	HEG1_uc003ehs.4_Silent_p.S600S	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	600	Ser-rich.					extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CATGAAAAAAGGAGGAATACT	0.413000														72			31		0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142840669	142840669	+	Silent	SNP	G	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:142840669G>T	uc003evm.3	+	1	1950	c.1011G>T	c.(1009-1011)gtG>gtT	p.V337V	CHST2_uc021xex.1_Silent_p.V337V	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	337					N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CCCGCGCGGTGGCGAGTTCAC	0.682000														31			9		5.4927e-09	5.53141e-09	1	1	0
TACC2	10579	broad.mit.edu	37	10	123989947	123989947	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:123989947G>A	uc001lfv.3	+	15	8479	c.8119G>A	c.(8119-8121)Gat>Aat	p.D2707N	TACC2_uc001lfw.3_Missense_Mutation_p.D853N|TACC2_uc009xzx.3_Intron|TACC2_uc010qtv.2_Intron|TACC2_uc001lfx.3_Intron|TACC2_uc001lfy.3_Intron|TACC2_uc001lfz.3_Missense_Mutation_p.D785N|TACC2_uc001lga.3_Intron|TACC2_uc009xzy.3_Intron|TACC2_uc001lgb.3_Intron	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2707						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGCCACCAGGATGCCAAGGT	0.602000														65			49		0	0	1	0	0
KIAA0240	23506	broad.mit.edu	37	6	42819858	42819858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:42819858C>T	uc003osn.1	+	6	2019	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F	KIAA0240_uc003osm.1_Missense_Mutation_p.S623F|KIAA0240_uc011duw.1_Missense_Mutation_p.S623F|KIAA0240_uc003osp.1_Missense_Mutation_p.S623F	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	623										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			AATCAGACTTCCCCCATTTCT	0.438000														60			14		0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83182697	83182697	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:83182697G>A	uc001paj.2	-	18	2406	c.2103C>T	c.(2101-2103)ttC>ttT	p.F701F	DLG2_uc001pai.2_Silent_p.F580F|DLG2_uc010rsy.1_Silent_p.F650F|DLG2_uc021qof.1_Silent_p.F740F|DLG2_uc010rsz.1_Silent_p.F697F|DLG2_uc010rta.1_Silent_p.F683F|DLG2_uc001pak.2_Silent_p.F806F|DLG2_uc010rtb.1_Silent_p.F668F|DLG2_uc010rsx.1_Silent_p.F178F|DLG2_uc010rsw.1_Silent_p.F165F	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	701	Guanylate kinase-like.					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)				ATTTATCAGGGAATTCAGATA	0.423000														8			11		0	0	1	0	0
PDE4D	5144	broad.mit.edu	37	5	59284325	59284325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:59284325C>T	uc003jsb.3	-	2	508	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	PDE4D_uc010iwj.2_Missense_Mutation_p.E88K|PDE4D_uc003jse.1_Missense_Mutation_p.E100K	NM_001165899	NP_001184150	Q08499	PDE4D_HUMAN	Homo sapiens phosphodiesterase 4D, cAMP-specific (PDE4D), transcript variant 3, mRNA.	0	Pro-rich.				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CCACTGGATTCTGCAGAAGTG	0.443000														21			23		0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47777253	47777253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:47777253C>T	uc002lee.2	-	4	962	c.871G>A	c.(871-873)Gcc>Acc	p.A291T		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	291										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TCTTGTAGGGCTTTTTGCAAA	0.418000														220			165		0	0	1	0	0
PLEKHF1	79156	broad.mit.edu	37	19	30165443	30165443	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:30165443C>T	uc002nsi.4	+	1	1050	c.952C>T	c.(952-954)Cac>Tac	p.H318Y	PLEKHF1_uc002nsh.4_Missense_Mutation_p.H233Y|PLEKHF1_uc021ury.1_Missense_Mutation_p.H233Y	NM_024310	NP_077286	Q96S99	PKHF1_HUMAN	Homo sapiens pleckstrin homology domain containing, family F (with FYVE domain) member 1 (PLEKHF1), mRNA.	233					apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|lung(3)|ovary(1)|prostate(1)	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)			GCAGCCAGCCCACCTGGCCCG	0.726000														7			5		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49225247	49225247	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:49225247C>T	uc010zyt.2	-	9	964	c.713G>A	c.(712-714)tGg>tAg	p.W238*	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Nonsense_Mutation_p.W234*|FAM65C_uc002xvn.1_Nonsense_Mutation_p.W234*	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	234										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						CTTGAGCTTCCAACGCTGGCG	0.647000														159			65		0	0	1	0	0
ANKRD26P3	100101938	broad.mit.edu	37	13	19868687	19868687	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:19868687C>T	uc010tck.2	-	12		c.1941G>A								Homo sapiens ankyrin repeat domain 26 pseudogene 3 (ANKRD26P3), non-coding RNA.																		CCTGAGAATTCCTTTTCCTTC	0.363000														3			3		0	0	1	0	0
QKI	9444	broad.mit.edu	37	6	163836228	163836228	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:163836228G>A	uc003qui.3	+	0	554	c.3G>A	c.(1-3)atG>atA	p.M1I	QKI_uc003quj.3_Missense_Mutation_p.M1I|QKI_uc003quh.3_Missense_Mutation_p.M1I|QKI_uc003que.3_Missense_Mutation_p.M1I|QKI_uc003quf.3_Missense_Mutation_p.M1I|QKI_uc003qug.3_Missense_Mutation_p.M1I|CAHM_uc021zib.1_5'Flank	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	1					RNA splicing|mRNA processing|mRNA transport|regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		CCTGGAATATGGTCGGGGAAA	0.682000														23			16		0	0	1	0	0
CLDN3	1365	broad.mit.edu	37	7	73184241	73184241	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:73184241C>T	uc003tzg.4	-	0	360	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_001306	NP_001297	O15551	CLD3_HUMAN	Homo sapiens claudin 3 (CLDN3), mRNA.	47					response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				CACAGGCCCTCCCAGATGTTC	0.647000														61			25		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190250853	190250853	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:190250853G>A	uc001gse.1	-	2	496	c.264C>T	c.(262-264)aaC>aaT	p.N88N	FAM5C_uc010pot.1_Intron	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	88						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)					CAACTGCAAGGTTATTTACTT	0.408000														22			8		0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126915582	126915582	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:126915582C>T	uc003eji.1	+	1	294	c.54C>T	c.(52-54)ttC>ttT	p.F18F						RecName: Full=Putative uncharacterized protein C3orf56;											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		GCCGTGCCTTCGAGGCCTCCG	0.612000														29			14		0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51285609	51285609	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:51285609G>A	uc001zyx.2	+	16	2240	c.2133G>A	c.(2131-2133)ggG>ggA	p.G711G	AP4E1_uc021skz.1_Silent_p.G636G	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	711					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AATTGTGGGGGAAAGAAGGCT	0.378000														35			20		0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51920720	51920720	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:51920720C>T	uc002pwo.3	-	2	260	c.38_splice	c.e2-1	p.G13_splice	SIGLEC10_uc002pwp.3_Splice_Site_p.G13_splice|SIGLEC10_uc021uyl.1_Splice_Site_p.G13_splice|SIGLEC10_uc002pwq.3_Splice_Site_p.G13_splice|SIGLEC10_uc010ycz.2_Splice_Site_p.G13_splice|SIGLEC10_uc002pws.2_Splice_Site_p.G13_splice|SIGLEC10_uc002pwr.3_Splice_Site_p.G13_splice|SIGLEC10_uc010ycy.2_Splice_Site_p.G13_splice|SIGLEC10_uc010eow.3_Intron	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	13					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GCCTGGGACCCTGTGGGGAGA	0.637000														67			39		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41149420	41149420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:41149420C>T	uc003jmk.2	-	16	2756	c.2546G>A	c.(2545-2547)aGg>aAg	p.R849K	C6_uc003jml.1_Missense_Mutation_p.R849K	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	849	C5b-binding domain.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.R849R(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AAGTCTTGTCCTTTCAAGACC	0.418000														130			37		0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146700653	146700653	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:146700653C>T	uc003ikn.3	-	8	2442	c.2394G>A	c.(2392-2394)aaG>aaA	p.K798K	ZNF827_uc003ikm.3_Silent_p.K798K|ZNF827_uc010iox.3_Silent_p.K448K|ZNF827_uc003ikl.3_5'UTR	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	798					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)					CTAGGACTATCTTTTCTGTTT	0.418000														58			38		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108751586	108751586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:108751586G>A	uc003dxl.3	-	15	1633	c.1546C>T	c.(1546-1548)Ccc>Tcc	p.P516S	MORC1_uc011bhn.2_Missense_Mutation_p.P516S	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	516					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						AAGCGGTTGGGATTATTAGCA	0.289000														37			26		0	0	1	0	0
PHTF2	57157	broad.mit.edu	37	7	77583174	77583174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:77583174C>T	uc003ugs.4	+	17	2426	c.2300C>T	c.(2299-2301)tCt>tTt	p.S767F	PHTF2_uc010ldv.3_Missense_Mutation_p.S677F|PHTF2_uc003ugq.4_Missense_Mutation_p.S729F|PHTF2_uc003ugt.4_Missense_Mutation_p.S733F|PHTF2_uc003ugu.4_Missense_Mutation_p.S729F|PHTF2_uc022agp.1_Missense_Mutation_p.S767F	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA.	767	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TCAGCTGTTTCTGGTGTTATC	0.383000														44			29		0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12027068	12027068	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:12027068C>T	uc010obb.2	+	16	1929	c.1816C>T	c.(1816-1818)Ccc>Tcc	p.P606S	PLOD1_uc001atm.3_Missense_Mutation_p.P559S	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA.	559					epidermis development|hydroxylysine biosynthetic process|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 homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	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;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTATTGGTTCCCCATCTTCAC	0.607000														166			40		0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55361597	55361597	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:55361597C>T	uc002ehy.3	+	3	1046	c.513C>T	c.(511-513)aaC>aaT	p.N171N	IRX6_uc002ehx.3_Silent_p.N171N|IRX6_uc010ccb.1_Non-coding_Transcript	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	171						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						ACCGCAAAAACCCCTACCCCA	0.612000														98			13		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72131527	72131527	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:72131527C>T	uc004ahh.2	-	1	876	c.600G>A	c.(598-600)gaG>gaA	p.E200E		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	200					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CGTCCCCTATCTCCTCGTACA	0.716000														32			15		0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159846350	159846350	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:159846350G>A	uc001fui.3	-	9	1366	c.1348C>T	c.(1348-1350)Ctt>Ttt	p.L450F	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.L365F|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_3'UTR	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	450						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCCTACCGAAGAATCCTCTCG	0.527000														38			12		0	0	1	0	0
GRAP2	9402	broad.mit.edu	37	22	40362074	40362074	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:40362074C>T	uc003ayh.2	+	4	634	c.371C>T	c.(370-372)tCc>tTc	p.S124F	GRAP2_uc011aom.2_Missense_Mutation_p.S98F|GRAP2_uc011aon.2_Missense_Mutation_p.S58F|GRAP2_uc010gya.2_Missense_Mutation_p.S124F|GRAP2_uc011aoo.2_Missense_Mutation_p.S52F|GRAP2_uc011aop.2_Missense_Mutation_p.S84F|GRAP2_uc011aoq.2_Intron|GRAP2_uc003ayj.2_Missense_Mutation_p.S124F	NM_004810	NP_004801	O75791	GRAP2_HUMAN	Homo sapiens GRB2-related adaptor protein 2 (GRAP2), mRNA.	124	SH2.				Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway|cell-cell signaling	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						AAGTTTCCATCCCTAAATAAG	0.453000														117			71		0	0	1	0	0
EIF2C2	27161	broad.mit.edu	37	8	141572557	141572557	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:141572557G>A	uc003yvn.3	-	3	554	c.513C>T	c.(511-513)tcC>tcT	p.S171S	EIF2C2_uc010meo.3_Silent_p.S171S|EIF2C2_uc010men.3_Silent_p.S94S	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	171					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			CTCACCTCATGGATGGCAAGT	0.642000														77			24		0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58579314	58579314	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:58579314C>T	uc002qrg.3	+	3	1537	c.1534C>T	c.(1534-1536)Cac>Tac	p.H512Y	ZNF135_uc002qre.3_Missense_Mutation_p.H488Y|ZNF135_uc002qrf.3_Missense_Mutation_p.H446Y|ZNF135_uc010yhq.2_Missense_Mutation_p.H500Y|ZNF135_uc010yhr.2_Missense_Mutation_p.H309Y|ZNF135_uc002qrd.2_Intron|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	500					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)		CCAGCGAATCCACACAGGGGA	0.572000														43			15		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63904618	63904618	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:63904618G>A	uc002amp.3	-	76	14380	c.14232C>T	c.(14230-14232)taC>taT	p.Y4744Y	HERC1_uc002amo.3_5'Flank	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.	4744	HECT.				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						CCACCTCACGGTACCGCACCA	0.552000														77			22		0	0	1	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71281793	71281793	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:71281793C>T	uc002jjn.3	-	1	994	c.847G>A	c.(847-849)Gat>Aat	p.D283N	CDC42EP4_uc002jjo.3_Missense_Mutation_p.D283N|CDC42EP4_uc002jjp.1_Missense_Mutation_p.D213N|CDC42EP4_uc021ucn.1_Missense_Mutation_p.D283N	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA.	283					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CACCCCTCATCCTCCAGAGCA	0.721000														37			18		0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8132611	8132611	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:8132611C>T	uc010rbm.1	-	5	882	c.828G>A	c.(826-828)gtG>gtA	p.V276V	RIC3_uc001mgb.2_Silent_p.V86V|RIC3_uc010rbl.1_Silent_p.V198V|RIC3_uc001mgd.2_Silent_p.V248V|RIC3_uc001mgc.2_Silent_p.V247V|RIC3_uc009yfm.2_Silent_p.V167V|RIC3_uc001mge.2_Silent_p.V66V|RIC3_uc009yfn.2_Silent_p.V51V	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	248						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)		CAGGGTAATCCACCAAGATTG	0.403000														80			30		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21752268	21752268	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:21752268C>T	uc010iuc.2	-	11	2421	c.1963G>A	c.(1963-1965)Gac>Aac	p.D655N	CDH12_uc011cno.1_Missense_Mutation_p.D615N|CDH12_uc003jgk.2_Missense_Mutation_p.D655N|BC038535_uc003jgj.3_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	655					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D655Y(2)|p.D655H(2)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATGACGTTGTCTCTGATGTCT	0.453000										HNSCC(59;0.17)				47			27		0	0	1	0	0
C16orf59	80178	broad.mit.edu	37	16	2514086	2514086	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:2514086C>T	uc002cqh.3	+	8	1042	c.1011C>T	c.(1009-1011)ccC>ccT	p.P337P	C16orf59_uc002cqg.2_Silent_p.P170P|C16orf59_uc002cqi.3_Silent_p.P170P|C16orf59_uc010uwb.2_Intron	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.	337										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GGAGGCCCCCCGGAGCCTCGC	0.682000														48			15		0	0	1	0	0
TCEAL2	140597	broad.mit.edu	37	X	101382381	101382381	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:101382381G>A	uc022car.1	+	0	579	c.579G>A	c.(577-579)tgG>tgA	p.W193*	TCEAL2_uc004eip.3_Nonsense_Mutation_p.W193*	NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 2 (TCEAL2), mRNA.	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						CGTTTTTGTGGATGCAAAGAA	0.463000														203			113		0	0	1	0	0
MALSU1	115416	broad.mit.edu	37	7	23349140	23349140	+	Missense_Mutation	SNP	C	T	T	rs147835768		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:23349140C>T	uc003swd.1	+	3	715	c.683C>T	c.(682-684)cCa>cTa	p.P228L	MALSU1_uc003swe.3_Non-coding_Transcript	NM_138446	NP_612455	Q96EH3	CG030_HUMAN	Homo sapiens chromosome 7 open reading frame 30 (C7orf30), mRNA.	228						mitochondrion											TCTGTGACTCCAGTGGAGTTA	0.383000														59			8		0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160489	132160489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:132160489G>A	uc011mvf.2	-	0	1812	c.1760C>T	c.(1759-1761)tCa>tTa	p.S587L	USP26_uc010nrm.1_Missense_Mutation_p.S587L	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	587					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.S587S(1)		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)					TGCAGGCCATGATACACTGAT	0.418000														32			22		0	0	1	0	0
SEPT2	4735	broad.mit.edu	37	2	242265433	242265433	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:242265433C>T	uc002wbh.3	+	5	497	c.35C>T	c.(34-36)cCa>cTa	p.P12L	SEPT2_uc002wbc.3_Missense_Mutation_p.P12L|SEPT2_uc002wbd.3_Missense_Mutation_p.P12L|SEPT2_uc002wbf.3_Missense_Mutation_p.P12L|SEPT2_uc002wbg.3_Missense_Mutation_p.P12L|SEPT2_uc010zop.2_Missense_Mutation_p.P47L	NM_006155	NP_006146	Q15019	SEPT2_HUMAN	Homo sapiens septin 2 (SEPT2), transcript variant 2, mRNA.	12					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|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;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TTTATAAATCCAGAAACACCT	0.353000														63			33		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45267263	45267263	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:45267263C>T	uc003jok.3	-	6	1736	c.1711G>A	c.(1711-1713)Gag>Aag	p.E571K		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	571						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.N570Y(2)		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						TCCAGGACCTCGTTGAAATTG	0.428000														124			47		0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913459	6913459	+	Silent	SNP	G	A	A	rs149994988		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:6913459G>A	uc010rau.2	-	0	273	c.273C>T	c.(271-273)gtC>gtT	p.V91V		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	91					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)		TGAATGCAATGACCTTCTTTC	0.463000														37			5		0	0	1	0	0
PTCHD1	139411	broad.mit.edu	37	X	23398358	23398358	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:23398358C>T	uc004dal.4	+	1	1010	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	PTCHD1_uc010nfu.2_Silent_p.F334F	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	334	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GAGTCCCTTTCGTCATGCTAG	0.483000														83			64		0	0	1	0	0
LCLAT1	253558	broad.mit.edu	37	2	30863146	30863146	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:30863146C>T	uc002rnj.3	+	6	1115	c.906C>T	c.(904-906)ctC>ctT	p.L302L	LCLAT1_uc010ymp.2_Silent_p.L140L|LCLAT1_uc002rnl.3_Silent_p.L264L|LCLAT1_uc010ymq.2_Silent_p.L264L	NM_182551	NP_001002257	Q6UWP7	LCLT1_HUMAN	Homo sapiens lysocardiolipin acyltransferase 1 (LCLAT1), transcript variant 1, mRNA.	302					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						ACCTTCAACTCTGGTGCCACA	0.498000														89			49		0	0	1	0	0
STT3A	3703	broad.mit.edu	37	11	125476198	125476198	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:125476198C>T	uc001qcd.2	+	7	728	c.618C>T	c.(616-618)gtC>gtT	p.V206V	STT3A_uc009zbm.2_Silent_p.V206V|STT3A_uc001qce.2_Silent_p.V206V|STT3A_uc010sbg.1_Silent_p.V114V|STT3A_uc009zbn.2_5'UTR	NM_152713	NP_689926	P46977	STT3A_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) (STT3A), mRNA.	206					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		CATCATAGGTCTCGTCATGGG	0.463000														103			52		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2621981	2621981	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:2621981G>A	uc009zdu.1	+	8	1534	c.1221G>A	c.(1219-1221)gaG>gaA	p.E407E	CACNA1C_uc001qkc.2_Silent_p.E407E|CACNA1C_uc001qjz.2_Silent_p.E407E|CACNA1C_uc001qkd.2_Silent_p.E407E|CACNA1C_uc001qke.2_Silent_p.E407E|CACNA1C_uc001qkf.2_Silent_p.E407E|CACNA1C_uc009zdw.1_Silent_p.E407E|CACNA1C_uc001qkg.2_Silent_p.E407E|CACNA1C_uc001qkh.2_Silent_p.E407E|CACNA1C_uc001qkl.2_Silent_p.E407E|CACNA1C_uc001qkj.2_Silent_p.E407E|CACNA1C_uc001qkk.2_Silent_p.E407E|CACNA1C_uc001qkn.2_Silent_p.E407E|CACNA1C_uc001qkm.2_Silent_p.E407E|CACNA1C_uc001qko.2_Silent_p.E407E|CACNA1C_uc001qkp.2_Silent_p.E407E|CACNA1C_uc001qkq.2_Silent_p.E407E|CACNA1C_uc001qku.2_Silent_p.E407E|CACNA1C_uc001qkr.2_Silent_p.E407E|CACNA1C_uc001qks.2_Silent_p.E407E|CACNA1C_uc001qkt.2_Silent_p.E407E|CACNA1C_uc009zdv.1_Silent_p.E404E|CACNA1C_uc001qkb.2_Silent_p.E407E|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Silent_p.E143E|CACNA1C_uc009zdy.1_Silent_p.E32E|CACNA1C_uc001qkv.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	407					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCACCAGAGAGTTTTCCAAAG	0.562000														22			8		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31919130	31919130	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:31919130G>A	uc003nyj.4	+	15	2247	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	CFB_uc011dor.2_Missense_Mutation_p.E1159K	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	657	Peptidase S1.				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						AGGCAGCTGTGAGAGAGATGC	0.532000														275			111		0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20067628	20067628	+	Missense_Mutation	SNP	C	T	T	rs140148307		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:20067628C>T	uc001umd.3	-	2	236	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.E9K|TPTE2_uc001ume.3_Missense_Mutation_p.E9K|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	9						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CCTTTAAATTCGTTTGTCTGT	0.358000														81			50		0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5975479	5975479	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:5975479C>T	uc003git.2	-	3		c.1613G>A						Q6ZRC1	CD050_HUMAN	Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772.											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						GCAGGAGGTTCCCCAGCCCAT	0.627000														91			45		0	0	1	0	0
NUDT7	283927	broad.mit.edu	37	16	77775586	77775586	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:77775586C>T	uc010chd.3	+	3	547	c.456C>T	c.(454-456)ttC>ttT	p.F152F	NUDT7_uc021tlp.1_3'UTR|NUDT7_uc021tlq.1_Silent_p.F137F|NUDT7_uc010vnj.2_Silent_p.F99F	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 7 (NUDT7), transcript variant 1, mRNA.	152	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TGGCCTATTTCCTGCATCCAC	0.458000														115			26		0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110099751	110099751	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:110099751G>A	uc003ymz.4	+	0	99	c.10G>A	c.(10-12)Gag>Aag	p.E4K		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	4						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)			GATGGAAAACGAGACAGTCAG	0.458000														38			7		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57602291	57602291	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:57602291G>A	uc009vzx.1	-	3	551	c.231C>T	c.(229-231)tcC>tcT	p.S77S	DAB1_uc001cyt.1_Silent_p.S77S|DAB1_uc001cyq.1_Silent_p.S77S|DAB1_uc001cyr.1_Silent_p.S77S|DAB1_uc009vzw.1_Silent_p.S77S|DAB1_uc001cys.1_Silent_p.S77S	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	77	PID.				cell differentiation|nervous system development			p.R76H(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GTTCTCCTTTGGAACGAGCGC	0.398000														25			7		0	0	1	0	0
OR1S2	219958	broad.mit.edu	37	11	57970739	57970739	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:57970739C>T	uc010rkb.2	-	0	915	c.915G>A	c.(913-915)ttG>ttA	p.L305L		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA.	305					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)				CCTTATTCCTCAAGCTGTAGA	0.438000														70			47		0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832845	113832845	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:113832845C>T	uc002tiu.3	+	4	438	c.363C>T	c.(361-363)ttC>ttT	p.F121F	IL1F10_uc002tiv.3_Silent_p.F121F|IL1F10_uc002tiw.3_Silent_p.F113F	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	Homo sapiens interleukin 1 family, member 10 (theta) (IL1F10), transcript variant 2, mRNA.	121						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						CTGGCTGGTTCCTGTGTGGCC	0.592000														125			56		0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40772611	40772611	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:40772611C>T	uc004abs.2	-	4	2816	c.2664G>A	c.(2662-2664)ggG>ggA	p.G888G	ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Silent_p.G888G	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	888					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G888V(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGAAAGTCTTCCCACAGTCAT	0.448000														107			36		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183717822	183717822	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:183717822C>T	uc003ivd.1	+	25	7321	c.7246C>T	c.(7246-7248)Cat>Tat	p.H2416Y		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2416					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)		ATTTGGTTTCCATCTGCACAA	0.388000														28			17		0	0	1	0	0
TSPAN18	90139	broad.mit.edu	37	11	44941525	44941525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:44941525G>A	uc001myg.3	+	4	600	c.590G>A	c.(589-591)gGa>gAa	p.G197E	TSPAN18_uc001mye.4_Missense_Mutation_p.G197E|TP53I11_uc001myf.1_Intron	NM_130783	NP_570139	Q96SJ8	TSN18_HUMAN	Homo sapiens tetraspanin 18 (TSPAN18), mRNA.	197						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						TGCCTCCTGGGAAGGAGCCTA	0.637000														97			54		0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22838356	22838356	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:22838356C>T	uc001bft.2	+	11	2701	c.2190C>T	c.(2188-2190)gaC>gaT	p.D730D	ZBTB40_uc001bfu.2_Silent_p.D730D|ZBTB40_uc009vqi.1_Silent_p.D618D|ZBTB40_uc001bfv.1_Silent_p.D359D	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	730					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		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;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CCTCCCCAGACCCTGCCAAGA	0.547000														47			12		0	0	1	0	0
ZNF645	158506	broad.mit.edu	37	X	22292216	22292216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:22292216G>A	uc004dai.2	+	0	1187	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	Homo sapiens zinc finger protein 645 (ZNF645), mRNA.	370						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TCAGTTCACCGAAAATCAAGA	0.448000														76			48		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106237797	106237797	+	RNA	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:106237797G>A	uc001ysh.1	-	0		c.1317C>T			abParts_uc021ser.1_Splice_Site|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron|IGHG1_uc001yse.3_Intron|abParts_uc001ysi.1_Non-coding_Transcript					Homo sapiens mRNA for FLJ00385 protein.																		TGGGCCCAGGGCGCAGAGGCC	0.677000														42			20		0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242174968	242174968	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:242174968G>A	uc002waz.3	-	21	3119	c.2946C>T	c.(2944-2946)gaC>gaT	p.D982D	HDLBP_uc002wba.3_Silent_p.D982D|HDLBP_uc021vzg.1_Silent_p.D949D	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	982	KH 12.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|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;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AACGGTGAAGGTCAAAGGGCA	0.537000														146			56		0	0	1	0	0
TSC22D4	81628	broad.mit.edu	37	7	100075471	100075471	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100075471G>A	uc003uva.3	-	1	946	c.191C>T	c.(190-192)cCa>cTa	p.P64L	TSC22D4_uc011kjv.2_Intron|TSC22D4_uc010lgx.3_Missense_Mutation_p.P64L|TSC22D4_uc003uvc.4_Missense_Mutation_p.P64L	NM_030935	NP_112197	Q9Y3Q8	T22D4_HUMAN	Homo sapiens TSC22 domain family, member 4 (TSC22D4), mRNA.	64					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCCCAGGTGGTGGGGAGCC	0.716000														15			7		0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176696740	176696740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:176696740C>T	uc003mfr.4	+	15	5579	c.5441C>T	c.(5440-5442)cCt>cTt	p.P1814L	NSD1_uc003mft.4_Missense_Mutation_p.P1545L|NSD1_uc003mfs.1_Missense_Mutation_p.P1711L|NSD1_uc011dfx.2_Missense_Mutation_p.P1462L	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1814	PWWP 2.				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)		CGAGTCTTCCCTTACATGGAG	0.443000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				70			46		0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602888	5602888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:5602888G>A	uc010qzi.2	+	0	782	c.782G>A	c.(781-783)gGa>gAa	p.G261E	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTACCTGTGGATCCCATATC	0.488000														273			53		0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74834752	74834752	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:74834752C>T	uc001dge.2	+	15	1738	c.1671C>T	c.(1669-1671)ttC>ttT	p.F557F	FPGT-TNNI3K_uc001dgc.2_Silent_p.F557F|FPGT-TNNI3K_uc001dgd.3_Silent_p.F557F|FPGT-TNNI3K_uc001dgf.2_Silent_p.F456F	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	456	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										CTTCACATTTCCATCTTCAGC	0.353000														21			3		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657596	143657596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:143657596C>T	uc003wds.1	+	0	577	c.533C>T	c.(532-534)tCc>tTc	p.S178F		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					GATCACATATCCTGTGAACTC	0.502000														75			22		0	0	1	0	0
SLC39A10	57181	broad.mit.edu	37	2	196545682	196545682	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:196545682C>T	uc002utg.4	+	1	1130	c.916C>T	c.(916-918)Cga>Tga	p.R306*	SLC39A10_uc002uth.4_Nonsense_Mutation_p.R306*|SLC39A10_uc010zgp.2_5'UTR	NM_001127257	NP_065075	Q9ULF5	S39AA_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA.	306					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.R306*(2)		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)			AGGTGAACTTCGACATACTAG	0.368000														67			25		0	0	1	0	0
ZNF362	149076	broad.mit.edu	37	1	33736189	33736189	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:33736189C>T	uc001bxc.1	+	1	184	c.14C>T	c.(13-15)tCa>tTa	p.S5L		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	Homo sapiens zinc finger protein 362 (ZNF362), mRNA.	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				agtagaagttcaccaagtggg	0.498000														160			55		0	0	1	0	0
ADCK3	56997	broad.mit.edu	37	1	227153028	227153028	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:227153028C>T	uc001hqm.1	+	7	3924	c.505C>T	c.(505-507)Cct>Tct	p.P169S	ADCK3_uc010pvp.1_Missense_Mutation_p.P132S|ADCK3_uc001hqn.1_Missense_Mutation_p.P169S|ADCK3_uc009xeq.1_Missense_Mutation_p.P117S|ADCK3_uc010pvq.1_Intron|ADCK3_uc010pvr.1_5'Flank	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	Homo sapiens aarF domain containing kinase 3 (ADCK3), nuclear gene encoding mitochondrial protein, mRNA.	169					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	p.L168L(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GGACCAATCCCCTGTTGGGGG	0.617000														50			15		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639526	7639526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:7639526G>A	uc001qsz.3	-	8	2235	c.2107C>T	c.(2107-2109)Cct>Tct	p.P703S	CD163_uc001qta.3_Missense_Mutation_p.P703S|CD163_uc009zfw.2_Missense_Mutation_p.P736S	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	703					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						GGAATGGTAGGCCTTGTTGGG	0.413000														49			22		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28420712	28420712	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:28420712G>A	uc001zbj.3	-	63	9883	c.9777C>T	c.(9775-9777)atC>atT	p.I3259I		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3259					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.I3259I(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCACATGCACGATCTTCTTCC	0.637000														49			24		0	0	1	0	0
ARID5A	10865	broad.mit.edu	37	2	97217345	97217346	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:97217345_97217346GG>AA	uc002swe.3	+	6	1180_1181	c.1080_1081GG>AA	c.(1078-1083)agggac>agAAac	p.D361N	ARID5A_uc010yuq.2_Missense_Mutation_p.D309N|ARID5A_uc002swf.3_Missense_Mutation_p.D197N|ARID5A_uc002swg.3_Missense_Mutation_p.D309N	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA.	361					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						AGCACCCCAGGGACTTCTTCTC	0.629000														33			16		0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95540640	95540641	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:95540640_95540641CC>TT	uc002stw.1	+	3	926_927	c.833_834CC>TT	c.(832-834)tcc>tTT	p.S278F	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						CGCGACACCTCCGAGGACCTGC	0.683000														22			15		0	0	1	0	0
ETNK1	55500	broad.mit.edu	37	12	22811976	22811976	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:22811976C>T	uc001rft.3	+	2	734	c.712C>T	c.(712-714)Cat>Tat	p.H238Y	ETNK1_uc009ziz.3_Missense_Mutation_p.H238Y	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN	Homo sapiens ethanolamine kinase 1 (ETNK1), transcript variant 1, mRNA.	238				RLIARQLAKIHAIHAHNGWIPKSNLWLKMGK -> SLSSLT LCKGKTTRCFGLTGCRGSRLLLSFF (in Ref. 2; AAH06111).	phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGCTAAAATCCATGCTATTCA	0.378000														42			14		0	0	1	0	0
RALY	22913	broad.mit.edu	37	20	32663679	32663680	+	Splice_Site	DNP	GG	TA	TA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:32663679_32663680GG>TA	uc002xab.3	+	6	950	c.378_splice	c.e6-1	p.R126_splice	RALY_uc002xac.3_Splice_Site_p.R110_splice	NM_016732	NP_057951	Q9UKM9	RALY_HUMAN	Homo sapiens RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse)) (RALY), transcript variant 1, mRNA.	126						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	RNA binding|nucleotide binding			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						TGCCCTCACAGGCTCTTCGACT	0.658000														26			10		0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45829070	45829070	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:45829070G>A	uc002rus.3	-	2	309	c.233C>T	c.(232-234)tCa>tTa	p.S78L		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	78					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds	p.G77V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AACGACTTCTGAGCCATCACT	0.478000														217			62		0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31523038	31523038	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:31523038C>T	uc010dmi.3	-	8	1831	c.1533G>A	c.(1531-1533)gaG>gaA	p.E511E	NOL4_uc010xbs.2_Silent_p.E226E|NOL4_uc002kxr.4_Silent_p.E283E|NOL4_uc010xbt.2_Silent_p.E437E|NOL4_uc010dmh.3_Silent_p.E373E|NOL4_uc010xbu.2_Silent_p.E447E|NOL4_uc002kxt.4_Intron|NOL4_uc010xbv.1_Silent_p.E196E	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	511						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						CCTGCTGTCTCTCCAGACGCA	0.438000														19			15		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48697069	48697069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:48697069C>T	uc002irk.1	+	33	6179	c.5807C>T	c.(5806-5808)tCc>tTc	p.S1936F	CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Intron|CACNA1G_uc002irm.1_Missense_Mutation_p.S1902F|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Missense_Mutation_p.S1936F|CACNA1G_uc002irq.1_Missense_Mutation_p.S1913F|CACNA1G_uc002irr.1_Intron|CACNA1G_uc002irs.1_Missense_Mutation_p.S1925F|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002iru.1_Missense_Mutation_p.S1902F|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_Missense_Mutation_p.S1838F|CACNA1G_uc002ise.1_Missense_Mutation_p.S1804F|CACNA1G_uc002isf.1_Missense_Mutation_p.S1831F	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1936					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)	GACACCATATCCCTGCTGATC	0.662000														28			14		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6711027	6711027	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:6711027C>T	uc002mfm.3	-	11	1512	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	484					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)		ATCTTGGCCTCGTGGGCGCGG	0.602000														276			104		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531182	42531182	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:42531182G>A	uc010dni.3	+	3	2173	c.1877G>A	c.(1876-1878)cGa>cAa	p.R626Q		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	626						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)		AGAAAGCGACGACGCAATTTA	0.522000									Schinzel-Giedion syndrome					29			21		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51751178	51751178	+	Silent	SNP	C	T	T	rs148799204		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:51751178C>T	uc001ryk.2	-	8	1782	c.1557G>A	c.(1555-1557)ggG>ggA	p.G519G	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Silent_p.G519G|GALNT6_uc001ryj.1_Silent_p.G84G	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	519	Ricin B-type lectin.				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						TGAGGGGCTTCCCCCCGCGGT	0.602000														70			37		0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751307	26751307	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:26751307C>T	uc003cdp.3	+	1	733	c.144C>T	c.(142-144)gtC>gtT	p.V48V	LRRC3B_uc003cdq.3_Silent_p.V48V|LRRC3B_uc021wuj.1_Silent_p.V48V	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	48	LRRNT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						GTTTAAATGTCACCTGTAGCA	0.423000														47			44		0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47703666	47703666	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:47703666C>T	uc002rvy.1	+	12	2234	c.2166C>T	c.(2164-2166)gtC>gtT	p.V722V	MSH2_uc010yoh.1_Silent_p.V656V|MSH2_uc002rvz.3_Silent_p.V722V|MSH2_uc010fbg.2_Silent_p.V532V	NM_000251	NP_000242	P43246	MSH2_HUMAN	Homo sapiens mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2), mRNA.	722					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGAAAGGAGTCTCCACGTTCA	0.473000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					109			33		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5434015	5434015	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:5434015G>A	uc002gci.3	-	11	3861	c.3306C>T	c.(3304-3306)ttC>ttT	p.F1102F	NLRP1_uc002gcg.1_Silent_p.F1106F|NLRP1_uc002gch.4_Silent_p.F1102F|NLRP1_uc002gck.3_Silent_p.F1102F|NLRP1_uc002gcj.3_Silent_p.F1072F|NLRP1_uc002gcl.3_Silent_p.F1072F|NLRP1_uc010clh.3_Silent_p.F1102F	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1102					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CAGCTACAGGGAAGTGAACTC	0.567000														43			23		0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030088	95030088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:95030088C>T	uc010avd.3	+	1	654	c.380C>T	c.(379-381)tCc>tTc	p.S127F	SERPINA4_uc001ydk.3_Missense_Mutation_p.S90F|SERPINA4_uc001ydl.3_Missense_Mutation_p.S90F	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	90					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)		GCCATGCTTTCCCTGGGGGCC	0.607000														65			22		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198685852	198685852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:198685852G>A	uc001gur.1	+	12	1507	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	PTPRC_uc001gut.1_Missense_Mutation_p.D282N|PTPRC_uc009wzf.1_Missense_Mutation_p.D331N|PTPRC_uc021pgy.1_Missense_Mutation_p.D397N|PTPRC_uc010ppg.1_Missense_Mutation_p.D379N	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	443	Fibronectin type-III 1.				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						GATCAAATATGATTTGCAAAA	0.318000														93			37		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808729	18808729	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:18808729C>T	uc001bax.3	+	0	1306	c.1254C>T	c.(1252-1254)atC>atT	p.I418I	KLHDC7A_uc009vpg.3_Silent_p.I200I	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	418						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)		TCTTCCATATCCCGCTCACCC	0.652000														83			51		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871953	51871953	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:51871953G>A	uc002xwo.3	+	1	2843	c.1956G>A	c.(1954-1956)aaG>aaA	p.K652K	TSHZ2_uc021wex.1_Silent_p.K649K	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	652					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)			GTCCCCTGAAGGAGGAGGAGA	0.582000														93			24		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179447838	179447838	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179447838T>C	uc021vsy.1	-	261	58213	c.57988A>G	c.(57988-57990)Aaa>Gaa	p.K19330E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K13025E|TTN_uc021vta.1_Missense_Mutation_p.K12958E|TTN_uc021vtb.1_Missense_Mutation_p.K12833E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20257	Fibronectin type-III 40.						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)			CCATCTTTTTTCCAAGAAACT	0.463000														15			3		0	0	1	0	0
RPL34	6164	broad.mit.edu	37	4	109546299	109546299	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:109546299C>T	uc003hyz.3	+	4	329	c.285C>T	c.(283-285)ttC>ttT	p.F95F	RPL34_uc003hza.3_Silent_p.F95F	NM_000995	NP_296374	P49207	RL34_HUMAN	Homo sapiens ribosomal protein L34 (RPL34), transcript variant 1, mRNA.	95					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome			kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		AGCGTGCTTTCCTTATCGAGG	0.318000														26			14		0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409140	56409140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:56409140C>T	uc001njb.1	-	0	776	c.776G>A	c.(775-777)gGa>gAa	p.G259E	OR8U8_uc001nit.2_Intron	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						GAGGATTGTTCCAAAGAATAT	0.448000														79			44		0	0	1	0	0
HDGFRP3	50810	broad.mit.edu	37	15	83826195	83826195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:83826195G>A	uc002bjs.1	-	3	586	c.431C>T	c.(430-432)tCa>tTa	p.S144L		NM_016073	NP_057157	Q9Y3E1	HDGR3_HUMAN	Homo sapiens hepatoma-derived growth factor, related protein 3 (HDGFRP3), mRNA.	144					cell proliferation	nucleus	growth factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						TTTCCGTTTTGAGCCTGCTTT	0.338000														64			20		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112648045	112648045	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:112648045G>A	uc021reb.1	-	49	7635	c.7239C>T	c.(7237-7239)acC>acT	p.T2413T	C12orf51_uc001ttr.1_Silent_p.T300T	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						AGTTAGCTCGGGTTTTGGTGT	0.517000														150			55		0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38524310	38524310	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:38524310C>T	uc002yvz.3	+	25	2499	c.2394C>T	c.(2392-2394)ccC>ccT	p.P798P	TTC3_uc011aee.1_Silent_p.P488P|TTC3_uc002ywa.3_Silent_p.P798P|TTC3_uc002ywb.3_Silent_p.P798P|TTC3_uc010gnf.3_Silent_p.P563P|TTC3_uc002ywc.3_Silent_p.P488P|TTC3_uc011aed.1_Silent_p.P488P	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	798					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GTAATCCACCCAAAAATGAAG	0.323000														173			54		0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551041	248551041	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:248551041C>T	uc001iei.1	+	0	132	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V44I(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)			CTAATGGGGTCATGATCTTCC	0.468000														81			22		0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876109	74876109	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:74876109C>T	uc001xpx.2	-	1	587	c.339G>A	c.(337-339)gaG>gaA	p.E113E		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	Homo sapiens synapse differentiation inducing 1-like (SYNDIG1L), mRNA.	113					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						TGGTGACATTCTCTGCAGCTT	0.597000														208			75		0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100194369	100194369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:100194369C>T	uc004axj.3	+	3	637	c.412C>T	c.(412-414)Cct>Tct	p.P138S	TDRD7_uc011lux.2_Missense_Mutation_p.P64S	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	138					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TGGCAAAAAACCTAATCCAGC	0.388000														76			23		0	0	1	0	0
DNAJC21	134218	broad.mit.edu	37	5	34950309	34950309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:34950309G>A	uc003jjb.3	+	10	1582	c.1355G>A	c.(1354-1356)gGa>gAa	p.G452E	DNAJC21_uc003jjc.3_Missense_Mutation_p.G407E|DNAJC21_uc010iuu.1_Missense_Mutation_p.G304E|DNAJC21_uc003jjd.3_Non-coding_Transcript	NM_194283	NP_919259	Q5F1R6	DJC21_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21 (DNAJC21), transcript variant 1, mRNA.	407					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AATGGACCTGGAGAAGGAGTA	0.333000														117			48		0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30790024	30790024	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:30790024G>A	uc001rjd.3	-	21	2935	c.2587C>T	c.(2587-2589)Ccc>Tcc	p.P863S	IPO8_uc010sjt.2_Missense_Mutation_p.P658S|IPO8_uc001rje.1_Missense_Mutation_p.P352S	NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	863					intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AGAATTGAGGGAACAATCTGT	0.448000														74			32		0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48605597	48605597	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:48605597G>A	uc010wmr.2	+	15	2664	c.2502G>A	c.(2500-2502)aaG>aaA	p.K834K	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	797					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)			TGCCTGAGAAGGAGACCATCT	0.532000														44			9		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113871468	113871468	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:113871468C>T	uc003ynu.3	-	10	1820	c.1661G>A	c.(1660-1662)gGa>gAa	p.G554E	CSMD3_uc003ynt.3_Missense_Mutation_p.G514E|CSMD3_uc011lhx.2_Missense_Mutation_p.G450E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	554	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						ACCACTTGGTCCTTGAAGATT	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				32			16		0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179201462	179201462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:179201462C>T	uc003mkm.3	+	4	2898	c.2635C>T	c.(2635-2637)Ccg>Tcg	p.P879S	MAML1_uc003mkn.1_Intron	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	879					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATGTCTAGCCCGCAATTCTC	0.612000														45			22		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5860133	5860133	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:5860133C>T	uc001qnm.2	-	10	1119	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	354						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						CTCCAAAATACTTTCTGGAAA	0.333000														18			4		0	0	1	0	0
PMPCA	23203	broad.mit.edu	37	9	139310781	139310781	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:139310781G>A	uc004chl.3	+	5	576	c.571G>A	c.(571-573)Gag>Aag	p.E191K	PMPCA_uc011mdy.1_Missense_Mutation_p.E191K|PMPCA_uc010nbk.2_Non-coding_Transcript|PMPCA_uc011mdz.2_Missense_Mutation_p.E60K|PMPCA_uc010nbl.3_Missense_Mutation_p.E91K|PMPCA_uc004chm.1_5'UTR|PMPCA_uc004chn.1_5'Flank	NM_015160	NP_055975	Q10713	MPPA_HUMAN	Homo sapiens peptidase (mitochondrial processing) alpha (PMPCA), nuclear gene encoding mitochondrial protein, mRNA.	191					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GGTCCAGTTTGAGCTGGAGGA	0.542000														122			42		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6204750	6204750	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:6204750C>T	uc001qnn.1	-	6	783	c.533_splice	c.e6-1	p.G178_splice	VWF_uc010set.1_Splice_Site_p.G178_splice|VWF_uc001qno.1_Splice_Site_p.G215_splice	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	178	VWFD 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)	GGTCAAGGTCCCTGTGGAGGA	0.498000														160			41		0	0	1	0	0
ESRP2	80004	broad.mit.edu	37	16	68266285	68266285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:68266285G>A	uc010cfa.1	-	7	1161	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C	ESRP2_uc002evp.1_Intron|ESRP2_uc002evq.1_Missense_Mutation_p.R315C	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	Homo sapiens epithelial splicing regulatory protein 2 (ESRP2), mRNA.	325	RRM 1.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TCAATATAGCGGACGCCCATG	0.622000														88			32		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33622247	33622247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:33622247C>T	uc021vft.1	+	32	4905	c.4882C>T	c.(4882-4884)Ctc>Ttc	p.L1628F	LTBP1_uc002rou.3_Missense_Mutation_p.L1302F|LTBP1_uc002rov.3_Missense_Mutation_p.L1249F|LTBP1_uc010ymz.2_Missense_Mutation_p.L1260F|LTBP1_uc010yna.2_Missense_Mutation_p.L1207F|LTBP1_uc010ynb.2_Missense_Mutation_p.L526F	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1628	EGF-like 17.				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)				ATGCGGCATCCTCAATGGATG	0.463000														43			20		0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55417935	55417935	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:55417935A>G	uc002qib.2	+	2	163	c.125A>G	c.(124-126)gAa>gGa	p.E42G	NCR1_uc002qic.2_Missense_Mutation_p.E42G|NCR1_uc002qie.2_Missense_Mutation_p.E42G|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	42	Ig-like 1.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GTTCCAAAGGAAAAGCAAGTG	0.542000														107			63		0	0	1	0	0
GUCA1A	2978	broad.mit.edu	37	6	42141371	42141371	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:42141371G>A	uc003orx.3	+	2	665	c.20G>A	c.(19-21)gGa>gAa	p.G7E	GUCA1A_uc011duo.2_Non-coding_Transcript|GUCA1A_uc010jxt.3_Missense_Mutation_p.G7E	NM_000409	NP_000400	P43080	GUC1A_HUMAN	Homo sapiens guanylate cyclase activator 1A (retina) (GUCA1A), mRNA.	7					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)			GTGATGGAGGGAAAGTCAGTG	0.592000														103			26		0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48252376	48252376	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:48252376C>T	uc002lev.3	+	4	1898	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	MAPK4_uc010xdm.2_Missense_Mutation_p.R89C|MAPK4_uc010doz.3_Intron	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	300	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CCCCATGGATCGCCTAACAGC	0.547000														99			53		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21862454	21862454	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:21862454G>A	uc001war.2	-	29	5646	c.5581C>T	c.(5581-5583)Ccc>Tcc	p.P1861S	CHD8_uc001was.2_Missense_Mutation_p.P1582S|SNORD9_uc001wat.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1861					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GCTGCTGGGGGAAGGCGGCAT	0.498000														76			22		0	0	1	0	0
LRCH4	4034	broad.mit.edu	37	7	100175447	100175447	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100175447G>A	uc003uvj.3	-	7	1090	c.1037C>T	c.(1036-1038)tCa>tTa	p.S346L	LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	346					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)					CTACTCACCTGAGCCATCCTC	0.637000														70			29		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40955571	40955571	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:40955571G>A	uc003jmh.3	+	9	1290	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	392	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTTACCTAGAGCTGGACAATC	0.453000														78			35		0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891684	2891684	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:2891684G>A	uc002kln.3	+	3	1718	c.1559G>A	c.(1558-1560)gGg>gAg	p.G520E		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	520					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)		AGTCCCCCAGGGGCAGCAGCC	0.507000														61			48		0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30672787	30672787	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:30672787T>C	uc010xbr.1	-	19	2468	c.2326A>G	c.(2326-2328)Aat>Gat	p.N776D	C18orf34_uc010xbq.1_Intron|C18orf34_uc010dme.1_Intron|C18orf34_uc002kxn.2_Missense_Mutation_p.N776D|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.N738D|C18orf34_uc002kxp.3_Missense_Mutation_p.N776D	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	776										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						TTGAAATAATTGTCCTTTTCT	0.279000														30			19		0	0	1	0	0
FCAMR	83953	broad.mit.edu	37	1	207131965	207131965	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:207131965G>T	uc001hfa.4	-	7	2130	c.1630C>A	c.(1630-1632)Ccc>Acc	p.P544T	FCAMR_uc001hfb.3_3'UTR|FCAMR_uc009xca.2_3'UTR	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	499						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TCTGCTTGGGGGTTCACTTCC	0.542000														125			26		3.73148e-12	3.76585e-12	1	1	0
SYTL4	94121	broad.mit.edu	37	X	99933419	99933419	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:99933419G>A	uc004egd.4	-	17	2192	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F	SYTL4_uc004egc.3_Silent_p.F43F|SYTL4_uc010nnb.3_Silent_p.F284F|SYTL4_uc010nnc.3_Silent_p.F612F|SYTL4_uc004ege.4_Silent_p.F612F|SYTL4_uc004egf.4_Silent_p.F612F	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	612	C2 2.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCCTCCCAGGAAGTCATTGC	0.527000														51			34		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99478707	99478707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:99478707G>A	uc001tge.2	-	15	3038	c.2621C>T	c.(2620-2622)cCa>cTa	p.P874L	ANKS1B_uc001tgf.2_Missense_Mutation_p.P450L|ANKS1B_uc001tgk.3_Missense_Mutation_p.P171L|ANKS1B_uc001tgd.2_Missense_Mutation_p.P100L|ANKS1B_uc009ztr.3_Missense_Mutation_p.P100L|ANKS1B_uc001tgj.3_Missense_Mutation_p.P100L|ANKS1B_uc001tgi.3_Missense_Mutation_p.P100L|ANKS1B_uc009zts.2_Missense_Mutation_p.P100L|ANKS1B_uc001tgg.4_Missense_Mutation_p.P43L|ANKS1B_uc010svg.2_Missense_Mutation_p.P69L|5S_rRNA_uc021rcl.1_5'Flank	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	874	SAM 1.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GCTCACCTTTGGAAGGAGCTG	0.413000														12			4		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12853514	12853514	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:12853514G>A	uc001auj.2	+	1	241	c.138G>A	c.(136-138)agG>agA	p.R46R		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	46								p.S45R(1)		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)		CCTTCAGCAGGAGACACTTCC	0.572000														49			82		0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272595	158272596	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:158272595_158272596CC>TT	uc002tzj.1	-	7	745_746	c.673_674GG>AA	c.(673-675)gga>AAa	p.G225K	CYTIP_uc010zcl.1_Missense_Mutation_p.G119K	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	225					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						AGGCAGGGGTCCAAACAAAGAC	0.500000														54			16		0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56114262	56114262	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:56114262C>T	uc010rjg.2	+	0	748	c.748C>T	c.(748-750)Cat>Tat	p.H250Y		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					CTGTAGCTCTCATCTGACAGT	0.408000										HNSCC(65;0.19)				23			15		0	0	1	0	0
WARS2	10352	broad.mit.edu	37	1	119575560	119575560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:119575560C>T	uc001ehn.3	-	5	1085	c.1057G>A	c.(1057-1059)Gtg>Atg	p.V353M	WARS2_uc010oxf.2_Missense_Mutation_p.V259M|WARS2_uc001ehm.3_3'UTR|WARS2_uc010oxg.2_Missense_Mutation_p.V296M|WARS2_uc010oxh.2_3'UTR	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	Homo sapiens tryptophanyl tRNA synthetase 2, mitochondrial (WARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	353					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	AATTTCTTCACCTCCTGGCAC	0.408000														95			95		0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322738	55322738	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:55322738C>T	uc010rig.2	+	0	956	c.956C>T	c.(955-957)tCc>tTc	p.S319F		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	265					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						TCTGCTTTTTCCCTTGACAAA	0.403000										HNSCC(20;0.049)				70			37		0	0	1	0	0
GCNT1	2650	broad.mit.edu	37	9	79117396	79117396	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:79117396G>A	uc022bif.1	+	0	99	c.99G>A	c.(97-99)agG>agA	p.R33R	GCNT1_uc010mpf.3_Silent_p.R33R|GCNT1_uc010mpg.3_Silent_p.R33R|GCNT1_uc010mph.3_Silent_p.R33R|GCNT1_uc004akf.4_Silent_p.R33R|GCNT1_uc010mpi.3_Silent_p.R33R|GCNT1_uc004akh.4_Silent_p.R33R	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA.	33	Stem region (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						CCGTTTTAAGGATTCATCAAA	0.398000														93			41		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869671	4869671	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:4869671G>A	uc010qyo.2	-	0	768	c.768C>T	c.(766-768)ctC>ctT	p.L256L		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	256					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)		TATAGAAGAGGAGCACTGCAG	0.512000														71			14		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692503	135692503	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:135692503C>G	uc003lbn.2	-	1	795	c.573G>C	c.(571-573)gaG>gaC	p.E191D	TRPC7_uc010jef.2_Missense_Mutation_p.E182D|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.E191D|TRPC7_uc010jei.2_Missense_Mutation_p.E191D	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	191					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGTGGGGCCGCTCGATGCGGG	0.612000														83			40		0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108642090	108642091	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:108642090_108642091GG>AA	uc001tms.3	+	8	2412_2413	c.1668_1669GG>AA	c.(1666-1671)acgggt>acAAgt	p.G557S	WSCD2_uc001tmt.3_Missense_Mutation_p.G557S|WSCD2_uc001tmu.3_Missense_Mutation_p.G325S	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	557						integral to membrane		p.G557R(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GGAACCTAACGGGTGTCCCCGA	0.584000														49			21		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137648	40137648	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:40137648T>A	uc021qgf.1	-	0	195	c.195A>T	c.(193-195)aaA>aaT	p.K65N	LRRC4C_uc001mxc.1_Missense_Mutation_p.K61N|LRRC4C_uc001mxd.1_Missense_Mutation_p.K61N|LRRC4C_uc001mxa.1_Missense_Mutation_p.K65N|LRRC4C_uc001mxb.1_Missense_Mutation_p.K61N	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	65	LRRNT.				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)				CACGCAGGTTTTTCCGAACAC	0.527000														25			20		0	0	1	0	0
GDI2	2665	broad.mit.edu	37	10	5836859	5836859	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:5836859G>A	uc009xid.3	-	4	751	c.389C>T	c.(388-390)gCc>gTc	p.A130V	GDI2_uc001iil.4_Missense_Mutation_p.A126V|GDI2_uc001iim.4_Intron			P50395	GDIB_HUMAN	Homo sapiens GDP dissociation inhibitor 2 (GDI2), transcript variant 1, mRNA.	126					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	Rab GDP-dissociation inhibitor activity|protein binding			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						AGATGCCAGGGCTTCTGCTTC	0.373000														61			44		0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238048779	238048779	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:238048779G>A	uc001hym.3	-	7	1359	c.1072C>T	c.(1072-1074)Ccc>Tcc	p.P358S	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	358	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)			CCCAGGTAGGGGTCTGTTCTG	0.537000														59			30		0	0	1	0	0
TWF1	5756	broad.mit.edu	37	12	44193204	44193204	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:44193204A>T	uc001roa.3	-	4	610	c.582T>A	c.(580-582)aaT>aaA	p.N194K	TWF1_uc001rnz.3_Missense_Mutation_p.N62K|TWF1_uc001rob.3_Missense_Mutation_p.N160K|TWF1_uc001roc.3_Missense_Mutation_p.N62K	NM_002822	NP_002813	Q12792	TWF1_HUMAN	Homo sapiens twinfilin, actin-binding protein, homolog 1 (Drosophila) (TWF1), transcript variant 2, mRNA.	160	ADF-H 2.					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		AACTTACCTCATTGATTTTAA	0.333000														27			6		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9027574	9027574	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:9027574C>T	uc003brf.1	-	21	3605	c.2929G>A	c.(2929-2931)Gaa>Aaa	p.E977K	SRGAP3_uc003brg.1_Missense_Mutation_p.E953K	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	977					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)		CTCTCGAGTTCCCGCAACTCG	0.647000			T	RAF1	pilocytic astrocytoma									90			68		0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73768317	73768317	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:73768317G>A	uc003uam.3	+	3	1113	c.786G>A	c.(784-786)ggG>ggA	p.G262G	CLIP2_uc003uan.3_Silent_p.G262G	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	262	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						AGAATGATGGGGCGGTGGCGG	0.652000														224			101		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122645393	122645394	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:122645393_122645394CC>AT	uc003efz.1	-	8	1285_1286	c.981_982GG>AT	c.(979-984)gggggc>ggATgc	p.G328C	SEMA5B_uc011bju.1_Missense_Mutation_p.G270C|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.G328C|SEMA5B_uc010hro.1_Missense_Mutation_p.G270C|SEMA5B_uc010hrp.1_Non-coding_Transcript	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	328	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.G328S(2)|p.G382S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGGAATCGGCCCCCCACGTCAT	0.614000														63			15		0	0	1	0	0
TMEM9	252839	broad.mit.edu	37	1	201104908	201104908	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:201104908G>A	uc010ppo.2	-	5	606	c.510C>T	c.(508-510)ctC>ctT	p.L170L	TMEM9_uc001gvx.3_Silent_p.L145L|TMEM9_uc001gvy.3_Silent_p.L145L|TMEM9_uc001gvz.3_Silent_p.L148L|TMEM9_uc001gwa.3_Silent_p.L145L	NM_016456	NP_057540	Q9P0T7	TMEM9_HUMAN	Homo sapiens transmembrane protein 9 (TMEM9), mRNA.	145					transport	integral to membrane|late endosome membrane|lysosomal membrane				liver(1)|lung(1)|stomach(1)	3		Breast(1374;0.000301)				GGGGTCCCCCGAGGGATGCAG	0.582000														47			22		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179447831	179447831	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179447831T>C	uc021vsy.1	-	261	58220	c.57995A>G	c.(57994-57996)gAt>gGt	p.D19332G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D13027G|TTN_uc021vta.1_Missense_Mutation_p.D12960G|TTN_uc021vtb.1_Missense_Mutation_p.D12835G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20259	Fibronectin type-III 40.						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)			CAGTGTGCCATCTTTTTTCCA	0.463000														16			3		0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26744166	26744166	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:26744166C>G	uc003gsf.4	+	17	1534	c.1264C>G	c.(1264-1266)Ctt>Gtt	p.L422V	TBC1D19_uc010iew.3_Missense_Mutation_p.L422V|TBC1D19_uc011bxu.2_Missense_Mutation_p.L357V	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	Homo sapiens TBC1 domain family, member 19 (TBC1D19), mRNA.	422	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				TGAAACTCTTCTTCAAACTTA	0.328000														168			22		0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55715093	55715093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:55715093C>T	uc010spi.2	+	0	710	c.710C>T	c.(709-711)tCc>tTc	p.S237F		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						AAGGCCTTTTCCACATGTTCT	0.378000														67			30		0	0	1	0	0
C15orf33	196951	broad.mit.edu	37	15	49869031	49869031	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:49869031G>A	uc001zxl.2	-	6	747	c.453C>T	c.(451-453)ttC>ttT	p.F151F	C15orf33_uc001zxm.3_Silent_p.F151F	NM_152647	NP_689860	Q96M60	CO033_HUMAN	Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA.	151								p.S150S(2)		endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	25		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		TGAATCCTGTGAAGCTGCAAC	0.328000														24			9		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740201	37740201	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:37740201C>T	uc004aag.1	+	14	1720	c.1676C>T	c.(1675-1677)cCt>cTt	p.P559L	FRMPD1_uc004aah.1_Missense_Mutation_p.P559L|FRMPD1_uc011lqm.2_Missense_Mutation_p.P381L|FRMPD1_uc011lqn.2_Missense_Mutation_p.P428L	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	559						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)		GAGGAGCAGCCTCCTGGGAAC	0.632000														115			37		0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20388940	20388940	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:20388940A>T	uc010tkw.2	+	0	175	c.175A>T	c.(175-177)Atg>Ttg	p.M59L		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCACTCCCCTATGTACTTTCT	0.408000														203			37		0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148802413	148802413	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:148802413G>A	uc003wfj.3	-	3	683	c.550C>T	c.(550-552)Ccc>Tcc	p.P184S		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	184					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.P184L(1)		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)			GGCCCTGTGGGAATTTCTAAG	0.478000														97			35		0	0	1	0	0
PYCR1	5831	broad.mit.edu	37	17	79891108	79891108	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:79891108G>A	uc002kct.1	-	7	1024	c.942C>T	c.(940-942)gcC>gcT	p.A314A	PYCR1_uc002kcp.3_Intron|PYCR1_uc002kcr.1_Silent_p.A314A|PYCR1_uc010wvd.1_Silent_p.A341A|PYCR1_uc002kcu.1_Silent_p.A283A	NM_006907	NP_008838	P32322	P5CR1_HUMAN	Homo sapiens pyrroline-5-carboxylate reductase 1 (PYCR1), transcript variant 1, mRNA.	314					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	TGCCCGCTGGGGCCAGGCTGC	0.622000														89			39		0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72406880	72406880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:72406880C>T	uc001osu.3	-	23	3492	c.3303G>A	c.(3301-3303)atG>atA	p.M1101I	ARAP1_uc001osv.3_Missense_Mutation_p.M1101I|ARAP1_uc001osr.3_Missense_Mutation_p.M861I|ARAP1_uc001oss.3_Missense_Mutation_p.M856I|ARAP1_uc009yth.3_Missense_Mutation_p.M795I|ARAP1_uc010rre.2_Missense_Mutation_p.M856I	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	1101	Rho-GAP.				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						TGTGCACGTTCATCTGGTTCG	0.537000														232			178		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109734355	109734356	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:109734355_109734356GG>AA	uc004bcz.3	+	7	6786_6787	c.6497_6498GG>AA	c.(6496-6498)agg>aAA	p.R2166K	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.R2075K|ZNF462_uc004bda.3_Missense_Mutation_p.R2074K|ZNF462_uc011lvz.2_Missense_Mutation_p.R123K|ZNF462_uc004bdb.1_Missense_Mutation_p.R74K	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	2166					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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						GCCCTGGCAAGGAACAACAGCC	0.530000														60			24		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82837715	82837715	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:82837715G>A	uc003kii.3	+	7	9249	c.8893G>A	c.(8893-8895)Gaa>Aaa	p.E2965K	VCAN_uc003kij.3_Missense_Mutation_p.E1978K|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.E1629K	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2965	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)		AACTGCCGATGAAATTGAATT	0.468000														40			30		0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39158965	39158965	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:39158965C>T	uc003oon.3	-	4	1565	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	401					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GGCTCGCATTCCTCGCTGATG	0.627000														84			30		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71500027	71500027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:71500027G>A	uc011caw.1	+	5	494	c.213G>A	c.(211-213)atG>atA	p.M71I		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	71					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)			CCTTTCAGATGGCACACCTGG	0.493000														163			25		0	0	1	0	0
WDR27	253769	broad.mit.edu	37	6	170002355	170002355	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:170002355G>A	uc003qwx.3	-	22	2904	c.2384C>T	c.(2383-2385)cCt>cTt	p.P795L	WDR27_uc003qwv.2_Non-coding_Transcript|WDR27_uc021zio.1_Missense_Mutation_p.P795L|WDR27_uc003qwy.3_Missense_Mutation_p.P668L	NM_182552	NP_872358	A2RRH5	WDR27_HUMAN	Homo sapiens WD repeat domain 27 (WDR27), transcript variant 1, mRNA.	765										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TCGTCCACAAGGACTGAAAGC	0.483000														5			3		0	0	1	0	0
VSIG2	23584	broad.mit.edu	37	11	124617446	124617446	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:124617446G>A	uc001qas.3	-	6	1045	c.969C>T	c.(967-969)ctC>ctT	p.L323L		NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.	323						integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|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;0.0215)		CGACCATAGGGAGCTTGGACT	0.527000														67			33		0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59268347	59268347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:59268347G>A	uc001sqr.3	-	16	2950	c.2704C>T	c.(2704-2706)Cat>Tat	p.H902Y	LRIG3_uc009zqh.3_Missense_Mutation_p.H842Y|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	902						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTGTCAATATGGCAGGTCCCT	0.403000			T	ROS1	NSCLC									64			18		0	0	1	0	0
COLEC10	10584	broad.mit.edu	37	8	120118157	120118157	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:120118157G>A	uc003yoo.3	+	5	658	c.561G>A	c.(559-561)aaG>aaA	p.K187K		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	187	C-type lectin.					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)			CCATGCCCAAGGATGAAGCTG	0.493000														32			10		0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328225	48328225	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:48328225T>A	uc010rhu.2	+	0	451	c.451T>A	c.(451-453)Ttc>Atc	p.F151I		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						GTTAGCTGGCTTCCTGCATTC	0.557000														65			50		0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25570243	25570243	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:25570243C>T	uc002kwg.2	-	9	1875	c.1416G>A	c.(1414-1416)aaG>aaA	p.K472K	CDH2_uc010xbn.1_Silent_p.K441K	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	472	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	p.K472N(2)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCTGAATTCCCTTGGCTAATG	0.418000														41			23		0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961495	34961495	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:34961495C>T	uc004ddi.2	+	0	583	c.547C>T	c.(547-549)Ccc>Tcc	p.P183S		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	183								p.P183P(1)		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						TGGTAAATATCCCTGTGGGGA	0.642000														51			26		0	0	1	0	0
ERMP1	79956	broad.mit.edu	37	9	5805111	5805111	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:5805111G>A	uc003zjm.1	-	9	1884	c.1830C>T	c.(1828-1830)ctC>ctT	p.L610L	ERMP1_uc022bdc.1_Intron|ERMP1_uc022bdd.1_Non-coding_Transcript|ERMP1_uc010mhs.1_Silent_p.L224L	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	Homo sapiens endoplasmic reticulum metallopeptidase 1 (ERMP1), mRNA.	610					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CACTTCTCCCGAGGATAGGGG	0.393000														59			19		0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20563868	20563868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:20563868C>T	uc002wrz.3	-	19	2676	c.2533G>A	c.(2533-2535)Gaa>Aaa	p.E845K	RALGAPA2_uc002wry.3_Missense_Mutation_p.E460K|RALGAPA2_uc010zsg.2_Missense_Mutation_p.E293K	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	845					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						TTGGTACTTTCACCTGGTACA	0.428000														32			12		0	0	1	0	0
PVRL1	5818	broad.mit.edu	37	11	119510622	119510622	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:119510622G>A	uc001pwu.1	-	5	1276	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F		NM_203285	NP_976030	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 2, mRNA.	24					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GGTTGTACAGGAAGAAGACAG	0.642000														42			23		0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172163036	172163036	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:172163036C>T	uc003fib.2	-	1	1059	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E	FJ355932_uc021xhj.1_5'Flank	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	339					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			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)			GGGTTCGAATCCCAGAAGTCT	0.483000														191			55		0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129875895	129875895	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:129875895G>A	uc009yat.3	+	19	2190	c.1773G>A	c.(1771-1773)caG>caA	p.Q591Q	PTPRE_uc001lkb.3_Silent_p.Q580Q|PTPRE_uc009yau.2_Silent_p.Q580Q|PTPRE_uc001lkd.3_Silent_p.Q522Q|PTPRE_uc010quq.1_Silent_p.Q481Q	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	580	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				AGGCCCGCCAGGAGGAGCAGG	0.672000														22			20		0	0	1	0	0
KRT4	3851	broad.mit.edu	37	12	53207631	53207631	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:53207631C>T	uc001saz.3	-	0	434	c.434G>A	c.(433-435)gGt>gAt	p.G145D		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	71						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						AAAGCAGGCACCTTGTCGTGA	0.602000														238			86		0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158516942	158516942	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:158516942C>T	uc010pil.2	-	0	954	c.954G>A	c.(952-954)caG>caA	p.Q318Q		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	318					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)					CCCCATTTCCCTGGGGCCCAC	0.453000														62			23		0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70078291	70078291	+	Splice_Site	SNP	C	T	T	rs145988491		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:70078291C>T	uc003heh.3	-	2	879	c.870_splice	c.e2+1	p.K290_splice	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	290					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GTATGTTTACCTTAGGTAGGG	0.358000														68			7		0	0	1	0	0
FAM126B	285172	broad.mit.edu	37	2	201846418	201846418	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:201846418C>T	uc002uws.4	-	11	1356	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T	FAM126B_uc002uwu.3_Missense_Mutation_p.A364T|FAM126B_uc002uwv.3_Missense_Mutation_p.A390T	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.	390						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						ATGGCAGAGGCTGTTTCTTTA	0.488000														59			20		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73459572	73459572	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:73459572G>A	uc003tzw.3	+	9	581	c.490G>A	c.(490-492)Ggg>Agg	p.G164R	ELN_uc003tzm.1_Intron|ELN_uc003tzn.3_Missense_Mutation_p.G164R|ELN_uc003tzy.3_Missense_Mutation_p.G159R|ELN_uc003tzz.3_Missense_Mutation_p.G152R|ELN_uc003tzo.3_Missense_Mutation_p.G164R|ELN_uc003tzp.3_Intron|ELN_uc003tzq.3_Intron|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Missense_Mutation_p.G164R|ELN_uc003tzt.3_Missense_Mutation_p.G169R|ELN_uc003tzu.3_Missense_Mutation_p.G169R|ELN_uc003tzv.3_Missense_Mutation_p.G154R|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.G154R|ELN_uc011kff.2_Missense_Mutation_p.G164R	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	164					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CCCCGGTGTGGGGGTGCTCCC	0.652000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							111			18		0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112172630	112172630	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:112172630G>A	uc004bed.2	-	14	1491	c.1379C>T	c.(1378-1380)cCa>cTa	p.P460L	PTPN3_uc004beb.2_Missense_Mutation_p.P329L|PTPN3_uc004bec.2_Missense_Mutation_p.P284L|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.P415L|PTPN3_uc011lwh.1_Missense_Mutation_p.P306L|PTPN3_uc011lwd.1_5'UTR|PTPN3_uc011lwe.1_Missense_Mutation_p.P173L|PTPN3_uc011lwf.1_Missense_Mutation_p.P128L	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	460					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						ATTTGAAGATGGAGACACAGA	0.522000														111			44		0	0	1	0	0
UPF3B	65109	broad.mit.edu	37	X	118974617	118974617	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:118974617G>A	uc004erz.2	-	7	938	c.838C>T	c.(838-840)Cag>Tag	p.Q280*	UPF3B_uc004esa.2_Intron	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B), transcript variant 1, mRNA.	280	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						ACATTTTTCTGATTCACAGCT	0.378000														31			19		0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97888017	97888017	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:97888017C>T	uc011bgu.2	+	0	474	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ATGCTTTAATCCATGAAGGAT	0.358000														64			9		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47514238	47514238	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:47514238G>A	uc001cqt.3	+	10	1458	c.1208_splice	c.e10-1	p.G403_splice	CYP4X1_uc001cqr.3_Splice_Site_p.G402_splice|CYP4X1_uc001cqs.3_Splice_Site_p.G338_splice	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	403						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						CTTTCTTAGGGATCACCGTGG	0.428000														196			81		0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50783723	50783723	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:50783723C>T	uc021tib.1	+	0	237	c.114C>T	c.(112-114)ctC>ctT	p.L38L	CYLD_uc002egn.1_Silent_p.L38L|CYLD_uc002ego.3_Silent_p.L38L|CYLD_uc010cbs.1_Silent_p.L38L|CYLD_uc002egp.1_Silent_p.L38L|CYLD_uc002egq.1_Silent_p.L38L|CYLD_uc002egr.1_Silent_p.L38L|CYLD_uc002egs.1_Silent_p.L38L	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.	38					Wnt receptor signaling pathway|cell cycle|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CACAAAAGCTCCTTAAAGTAC	0.408000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis					62			26		0	0	1	0	0
COLQ	8292	broad.mit.edu	37	3	15499767	15499767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:15499767C>T	uc003bzx.3	-	12	1006	c.880G>A	c.(880-882)Gga>Aga	p.G294R	COLQ_uc003bzv.3_Missense_Mutation_p.G284R|COLQ_uc010heo.3_Missense_Mutation_p.G260R|COLQ_uc003cad.1_Non-coding_Transcript|COLQ_uc003cae.1_Missense_Mutation_p.G153R	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA.	294					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						ATAGTGGGTCCACAAAGACAT	0.517000														183			115		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72190579	72190579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:72190579C>T	uc001xms.3	+	15	4848	c.4487C>T	c.(4486-4488)tCc>tTc	p.S1496F	SIPA1L1_uc001xmt.3_Missense_Mutation_p.S1475F|SIPA1L1_uc001xmu.3_Missense_Mutation_p.S1475F|SIPA1L1_uc001xmv.3_Missense_Mutation_p.S1496F|SIPA1L1_uc010ttm.2_Missense_Mutation_p.S950F	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1496					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	p.S1496F(2)		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)		ACCATAAACTCCGTGGGATTT	0.478000														106			48		0	0	1	0	0
CAT	847	broad.mit.edu	37	11	34475378	34475378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:34475378C>T	uc001mvm.3	+	5	705	c.616C>T	c.(616-618)Cca>Tca	p.P206S	CAT_uc009ykc.1_Non-coding_Transcript	NM_001752	NP_001743	P04040	CATA_HUMAN	Homo sapiens catalase (CAT), mRNA.	206					UV protection|hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process	peroxisomal matrix|peroxisomal membrane	NADP binding|catalase activity|heme binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TCGGGGGATTCCAGATGGACA	0.343000														88			16		0	0	1	0	0
GTF2I	2969	broad.mit.edu	37	7	74159269	74159269	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:74159269C>T	uc003uau.3	+	20	2293	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	GTF2I_uc003uav.3_Silent_p.F620F|GTF2I_uc003uaw.3_Silent_p.F621F|GTF2I_uc003uay.3_Silent_p.F619F|GTF2I_uc003uax.3_Silent_p.F600F	NM_032999	NP_127492	P78347	GTF2I_HUMAN	Homo sapiens general transcription factor IIi (GTF2I), transcript variant 1, mRNA.	641					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AAATCAAGTTCGTTGTTAAAA	0.413000														218			25		0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713009	138713009	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:138713009G>A	uc004cgr.4	-	10	3498	c.3498C>T	c.(3496-3498)ttC>ttT	p.F1166F	CAMSAP1_uc004cgq.4_Silent_p.F1056F|CAMSAP1_uc010nbg.3_Silent_p.F888F	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	1166						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGTAACTGTCGAAGAGACACT	0.567000														259			71		0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	110049062	110049062	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:110049062G>A	uc010ywt.1	+	5	1509	c.1509G>A	c.(1507-1509)aaG>aaA	p.K503K		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.	503	SH3 3.						zinc ion binding	p.K503N(2)		endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GCTGGTTCAAGGGGGCGTCTC	0.617000														27			15		0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35186232	35186232	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:35186232G>A	uc002yta.1	+	21	2851	c.2583G>A	c.(2581-2583)acG>acA	p.T861T	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Silent_p.T740T|ITSN1_uc002ysy.3_Silent_p.T856T|ITSN1_uc002ysx.3_Silent_p.T819T|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Silent_p.T856T|ITSN1_uc010gmg.3_Silent_p.T819T|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Silent_p.T861T|ITSN1_uc010gmi.3_Silent_p.T824T|ITSN1_uc002ytb.1_Silent_p.T856T|ITSN1_uc002ytc.1_Silent_p.T856T|ITSN1_uc010gmk.3_Silent_p.T824T|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Silent_p.T856T|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Silent_p.T795T|ITSN1_uc021wip.1_Silent_p.T750T|ITSN1_uc002ytf.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	861					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 vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CCACCAGCACGAATGAGAAAC	0.498000														72			22		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80043121	80043121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:80043121G>A	uc002kdu.3	-	23	4397	c.4280C>T	c.(4279-4281)tCt>tTt	p.S1427F	FASN_uc002kdw.1_Missense_Mutation_p.S643F	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1427					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GACCTTCAGAGACTCCACCCA	0.682000														45			19		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9449219	9449219	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:9449219G>A	uc021wam.1	+	32	3228	c.3213_splice	c.e32-1	p.R1071_splice	PLCB4_uc010gbx.3_Splice_Site_p.R1083_splice|PLCB4_uc021wal.1_Splice_Site_p.R1071_splice|PLCB4_uc002wnh.3_Splice_Site_p.R918_splice	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	1071					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						AATACATAGGGAAAGCAAGGA	0.403000														85			39		0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33966762	33966762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:33966762C>T	uc002hjr.3	+	10	1609	c.1420C>T	c.(1420-1422)Cac>Tac	p.H474Y	AP2B1_uc002hjq.3_Missense_Mutation_p.H474Y|AP2B1_uc010wci.2_Missense_Mutation_p.H436Y|AP2B1_uc002hjs.3_Missense_Mutation_p.H417Y|AP2B1_uc002hjt.3_Missense_Mutation_p.H474Y|AP2B1_uc010ctv.3_Missense_Mutation_p.H474Y|AP2B1_uc010wcj.2_Missense_Mutation_p.H211Y	NM_001282	NP_001273	P63010	AP2B1_HUMAN	Homo sapiens adaptor-related protein complex 2, beta 1 subunit (AP2B1), transcript variant 2, mRNA.	474					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GGAGGGTTTTCACGATGAAAG	0.418000														70			32		0	0	1	0	0
IFNA6	3443	broad.mit.edu	37	9	21350614	21350614	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:21350614G>A	uc011lni.2	-	0	273	c.273C>T	c.(271-273)ttC>ttT	p.F91F		NM_021002	NP_066282	P05013	IFNA6_HUMAN	Homo sapiens interferon, alpha 6 (IFNA6), mRNA.	91					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	p.L90L(1)		large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CCTTTGTGCTGAAGAGGTTGA	0.488000														115			36		0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58558072	58558072	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:58558072C>T	uc002ybe.3	+	4	799	c.488C>T	c.(487-489)cCc>cTc	p.P163L	CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	163	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GATCATGCACCCCAGTTTCCA	0.463000														221			82		0	0	1	0	0
ALX3	257	broad.mit.edu	37	1	110607308	110607308	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:110607308C>T	uc001dzb.3	-	1	583	c.495G>A	c.(493-495)ctG>ctA	p.L165L		NM_006492	NP_006483	O95076	ALX3_HUMAN	Homo sapiens ALX homeobox 3 (ALX3), mRNA.	165						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCAGCTCCTCCAGCTGGAATG	0.582000														191			43		0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50666695	50666695	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:50666695C>T	uc001csb.2	+	6	1256	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C	ELAVL4_uc001cry.3_Missense_Mutation_p.R319C|ELAVL4_uc001crz.3_Missense_Mutation_p.R316C|ELAVL4_uc001csa.3_Missense_Mutation_p.R333C|ELAVL4_uc001csc.3_Missense_Mutation_p.R316C|ELAVL4_uc010omz.2_Missense_Mutation_p.R321C	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	330	RRM 3.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	p.R330C(2)|p.R333C(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						AAAGGTGATTCGTGACTTCAA	0.542000														94			35		0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92251508	92251509	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:92251508_92251509GG>AA	uc001xzu.4	-	10	1550_1551	c.1359_1360CC>TT	c.(1357-1362)ggccag>ggTTag	p.Q454*	TC2N_uc001xzt.4_Nonsense_Mutation_p.Q454*|TC2N_uc010auc.3_Nonsense_Mutation_p.Q390*|TC2N_uc001xzv.4_Nonsense_Mutation_p.Q454*	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	454	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CTACTAACCTGGCCCACAAAGT	0.322000														86			25		0	0	1	0	0
DPRX	503834	broad.mit.edu	37	19	54137908	54137908	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:54137908C>T	uc002qcf.1	+	1	203	c.152C>T	c.(151-153)tCg>tTg	p.S51L		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	Homo sapiens divergent-paired related homeobox (DPRX), mRNA.	51						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)		GAAATGGCCTCGAAAATAGAC	0.433000														66			55		0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18213556	18213556	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:18213556T>C	uc004cyj.4	-	6	1194	c.1040A>G	c.(1039-1041)aAa>aGa	p.K347R	BEND2_uc010nfb.2_Intron	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	347										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AAGTATAATTTTCTCAGCTAT	0.368000														45			17		0	0	1	0	0
OSBPL11	114885	broad.mit.edu	37	3	125298879	125298879	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:125298879A>G	uc003eic.3	-	2	976	c.239T>C	c.(238-240)tTt>tCt	p.F80S		NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN	Homo sapiens oxysterol binding protein-like 11 (OSBPL11), mRNA.	80	PH.				lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						GTTTAAAACAAAAAACCTGTA	0.343000														55			46		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7188330	7188330	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:7188330C>T	uc003bqm.2	+	1	985	c.711C>T	c.(709-711)tcC>tcT	p.S237S	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.S237S|GRM7_uc003bql.2_Silent_p.S237S	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	237					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)	GTGTGGAGTCCTTCACGCAGA	0.483000														25			16		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2817055	2817055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:2817055C>T	uc002crk.3	+	10	7075	c.6526C>T	c.(6526-6528)Cat>Tat	p.H2176Y	SRRM2_uc002crj.1_Missense_Mutation_p.H2080Y|SRRM2_uc002crl.1_Missense_Mutation_p.H2176Y|SRRM2_uc010bsu.1_Missense_Mutation_p.H2080Y	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2176	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						GCCAGAAAATCATGCTCAGTC	0.567000														104			40		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7495682	7495682	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:7495682C>T	uc003src.1	-	15	1481	c.1364G>A	c.(1363-1365)gGg>gAg	p.G455E	COL28A1_uc011jxe.1_Missense_Mutation_p.G138E|COL28A1_uc003srd.3_Missense_Mutation_p.G10E	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	455					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)		TACCTGTTCCCCTTGACTCCC	0.458000														58			8		0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40037717	40037717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:40037717C>T	uc001rmc.3	+	2	367	c.200C>T	c.(199-201)cCt>cTt	p.P67L	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	67										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AAGAAAATTCCTGGTAAGTCA	0.323000														40			11		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141272273	141272273	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:141272273C>T	uc002tvj.1	-	50	9190	c.8218G>A	c.(8218-8220)Gat>Aat	p.D2740N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2740	LDL-receptor class A 16.				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)		TCTTCTCCATCACAAATCCAA	0.348000										TSP Lung(27;0.18)				71			31		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099832	168099832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:168099832C>T	uc002udx.3	+	8	2019	c.1930C>T	c.(1930-1932)Cct>Tct	p.P644S	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.P469S|XIRP2_uc010fpq.3_Missense_Mutation_p.P422S|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	469					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						AGAGAAAATTCCTGAGCTAGC	0.433000														47			22		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42635286	42635286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:42635286G>A	uc010ggo.3	+	2	305	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	TOX2_uc002xle.4_Missense_Mutation_p.E47K|TOX2_uc010ggp.3_Missense_Mutation_p.E47K|TOX2_uc002xlf.4_Missense_Mutation_p.E98K|Metazoa_SRP_uc021wdz.1_5'Flank	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	98	Required for transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGGGGACCACGAAGCCAGCTA	0.617000														94			28		0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96803358	96803358	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:96803358C>T	uc010yui.2	-	1	137	c.137G>A	c.(136-138)gGa>gAa	p.G46E		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	46					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						GGCCTGGGTTCCCTCAGGGGT	0.607000														185			85		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100179181	100179181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:100179181G>A	uc001pga.3	+	20	3215	c.2711G>A	c.(2710-2712)gGa>gAa	p.G904E	CNTN5_uc001pfz.3_Missense_Mutation_p.G904E|CNTN5_uc021qpb.1_Missense_Mutation_p.G904E|CNTN5_uc021qpc.1_Missense_Mutation_p.G830E|CNTN5_uc010ruk.2_Missense_Mutation_p.G175E	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	904	Fibronectin type-III 3.				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)		GAGAGTCTAGGAAGACCACAG	0.423000														14			5		0	0	1	0	0
TXNL4B	54957	broad.mit.edu	37	16	72123027	72123027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:72123027G>A	uc002fca.3	-	2	454	c.143C>T	c.(142-144)aCc>aTc	p.T48I	TXNL4B_uc010cgl.2_Non-coding_Transcript|TXNL4B_uc010vmn.2_Missense_Mutation_p.T48I|TXNL4B_uc010vmo.2_Missense_Mutation_p.T48I	NM_017853	NP_060323	Q9NX01	TXN4B_HUMAN	Homo sapiens thioredoxin-like 4B (TXNL4B), transcript variant 1, mRNA.	48					RNA splicing|mRNA processing|mitosis	spliceosomal complex				cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						GTCAGAAGAGGTCTTAGAAAG	0.368000														57			34		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544594	82544594	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:82544594G>A	uc003uhx.2	-	6	12997	c.12708C>T	c.(12706-12708)ctC>ctT	p.L4236L	PCLO_uc003uhv.2_Silent_p.L4236L|PCLO_uc010lec.3_Silent_p.L1201L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4167	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						CATCTTGAAGGAGCCTTGCCC	0.398000														26			12		0	0	1	0	0
PKNOX2	63876	broad.mit.edu	37	11	125237848	125237849	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:125237848_125237849CC>TT	uc001qbu.3	+	4	508_509	c.194_195CC>TT	c.(193-195)gcc>gTT	p.A65V	PKNOX2_uc010saz.2_Missense_Mutation_p.A36V|PKNOX2_uc010sba.2_Missense_Mutation_p.A36V|PKNOX2_uc010sbb.2_Intron	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	Homo sapiens PBX/knotted 1 homeobox 2 (PKNOX2), mRNA.	65						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GACCCCCAGGCCCAGCTGGAGG	0.639000														47			15		0	0	1	0	0
STXBP1	6812	broad.mit.edu	37	9	130423393	130423393	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:130423393C>T	uc004brk.2	+	5	535	c.338C>T	c.(337-339)gCc>gTc	p.A113V	STXBP1_uc004brl.2_Missense_Mutation_p.A113V	NM_003165	NP_003156	P61764	STXB1_HUMAN	Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1, mRNA.	113					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TGTCCAGATGCCCTGTTTAAT	0.438000														97			34		0	0	1	0	0
PHKG2	5261	broad.mit.edu	37	16	30762461	30762461	+	Nonsense_Mutation	SNP	C	T	T	rs137853590		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:30762461C>T	uc002dzk.2	+	2	340	c.130C>T	c.(130-132)Cga>Tga	p.R44*	PHKG2_uc021tgo.1_Nonsense_Mutation_p.R44*|PHKG2_uc002dzl.1_Nonsense_Mutation_p.R44*	NM_000294	NP_000285	P15735	PHKG2_HUMAN	Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA.	44	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)			TTGTGTTCATCGAGCTACTGG	0.592000														86			23		0	0	1	0	0
HSPA7	3311	broad.mit.edu	37	1	161576413	161576413	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:161576413G>A	uc010pkp.1	+	0	565	c.333G>A	c.(331-333)ggG>ggA	p.G111G						Homo sapiens heat shock 70kDa protein 7 (HSP70B) (HSPA7), non-coding RNA.																		GCTACCGCGGGGAGGACAAGA	0.642000														69			26		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328367	80328367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:80328367G>A	uc003hlu.3	-	0	1006	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	330					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						CTTAGCCAACGAATAACAGCA	0.428000														120			40		0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105612287	105612287	+	Silent	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:105612287A>G	uc001yqg.3	-	22	3137	c.2733T>C	c.(2731-2733)tgT>tgC	p.C911C	JAG2_uc001yqf.3_Silent_p.C315C|JAG2_uc001yqh.3_Silent_p.C873C	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	911	VWFC.				Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CGGCCAGCAGACAAGGCTTCC	0.677000														12			4		0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939071	2939071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:2939071C>T	uc001ajz.3	+	0	1026	c.821C>T	c.(820-822)cCc>cTc	p.P274L		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	274						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)		AGCCAGAGCCCCGGGCTCTCG	0.632000														168			50		0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34546760	34546760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:34546760G>A	uc001zhw.3	-	7	1071	c.907C>T	c.(907-909)Cac>Tac	p.H303Y	SLC12A6_uc001zhv.3_Missense_Mutation_p.H252Y|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Missense_Mutation_p.H288Y|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Missense_Mutation_p.H244Y|SLC12A6_uc001zib.3_Missense_Mutation_p.H294Y|SLC12A6_uc001zic.3_Missense_Mutation_p.H303Y|SLC12A6_uc010bau.3_Missense_Mutation_p.H303Y|SLC12A6_uc001zid.3_Missense_Mutation_p.H244Y|SLC12A6_uc001zhu.3_Missense_Mutation_p.H115Y	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	303					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TCATCACTGTGAAAGATGGCA	0.393000														80			37		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135602062	135602062	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:135602062G>A	uc003lbn.2	-	4	1413	c.1191C>T	c.(1189-1191)atC>atT	p.I397I	TRPC7_uc010jef.2_Silent_p.I333I|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Intron|TRPC7_uc010jeh.2_Silent_p.I336I|TRPC7_uc010jei.2_Silent_p.I281I	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	397					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATCCCAAGAAGATTGTAAAAG	0.403000														30			22		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21221024	21221024	+	Silent	SNP	C	T	T	rs150656642		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:21221024C>T	uc010bwn.1	-	3	457	c.375G>A	c.(373-375)ccG>ccA	p.P125P	ZP2_uc002dii.2_Silent_p.P86P|ZP2_uc010bwo.3_Silent_p.P125P	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	86					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)		AAGTGCAGTTCGGCATGTCGA	0.498000														47			12		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120569807	120569807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:120569807G>A	uc001txo.3	-	53	7350	c.7337C>T	c.(7336-7338)tCa>tTa	p.S2446L		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	2446					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)					GCACCCGGCTGAGGAGATGCG	0.572000														23			6		0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99117470	99117470	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:99117470C>T	uc003uqv.3	+	3	698	c.574C>T	c.(574-576)Cct>Tct	p.P192S	ZKSCAN5_uc010lfx.3_Missense_Mutation_p.P192S|ZKSCAN5_uc003uqw.3_Missense_Mutation_p.P192S|ZKSCAN5_uc003uqx.3_Intron|ZKSCAN5_uc003uqy.3_5'UTR	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	192					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCTCCAAGTTCCTTCCCTTCC	0.532000														98			33		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62547948	62547948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:62547948G>A	uc001xfu.1	+	3	1587	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_Missense_Mutation_p.E22K	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	464								p.P463P(1)		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)		CCCAGAAGGGGAAATGAAAGT	0.498000														27			12		0	0	1	0	0
SMA	0	broad.mit.edu	37	5	68902970	68902970	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:68902970C>T	uc010ixi.1	+	0		c.45C>T								Homo sapiens cDNA, FLJ18088.																		AGCATTTGTTCTTCAGCCACA	0.398000														114			31		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69879748	69879748	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:69879748G>A	uc011cao.1	-	4	986	c.860C>T	c.(859-861)cCa>cTa	p.P287L	UGT2B10_uc011can.1_Missense_Mutation_p.P203L			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	331					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TACCTTTTGTGGGATCTTGGC	0.408000														76			9		0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42172184	42172184	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:42172184G>A	uc003baz.1	+	20	2648	c.2623G>A	c.(2623-2625)Gat>Aat	p.D875N	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Missense_Mutation_p.D261N|MEI1_uc003bbc.1_Missense_Mutation_p.D243N|MEI1_uc010gym.1_Missense_Mutation_p.D243N|MEI1_uc003bbd.1_Missense_Mutation_p.D118N|MEI1_uc010gyn.1_Non-coding_Transcript|MEI1_uc003bbe.1_Non-coding_Transcript	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	875							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						GAGGAATGAGGATATCCAAGT	0.562000														109			45		0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152749094	152749094	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:152749094C>G	uc010pdv.2	+	0	247	c.247C>G	c.(247-249)Cgt>Ggt	p.R83G		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	83	Poly-Arg.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACAGACGGCGTAGGTCCCA	0.701000														75			31		0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52309284	52309284	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:52309284G>A	uc001rzj.3	+	7	1331	c.1048_splice	c.e7+1	p.G350_splice	ACVRL1_uc001rzk.3_Splice_Site_p.G350_splice|ACVRL1_uc010snm.2_Splice_Site_p.G176_splice	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	350	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CGCCGACCTGGGTGAGCCGGG	0.622000														36			15		0	0	1	0	0
ZNF212	7988	broad.mit.edu	37	7	148951428	148951428	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:148951428C>T	uc003wfp.3	+	4	1538	c.1410C>T	c.(1408-1410)ctC>ctT	p.L470L		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	Homo sapiens zinc finger protein 212 (ZNF212), mRNA.	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			AGCAGCACCTCCTGCAGCACC	0.647000														129			48		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160143376	160143376	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:160143376C>T	uc001fve.4	+	12	2339	c.1860C>T	c.(1858-1860)atC>atT	p.I620I	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Silent_p.I123I	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	620					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCAGGTGATCATGGTAACAG	0.527000														159			50		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149506159	149506159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:149506159C>T	uc010lpk.3	+	62	9142	c.9142C>T	c.(9142-9144)Ccg>Tcg	p.P3048S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3051	TSP type-1 10.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTTGGTCTCCGTGCTCCGT	0.687000														27			12		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164716441	164716441	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	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)				17			19		0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150443485	150443485	+	Silent	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:150443485A>G	uc009wlr.3	+	10	2262	c.2061A>G	c.(2059-2061)ttA>ttG	p.L687L	RPRD2_uc010pcc.1_Silent_p.L661L|RPRD2_uc001eup.4_Silent_p.L661L	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	687	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GCTTAAACTTAAACATCCCAA	0.502000														113			59		0	0	1	0	0
LCP1	3936	broad.mit.edu	37	13	46726977	46726977	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:46726977C>T	uc001vaz.4	-	6	803	c.677G>A	c.(676-678)gGa>gAa	p.G226E	LCP1_uc001vba.4_Missense_Mutation_p.G226E	NM_002298	NP_002289	P13796	PLSL_HUMAN	Homo sapiens lymphocyte cytosolic protein 1 (L-plastin) (LCP1), mRNA.	226	Actin-binding 1.|CH 1.				T cell activation involved in immune response|regulation of intracellular protein transport	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CCACAGAAGTCCCAGGACCAG	0.493000			T	BCL6	NHL									28			20		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71778790	71778790	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:71778790G>A	uc010fen.3	+	18	1887	c.1746G>A	c.(1744-1746)ctG>ctA	p.L582L	DYSF_uc010fei.3_Silent_p.L581L|DYSF_uc010feh.3_Silent_p.L550L|DYSF_uc002sig.4_Silent_p.L550L|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.L595L|DYSF_uc010fee.3_Silent_p.L564L|DYSF_uc010fef.3_Silent_p.L581L|DYSF_uc002sie.3_Silent_p.L564L|DYSF_uc010feo.3_Silent_p.L596L|DYSF_uc010fej.3_Silent_p.L551L|DYSF_uc010fel.3_Silent_p.L551L|DYSF_uc010fem.3_Silent_p.L565L|DYSF_uc002sif.3_Silent_p.L565L|DYSF_uc010fek.3_Silent_p.L582L	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	564						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						AGACCAAGCTGGTGGAGCACA	0.652000														62			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140263676	140263676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140263676C>T	uc003lif.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_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.S608L|PCDHAC2_uc003lid.3_Missense_Mutation_p.S608L	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	621	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)			GCGTGGCTTTCGTATGAATTG	0.682000														126			74		0	0	1	0	0
OR52N2	390077	broad.mit.edu	37	11	5842052	5842052	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:5842052C>T	uc010qzp.2	+	0	487	c.487C>T	c.(487-489)Ctc>Ttc	p.L163F	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCATTCACTCTCCTCACCAA	0.537000														92			21		0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5345133	5345133	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:5345133G>A	uc001mao.1	-	0	450	c.395C>T	c.(394-396)tCc>tTc	p.S132F	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.	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGAGAATGGAAGCATATCT	0.418000														54			11		0	0	1	0	0
TRIM39-RPP21	202658	broad.mit.edu	37	6	30308352	30308352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:30308352C>T	uc010jrz.3	+	7	1276	c.964C>T	c.(964-966)Ccc>Tcc	p.P322S	TRIM39-RPP21_uc003npz.3_Missense_Mutation_p.P292S|TRIM39-RPP21_uc003nqb.3_Missense_Mutation_p.P292S|TRIM39-RPP21_uc003nqc.3_Missense_Mutation_p.P292S|TRIM39-RPP21_uc010jsa.2_Missense_Mutation_p.P292S	NM_021253	NP_067076	A6ZJ12	A6ZJ12_HUMAN	Homo sapiens tripartite motif containing 39 (TRIM39), transcript variant 1, mRNA.	204						intracellular	zinc ion binding										CAGCAATTTTCCCCGACAGTA	0.413000														131			46		0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180432727	180432727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:180432727C>T	uc003mmr.3	+	7	1440	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	BTNL3_uc010jlp.3_Missense_Mutation_p.S204F	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	419	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)			GGGACCATCTCCTTCTTCAAT	0.478000														48			25		0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726755	32726755	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:32726755G>A	uc003obz.2	-	2	601	c.518C>T	c.(517-519)tCc>tTc	p.S173F	HLA-DQB2_uc003oby.4_Missense_Mutation_p.S173F	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	173					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTAATGAGGGAGGTGGACAC	0.547000														82			40		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021641	132021641	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:132021641C>T	uc002tsn.2	+	14	2665	c.2613C>T	c.(2611-2613)ctC>ctT	p.L871L	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.L471L|POTEE_uc002tsl.2_Silent_p.L453L|POTEE_uc010fmy.1_Silent_p.L335L	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	871	Actin-like.						ATP binding										GGAATGCCCTCCCCCATGCCA	0.622000														100			35		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65486505	65486505	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:65486505C>T	uc011moz.2	+	20	3767	c.3630C>T	c.(3628-3630)ttC>ttT	p.F1210F	HEPH_uc004dwn.3_Silent_p.F1158F|HEPH_uc004dwo.3_Silent_p.F889F|HEPH_uc010nkr.3_Silent_p.F967F|HEPH_uc011mpa.2_Silent_p.F1159F	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	1156					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						TTCTGTCTTTCAAACAGTAAC	0.507000														8			15		0	0	1	0	0
ANXA10	11199	broad.mit.edu	37	4	169049279	169049279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:169049279G>A	uc003irm.3	+	1	227	c.63G>A	c.(61-63)atG>atA	p.M21I		NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	21							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)		ATCCCATAATGGATGCCCAAA	0.363000														22			21		0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156381661	156381661	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:156381661C>T	uc003lwh.2	-	1	222	c.165G>A	c.(163-165)ggG>ggA	p.G55G	TIMD4_uc010jii.2_Silent_p.G55G	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	55	Ig-like V-type.					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)			ACTGGTCTTTCCCCCAGCACA	0.532000														85			58		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119785	38119785	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:38119785C>T	uc003atr.3	+	6	1493	c.1222C>T	c.(1222-1224)Cag>Tag	p.Q408*	TRIOBP_uc003atu.3_Nonsense_Mutation_p.Q236*|TRIOBP_uc003atq.1_Nonsense_Mutation_p.Q408*|TRIOBP_uc003ats.1_Nonsense_Mutation_p.Q236*	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	408					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)					ATCCTGTGCCCAGCGGGACAA	0.592000														145			93		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24358371	24358371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:24358371C>T	uc003xeb.3	+	18	2184	c.2071C>T	c.(2071-2073)Cgt>Tgt	p.R691C	ADAM7_uc003xec.3_Missense_Mutation_p.R463C	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	691					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.R691C(2)|p.R691H(1)		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)		ACTATTAGTTCGTTACCGAAA	0.373000														62			26		0	0	1	0	0
RCBTB2	1102	broad.mit.edu	37	13	49073831	49073831	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:49073831G>A	uc010tgg.2	-	11	1616	c.1325C>T	c.(1324-1326)tCa>tTa	p.S442L	RCBTB2_uc001vci.3_Missense_Mutation_p.S413L|RCBTB2_uc010tgh.2_Missense_Mutation_p.S163L|RCBTB2_uc001vch.3_Missense_Mutation_p.S437L|RCBTB2_uc001vcj.3_Missense_Mutation_p.S389L|RCBTB2_uc010acv.1_Non-coding_Transcript	NM_001268	NP_001259	O95199	RCBT2_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 (RCBTB2), mRNA.	437	BTB 1.						Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		AACAGGATATGAAAATTCACT	0.418000														53			40		0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:39296167A>G	uc010cxk.2	-	0	573	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000														23			4		0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39681451	39681451	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:39681451G>A	uc010wfs.2	-	4	992	c.984C>T	c.(982-984)ttC>ttT	p.F328F	JUP_uc002hxd.4_Silent_p.F165F	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, 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)		ACTTGGTTCGGAAGTCATCTG	0.567000														222			68		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21639432	21639432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:21639432C>T	uc003svc.3	+	14	2726	c.2695C>T	c.(2695-2697)Ccc>Tcc	p.P899S		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	899	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAAAGCCAATCCCTCTCTGGA	0.343000									Kartagener syndrome					23			6		0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	853510	853511	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:853510_853511CC>TT	uc003gbm.4	-	24	3366	c.3167_splice	c.e24-1	p.G1056_splice	GAK_uc003gbn.4_Splice_Site_p.G977_splice|GAK_uc010ibj.3_Splice_Site|GAK_uc003gbl.4_Splice_Site_p.G909_splice	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	1056					cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GAAGAGGGGGCCTGGAGAAGGG	0.604000														110			20		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137150693	137150693	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:137150693G>A	uc003vtt.3	-	26	2598	c.2597C>T	c.(2596-2598)cCt>cTt	p.P866L	DGKI_uc003vtu.3_Missense_Mutation_p.P576L	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	866					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CATGCCCGGAGGTGTCCCCGC	0.542000														73			34		0	0	1	0	0
MXRA8	54587	broad.mit.edu	37	1	1289773	1289773	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:1289773G>A	uc001aex.4	-	5	1097	c.1066C>T	c.(1066-1068)Ctg>Ttg	p.L356L	MXRA8_uc001aew.3_Silent_p.L356L|MXRA8_uc001aey.4_Silent_p.L356L|MXRA8_uc001aez.3_Silent_p.L255L|MXRA8_uc001afa.3_Silent_p.L347L	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	Homo sapiens matrix-remodelling associated 8 (MXRA8), mRNA.	356						integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACAGTGACCAGTAGCAGGATG	0.682000														41			17		0	0	1	0	0
C4B	721	broad.mit.edu	37	6	31997489	31997489	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:31997489C>T	uc011dpd.2	+	28	3874	c.3823C>T	c.(3823-3825)Cac>Tac	p.H1275Y	C4B_uc011dpe.2_Missense_Mutation_p.H1275Y	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	1275					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										CCTCCTGCTTCACGAGGGCAA	0.672000														132			20		0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26864160	26864160	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:26864160T>G	uc010crm.3	+	8	1851	c.1653T>G	c.(1651-1653)gaT>gaG	p.D551E	FOXN1_uc002hbj.3_Missense_Mutation_p.D551E	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	551					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					AGTTGAAGGATGATAGCTTGG	0.612000														131			43		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31165110	31165110	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:31165110C>T	uc002rns.3	-	9	1543	c.903G>A	c.(901-903)ggG>ggA	p.G301G	GALNT14_uc002rnq.3_Silent_p.G276G|GALNT14_uc010ymr.2_Silent_p.G261G|GALNT14_uc002rnr.3_Silent_p.G296G|GALNT14_uc010ezo.2_Silent_p.G263G|GALNT14_uc010ezp.1_Intron	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	296	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TATCATATTTCCCCAGGTAAT	0.493000														107			38		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46859931	46859931	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:46859931G>A	uc003bhw.1	-	1	3856	c.3856C>T	c.(3856-3858)Ctg>Ttg	p.L1286L		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1286					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTCCGATTCAGGTAGATCTGC	0.632000														122			88		0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31090315	31090315	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:31090315C>T	uc002eap.3	+	1	2959	c.2670C>T	c.(2668-2670)ttC>ttT	p.F890F	ZNF646_uc021tgu.1_Silent_p.F890F	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	890					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCATGATCTTCCCTGGGCGGG	0.642000														69			28		0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156773440	156773440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:156773440C>T	uc003ipe.1	-	3	661	c.614G>A	c.(613-615)gGa>gAa	p.G205E		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.	205						integral to membrane|plasma membrane											AAAACAATTTCCATATTCAGT	0.343000														35			6		0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44887479	44887479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:44887479C>T	uc001ztx.3	-	25	4644	c.4613G>A	c.(4612-4614)aGa>aAa	p.R1538K	SPG11_uc010ueh.2_Missense_Mutation_p.R1538K|SPG11_uc010uei.2_Missense_Mutation_p.R1538K|SPG11_uc001zty.1_Missense_Mutation_p.R267K	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	1538					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)		CTGGAAACCTCTGATGAGAGT	0.393000														89			27		0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642723	1642723	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:1642723A>C	uc009ycy.1	-	2	583	c.496T>G	c.(496-498)Tca>Gca	p.S166A	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	261	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)		CAGCAGGATGACCCACAACCT	0.592000														219			90		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824495	74824495	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:74824495C>G	uc021rwl.1	+	0	1009	c.1009C>G	c.(1009-1011)Cag>Gag	p.Q337E	VRTN_uc001xpw.4_Missense_Mutation_p.Q337E	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	337					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						GCAGTTCCTCCAGCGGTTCCC	0.667000														134			46		0	0	1	0	0
MRRF	92399	broad.mit.edu	37	9	125075623	125075623	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:125075623G>A	uc010mwa.3	+	5	1033	c.669G>A	c.(667-669)aaG>aaA	p.K223K	MRRF_uc010mvz.2_Non-coding_Transcript|MRRF_uc011lyr.2_Silent_p.K171K|MRRF_uc004bme.3_Non-coding_Transcript|MRRF_uc022bmy.1_Intron	NM_138777	NP_620132	Q96E11	RRFM_HUMAN	Homo sapiens mitochondrial ribosome recycling factor (MRRF), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	223					ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						AGAAATCCAAGGATACAGTCT	0.428000														74			29		0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156437203	156437203	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:156437203C>T	uc003wmo.3	+	2	256	c.26C>T	c.(25-27)tCt>tTt	p.S9F	RNF32_uc010lql.1_Non-coding_Transcript|RNF32_uc010lqm.3_Missense_Mutation_p.S9F|RNF32_uc003wmq.3_Missense_Mutation_p.S9F|RNF32_uc003wmr.3_Missense_Mutation_p.S9F|RNF32_uc003wms.3_Missense_Mutation_p.S9F|RNF32_uc003wmu.3_Non-coding_Transcript|RNF32_uc003wmt.3_Missense_Mutation_p.S9F	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	Homo sapiens ring finger protein 32 (RNF32), transcript variant 3, mRNA.	9						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GGTCACTCATCTAAGAAAGAT	0.333000														106			27		0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134239698	134239698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:134239698G>A	uc003yub.3	+	4	955	c.849G>A	c.(847-849)atG>atA	p.M283I	WISP1_uc003yuc.3_Missense_Mutation_p.M196I|WISP1_uc010meb.3_Missense_Mutation_p.M111I|WISP1_uc010mec.3_Missense_Mutation_p.E132K|WISP1_uc010med.3_Missense_Mutation_p.M38I|WISP1_uc003yud.3_Non-coding_Transcript	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	283	CTCK.				Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AGGCATCCATGAACTTCACAC	0.517000														103			23		0	0	1	0	0
PRR23A	729627	broad.mit.edu	37	3	138724853	138724853	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:138724853C>T	uc011bms.2	-	0	258	c.258G>A	c.(256-258)tcG>tcA	p.S86S		NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN	Homo sapiens proline rich 23A (PRR23A), mRNA.	86										endometrium(3)|kidney(1)|lung(7)	11						CTCGCAGGATCGACGTTGGCG	0.662000														45			10		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58155360	58155360	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:58155360C>T	uc003djj.2	+	44	7626	c.7461C>T	c.(7459-7461)tcC>tcT	p.S2487S	FLNB_uc010hne.2_Silent_p.S2518S|FLNB_uc003djk.2_Silent_p.S2476S|FLNB_uc010hnf.2_Silent_p.S2463S|FLNB_uc003djl.2_Silent_p.S2307S|FLNB_uc003djm.2_Silent_p.S2294S|BC041347_uc003djn.3_Intron	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2487	Hinge 2 (By similarity).|Interaction with INPPL1.|Self-association site, tail (By similarity).			S -> C (in Ref. 11; AAA35505).	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)		AGACCTCATCCATCCTGGTGG	0.587000														350			83		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32030250	32030250	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:32030250C>T	uc003nzl.2	-	19	7054	c.6852G>A	c.(6850-6852)aaG>aaA	p.K2284K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2353	Fibronectin type-III 15.				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						TTTCTTCATCCTTTCCTGGGG	0.582000														266			86		0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33074204	33074204	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:33074204G>A	uc002ypd.2	-	5	911	c.485C>T	c.(484-486)tCt>tTt	p.S162F	SCAF4_uc002ype.2_Missense_Mutation_p.S162F|SCAF4_uc010glu.2_Missense_Mutation_p.S147F|SCAF4_uc002ypf.1_5'UTR|SCAF4_uc002ypg.2_Missense_Mutation_p.S162F	NM_020706	NP_065757	O95104	SFR15_HUMAN	Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.	162						nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AGGTTCAGAAGAAACTTTTAC	0.448000														51			20		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21049164	21049164	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:21049164C>T	uc010vbe.2	-	33	4869	c.4869G>A	c.(4867-4869)gaG>gaA	p.E1623E		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1623					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)		CACTTTCATTCTCCTCTGGAT	0.512000														45			8		0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35579545	35579545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:35579545G>A	uc001bym.3	+	9	2260	c.2114G>A	c.(2113-2115)gGa>gAa	p.G705E	ZMYM1_uc001byn.3_Missense_Mutation_p.G705E|ZMYM1_uc010ohu.2_Missense_Mutation_p.G686E|ZMYM1_uc001byo.3_Missense_Mutation_p.G345E|ZMYM1_uc009vut.3_Missense_Mutation_p.G630E	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	705						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGCAAATTGGAGTTGATATG	0.353000														107			49		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133795736	133795736	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:133795736G>A	uc001qgx.4	-	13	2163	c.1932C>T	c.(1930-1932)atC>atT	p.I644I	IGSF9B_uc001qgy.1_Silent_p.I486I	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	644	Fibronectin type-III 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGTAGCGGTCGATGGGAAAGC	0.612000														28			24		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112591	148112591	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:148112591C>T	uc003weu.2	+	23	4395	c.3879C>T	c.(3877-3879)taC>taT	p.Y1293Y	CNTNAP2_uc003wev.2_Silent_p.Y70Y	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1293					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)			AGGGCACCTACCATACCAACG	0.547000										HNSCC(39;0.1)				76			29		0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43339380	43339380	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:43339380G>A	uc001zqq.3	-	13	1713	c.1647C>T	c.(1645-1647)ttC>ttT	p.F549F	UBR1_uc010udk.1_Silent_p.F549F	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	549					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACCACTCTTGGAACATGAGTA	0.363000														179			68		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999403	46999403	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:46999403G>A	uc001jec.3	+	2	658	c.523G>A	c.(523-525)Gac>Aac	p.D175N	GPRIN2_uc021ppt.1_Missense_Mutation_p.D175N	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	175										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CCTGGAAAGGGACCTGGCTCC	0.637000														52			16		0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42085753	42085753	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:42085753G>A	uc002ore.4	+	2	568	c.472G>A	c.(472-474)Gag>Aag	p.E158K	CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Missense_Mutation_p.E158K	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	158	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CACAGTCACAGAGAAGGGCTC	0.537000														40			23		0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86898134	86898134	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:86898134A>T	uc001dlr.4	+	4	829	c.667A>T	c.(667-669)Aaa>Taa	p.K223*		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	223					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)		TAAGCTTTTTAAAGAAGGATG	0.363000														104			100		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117826195	117826195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:117826195G>A	uc004bjj.4	-	11	4052	c.3640C>T	c.(3640-3642)Cca>Tca	p.P1214S	TNC_uc010mvf.3_Missense_Mutation_p.P1214S|TNC_uc022bmj.1_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1214	Fibronectin type-III 7.				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						AGTCCTCCTGGGACGGTGAGG	0.562000														95			34		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641457	99641457	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:99641457C>T	uc001yga.3	-	3	1983	c.1716G>A	c.(1714-1716)ggG>ggA	p.G572G	BCL11B_uc001ygb.3_Silent_p.G501G	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	572	Gly-rich.					nucleus	zinc ion binding	p.G643G(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)		ccccgggcACCCCACCACCGC	0.711000			T	TLX3	T-ALL									37			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179634635	179634635	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179634635G>A	uc021vsy.1	-	36	8898	c.8673C>T	c.(8671-8673)atC>atT	p.I2891I	TTN_uc021vsz.1_Silent_p.I2845I|TTN_uc021vta.1_Silent_p.I2845I|TTN_uc021vtb.1_Silent_p.I2845I|TTN_uc002unb.2_Silent_p.I2891I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2891	Ig-like 16.						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)			CAGGCACCTCGATATTTTTCA	0.373000														80			36		0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3990781	3990781	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:3990781G>A	uc002fxe.3	-	13	2353	c.2289C>T	c.(2287-2289)ttC>ttT	p.F763F	ZZEF1_uc002fxk.1_Silent_p.F763F	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	763							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						CAAGACCCGCGAAGTCCAGAA	0.303000														41			27		0	0	1	0	0
CHCHD1	118487	broad.mit.edu	37	10	75541846	75541846	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:75541846A>G	uc001jvc.4	+	0	39	c.13A>G	c.(13-15)Agc>Ggc	p.S5G	CHCHD1_uc001jvb.2_Missense_Mutation_p.S5G	NM_203298	NP_976043	Q96BP2	CHCH1_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 1 (CHCHD1), mRNA.	5						nucleus				breast(1)	1	Prostate(51;0.0112)					GGCGACACCCAGCCTGCGGGG	0.677000														90			51		0	0	1	0	0
MNT	4335	broad.mit.edu	37	17	2298631	2298631	+	Missense_Mutation	SNP	G	A	A	rs138518103		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:2298631G>A	uc002fur.3	-	1	443	c.191C>T	c.(190-192)cCc>cTc	p.P64L		NM_020310	NP_064706	Q99583	MNT_HUMAN	Homo sapiens MAX binding protein (MNT), mRNA.	64					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.P63P(1)		endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		cagaggcaggggtggCGCCTC	0.657000														56			38		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110454391	110454391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:110454391G>A	uc003yne.3	+	34	4464	c.4360G>A	c.(4360-4362)Gga>Aga	p.G1454R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1454	IPT/TIG 7.				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)			TGATGGCAAAGGATTCACAAG	0.373000										HNSCC(38;0.096)				20			6		0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	91993723	91993723	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:91993723C>T	uc004aqo.1	-	17	3057	c.2485G>A	c.(2485-2487)Gat>Aat	p.D829N	SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Missense_Mutation_p.D829N	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	829					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TCCTCCCTATCCGTGGGGACT	0.587000														109			37		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61835056	61835056	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:61835056C>T	uc001jky.3	-	36	5921	c.5583G>A	c.(5581-5583)acG>acA	p.T1861T	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.	1861	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GATGTGTCTCCGTAGTCAATG	0.423000														57			34		0	0	1	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33877671	33877671	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:33877671C>T	uc003cfx.3	+	7	1125	c.970C>T	c.(970-972)Cca>Tca	p.P324S	PDCD6IP_uc003cfy.3_Missense_Mutation_p.P329S|PDCD6IP_uc011axw.2_Missense_Mutation_p.P105S	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	Homo sapiens programmed cell death 6 interacting protein (PDCD6IP), transcript variant 1, mRNA.	324	BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TGATCGAGTTCCAGACCTTAA	0.383000														228			43		0	0	1	0	0
LOC441601	441601	broad.mit.edu	37	11	50254422	50254422	+	RNA	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:50254422G>A	uc001nhd.3	-	1		c.367C>T								Homo sapiens septin 7 pseudogene (LOC441601), non-coding RNA.																		TTAATTCTGTGAGAAGGACCT	0.328000														39			6		0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96416852	96416852	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:96416852C>T	uc004aub.3	+	6	1094	c.947C>T	c.(946-948)cCc>cTc	p.P316L	PHF2_uc011lug.1_Missense_Mutation_p.P199L	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	316	JmjC.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 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			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CTCTTCATCCCCTCAGGTGAG	0.597000														192			62		0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115304600	115304600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:115304600G>A	uc022cdd.1	+	0	1067	c.1067G>A	c.(1066-1068)aGa>aAa	p.R356K	AGTR2_uc004eqh.4_Missense_Mutation_p.R356K	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	356					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						AGTTCTCTTAGAGAAATGGAG	0.423000														41			23		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187517878	187517878	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:187517878G>A	uc003izf.3	-	24	13004	c.12816C>T	c.(12814-12816)tcC>tcT	p.S4272S	FAT1_uc010isn.3_5'Flank	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	4272					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCCTTCGAAGGAATTTCGGT	0.532000										HNSCC(5;0.00058)				49			13		0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6588438	6588438	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:6588438G>A	uc003zkc.3	-	13	1863	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	557					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CATGGTGCAGGATCCCTTTAA	0.448000														88			26		0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36564614	36564614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:36564614C>T	uc001bzv.2	-	1	675	c.668G>A	c.(667-669)gGt>gAt	p.G223D	COL8A2_uc001bzw.2_Missense_Mutation_p.G158D	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	223	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging	p.G222W(1)		NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCGGGGGCACCCCCCTGCCC	0.726000														27			14		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131521646	131521646	+	Silent	SNP	G	A	A	rs79461100	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:131521646G>A	uc021voy.1	+	0	2001	c.2001G>A	c.(1999-2001)ctG>ctA	p.L667L	FAM123C_uc002trw.2_Silent_p.L667L|FAM123C_uc010fmv.2_Silent_p.L667L|FAM123C_uc010fms.1_Silent_p.L667L|FAM123C_uc010fmt.1_Silent_p.L667L|FAM123C_uc010fmu.1_Silent_p.L667L	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	667										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GTGACACTCTGGATGCAGAGC	0.652000														22			13		0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45717957	45717957	+	Silent	SNP	G	A	A	rs143429707	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:45717957G>A	uc002xsm.3	+	7	1115	c.741G>A	c.(739-741)ggG>ggA	p.G247G	EYA2_uc010ghp.3_Silent_p.G247G|EYA2_uc002xsq.3_Silent_p.G247G	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	247					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCTCCGACGGGAAGCTCCGAG	0.577000														125			57		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11098815	11098815	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:11098815C>T	uc003jfa.1	-	14	2654	c.2509G>A	c.(2509-2511)Ggg>Agg	p.G837R	CTNND2_uc010itt.2_Missense_Mutation_p.G746R|CTNND2_uc011cmy.1_Missense_Mutation_p.G500R|CTNND2_uc011cmz.1_Missense_Mutation_p.G404R|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.G404R	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	837					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						ATCTGGATCCCTTTTGGTGGT	0.517000														69			25		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139323151	139323151	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:139323151G>A	uc003yuy.3	-	2	261	c.90C>T	c.(88-90)atC>atT	p.I30I	FAM135B_uc003yux.3_5'UTR|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	30								p.Q29K(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)			AGGTCACTCGGATCTGGTAAT	0.483000										HNSCC(54;0.14)				61			30		0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231256845	231256845	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:231256845C>T	uc010fxm.1	+	11	1099	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	SP140L_uc010fxo.1_Silent_p.F108F	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	336	SAND.					nucleus	DNA binding|metal ion binding	p.F336F(3)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GAAAATGGTTCACCCCCATGG	0.527000														63			27		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36482965	36482965	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:36482965C>T	uc002hpz.3	-	10	6508	c.6487G>A	c.(6487-6489)Gga>Aga	p.G2163R		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	2163						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)				TCCGTCCCTCCAGGTCCTGCC	0.592000														188			60		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12461714	12461714	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:12461714C>T	uc001atv.3	+	61	11979	c.11838C>T	c.(11836-11838)ctC>ctT	p.L3946L	VPS13D_uc001atw.3_Silent_p.L3921L|VPS13D_uc001atx.3_Silent_p.L3133L|VPS13D_uc009vnl.3_Non-coding_Transcript	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3945					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)		AGAAACTGCTCCTCAAGCTGC	0.393000														117			46		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33567524	33567524	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:33567524G>A	uc002xbi.2	+	6	702	c.385G>A	c.(385-387)Gag>Aag	p.E129K	MYH7B_uc010gfa.1_Missense_Mutation_p.E87K	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	87	Myosin head-like.					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)			CGACTTACTGGAGGACATGGC	0.647000														96			45		0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116457155	116457155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:116457155G>A	uc001tvw.3	-	6	938	c.883C>T	c.(883-885)Cct>Tct	p.P295S		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	295				PQSVA -> SISLI (in Ref. 5; BAA82977).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACACTCTGAGGAACCGGGATG	0.507000														68			24		0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8688801	8688801	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:8688801C>T	uc001quo.1	-	5	538	c.373_splice	c.e5-1	p.E125_splice		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	125	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					GAAAGGAATTCCTATGGAAGA	0.373000														57			27		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718947	42718947	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:42718947C>T	uc021xxv.1	+	9	1496	c.1359C>T	c.(1357-1359)ccC>ccT	p.P453P	GHR_uc003jmt.3_Silent_p.P446P|GHR_uc003jmu.3_Silent_p.P446P|GHR_uc003jmv.2_Silent_p.P446P|GHR_uc021xxw.1_Silent_p.P446P|GHR_uc021xxx.1_Silent_p.P446P|GHR_uc021xxy.1_Silent_p.P446P|GHR_uc021xxz.1_Silent_p.P446P|GHR_uc021xya.1_Silent_p.P446P|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Silent_p.P259P|GHR_uc021xyd.1_Silent_p.P424P	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	446					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)	CTCAGCAGCCCAGTGTTATCC	0.453000														50			19		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38834547	38834547	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:38834547C>T	uc021yzh.1	+	46	6697	c.6588C>T	c.(6586-6588)atC>atT	p.I2196I	DNAH8_uc003ooe.2_Silent_p.I1979I	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						ATTTTCAGATCATTATGAGAG	0.299000														49			16		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69666069	69666069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:69666069C>T	uc010kak.3	+	5	1625	c.1349C>T	c.(1348-1350)cCt>cTt	p.P450L	BAI3_uc003pev.4_Missense_Mutation_p.P450L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	450	TSP type-1 3.				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)				TGCTATAACCCTGAATGTACA	0.517000														8			5		0	0	1	0	0
LOXL1	4016	broad.mit.edu	37	15	74238784	74238784	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:74238784A>T	uc002awc.1	+	2	1574	c.1238A>T	c.(1237-1239)gAc>gTc	p.D413V		NM_005576	NP_005567	Q08397	LOXL1_HUMAN	Homo sapiens lysyl oxidase-like 1 (LOXL1), mRNA.	413	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						GAGGCCACCGACTACGATGTG	0.677000														17			5		0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74453570	74453570	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:74453570C>T	uc003hhd.1	-	4	588	c.465G>A	c.(463-465)agG>agA	p.R155R	RASSF6_uc003hhc.1_Silent_p.R123R|RASSF6_uc010iik.1_Silent_p.R123R|RASSF6_uc010iil.1_Silent_p.R111R	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	155					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CCTGGGAATTCCTTTTTTCAG	0.368000														29			13		0	0	1	0	0
LACRT	90070	broad.mit.edu	37	12	55026969	55026969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:55026969C>T	uc001sgi.1	-	1	145	c.107G>A	c.(106-108)gGg>gAg	p.G36E		NM_033277	NP_150593	Q9GZZ8	LACRT_HUMAN	Homo sapiens lacritin (LACRT), mRNA.	36					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	p.G36G(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						CTCACAGGTCCCAGCTTCCTG	0.582000														217			66		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58154221	58154221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:58154221C>T	uc003djj.2	+	43	7418	c.7253C>T	c.(7252-7254)tCc>tTc	p.S2418F	FLNB_uc010hne.2_Missense_Mutation_p.S2449F|FLNB_uc003djk.2_Missense_Mutation_p.S2407F|FLNB_uc010hnf.2_Missense_Mutation_p.S2394F|FLNB_uc003djl.2_Missense_Mutation_p.S2238F|FLNB_uc003djm.2_Missense_Mutation_p.S2225F|BC041347_uc003djn.3_Intron	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2418	Interaction with INPPL1.				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)		GGGACATTATCCGTCACCATC	0.488000														60			46		0	0	1	0	0
MOB2	81532	broad.mit.edu	37	11	1491702	1491702	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:1491702G>A	uc010qwz.2	-	4	669	c.507C>T	c.(505-507)agC>agT	p.S169S	MOB2_uc001ltq.2_Silent_p.S132S|MOB2_uc001lto.2_Silent_p.S53S|MOB2_uc001ltp.1_5'UTR	NM_001172223	NP_001165694	Q70IA6	MOB2_HUMAN	Homo sapiens MOB kinase activator 2 (MOB2), transcript variant 1, mRNA.	138						nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|kidney(2)|lung(1)	4						ACTCAAAGGAGCTGGGGAATT	0.627000														55			9		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123145765	123145765	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:123145765C>T	uc003ieh.3	+	20	2771	c.2726C>T	c.(2725-2727)tCc>tTc	p.S909F	KIAA1109_uc003iei.1_Missense_Mutation_p.S662F|KIAA1109_uc010ins.1_Missense_Mutation_p.S252F|KIAA1109_uc003iej.1_Missense_Mutation_p.S294F	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	909					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGAAGCGATTCCTTAGAATAC	0.463000														67			16		0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202149718	202149718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:202149718G>A	uc002uxr.1	+	8	1191	c.982G>A	c.(982-984)Gga>Aga	p.G328R	CASP8_uc002uxq.1_Missense_Mutation_p.G313R|CASP8_uc002uxp.1_Missense_Mutation_p.G345R|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Missense_Mutation_p.G387R|CASP8_uc002uxw.1_Missense_Mutation_p.G313R|CASP8_uc010ftf.2_Missense_Mutation_p.G244R	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	328					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TGGCACTGATGGACAGGAGGC	0.468000										HNSCC(4;0.00038)				227			93		0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76355016	76355016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:76355016G>A	uc001dhd.2	+	15	2303	c.2188G>A	c.(2188-2190)Gaa>Aaa	p.E730K		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	730					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TGATGATATCGAAACAAATTC	0.289000								Mismatch excision repair (MMR)						103			35		0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134993770	134993770	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:134993770G>A	uc004ezh.3	+	17	2346	c.2179G>A	c.(2179-2181)Gag>Aag	p.E727K	SAGE1_uc010nry.1_Missense_Mutation_p.E696K|SAGE1_uc011mvv.2_Missense_Mutation_p.E351K	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	727								p.E727*(2)		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)					CCAGGAGGAGGAGATGGAAAA	0.428000														88			64		0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78325774	78325774	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:78325774C>T	uc003kfs.3	-	10	1773	c.1767G>A	c.(1765-1767)ggG>ggA	p.G589G	DMGDH_uc011cte.1_Silent_p.G439G|DMGDH_uc011ctf.1_Silent_p.G388G|DMGDH_uc011ctg.1_Silent_p.G209G	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	589					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AAAGAAACTCCCCAGGAGATT	0.363000														35			17		0	0	1	0	0
OR10G3	26533	broad.mit.edu	37	14	22038384	22038384	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:22038384G>A	uc010tmb.2	-	0	492	c.492C>T	c.(490-492)acC>acT	p.T164T		NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GCAGGCGGAAGGTTAGGATGG	0.577000														138			46		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411285	126411285	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:126411285G>A	uc003ifj.4	+	16	13308	c.13308G>A	c.(13306-13308)caG>caA	p.Q4436Q	FAT4_uc011cgp.2_Silent_p.Q2677Q|FAT4_uc003ifi.1_Silent_p.Q1913Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4436	EGF-like 6.				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						ACCCGTGCCAGAATGGTGGCA	0.602000														77			44		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29543705	29543705	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:29543705G>A	uc002rmy.3	-	6	2410	c.1458C>T	c.(1456-1458)ttC>ttT	p.F486F		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	486	MAM 2.				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)	TCCAGCCACAGAAGCCATCTT	0.522000			"""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					159			59		0	0	1	0	0
TRIM11	81559	broad.mit.edu	37	1	228582482	228582482	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:228582482G>A	uc001hss.3	-	5	1586	c.1331C>T	c.(1330-1332)cCc>cTc	p.P444L	TRIM11_uc010pvx.2_Missense_Mutation_p.P443L	NM_145214	NP_660215	Q96F44	TRI11_HUMAN	Homo sapiens tripartite motif containing 11 (TRIM11), mRNA.	444	B30.2/SPRY.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GCTGGACAGGGGTGAGAAGAG	0.637000														65			33		0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116548887	116548887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:116548887C>T	uc002tle.3	+	18	1688	c.1667C>T	c.(1666-1668)cCc>cTc	p.P556L	DPP10_uc002tla.2_Missense_Mutation_p.P552L|DPP10_uc002tlb.2_Missense_Mutation_p.P502L|DPP10_uc002tlc.2_Missense_Mutation_p.P548L|DPP10_uc002tlf.2_Missense_Mutation_p.P545L	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	552					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTGTCCCTTCCCAAAGATTTT	0.289000														150			51		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123515010	123515010	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:123515010G>A	uc010nqy.3	-	31	7639	c.7575C>T	c.(7573-7575)gtC>gtT	p.V2525V	ODZ1_uc011muj.2_Silent_p.V2524V|ODZ1_uc004euj.3_Silent_p.V2518V	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2518					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.V2520V(1)		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						AAACAGAAGGGACAGCAGCAA	0.458000														60			31		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065098	9065098	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9065098T>C	uc002mkp.3	-	2	22552	c.22348A>G	c.(22348-22350)Agt>Ggt	p.S7450G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7452	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						CTGCTCAAACTTGGAGGTGAA	0.483000														110			37		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189612176	189612176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:189612176G>A	uc003fry.2	+	13	2017	c.1928G>A	c.(1927-1929)cGa>cAa	p.R643Q	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Missense_Mutation_p.R549Q|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Missense_Mutation_p.R464Q	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	643	Transactivation inhibition.				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			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)		GATGCTGTGCGATTCACCCTC	0.552000										HNSCC(45;0.13)				80			39		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48898789	48898790	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:48898789_48898790GG>AA	uc002rwp.2	+	9	3525_3526	c.3411_3412GG>AA	c.(3409-3414)acggat>acAAat	p.D1138N	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.D1138N|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.D1091N|STON1-GTF2A1L_uc002rws.2_Missense_Mutation_p.D434N|STON1-GTF2A1L_uc010yom.2_Missense_Mutation_p.D400N	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	1091					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.T1137M(1)		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)			TGTTTGACACGGATAATGTTAT	0.351000														128			28		0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47542846	47542846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:47542846G>A	uc002zia.1	+	20	1748	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K	COL6A2_uc002zhz.1_Missense_Mutation_p.E556K|COL6A2_uc002zhy.1_Missense_Mutation_p.E556K	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	556	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	p.E556E(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGAGAAAGGAGAGCCTGTGAG	0.602000														86			30		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108264161	108264161	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:108264161C>T	uc003ymn.3	-	8	1887	c.1419G>A	c.(1417-1419)ggG>ggA	p.G473G	ANGPT1_uc011lhv.2_Silent_p.G273G|ANGPT1_uc003ymo.3_Silent_p.G472G	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	473	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)			GCCACTTTATCCCATTCAGTT	0.408000														84			37		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227967554	227967554	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:227967554C>T	uc021vxr.1	-	13	982	c.881G>A	c.(880-882)gGt>gAt	p.G294D	COL4A4_uc021vxs.1_Missense_Mutation_p.G294D	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	294	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)		TGCCCCAATACCAGATTCTCC	0.383000														143			45		0	0	1	0	0
HTR3D	200909	broad.mit.edu	37	3	183755963	183755963	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:183755963G>A	uc011bqv.2	+	5	815	c.815G>A	c.(814-816)aGc>aAc	p.S272N	HTR3D_uc003fmj.3_Missense_Mutation_p.S99N|HTR3D_uc011bqu.2_Missense_Mutation_p.S224N|HTR3D_uc010hxp.3_Missense_Mutation_p.S53N	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3 family member D (HTR3D), transcript variant 3, mRNA.	272						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTGGGCTACAGCGTCTTCCTG	0.507000														93			62		0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144843240	144843240	+	Missense_Mutation	SNP	C	T	T	rs144099534		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:144843240C>T	uc003qkt.3	+	38	5758	c.5666C>T	c.(5665-5667)tCg>tTg	p.S1889L		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	1889					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)		GTTGAATTATCGCTTAATGTT	0.393000														64			46		0	0	1	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18637314	18637314	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:18637314G>A	uc001moy.3	-	2	723	c.507C>T	c.(505-507)ttC>ttT	p.F169F	SPTY2D1_uc010rdi.1_Silent_p.F169F	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA.	169										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GTAAATCAGTGAAGTTCATGG	0.468000														181			34		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57731026	57731026	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:57731026C>T	uc010bfw.3	+	2	1022	c.829C>T	c.(829-831)Ccc>Tcc	p.P277S	CGNL1_uc002aeg.3_Missense_Mutation_p.P277S	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	277	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)		AGATGTTCTTCCCTTCCGGCG	0.612000														60			30		0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37453547	37453547	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:37453547G>A	uc001uvw.3	-	1	623	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	SMAD9_uc001uvx.3_Missense_Mutation_p.R94C|SMAD9_uc010tep.2_5'UTR	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.	94	MH1.				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)		CGCCACACGCGACAGTAAATC	0.627000														54			23		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22749605	22749605	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:22749605C>T	uc021wml.1	+	56		c.6289C>T								Parts of antibodies, mostly variable regions.																		CCTGTGCTTCCAGCACTGGAG	0.507000														43			35		0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72539092	72539092	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:72539092G>A	uc002jky.1	-	2	796	c.435C>T	c.(433-435)tcC>tcT	p.S145S		NM_006678	NP_006669	Q08708	CLM6_HUMAN	Homo sapiens CD300c molecule (CD300C), mRNA.	145	Pro-rich.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						AGGTGCCCATGGAGCTCTGGG	0.622000														120			47		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993536	140993536	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:140993536C>T	uc004fbt.3	+	3	670	c.346C>T	c.(346-348)Cag>Tag	p.Q116*	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	116							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)					AGAGATTTCTCAGAGCCCTCC	0.532000										HNSCC(15;0.026)				98			80		0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	107823029	107823029	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:107823029G>A	uc001vql.3	-	2	1709	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	398						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCTGTGACAGGAGCCACTTTT	0.448000														25			56		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42340052	42340052	+	Missense_Mutation	SNP	C	T	T	rs56366151		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:42340052C>T	uc002igf.4	-	2	207	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	SLC4A1_uc021tyc.1_Missense_Mutation_p.E20K	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	20					bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCTTCATATTCCTCCTGCTCC	0.597000														52			16		0	0	1	0	0
LRRC31	79782	broad.mit.edu	37	3	169574611	169574611	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:169574611C>A	uc003fgc.1	-	3	602	c.537G>T	c.(535-537)tgG>tgT	p.W179C	LRRC31_uc010hwp.1_Missense_Mutation_p.W123C	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	179										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)			CTTTACTGTTCCAAGACAAAT	0.423000														112			86		7.49063e-41	7.60164e-41	1	1	0
PHACTR3	116154	broad.mit.edu	37	20	58381164	58381164	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:58381164G>A	uc002yau.3	+	7	1710	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	PHACTR3_uc002yat.3_Missense_Mutation_p.E412K|PHACTR3_uc010zzw.2_Missense_Mutation_p.E374K|PHACTR3_uc002yav.3_Missense_Mutation_p.E374K|PHACTR3_uc002yaw.3_Missense_Mutation_p.E374K|PHACTR3_uc002yax.3_Missense_Mutation_p.E304K	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	415						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AAGCAAACAGGAACTAGAAGA	0.517000														261			96		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43749146	43749146	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:43749146C>T	uc001zrs.3	-	11	1793	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	TP53BP1_uc010udp.2_Missense_Mutation_p.E549K|TP53BP1_uc001zrq.4_Missense_Mutation_p.E554K|TP53BP1_uc001zrr.4_Missense_Mutation_p.E554K|TP53BP1_uc010udq.1_Missense_Mutation_p.E554K	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	549					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GACATGGGTTCCGTATCCTCA	0.408000								Other conserved DNA damage response genes						84			38		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488581	108488581	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:108488581G>A	uc010ywk.2	+	19	4203	c.4121G>A	c.(4120-4122)tGg>tAg	p.W1374*	RGPD4_uc002tdu.3_Nonsense_Mutation_p.W561*|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1374	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTTGGTCAATGGAAAGAAAGG	0.353000														187			77		0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47531470	47531470	+	Missense_Mutation	SNP	C	T	T	rs150057026		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:47531470C>T	uc002zia.1	+	1	162	c.80C>T	c.(79-81)tCg>tTg	p.S27L	COL6A2_uc002zhz.1_Missense_Mutation_p.S27L|COL6A2_uc002zhy.1_Missense_Mutation_p.S27L	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	27	Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GAGGTCATCTCGCCGGACACT	0.667000														91			39		0	0	1	0	0
RHOU	58480	broad.mit.edu	37	1	228871726	228871726	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:228871726C>T	uc001htf.3	+	0	903	c.237C>T	c.(235-237)atC>atT	p.I79I	RHOU_uc021pkj.1_Intron	NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN	Homo sapiens ras homolog gene family, member U (RHOU), transcript variant 1, mRNA.	79					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)				CCGAGTACATCCCTACTGCCT	0.716000														48			28		0	0	1	0	0
ALX4	60529	broad.mit.edu	37	11	44297126	44297126	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:44297126C>T	uc001myb.3	-	1	653	c.549G>A	c.(547-549)aaG>aaA	p.K183K		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	Homo sapiens ALX homeobox 4 (ALX4), mRNA.	183					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CCCCAGCCTCCTTGACACTCA	0.617000														132			38		0	0	1	0	0
IFIT1B	439996	broad.mit.edu	37	10	91143253	91143253	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:91143253G>A	uc001kgh.3	+	1	263	c.183G>A	c.(181-183)gtG>gtA	p.V61V	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 1B (IFIT1B), mRNA.	61							binding			endometrium(2)|large_intestine(3)|lung(8)	13						TAGCCTATGTGAAACACCTGA	0.428000														58			49		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262042	45262042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:45262042C>T	uc003jok.3	-	7	2679	c.2654G>A	c.(2653-2655)cGa>cAa	p.R885Q		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	885						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						TGAAGCAAATCGTGGCTTTTC	0.448000														231			78		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115221019	115221019	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:115221019C>T	uc001efe.2	-	7	1174	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	AMPD1_uc001eff.2_Missense_Mutation_p.E372K	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	343	Substrate binding (By similarity).				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.N376N(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)	GCAAAAAGTTCCTTTAGGGTC	0.378000														146			104		0	0	1	0	0
TMEM159	57146	broad.mit.edu	37	16	21172581	21172581	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:21172581C>T	uc010vbf.2	+	1	332	c.78C>T	c.(76-78)tcC>tcT	p.S26S	DNAH3_uc010vbe.2_5'Flank|TMEM159_uc002dih.4_Silent_p.S26S|TMEM159_uc002dif.4_Silent_p.S26S|TMEM159_uc002dig.4_Non-coding_Transcript	NM_020422	NP_065155	Q96B96	TM159_HUMAN	Homo sapiens transmembrane protein 159 (TMEM159), mRNA.	26						integral to membrane				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		TGATAGACTCCTTCCAGAATA	0.398000														76			11		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123451911	123451911	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:123451911C>T	uc003ego.3	-	10	1630	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	MYLK_uc011bjw.2_Missense_Mutation_p.E450K|MYLK_uc003egp.3_Intron|MYLK_uc003egq.3_Missense_Mutation_p.E450K|MYLK_uc003egr.3_Intron|MYLK_uc003egs.3_Missense_Mutation_p.E274K	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	450	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)		GGGGTGCCTTCCAGGAACCAG	0.572000														34			20		0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8474411	8474411	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:8474411C>T	uc001mgi.1	-	6	1748	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	STK33_uc001mgj.1_Missense_Mutation_p.E277K|STK33_uc001mgk.1_Missense_Mutation_p.E277K|STK33_uc010rbn.1_Missense_Mutation_p.E236K|STK33_uc001mgl.3_Missense_Mutation_p.E90K|STK33_uc009yfp.3_5'UTR	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	277	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		AGCATGGCTTCACTCCTACTT	0.438000														138			73		0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66911703	66911703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:66911703G>A	uc001stk.3	-	5	797	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C	GRIP1_uc010sta.1_Missense_Mutation_p.R130C|GRIP1_uc001stm.3_Missense_Mutation_p.R186C|GRIP1_uc001stl.1_Missense_Mutation_p.R130C	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	186	PDZ 2.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CCTCCAGGACGAACACATGTT	0.383000														35			21		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198701611	198701611	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:198701611G>A	uc001gur.1	+	19	2242	c.2062G>A	c.(2062-2064)Gat>Aat	p.D688N	PTPRC_uc001gut.1_Missense_Mutation_p.D527N|PTPRC_uc009wzf.1_Missense_Mutation_p.D576N|PTPRC_uc021pgy.1_Missense_Mutation_p.D642N|PTPRC_uc010ppg.1_Missense_Mutation_p.D624N	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	688	Tyrosine-protein phosphatase 1.				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						TTAAACAGATGATTATAACCG	0.318000														10			4		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50765676	50765676	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:50765676C>T	uc002egm.1	+	11	3174	c.3069C>T	c.(3067-3069)ttC>ttT	p.F1023F	NOD2_uc010vgq.1_Silent_p.F68F	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	1023					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)				GGAACACTTTCTCTCTAGAGG	0.478000														54			25		0	0	1	0	0
EIF4E2	9470	broad.mit.edu	37	2	233431625	233431625	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:233431625C>T	uc002vta.3	+	4	540	c.462C>T	c.(460-462)gcC>gcT	p.A154A	EIF4E2_uc002vtb.1_Silent_p.A154A|EIF4E2_uc010zmi.1_Silent_p.A109A	NM_004846	NP_004837	O60573	IF4E2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E family member 2 (EIF4E2), mRNA.	154	EIF4EBP1/2/3 binding.				regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		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;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCATTTTGGCCATGCTGGGGG	0.527000														96			28		0	0	1	0	0
PDZD7	79955	broad.mit.edu	37	10	102781561	102781561	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:102781561G>A	uc001ksn.3	-	5	1111	c.861C>T	c.(859-861)acC>acT	p.T287T	PDZD7_uc021pxc.1_Silent_p.T287T|PDZD7_uc001kso.2_Silent_p.T287T	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 2, mRNA.	287	PDZ 2.					cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCACCTTGATGGTCAGCATGA	0.567000														159			137		0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36179135	36179135	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:36179135C>T	uc003olv.4	+	6	2504	c.2280C>T	c.(2278-2280)tcC>tcT	p.S760S	BRPF3_uc010jwb.3_Intron|BRPF3_uc011dtj.2_Intron|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Intron	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	760					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCATGCGGTCCAGTGGGGCCC	0.632000														66			20		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130293024	130293024	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:130293024G>A	uc010htl.3	+	6	3233	c.3202G>A	c.(3202-3204)Gaa>Aaa	p.E1068K		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1068	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATTTCAGATTGAAAACATCAA	0.468000														54			55		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79252384	79252384	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:79252384C>T	uc010mpk.3	-	13	9037	c.8913G>A	c.(8911-8913)agG>agA	p.R2971R	PRUNE2_uc011lsk.2_Silent_p.R220R|PRUNE2_uc011lsl.2_Silent_p.R235R|PRUNE2_uc011lsm.2_Silent_p.R236R|PRUNE2_uc004akj.4_Silent_p.R425R|PRUNE2_uc022big.1_Non-coding_Transcript	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2971	CRAL-TRIO.				G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCCCTGGCATCCTCCTTCTTG	0.398000														134			57		0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38323469	38323469	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:38323469C>T	uc003aui.3	+	8	1792	c.1517C>T	c.(1516-1518)tCg>tTg	p.S506L		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	506	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GCCACACCATCGCCAGCGCTC	0.677000														53			19		0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7984078	7984078	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:7984078C>T	uc002gjy.1	-	4	809	c.548G>A	c.(547-549)gGa>gAa	p.G183E	BC046191_uc010cnq.2_Non-coding_Transcript	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	183	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AATTGGGAATCCCGGAATATA	0.602000										Multiple Myeloma(8;0.094)	OREG0024153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		113			69		0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39706162	39706162	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:39706162G>C	uc001wux.3	+	1	346	c.152G>C	c.(151-153)aGa>aCa	p.R51T	MIA2_uc010amy.2_5'UTR	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	51	SH3.					extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		AGAGATTATAGAGGACCTGAC	0.358000														34			17		0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145659461	145659461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:145659461G>A	uc011llg.2	-	20	3302	c.3287C>T	c.(3286-3288)aCc>aTc	p.T1096I	AK298596_uc011llh.1_5'Flank	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	Homo sapiens tonsoku-like, DNA repair protein (TONSL), mRNA.	1096					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GCTGGGCATGGTGCCCAGGGC	0.687000														47			13		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21960358	21960358	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:21960358A>T	uc001rfh.3	-	35	4391	c.4371T>A	c.(4369-4371)ttT>ttA	p.F1457L	ABCC9_uc001rfi.1_Missense_Mutation_p.F1457L	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1457	ABC transporter 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)	TGGCAAGGCAAAATAGCTGTC	0.438000														55			16		0	0	1	0	0
INHBC	3626	broad.mit.edu	37	12	57843707	57843707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:57843707G>A	uc001snv.1	+	1	1088	c.961G>A	c.(961-963)Gcc>Acc	p.A321T		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	321					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						TGTACCCACGGCCCGGCGCCC	0.562000														114			42		0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158369079	158369079	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:158369079T>C	uc010pih.2	-	0	178	c.178A>G	c.(178-180)Atg>Gtg	p.M60V		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	60					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)					AAGCCATACATGGGAGTGTGG	0.473000														43			5		0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62501818	62501819	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:62501818_62501819CC>TT	uc003dll.2	-	15	2856_2857	c.2496_2497GG>AA	c.(2494-2499)gaggag>gaAAag	p.E833K	CADPS_uc003dlk.1_Missense_Mutation_p.E337K|CADPS_uc003dlm.2_Missense_Mutation_p.E833K|CADPS_uc003dln.2_Missense_Mutation_p.E816K|CADPS_uc021wzv.1_Missense_Mutation_p.E886K	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	833	Interaction with DRD2.				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)		GTTTTTACCTCCTCTTGTGGCA	0.421000														84			24		0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90746110	90746110	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:90746110C>T	uc011lti.2	-	3	1871	c.1842G>A	c.(1840-1842)gtG>gtA	p.V614V		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	614																	TGCTGGTTTTCACGTGGGTGT	0.572000														327			122		0	0	1	0	0
C4orf40	401137	broad.mit.edu	37	4	71024317	71024317	+	Silent	SNP	G	A	A	rs148239542		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:71024317G>A	uc003hfa.4	+	3	421	c.348G>A	c.(346-348)agG>agA	p.R116R	C4orf40_uc003hfb.4_Silent_p.R116R	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.	116						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTCCTTCAAGGTTTTTTTCAG	0.547000														230			119		0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56019945	56019945	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:56019945T>A	uc010rjd.2	+	0	270	c.270T>A	c.(268-270)taT>taA	p.Y90*		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ACCCCATGTATTATTTTCTTA	0.348000														38			26		0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1920067	1920067	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:1920067C>T	uc003gdz.4	+	4	1303	c.1127C>T	c.(1126-1128)tCc>tTc	p.S376F	WHSC1_uc003geb.4_Missense_Mutation_p.S376F|WHSC1_uc003gec.4_Missense_Mutation_p.S376F|WHSC1_uc003ged.4_Missense_Mutation_p.S376F|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gdx.3_Missense_Mutation_p.S376F|WHSC1_uc003gdy.1_Missense_Mutation_p.S376F|WHSC1_uc010icd.1_Missense_Mutation_p.S376F|WHSC1_uc003gea.1_Missense_Mutation_p.S376F|WHSC1_uc010ice.1_Missense_Mutation_p.S376F|WHSC1_uc003geh.1_Missense_Mutation_p.S376F	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	376					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.S376Y(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		ATGGCAGAATCCTCAGGAGTC	0.512000			T	IGH@	MM									81			26		0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123847420	123847420	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:123847420C>T	uc001pzm.1	-	0	979	c.979G>A	c.(979-981)Ggc>Agc	p.G327S		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	327					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A326S(1)|p.A326E(1)		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)		GGTGGGCTGCCTGCTGTAGAC	0.463000														48			23		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110499029	110499029	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:110499029G>A	uc003yne.3	+	58	9963	c.9859G>A	c.(9859-9861)Gaa>Aaa	p.E3287K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3287					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)			CTCATTCACTGAAAATATGAT	0.368000										HNSCC(38;0.096)				53			10		0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36990057	36990057	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:36990057C>T	uc010jwp.1	+	12	1540	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	FGD2_uc003ong.2_Missense_Mutation_p.R179W|FGD2_uc011dtv.1_Missense_Mutation_p.R85W|FGD2_uc003onj.1_Missense_Mutation_p.R34W	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	457					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GCAGTGGGTCCGGGACAAGAT	0.652000											OREG0017395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			8		0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587468	42587468	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:42587468C>T	uc003xpi.1	+	4	1146	c.1018C>T	c.(1018-1020)Ctg>Ttg	p.L340L		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	340					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)			GAGGCTCTTTCTGCAGAAACT	0.468000														230			38		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170912325	170912325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:170912325C>T	uc003fhh.2	-	4	751	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	TNIK_uc003fhi.2_Missense_Mutation_p.E136K|TNIK_uc003fhj.2_Missense_Mutation_p.E136K|TNIK_uc003fhk.2_Missense_Mutation_p.E136K|TNIK_uc003fhl.2_Missense_Mutation_p.E136K|TNIK_uc003fhm.2_Missense_Mutation_p.E136K|TNIK_uc003fhn.2_Missense_Mutation_p.E136K|TNIK_uc003fho.2_Missense_Mutation_p.E136K	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	136	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)			CGTAAGATTTCCCTGCAGATG	0.458000														188			47		0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61498783	61498783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:61498783C>T	uc002jal.4	+	24	5463	c.5440C>T	c.(5440-5442)Cct>Tct	p.P1814S	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.P925S	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1814							binding	p.S1814S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CCCACTGAAACCTGCATATGA	0.537000														46			27		0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779105	31779105	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:31779105A>T	uc003nxh.3	-	1	828	c.645T>A	c.(643-645)gaT>gaA	p.D215E	HSPA1L_uc010jte.3_Missense_Mutation_p.D215E|HSPA1L_uc021yuz.1_Missense_Mutation_p.D215E	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	215					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AAATCCCATCATCTATGGTCA	0.483000														497			240		0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20169255	20169255	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:20169255G>A	uc002rdi.3	-	8	1102	c.994C>T	c.(994-996)Cga>Tga	p.R332*	WDR35_uc002rdj.3_Nonsense_Mutation_p.R332*|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_5'UTR	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA.	332										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAATTAGGTCGAATGTTTGCA	0.318000														32			17		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232561465	232561465	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:232561465G>A	uc001hvg.3	-	15	4658	c.4500C>T	c.(4498-4500)tcC>tcT	p.S1500S	SIPA1L2_uc001hvf.3_Silent_p.S574S	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1500					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AACTGCCAAAGGAGGACCCCC	0.597000														78			18		0	0	1	0	0
SP110	3431	broad.mit.edu	37	2	231090444	231090444	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:231090444C>T	uc021vxx.1	-	1	1	c.-257_splice	c.e1-1		SP140_uc010zma.1_5'Flank|SP140_uc002vqj.3_5'Flank|SP140_uc002vqk.2_5'Flank|SP140_uc002vql.3_5'Flank|SP140_uc002vqn.3_5'Flank|SP140_uc002vqm.3_5'Flank|SP140_uc010fxl.3_5'Flank	NM_001185015	NP_001171944	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant d, mRNA.						interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TAGGCAATTTCACTTTTCTTT	0.542000														9			3		0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47121027	47121028	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:47121027_47121028CC>TT	uc001wwg.3	-	1	1	c.-88_splice	c.e1-1			NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.						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						TGCCCCTCGTCCCTCGCGGGAA	0.589000														18			8		0	0	1	0	0
GLMN	11146	broad.mit.edu	37	1	92755792	92755792	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:92755792G>A	uc001dor.3	-	4	472	c.357C>T	c.(355-357)tcC>tcT	p.S119S	GLMN_uc009wdg.3_Non-coding_Transcript|GLMN_uc001dos.3_Silent_p.S119S	NM_053274	NP_444504	Q92990	GLMN_HUMAN	Homo sapiens glomulin, FKBP associated protein (GLMN), mRNA.	119					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		GAATACTTTGGGATATCTGTT	0.343000									Multiple Glomus Tumors (of the Skin), Familial					88			86		0	0	1	0	0
ADAM11	4185	broad.mit.edu	37	17	42849670	42849670	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:42849670C>T	uc002ihh.3	+	6	579	c.579C>T	c.(577-579)ctC>ctT	p.L193L	ADAM11_uc010wjd.2_5'UTR	NM_002390	NP_002381	O75078	ADA11_HUMAN	Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA.	193					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GGACCCCTCTCCTCCCAGATC	0.672000														26			7		0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158254081	158254081	+	Silent	SNP	G	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:158254081G>C	uc003ipm.4	+	6	1452	c.993G>C	c.(991-993)ctG>ctC	p.L331L	GRIA2_uc011cit.2_Silent_p.L284L|GRIA2_uc003ipl.4_Silent_p.L331L|GRIA2_uc003ipk.4_Silent_p.L284L|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	331					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GAGACTGTCTGGCAAACCCAG	0.478000														41			8		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77300459	77300459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:77300459C>T	uc003hkb.4	-	7	1166	c.1013G>A	c.(1012-1014)aGg>aAg	p.R338K	CCDC158_uc003hkd.3_Missense_Mutation_p.R338K	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	338								p.R338R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTCATACATCCTTTTGGCTTC	0.353000														72			13		0	0	1	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69424823	69424823	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:69424823C>T	uc004dxx.1	+	6	978	c.881C>T	c.(880-882)cCc>cTc	p.P294L		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	294					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						CTTCCAATTCCCAGGATTAAG	0.468000														22			16		0	0	1	0	0
SNRNP35	11066	broad.mit.edu	37	12	123950372	123950372	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:123950372C>T	uc021rfv.1	+	1	350	c.300C>T	c.(298-300)gcC>gcT	p.A100A	SNRNP35_uc001ufb.1_Silent_p.A95A|SNRNP35_uc001ufc.1_Intron|SNRNP35_uc021rfw.1_Silent_p.A95A	NM_180699	NP_073208	Q16560	U1SBP_HUMAN	Homo sapiens small nuclear ribonucleoprotein 35kDa (U11/U12) (SNRNP35), transcript variant 3, mRNA.	95	RRM.				mRNA processing	U12-type spliceosomal complex	RNA binding|nucleotide binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						AGGGCTACGCCTTCATCGAAT	0.512000														93			49		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364321	22364321	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:22364321C>T	uc002nqs.1	-	2	516	c.198G>A	c.(196-198)atG>atA	p.M66I		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M66I(2)|p.M66fs*1(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCTCAATATCATTTTTTGGA	0.303000														46			12		0	0	1	0	0
PORCN	64840	broad.mit.edu	37	X	48372729	48372729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:48372729C>T	uc010nie.1	+	8	979	c.821C>T	c.(820-822)aCc>aTc	p.T274I	PORCN_uc004djr.1_Missense_Mutation_p.T269I|PORCN_uc004djs.1_Missense_Mutation_p.T263I|PORCN_uc011mlx.1_Missense_Mutation_p.T192I|PORCN_uc004dju.1_Missense_Mutation_p.T132I|PORCN_uc004djv.1_Missense_Mutation_p.T274I|PORCN_uc004djw.1_Missense_Mutation_p.T268I	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.	274					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCTGGCTTTACCGAGGAGAAG	0.632000														45			21		0	0	1	0	0
ADRA2B	151	broad.mit.edu	37	2	96781134	96781134	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:96781134G>A	uc021vlh.1	-	0	755	c.755C>T	c.(754-756)tCc>tTc	p.S252F		NM_000682	NP_000673	P18089	ADA2B_HUMAN	Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	252					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)	CTCCCCAGTGGACTTCGAGTG	0.647000														40			15		0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47650193	47650193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:47650193C>T	uc010jzj.1	+	5	1899	c.1898C>T	c.(1897-1899)gCc>gTc	p.A633V	GPR111_uc003oyy.3_Missense_Mutation_p.A565V	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	633					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						CAGCGAGCTGCCATTGGCAAT	0.522000														34			12		0	0	1	0	0
IFNA7	3444	broad.mit.edu	37	9	21201635	21201635	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:21201635A>G	uc003zop.1	-	0	570	c.530T>C	c.(529-531)tTt>tCt	p.F177S	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	Homo sapiens interferon, alpha 7 (IFNA7), mRNA.	177					blood coagulation|cell-cell signaling|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.S176C(1)		endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GTTTGTTGAAAAAGAGAAGGA	0.373000														222			65		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262603	45262603	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:45262603G>A	uc003jok.3	-	7	2118	c.2093C>T	c.(2092-2094)tCc>tTc	p.S698F		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	698						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						GGTGGTGTAGGAGCAGGGTGA	0.637000														51			22		0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301955	11301956	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:11301955_11301956GG>AA	uc010hdr.3	+	1	1574_1575	c.1232_1233GG>AA	c.(1231-1233)agg>aAA	p.R411K	HRH1_uc010hds.3_Missense_Mutation_p.R411K|HRH1_uc010hdt.3_Missense_Mutation_p.R411K|HRH1_uc003bwb.4_Missense_Mutation_p.R411K|HRH1_uc021wtb.1_Missense_Mutation_p.R411K	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	411					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)	AACCGCGAAAGGAAGGCCGCCA	0.475000														196			151		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091180	74091181	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:74091180_74091181GG>AA	uc021ulp.1	-	3	3207_3208	c.2889_2890CC>TT	c.(2887-2892)gccccc>gcTTcc	p.P964S	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	964					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)		TTATTTGTGGGGGCAAAGCCAG	0.658000														65			35		0	0	1	0	0
CEP70	80321	broad.mit.edu	37	3	138251366	138251366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:138251366G>A	uc003esl.3	-	7	880	c.682C>T	c.(682-684)Cat>Tat	p.H228Y	CEP70_uc011bmk.2_Missense_Mutation_p.H208Y|CEP70_uc011bml.2_Missense_Mutation_p.H210Y|CEP70_uc011bmm.2_Missense_Mutation_p.H76Y|CEP70_uc003esm.3_Missense_Mutation_p.H228Y	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	228					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						CTTTGTGTATGAATTTTTCTA	0.284000														181			102		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123838900	123838900	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:123838900G>A	uc010nqy.3	-	4	1042	c.978C>T	c.(976-978)atC>atT	p.I326I	ODZ1_uc011muj.2_Silent_p.I326I|ODZ1_uc004euj.3_Silent_p.I326I	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	326					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						AAGTCACTGTGATTGCAGTGG	0.463000														75			51		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14952406	14952406	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:14952406G>A	uc003bzc.3	+	10	3485	c.3375G>A	c.(3373-3375)ggG>ggA	p.G1125G	FGD5_uc011avk.2_Silent_p.G1125G|FGD5_uc003bzd.3_Silent_p.G203G	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), 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			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AAGTAACAGGGAAAAACAGAC	0.542000														30			18		0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32926166	32926166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:32926166C>T	uc001zgy.1	+	9	1990	c.1268C>T	c.(1267-1269)cCt>cTt	p.P423L	ARHGAP11A_uc010ubw.1_Missense_Mutation_p.P234L|ARHGAP11A_uc001zgw.3_Missense_Mutation_p.P423L|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.P234L	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA.	423					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TGCTTTTCTCCTAAAATCAGC	0.338000														26			6		0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123494574	123494574	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:123494574C>T	uc001uej.1	-	4	665	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	PITPNM2_uc001uek.1_Missense_Mutation_p.E156K|PITPNM2_uc009zxu.1_Missense_Mutation_p.E156K	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	156					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GGGTCCTCTTCTGTCTTATAC	0.552000														155			65		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23509152	23509152	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:23509152G>A	uc003jgo.3	+	1	192	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	4					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CATGAGCCCTGAAAAGTCCCA	0.572000										HNSCC(3;0.000094)				59			16		0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23932165	23932166	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:23932165_23932166GG>AA	uc001ywk.3	-	0	285_286	c.199_200CC>TT	c.(199-201)ccg>TTg	p.P67L		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	67					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CAGGGCCTTCGGGTCGCCCTCG	0.802000									Prader-Willi syndrome					6			3		0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62362077	62362077	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:62362077G>A	uc001ntq.2	-	15	1993	c.1603C>T	c.(1603-1605)Cct>Tct	p.P535S	TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Missense_Mutation_p.P362S	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	535					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GTACCCCGAGGTGTTTTTGGT	0.512000														44			40		0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74659504	74659504	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:74659504G>A	uc002lmi.3	+	26	5002	c.4804G>A	c.(4804-4806)Gat>Aat	p.D1602N	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1602					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GCTCCTCACGGATCCCTCTCT	0.478000														70			72		0	0	1	0	0
TCTN1	79600	broad.mit.edu	37	12	111066571	111066571	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:111066571G>A	uc001trn.4	+	4	629	c.473_splice	c.e4-1	p.Y158_splice	TCTN1_uc010syb.2_Splice_Site_p.Y158_splice|TCTN1_uc010syc.2_Splice_Site|TCTN1_uc009zvs.3_Splice_Site_p.Y158_splice|TCTN1_uc001trm.3_Splice_Site_p.Y98_splice|TCTN1_uc001trp.4_Splice_Site_p.Y158_splice|TCTN1_uc001tri.3_Splice_Site_p.Y102_splice|TCTN1_uc001trj.2_Splice_Site_p.Y102_splice|TCTN1_uc001trk.4_Splice_Site|HVCN1_uc001trq.1_Intron	NM_001082538	NP_001076007	Q2MV58	TECT1_HUMAN	Homo sapiens tectonic family member 1 (TCTN1), transcript variant 1, mRNA.	158					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TTAAAAAACAGATAAACCTGC	0.264000														29			13		0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651601	8651601	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:8651601C>T	uc002mkj.1	-	19	2518	c.2244G>A	c.(2242-2244)ctG>ctA	p.L748L	ADAMTS10_uc002mki.1_Silent_p.L235L|ADAMTS10_uc002mkk.1_Silent_p.L380L	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	748	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGTCTCCCTTCAGGGCTGGGG	0.642000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		159			61		0	0	1	0	0
TPTEP1	387590	broad.mit.edu	37	22	17178790	17178790	+	RNA	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:17178790A>G	uc002zls.1	+	2		c.872A>G								Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA.																		ACCCACTTCTAGGAGATGCGC	0.627000														37			15		0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47182399	47182399	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:47182399T>C	uc001rpi.2	-	3	521	c.122A>G	c.(121-123)cAa>cGa	p.Q41R	SLC38A4_uc001rpj.2_Missense_Mutation_p.Q41R|SLC38A4_uc009zkl.2_Missense_Mutation_p.Q41R	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	41					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)					ATTAGCAAATTGACTGAACAC	0.353000														61			29		0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42340064	42340064	+	Silent	SNP	G	A	A	rs55786369		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:42340064G>A	uc002igf.4	-	2	195	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L	SLC4A1_uc021tyc.1_Silent_p.L16L	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	16					bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCCTGCTCCAGATTCTCCTCC	0.587000														55			18		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196876504	196876504	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:196876504C>T	uc001gtp.3	+	4	812	c.675C>T	c.(673-675)ttC>ttT	p.F225F	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Silent_p.F224F|CFH_uc001gto.3_Intron	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	582	Sushi 4.				complement activation, alternative pathway	extracellular space		p.I225S(1)|p.F224F(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CCACGTCCTTCCCGCAAAAAG	0.408000														42			36		0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160194147	160194147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:160194147C>T	uc002uao.3	-	31	5996	c.5591G>A	c.(5590-5592)cGg>cAg	p.R1864Q	BAZ2B_uc002uap.3_Missense_Mutation_p.R1828Q	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	1864					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTCACTCTTCCGTTCTAGTGC	0.428000														126			52		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809344	18809344	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:18809344C>T	uc001bax.3	+	0	1921	c.1869C>T	c.(1867-1869)ttC>ttT	p.F623F	KLHDC7A_uc009vpg.3_Silent_p.F405F	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	623						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)		GTGACACGTTCGCCCTGGCGC	0.667000														38			13		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256893	240256893	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:240256893G>A	uc010pye.2	+	0	1709	c.1484G>A	c.(1483-1485)cGg>cAg	p.R495Q	FMN2_uc010pyd.2_Missense_Mutation_p.R495Q	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	495					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)			CGCACGCCCCGGGTGGGAGGC	0.781000														12			11		0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15561499	15561499	+	Silent	SNP	G	A	A	rs148528170	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:15561499G>A	uc002yjm.3	-	1	361	c.351C>T	c.(349-351)ttC>ttT	p.F117F	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Silent_p.F96F|LIPI_uc021whh.1_Silent_p.F96F|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Silent_p.F96F|LIPI_uc021whe.1_Silent_p.F96F|LIPI_uc021whf.1_Silent_p.F96F	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	96					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.F117F(2)		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)		AAATCCTTACGAAGTTCTGAA	0.368000														77			31		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128320946	128320946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:128320946C>T	uc003kuy.3	+	2	998	c.602C>T	c.(601-603)cCt>cTt	p.P201L	SLC27A6_uc003kuz.3_Missense_Mutation_p.P201L	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	201					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGCACCTCACCTGATGAGCCC	0.433000														31			21		0	0	1	0	0
FAM86C2P	645332	broad.mit.edu	37	11	67564286	67564286	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:67564286T>A	uc001omt.4	-	2	201	c.178A>T	c.(178-180)Aag>Tag	p.K60*						Homo sapiens family with sequence similarity 86, member C2, pseudogene (FAM86C2P), non-coding RNA.																		CACGATGGCTTCTGGGCTATA	0.617000														18			16		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79054675	79054675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:79054675C>T	uc003kgc.3	+	6	11282	c.11210C>T	c.(11209-11211)tCa>tTa	p.S3737L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3737	Fibronectin type-III 1.					perinuclear region of cytoplasm		p.S3737*(2)		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)		GTCATTGATTCATTTCAGGTT	0.408000														59			31		0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234468559	234468559	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:234468559G>A	uc010zmr.2	-	2	315	c.315C>T	c.(313-315)atC>atT	p.I105I	USP40_uc010zmu.1_Silent_p.I93I	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	93					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		ACTGTAAAGGGATGATTCGAA	0.408000														14			7		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435933	158435933	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:158435933C>T	uc010pij.2	+	0	582	c.582C>T	c.(580-582)ttC>ttT	p.F194F		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ACTCCGGCTTCAGTCAGCTGG	0.478000														185			46		0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52943127	52943127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:52943127C>T	uc001sao.3	-	2	737	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	223	Coil 1B.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		TTGTTGATTTCCTCCTCATAC	0.572000														220			54		0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44881943	44881943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:44881943C>T	uc003cnx.4	+	27	3564	c.3415C>T	c.(3415-3417)Ccc>Tcc	p.P1139S	KIF15_uc010hiq.3_Missense_Mutation_p.P1042S|KIF15_uc010hir.3_Missense_Mutation_p.P187S	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	1139					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)		TGCTGAGGATCCCCAGGTACT	0.338000														91			72		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41719705	41719705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:41719705C>T	uc002yyq.1	-	5	1554	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	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.	368	Ig-like C2-type 4.				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	p.E368Q(2)		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)				ATAAGGTTTTCGTGGTTGATC	0.512000														286			76		0	0	1	0	0
ETNK1	55500	broad.mit.edu	37	12	22812064	22812064	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:22812064T>G	uc001rft.3	+	2	822	c.800T>G	c.(799-801)tTt>tGt	p.F267C	ETNK1_uc009ziz.3_Missense_Mutation_p.F267C	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN	Homo sapiens ethanolamine kinase 1 (ETNK1), transcript variant 1, mRNA.	267					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCCACAGGATTTGCAGATGAA	0.328000														51			10		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68968209	68968209	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:68968209G>A	uc003xxv.1	+	10	1265	c.1238_splice	c.e10+1	p.S413_splice	PREX2_uc003xxu.1_Splice_Site_p.S413_splice|PREX2_uc011lez.1_Splice_Site_p.S348_splice	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	413	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.S413N(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTTCTTGGAAGGTAGGGTTGG	0.373000														84			12		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198703337	198703337	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:198703337C>T	uc001gur.1	+	20	2329	c.2149C>T	c.(2149-2151)Ccc>Tcc	p.P717S	PTPRC_uc001gut.1_Missense_Mutation_p.P556S|PTPRC_uc021pgy.1_Missense_Mutation_p.P671S|PTPRC_uc010ppg.1_Missense_Mutation_p.P653S	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	717	Tyrosine-protein phosphatase 1.				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	p.P717P(2)		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						TTTCAAAGAACCCAGGAAATA	0.299000														29			8		0	0	1	0	0
KATNB1	10300	broad.mit.edu	37	16	57787413	57787413	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:57787413C>T	uc002eml.1	+	11	1533	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	Homo sapiens katanin p80 (WD repeat containing) subunit B 1 (KATNB1), mRNA.	387	Interaction with PAFAH1B1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				CGAGATCTTCCAGCCCAAGAA	0.677000														76			21		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38753898	38753898	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:38753898G>A	uc003ciq.3	-	21	3843	c.3843C>T	c.(3841-3843)atC>atT	p.I1281I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1281					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)	GGACATTCATGATGGATGGGA	0.552000														120			40		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100691290	100691290	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100691290G>A	uc003uxp.1	+	3	12482	c.12429G>A	c.(12427-12429)acG>acA	p.T4143T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4143	EGF-like.					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)					GCCAGAATACGGCCTCTCGCT	0.532000														134			51		0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128680672	128680672	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:128680672C>T	uc010sbu.2	+	8	1491	c.1148C>T	c.(1147-1149)tCt>tTt	p.S383F	FLI1_uc010sbt.2_Missense_Mutation_p.S190F|FLI1_uc010sbv.2_Missense_Mutation_p.S350F|FLI1_uc009zci.3_Missense_Mutation_p.S317F	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	383					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AAGTACCCTTCTGACATCTCC	0.517000			T	EWSR1	Ewing sarcoma									37			30		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404190	20404190	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:20404190G>A	uc001vwj.2	+	0	424	c.365G>A	c.(364-366)aGa>aAa	p.R122K		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122T(2)		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)		GCATATGACAGATTTATAGCC	0.443000														111			23		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227892716	227892716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:227892716C>T	uc021vxr.1	-	40	4084	c.3983G>A	c.(3982-3984)gGa>gAa	p.G1328E	COL4A4_uc021vxs.1_Missense_Mutation_p.G1328E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1328	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)		TCCCGGGAATCCCACTGGTCC	0.478000														17			7		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153594953	153594953	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:153594953G>A	uc004fkk.2	-	6	1291	c.1042C>T	c.(1042-1044)Ccc>Tcc	p.P348S	FLNA_uc010nuu.1_Missense_Mutation_p.P348S	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	348					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)					GTCACCTCGGGGACGTACCAG	0.632000														87			66		0	0	1	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19266161	19266161	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:19266161C>T	uc011kyn.2	-	8	2336	c.1272G>A	c.(1270-1272)ggG>ggA	p.G424G	CSGALNACT1_uc011kyo.2_Silent_p.G424G|CSGALNACT1_uc003wzg.3_Non-coding_Transcript|CSGALNACT1_uc011kyp.2_Silent_p.G424G	NM_001130518	NP_060841	Q8TDX6	CGAT1_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1), transcript variant 1, mRNA.	424					UDP-N-acetylgalactosamine metabolic process|UDP-glucuronate metabolic process|anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GACACGTCATCCCAAATCCAA	0.458000														124			20		0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77425473	77425473	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:77425473G>A	uc021sqy.1	-	6	4527	c.3951C>T	c.(3949-3951)ctC>ctT	p.L1317L		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1317	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										CTCCAAAACGGAGCTGGTCTT	0.468000														71			22		0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6942547	6942547	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:6942547G>A	uc010rav.2	+	0	315	c.315G>A	c.(313-315)agG>agA	p.R105R		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGGTAAAGAGGAAAACCATTT	0.418000														161			33		0	0	1	0	0
EIF3B	8662	broad.mit.edu	37	7	2409115	2409115	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:2409115C>T	uc003slx.3	+	9	1495	c.1412C>T	c.(1411-1413)tCt>tTt	p.S471F	EIF3B_uc003sly.3_Missense_Mutation_p.S471F|EIF3B_uc003sma.3_Missense_Mutation_p.S199F	NM_003751	NP_003742	P55884	EIF3B_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA.	471					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		AGAGACTTTTCTTGGTCTCCT	0.428000														346			155		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039616	36039616	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:36039616C>T	uc003jjz.2	-	4	1170	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	UGT3A2_uc011cos.2_Silent_p.V312V|UGT3A2_uc011cot.2_Silent_p.V44V	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	346						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACAATTTTCACATTTGCAG	0.532000														101			42		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7676432	7676432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:7676432C>T	uc002mgu.4	+	11	1335	c.1234C>T	c.(1234-1236)Cat>Tat	p.H412Y	CAMSAP3_uc002mgv.4_Missense_Mutation_p.H385Y	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	385					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						GTCCATGTCCCATATGGAGGC	0.657000														34			17		0	0	1	0	0
NFX1	4799	broad.mit.edu	37	9	33351567	33351567	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:33351567A>C	uc003zsr.3	+	15	2590	c.2437A>C	c.(2437-2439)Aac>Cac	p.N813H	NFX1_uc003zsp.2_Missense_Mutation_p.N812H|NFX1_uc010mjr.2_Missense_Mutation_p.N813H|NFX1_uc003zsq.3_Missense_Mutation_p.N812H	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	812					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)		GTTTCGGAGCAACATCCCCTG	0.468000														51			12		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189455563	189455563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:189455563G>A	uc003fry.2	+	1	186	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	TP63_uc003frx.2_Missense_Mutation_p.E33K|TP63_uc003frz.2_Missense_Mutation_p.E33K|TP63_uc010hzc.1_Missense_Mutation_p.E33K	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	33	Transcription activation.				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			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)		CTCTTGGAAAGAAAGTTATTA	0.358000										HNSCC(45;0.13)				72			58		0	0	1	0	0
MON1A	84315	broad.mit.edu	37	3	49949127	49949127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:49949127C>T	uc003cxz.3	-	2	862	c.736G>A	c.(736-738)Gag>Aag	p.E246K	MON1A_uc003cya.3_Intron|MON1A_uc003cyb.2_Intron	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	Homo sapiens MON1 homolog A (yeast) (MON1A), transcript variant 1, mRNA.	149							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CGCCATGCCTCCGTGGCATCC	0.622000														107			90		0	0	1	0	0
ENOX2	10495	broad.mit.edu	37	X	129813720	129813720	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:129813720G>A	uc004evw.3	-	6	761	c.343C>T	c.(343-345)Ctc>Ttc	p.L115F	ENOX2_uc004evx.3_Missense_Mutation_p.L86F|ENOX2_uc004evy.3_Missense_Mutation_p.L86F|ENOX2_uc004evv.3_5'UTR	NM_182314	NP_006366	Q16206	ENOX2_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA.	115	Pro-rich.				cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GGAGGTGGGAGATCTAAGTTG	0.423000														52			31		0	0	1	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122421	153122421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:153122421G>A	uc021ozu.1	-	0	166	c.166C>T	c.(166-168)Cct>Tct	p.P56S	SPRR2G_uc009wod.2_Missense_Mutation_p.P56S	NM_001014291	NP_001014313	Q9BYE4	SPR2G_HUMAN	Homo sapiens small proline-rich protein 2G (SPRR2G), mRNA.	56					keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCACAGGAGGGCATTTATCC	0.547000														92			41		0	0	1	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43670060	43670060	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:43670060C>T	uc001zro.3	+	4	640	c.400C>T	c.(400-402)Ccc>Tcc	p.P134S	TUBGCP4_uc001zrn.3_Missense_Mutation_p.P134S|TUBGCP4_uc010bdh.3_Non-coding_Transcript	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	Homo sapiens tubulin, gamma complex associated protein 4 (TUBGCP4), mRNA.	134					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GCTTCTTTTTCCCTCTGTGAT	0.323000														147			44		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32035464	32035464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:32035464C>T	uc003nzl.2	-	17	6720	c.6518G>A	c.(6517-6519)gGc>gAc	p.G2173D		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2245	Fibronectin type-III 14.				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						AGACACTGGGCCCACGCGCCG	0.647000														211			58		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12333117	12333117	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:12333117C>T	uc001atv.3	+	17	2302	c.2161C>T	c.(2161-2163)Cct>Tct	p.P721S	VPS13D_uc001atw.3_Missense_Mutation_p.P721S|VPS13D_uc001atx.3_5'Flank	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	721					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)		GGTGATATTTCCTGATGATTT	0.423000														93			29		0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53432467	53432467	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:53432467C>T	uc010eqj.3	-	3	601	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	ZNF816_uc002qaj.1_Missense_Mutation_p.E61K|ZNF816_uc002qak.2_Missense_Mutation_p.E115K	NM_001202473	NP_001189402	Q0VGE8	ZN816_HUMAN	Homo sapiens ZNF816-ZNF321P readthrough (ZNF816-ZNF321P), mRNA.	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TCTTTGATTTCTGTCATGGGT	0.408000														201			132		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181680125	181680125	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:181680125G>A	uc009wxt.3	+	7	1286	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	CACNA1E_uc001gow.3_Missense_Mutation_p.R364Q|CACNA1E_uc009wxs.3_Missense_Mutation_p.R364Q	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	364					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R364R(1)		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						GTGGAGAACCGAAGGGCTTTC	0.537000														99			28		0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013193	73013193	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:73013193C>T	uc003hgg.2	+	3	1331	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	NPFFR2_uc010iig.2_Silent_p.I193I|NPFFR2_uc003hgi.2_Silent_p.I312I|NPFFR2_uc003hgh.2_Silent_p.I309I	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	411					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			AACTGCAGATCATCAACATCT	0.473000														73			11		0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205116799	205116799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:205116799G>A	uc001hbw.3	-	12	2741	c.2677C>T	c.(2677-2679)Ccc>Tcc	p.P893S	DSTYK_uc001hbx.3_Missense_Mutation_p.P848S	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	893	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CTCTTCAAGGGGTCGCCATCC	0.542000														139			68		0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23837110	23837110	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:23837110C>A	uc002nri.3	-	3	807	c.625G>T	c.(625-627)Gtt>Ttt	p.V209F		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	Homo sapiens zinc finger protein 675 (ZNF675), mRNA.	209				Missing (in Ref. 2; BAC04216).	I-kappaB kinase/NF-kappaB cascade|bone resorption|cytokine-mediated signaling pathway|hemopoiesis|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GATTGGTTAACAGCTTTTTCA	0.323000														19			28		4.59853e-10	4.63235e-10	1	1	0
USH2A	7399	broad.mit.edu	37	1	215972452	215972452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:215972452G>A	uc001hku.1	-	49	10142	c.9755C>T	c.(9754-9756)cCa>cTa	p.P3252L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3252					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)		CTGTTCATCTGGACAGCATAC	0.403000										HNSCC(13;0.011)				14			17		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5685149	5685149	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:5685149G>A	uc001qnm.2	-	23	2544	c.2472C>T	c.(2470-2472)atC>atT	p.I824I		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	829						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						CCAGGCGGGGGATAAAGTCGG	0.517000														12			3		0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29853076	29853076	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:29853076C>T	uc002dui.3	+	8	1503	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.2_Non-coding_Transcript|MVP_uc002duj.3_Missense_Mutation_p.P451S|MVP_uc010vea.2_Missense_Mutation_p.P45S	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	451					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	p.A450A(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCCCTTGGCGCCCCGGAACAA	0.657000														35			8		0	0	1	0	0
MAOB	4129	broad.mit.edu	37	X	43628571	43628571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:43628571C>T	uc004dfz.4	-	12	1506	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K	MAOB_uc011mkx.2_Missense_Mutation_p.G395E|MAOB_uc011mky.2_Missense_Mutation_p.E428K	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	444					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	GCTGCTCTCTCCCCGGCCTCT	0.572000														21			16		0	0	1	0	0
LOXL1	4016	broad.mit.edu	37	15	74240205	74240205	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:74240205G>A	uc002awc.1	+	4	1900	c.1564G>A	c.(1564-1566)Gac>Aac	p.D522N		NM_005576	NP_005567	Q08397	LOXL1_HUMAN	Homo sapiens lysyl oxidase-like 1 (LOXL1), mRNA.	522	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						CCAGTGGATCGACATAACCGA	0.577000														163			47		0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145667651	145667651	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:145667651C>T	uc011llg.2	-	5	738	c.723G>A	c.(721-723)gaG>gaA	p.E241E		NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	Homo sapiens tonsoku-like, DNA repair protein (TONSL), mRNA.	241					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AGCACTCGCTCTCCATGAACC	0.627000														115			37		0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79403621	79403621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:79403621C>T	uc001diq.4	-	5	787	c.631G>A	c.(631-633)Gac>Aac	p.D211N		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	211					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			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)		GATAACTTGTCCCAAACTACA	0.343000														121			24		0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171168502	171168502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:171168502G>A	uc001ghk.1	+	4	619	c.502G>A	c.(502-504)Ggc>Agc	p.G168S	FMO2_uc010pmd.1_Intron	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	168					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	p.G168D(1)		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)					GAGGTTCAAAGGCCAATATTT	0.448000														88			39		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216107984	216107984	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:216107984G>C	uc001hku.1	-	37	7661	c.7274C>G	c.(7273-7275)cCt>cGt	p.P2425R		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2425	Fibronectin type-III 10.				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)		AATTGTTATAGGATCAGTTAT	0.378000										HNSCC(13;0.011)				44			12		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196722214	196722214	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:196722214G>A	uc002utj.4	-	43	8402	c.8301C>T	c.(8299-8301)atC>atT	p.I2767I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2767	Stalk (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						TTTTTCTTATGATATTCATAT	0.393000														45			18		0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4832398	4832398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:4832398G>A	uc001alm.1	+	3	1357	c.976G>A	c.(976-978)Gag>Aag	p.E326K	AJAP1_uc001aln.3_Missense_Mutation_p.E326K	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	326	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CAACCAGCAGGAGGAGAGCTG	0.617000														62			34		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2016688	2016688	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:2016688G>A	uc021qsx.1	-	5	930	c.699C>T	c.(697-699)gtC>gtT	p.V233V	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.V233V	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	233						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TCTCCACGAAGACAGCATTCA	0.438000														41			12		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28458946	28458946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:28458946G>A	uc001zbj.3	-	41	6834	c.6728C>T	c.(6727-6729)aCc>aTc	p.T2243I		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2243					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAACTGCACGGTGATTTTGCC	0.512000														139			33		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10725204	10725204	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:10725204C>T	uc001aro.3	-	4	761	c.441G>A	c.(439-441)gaG>gaA	p.E147E	CASZ1_uc001arp.1_Silent_p.E147E|CASZ1_uc009vmx.2_Silent_p.E171E	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	147					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)		AATCCTTCTCCTCCAGGGCAC	0.677000														63			23		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878173	24878173	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:24878173C>T	uc001wpf.4	+	3	1491	c.1173C>T	c.(1171-1173)ccC>ccT	p.P391P		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	391					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						TCAATTTCCCCTTCTGGCAGA	0.562000														43			17		0	0	1	0	0
BPIFA3	128861	broad.mit.edu	37	20	31814248	31814248	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:31814248C>T	uc002wyr.3	+	4	781	c.573C>T	c.(571-573)aaC>aaT	p.N191N	BPIFA3_uc002wys.3_Silent_p.N155N	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN	Homo sapiens BPI fold containing family A, member 3 (BPIFA3), transcript variant 1, mRNA.	191						extracellular region	lipid binding										TTCTCTACAACCTCAAAGAGA	0.428000														68			34		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73065803	73065804	+	RNA	DNP	TG	AT	AT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:73065803_73065804TG>AT	uc004ebm.1	-	0		c.6785_6786CA>AT								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CTTATTCAGATGGAATGGGCAA	0.465000														95			66		0	0	1	0	0
MAP3K2	10746	broad.mit.edu	37	2	128066222	128066222	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:128066222G>A	uc002toj.2	-	14	1673	c.1573C>T	c.(1573-1575)Cca>Tca	p.P525S		NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 2 (MAP3K2), mRNA.	525	Protein kinase.				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)		ATCCAGTATGGTGTGCCCGTG	0.488000														154			56		0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77710755	77710755	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:77710755C>T	uc001xtf.2	+	15	1617	c.1405C>T	c.(1405-1407)Ctg>Ttg	p.L469L	TMEM63C_uc010asq.1_Silent_p.L469L	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	469						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)		GATACTGCCTCTGATTGTCTA	0.612000														203			81		0	0	1	0	0
RAX	30062	broad.mit.edu	37	18	56936640	56936640	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:56936640T>G	uc002lhx.3	-	2	824	c.637A>C	c.(637-639)Agc>Cgc	p.S213R	RAX_uc010dpp.3_3'UTR	NM_013435	NP_038463	Q9Y2V3	RX_HUMAN	Homo sapiens retina and anterior neural fold homeobox (RAX), mRNA.	213					visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		GGGGAGCGGCTGAAGGAGAGG	0.736000														9			3		0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31595755	31595755	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:31595755G>A	uc001rkh.1	-	8	2222	c.2071C>T	c.(2071-2073)Cca>Tca	p.P691S	DENND5B_uc001rki.1_Missense_Mutation_p.P656S|DENND5B_uc001rkj.3_Missense_Mutation_p.P678S	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	656						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TGTAACTTTGGAAAGAACCCC	0.428000														27			4		0	0	1	0	0
FOXN4	121643	broad.mit.edu	37	12	109717605	109717605	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:109717605G>A	uc001toe.4	-	9	1530	c.1425C>T	c.(1423-1425)tcC>tcT	p.S475S	FOXN4_uc009zvg.3_Silent_p.S272S|FOXN4_uc001tof.4_Silent_p.S295S	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	Homo sapiens forkhead box N4 (FOXN4), mRNA.	475					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|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			large_intestine(5)|lung(9)|ovary(2)	16						AGTCTGGGAAGGACTGGTCGC	0.642000														26			6		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24400740	24400740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:24400740C>T	uc001bin.4	-	22	3041	c.2878G>A	c.(2878-2880)Gaa>Aaa	p.E960K	MYOM3_uc001bim.4_Missense_Mutation_p.E617K|MYOM3_uc001bio.3_Missense_Mutation_p.E960K	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	960										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		AGGCCGGGTTCTTTCAGGATG	0.582000														124			47		0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74905279	74905279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:74905279G>A	uc001dge.2	+	21	2354	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.E763K|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.E662K	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	662						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TCTCACTGGCGAAATTCCATT	0.438000														61			16		0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52827812	52827812	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:52827812C>T	uc001saj.2	-	0	299	c.277G>A	c.(277-279)Gga>Aga	p.G93R		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	93	Gly-rich.|Head.					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)		CTGTTGACTCCAAACCTGTTG	0.617000														125			48		0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56350865	56350865	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:56350865G>A	uc002ivu.1	-	8	1708	c.1531C>T	c.(1531-1533)Cgc>Tgc	p.R511C		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	511					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TTGTCCAGGCGGAACATGAAG	0.587000														240			90		0	0	1	0	0
CCDC56	28958	broad.mit.edu	37	17	40947899	40947899	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:40947899A>G	uc010wgz.1	-	2	636	c.359T>C	c.(358-360)gTt>gCt	p.V120A	WNK4_uc002ibj.3_Silent_p.E1093E|WNK4_uc010wgx.2_Silent_p.E757E|CNTD1_uc002ibm.4_5'Flank			Q9Y2R0	CCD56_HUMAN	Homo sapiens coiled-coil domain containing 56 (CCDC56), mRNA.	0						integral to membrane				liver(1)	1		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0741)		ATGGGAAGGAACCCCAAGTTG	0.617000														71			28		0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165957015	165957015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:165957015G>A	uc003qun.3	-	2	324	c.79C>T	c.(79-81)Ccc>Tcc	p.P27S	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_5'UTR|PDE10A_uc003quo.3_Missense_Mutation_p.P37S	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	27					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AATACCTGGGGGTGAAGAGAA	0.358000														42			27		0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92346565	92346565	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:92346565G>A	uc003yez.3	+	5	924	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	SLC26A7_uc003yex.3_Missense_Mutation_p.E229K|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.E229K	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	229						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)			TGTGCGACTGGAAGCATTGCT	0.333000														38			17		0	0	1	0	0
SHB	6461	broad.mit.edu	37	9	37919851	37919851	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:37919851G>A	uc004aax.3	-	5	2065	c.1497C>T	c.(1495-1497)tcC>tcT	p.S499S		NM_003028	NP_003019	Q15464	SHB_HUMAN	Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.	499	SH2.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GATAGAGGAGGGACAAGTGCT	0.597000														114			27		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94089029	94089029	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:94089029G>A	uc001ybv.1	+	27	5068	c.4985G>A	c.(4984-4986)aGg>aAg	p.R1662K	UNC79_uc001ybs.1_Missense_Mutation_p.R1640K	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1817						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						AATCCTGAAAGGAAGGTGGAA	0.473000														39			9		0	0	1	0	0
CSE1L	1434	broad.mit.edu	37	20	47686748	47686748	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:47686748C>T	uc002xty.3	+	7	816	c.682C>T	c.(682-684)Cct>Tct	p.P228S	CSE1L_uc010zyg.2_Missense_Mutation_p.P11S|CSE1L_uc010ghx.3_Missense_Mutation_p.P228S|CSE1L_uc010ghy.3_5'Flank|CSE1L_uc010zyh.2_5'Flank	NM_001316	NP_001307	P55060	XPO2_HUMAN	Homo sapiens CSE1 chromosome segregation 1-like (yeast) (CSE1L), transcript variant 1, mRNA.	228					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GTAGGATCTCCCTGAATTTTT	0.279000														98			31		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69681805	69681805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:69681805G>A	uc003hee.3	+	0	93	c.68G>A	c.(67-69)gGa>gAa	p.G23E	UGT2B10_uc011cam.2_Missense_Mutation_p.G23E	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	23					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GGGAGTTGTGGAAAGGTGCTG	0.438000														68			17		0	0	1	0	0
SLC7A7	9056	broad.mit.edu	37	14	23282435	23282435	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:23282435G>A	uc001wgr.4	-	1	311	c.173C>T	c.(172-174)tCc>tTc	p.S58F	SLC7A7_uc001wgs.4_Missense_Mutation_p.S58F|SLC7A7_uc001wgt.4_Missense_Mutation_p.S58F|SLC7A7_uc001wgu.4_Missense_Mutation_p.S58F|SLC7A7_uc001wgv.4_Missense_Mutation_p.S58F	NM_001126106	NP_001119578	Q9UM01	YLAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 (SLC7A7), transcript variant 3, mRNA.	58					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		ACCCTTGGGGGAAACAAAGAT	0.572000														164			59		0	0	1	0	0
DIXDC1	85458	broad.mit.edu	37	11	111844759	111844759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:111844759G>A	uc001pml.3	+	3	626	c.329G>A	c.(328-330)gGa>gAa	p.G110E	DIXDC1_uc001pmj.3_Missense_Mutation_p.G103E|DIXDC1_uc001pmk.3_Missense_Mutation_p.G110E	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	Homo sapiens DIX domain containing 1 (DIXDC1), transcript variant 1, mRNA.	110	CH.				Wnt receptor signaling pathway|multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		ATTGTGGATGGAAACCTGAAG	0.483000														43			21		0	0	1	0	0
SPINK6	404203	broad.mit.edu	37	5	147582695	147582695	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:147582695G>A	uc003lpa.3	+	0	339	c.36G>A	c.(34-36)ctG>ctA	p.L12L	SPINK6_uc021yff.1_Silent_p.L12L	NM_205841	NP_995313	Q6UWN8	ISK6_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 6 (SPINK6), transcript variant 1, mRNA.	12						extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTCTCTCTGGCTCTTTTCT	0.363000														51			16		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87966247	87966247	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:87966247G>A	uc001kdl.1	-	2	495	c.394C>T	c.(394-396)Ccc>Tcc	p.P132S	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	132						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)	TCGGGGCTGGGGTTCAGGTGG	0.632000										Multiple Myeloma(13;0.14)				56			38		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90536137	90536137	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:90536137G>A	uc010mqi.3	+	3	1344	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	FAM75C1_uc004apq.4_Missense_Mutation_p.E422K	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		CCTTCCCCAGGAAAGACTGAC	0.493000														256			104		0	0	1	0	0
BTNL2	56244	broad.mit.edu	37	6	32372842	32372842	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:32372842C>T	uc003obg.1	-	1	301	c.301G>A	c.(301-303)Ggc>Agc	p.G101S	BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	101	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						TTTGCAATGCCATTCTCTATC	0.517000														244			93		0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4523782	4523782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:4523782C>T	uc002mas.3	-	7	1203	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	Homo sapiens perilipin 5 (PLIN5), mRNA.	384						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						TCGGGTCGCTCCACAAGGATG	0.746000														64			20		0	0	1	0	0
CCDC103	388389	broad.mit.edu	37	17	42979994	42979994	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:42979994C>T	uc002iho.3	+	3	621	c.538C>T	c.(538-540)Cta>Tta	p.L180L	FAM187A_uc002ihp.1_5'Flank	NM_213607	NP_998772	Q8IW40	CC103_HUMAN	Homo sapiens coiled-coil domain containing 103 (CCDC103), mRNA.	180										endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				CACCCTGAACCTAAGCCTGCT	0.647000														98			34		0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298405	107298405	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:107298405C>T	uc004bcb.1	-	0	690	c.690G>A	c.(688-690)gtG>gtA	p.V230V		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	230					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						TATTTGATATCACCATGGTGA	0.388000														63			33		0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40900362	40900362	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:40900362C>T	uc002onr.3	-	6	4166	c.3897G>A	c.(3895-3897)gaG>gaA	p.E1299E	PRX_uc002onq.3_Silent_p.E1160E|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1299					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGTGTCCGGCCTCTCCCTCCC	0.682000														11			6		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95954277	95954277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:95954277C>T	uc002suk.3	+	21	2514	c.2381C>T	c.(2380-2382)cCc>cTc	p.P794L	PROM2_uc002suh.2_Missense_Mutation_p.P794L|PROM2_uc002sui.3_Missense_Mutation_p.P794L|PROM2_uc002suj.3_Missense_Mutation_p.P448L|PROM2_uc002sul.3_Missense_Mutation_p.P320L|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	794						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TTCCTGATCCCCAGCATCATC	0.607000														165			53		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97051840	97051840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:97051840G>A	uc021rcc.1	+	3	634	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	186										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						GGAAAAATGGGAAACACTAGT	0.333000														74			21		0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47716976	47716976	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:47716976G>A	uc001crd.1	-	16	3854	c.3699C>T	c.(3697-3699)acC>acT	p.T1233T	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.T1186T|STIL_uc010omo.1_Silent_p.T1215T|STIL_uc001crc.1_Silent_p.T1232T|STIL_uc001cre.1_Silent_p.T1232T	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	1232					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CTGCTTTCCCGGTTCGAAGGT	0.403000														152			52		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131848648	131848648	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:131848648G>A	uc003ytd.4	-	11	2806	c.2550C>T	c.(2548-2550)ttC>ttT	p.F850F	ADCY8_uc010mds.3_Silent_p.F719F	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	850					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)			TCAGCCGGAGGAAAACTGCAC	0.547000										HNSCC(32;0.087)				49			12		0	0	1	0	0
GAS2	2620	broad.mit.edu	37	11	22707215	22707215	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:22707215G>A	uc009yie.3	+	3	452	c.146_splice	c.e3-1	p.G49_splice	GAS2_uc001mqm.3_Splice_Site_p.G49_splice|GAS2_uc001mqn.3_Splice_Site|GAS2_uc001mqo.3_Splice_Site_p.G49_splice	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	49	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TTATTTCAGGGAAGGAGATTA	0.343000														66			14		0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110544971	110544971	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:110544971C>T	uc004epd.3	-	7	1442	c.1270_splice	c.e7-1	p.D424_splice	DCX_uc011msv.2_Splice_Site_p.D429_splice|DCX_uc004epe.3_Splice_Site_p.D343_splice|DCX_uc004epf.3_Splice_Site_p.D348_splice|DCX_uc004epg.3_Splice_Site_p.D343_splice	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	424					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGGTACAGGTCCTATAAGAAG	0.393000														39			29		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166900267	166900267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:166900267G>A	uc002udo.4	-	12	2182	c.1955C>T	c.(1954-1956)tCc>tTc	p.S652F	SCN1A_uc010fpk.3_Missense_Mutation_p.S652F|SCN1A_uc021vsb.1_Missense_Mutation_p.S652F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	652						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)	ACCAACCAAGGAAACCACACC	0.493000														61			30		0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9463340	9463340	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:9463340G>T	uc002qzh.2	+	5	901	c.561G>T	c.(559-561)atG>atT	p.M187I	ASAP2_uc002qzi.2_Missense_Mutation_p.M187I	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	187					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						CCGAAGAGATGGAAAAGGAGA	0.537000														190			78		6.11987e-43	6.21248e-43	1	1	0
OR8G2	26492	broad.mit.edu	37	11	124095961	124095961	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:124095961C>T	uc010saf.2	+	0	564	c.564C>T	c.(562-564)aaC>aaT	p.N188N		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	188						integral to 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;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ATGTGATTAACCATTATTTTT	0.423000														171			124		0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52892383	52892383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:52892383G>A	uc010ugf.2	-	7	2745	c.2611C>T	c.(2611-2613)Cca>Tca	p.P871S	FAM214A_uc002acg.4_Missense_Mutation_p.P864S|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Missense_Mutation_p.P776S	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	864																	CTCAAAAATGGTTTTTCATGA	0.308000														64			32		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142609744	142609744	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:142609744G>A	uc003wby.1	-	12	1956	c.1692C>T	c.(1690-1692)atC>atT	p.I564I		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	564					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GTGTGGCAATGATGGCGAAGG	0.542000														131			51		0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222712039	222712039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:222712039C>T	uc001hnh.1	-	4	1586	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	510					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)		TTTGGGGATTCACAACCACGA	0.433000														223			90		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23896073	23896073	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:23896073C>T	uc001wjx.3	-	18	2063	c.1957_splice	c.e18-1	p.E653_splice		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	653	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCAGATTTTCCTGTGGCCAA	0.438000														72			25		0	0	1	0	0
MFSD9	84804	broad.mit.edu	37	2	103340268	103340268	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:103340268G>A	uc002tcb.2	-	4	596	c.528C>T	c.(526-528)tcC>tcT	p.S176S	MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Silent_p.S115S	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	176					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						AGCCCACACCGGAGGCTGTGT	0.488000														107			54		0	0	1	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998818	8998818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:8998818G>A	uc022arp.1	-	0	344	c.344C>T	c.(343-345)tCc>tTc	p.S115F	PPP1R3B_uc003wsn.4_Missense_Mutation_p.S115F|PPP1R3B_uc003wso.4_Missense_Mutation_p.S115F	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3B (PPP1R3B), transcript variant 2, mRNA.	115					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)		AGAGGGCTGGGAAAAATCCAG	0.498000														82			21		0	0	1	0	0
OR56A5	390084	broad.mit.edu	37	11	5989598	5989598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:5989598C>T	uc010qzu.2	-	0	127	c.127G>A	c.(127-129)Ggg>Agg	p.G43R		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	43						integral to membrane|plasma membrane	olfactory receptor activity										GCATTGGCCCCCATGGCCAGG	0.567000														26			17		0	0	1	0	0
FAM75A2	642265	broad.mit.edu	37	9	39888229	39888229	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:39888229G>A	uc004abp.3	+	3	1245	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K		NM_001040065	NP_001035154	Q5RGS2	F75A2_HUMAN	Homo sapiens family with sequence similarity 75, member A2 (FAM75A2), mRNA.	406						integral to membrane		p.Q405K(1)		lung(4)|skin(1)|upper_aerodigestive_tract(1)	6				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GCTCTGGCAGGAAAGTTTTTG	0.527000														416			170		0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50513579	50513579	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:50513579C>T	uc003daq.3	-	1	296	c.258G>A	c.(256-258)cgG>cgA	p.R86R	CACNA2D2_uc003dap.3_Silent_p.R86R	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	86					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			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)	CTCCAAAAATCCGCATCACGC	0.607000														23			5		0	0	1	0	0
NFIC	4782	broad.mit.edu	37	19	3381895	3381895	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:3381895G>A	uc010xhi.2	+	1	286	c.216G>A	c.(214-216)tgG>tgA	p.W72*	NFIC_uc002lxo.3_Nonsense_Mutation_p.W63*|NFIC_uc010xhh.2_Nonsense_Mutation_p.W63*|NFIC_uc010xhj.2_Nonsense_Mutation_p.W72*|NFIC_uc002lxp.3_Nonsense_Mutation_p.W72*	NM_001245002	NP_001231931	P08651	NFIC_HUMAN	Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA.	72					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		AGCAGAAGTGGGCGTCGCGGC	0.652000														157			66		0	0	1	0	0
PTAR1	375743	broad.mit.edu	37	9	72333278	72333278	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:72333278G>A	uc004ahj.4	-	7	1211	c.1189C>T	c.(1189-1191)Ctg>Ttg	p.L397L	PTAR1_uc004ahi.3_Silent_p.L345L	NM_001099666	NP_001093136	Q7Z6K3	PTAR1_HUMAN	Homo sapiens protein prenyltransferase alpha subunit repeat containing 1 (PTAR1), mRNA.	397					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						AAAGTAACCAGCCATTTCCTG	0.428000														23			3		0	0	1	0	0
NEMF	9147	broad.mit.edu	37	14	50272836	50272836	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:50272836G>C	uc010anj.1	-	18	1828	c.1760C>G	c.(1759-1761)cCa>cGa	p.P587R	NEMF_uc001wxc.3_Missense_Mutation_p.P587R|NEMF_uc010tqi.2_Missense_Mutation_p.P566R|NEMF_uc001wxe.2_Missense_Mutation_p.P545R|NEMF_uc001wxd.1_5'UTR	NM_004713	NP_004704	O60524	NEMF_HUMAN	Homo sapiens nuclear export mediator factor (NEMF), mRNA.	587						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CAAGGTCCGTGGGGGGATGGG	0.468000														56			19		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16038271	16038271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:16038271C>T	uc002nbu.2	-	3	402	c.366G>A	c.(364-366)atG>atA	p.M122I	CYP4F11_uc010eab.1_Missense_Mutation_p.M122I|CYP4F11_uc002nbt.2_Missense_Mutation_p.M122I	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	122					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						CATAGAAAATCATATCCTTGG	0.537000														516			118		0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179236866	179236866	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179236866A>T	uc002uly.3	+	14	1920	c.1376A>T	c.(1375-1377)aAt>aTt	p.N459I	OSBPL6_uc002ulw.3_Intron|OSBPL6_uc002ulx.3_Missense_Mutation_p.N434I|OSBPL6_uc010zfe.2_Missense_Mutation_p.N403I|OSBPL6_uc002ulz.3_Intron|OSBPL6_uc002uma.3_Missense_Mutation_p.N438I	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	434					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)			CTCAACCAGAATGCTGAACTA	0.333000														62			26		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154156898	154156898	+	Missense_Mutation	SNP	C	T	T	rs137852373		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:154156898C>T	uc004fmt.3	-	13	5338	c.5167G>A	c.(5167-5169)Gag>Aag	p.E1723K		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1723	F5/8 type A 3.|Plastocyanin-like 5.		E -> K (in HEMA; severe).		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)	CAGAGCCTCTCCACTGCAGCA	0.413000														16			19		0	0	1	0	0
DEFB112	245915	broad.mit.edu	37	6	50016362	50016362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:50016362C>T	uc011dws.2	-	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	Homo sapiens defensin, beta 112 (DEFB112), mRNA.	1					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TCAATAATTTCATAAGAGTGC	0.323000														29			13		0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100192111	100192111	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100192111A>G	uc011kjz.1	+	5	1081	c.1013A>G	c.(1012-1014)cAc>cGc	p.H338R	FBXO24_uc003uvl.1_Missense_Mutation_p.H286R|FBXO24_uc003uvm.1_Missense_Mutation_p.H300R|FBXO24_uc003uvn.1_5'UTR|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Missense_Mutation_p.H288R|LOC100129845_uc022air.1_Intron	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	300						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TACCTGCCTCACCTGCGCGTG	0.597000														71			24		0	0	1	0	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22709708	22709708	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:22709708G>A	uc010axw.2	-	9	1077	c.179C>T	c.(178-180)tCg>tTg	p.S60L	abParts_uc001yuj.2_Intron|GOLGA8DP_uc010axx.2_Missense_Mutation_p.S60L|DQ588687_uc010tzw.1_5'Flank|DQ582939_uc021sfj.1_5'Flank					Homo sapiens golgin A8 family, member D, pseudogene (GOLGA8DP), non-coding RNA.																		CTTCTTCAACGAGCAAACCTG	0.547000														217			97		0	0	1	0	0
SSTR1	6751	broad.mit.edu	37	14	38678629	38678629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:38678629C>T	uc021rsi.1	+	0	35	c.35C>T	c.(34-36)tCc>tTc	p.S12F	SSTR1_uc001wul.1_Missense_Mutation_p.S12F	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	12					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	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;0.00444)	Octreotide(DB00104)	TCTCCTTCCTCCTCTCCTAGC	0.746000														22			4		0	0	1	0	0
ADRA2B	151	broad.mit.edu	37	2	96781270	96781270	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:96781270G>A	uc021vlh.1	-	0	619	c.619C>T	c.(619-621)Ccc>Tcc	p.P207S		NM_000682	NP_000673	P18089	ADA2B_HUMAN	Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	207					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)	TTGGCCCTGGGACCTCTGCGG	0.627000														54			33		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110505901	110505901	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:110505901G>A	uc003yne.3	+	62	10352	c.10248G>A	c.(10246-10248)ggG>ggA	p.G3416G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3416					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)			TAAATAGAGGGACCAATACAG	0.353000										HNSCC(38;0.096)				15			4		0	0	1	0	0
TUBG1	7283	broad.mit.edu	37	17	40766394	40766394	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:40766394C>T	uc002ian.3	+	8	1358	c.960C>T	c.(958-960)atC>atT	p.I320I		NM_001070	NP_001061	P23258	TBG1_HUMAN	Homo sapiens tubulin, gamma 1 (TUBG1), mRNA.	320					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		ACATCGCCATCCTCAACATCA	0.627000														57			28		0	0	1	0	0
H3F3C	440093	broad.mit.edu	37	12	31944699	31944699	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:31944699T>A	uc001rkr.3	-	0	477	c.402A>T	c.(400-402)agA>agT	p.R134S		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	Homo sapiens H3 histone, family 3C (H3F3C), mRNA.	134					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						TCACTTAAGCTCTCTCTCCCC	0.408000										HNSCC(67;0.2)				189			45		0	0	1	0	0
HLA-C	3107	broad.mit.edu	37	6	31322439	31322439	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:31322439C>G	uc003nth.2	-	5	1070	c.1016G>C	c.(1015-1017)gGa>gCa	p.G339A	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Missense_Mutation_p.G218A|HLA-C_uc003nti.1_Non-coding_Transcript	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	340					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CCCTCCTTTTCCACCTGTGGG	0.562000														111			37		0	0	1	0	0
PUS7L	83448	broad.mit.edu	37	12	44124202	44124202	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:44124202C>T	uc001rns.4	-	8	2163	c.2083G>A	c.(2083-2085)Gaa>Aaa	p.E695K	PUS7L_uc001rnq.4_Missense_Mutation_p.E695K|PUS7L_uc001rnr.4_Missense_Mutation_p.E695K|PUS7L_uc009zkb.3_Missense_Mutation_p.E382K	NM_031292	NP_112582	Q9H0K6	PUS7L_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA.	695					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTCATTATTTCCTTCAGACAA	0.378000														40			14		0	0	1	0	0
SLC25A21	89874	broad.mit.edu	37	14	37344171	37344171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:37344171C>T	uc001wtz.2	-	1	419	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	SLC25A21_uc021rsf.1_Missense_Mutation_p.V37M	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.	37					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)		CTGGTTTTCACCACATCTAGG	0.378000														30			9		0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46631032	46631032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:46631032C>T	uc003bhb.1	+	6	1285	c.1162C>T	c.(1162-1164)Cgt>Tgt	p.R388C	PPARA_uc003bgw.1_Missense_Mutation_p.R388C|PPARA_uc003bgx.1_Missense_Mutation_p.R388C|PPARA_uc010hab.1_Missense_Mutation_p.R388C|PPARA_uc010hac.1_Missense_Mutation_p.R185C	NM_005036	NP_005027	Q07869	PPARA_HUMAN	Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	388	Ligand-binding.|Required for heterodimerization with RXRA.				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	GAGACTAGATCGTCCTGGCCT	0.448000														171			69		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189582089	189582089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:189582089G>A	uc003fry.2	+	4	737	c.648G>A	c.(646-648)atG>atA	p.M216I	TP63_uc003frx.2_Missense_Mutation_p.M216I|TP63_uc003frz.2_Missense_Mutation_p.M216I|TP63_uc010hzc.1_Missense_Mutation_p.M216I|TP63_uc003fsa.2_Missense_Mutation_p.M122I|TP63_uc003fsb.2_Missense_Mutation_p.M122I|TP63_uc003fsc.2_Missense_Mutation_p.M122I|TP63_uc003fsd.2_Missense_Mutation_p.M122I|TP63_uc021xir.1_Missense_Mutation_p.M122I|TP63_uc010hzd.1_Missense_Mutation_p.M37I|TP63_uc003fse.1_Missense_Mutation_p.M97I	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	216					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			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)		TCAAGGTGATGACCCCACCTC	0.527000										HNSCC(45;0.13)				163			37		0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729931	41729931	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:41729931C>T	uc003thq.3	-	1	833	c.598G>A	c.(598-600)Gag>Aag	p.E200K	INHBA_uc003thr.3_Missense_Mutation_p.E200K	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	200					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						TCACTCCTCTCCCCCTTTAAG	0.582000										TSP Lung(11;0.080)				52			12		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115220063	115220063	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:115220063G>A	uc001efe.2	-	9	1444	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S	AMPD1_uc001eff.2_Missense_Mutation_p.P462S	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	433					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)	CACTCATCAGGACTGCGGCCA	0.567000														90			82		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114274809	114274809	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:114274809G>A	uc003ibe.4	+	37	5135	c.5035G>A	c.(5035-5037)Ggg>Agg	p.G1679R	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.G1694R	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1646					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)		TGAAAAGGAAGGGAAAGACAT	0.463000														54			7		0	0	1	0	0
VENTXP7	391518	broad.mit.edu	37	3	21447718	21447718	+	RNA	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:21447718G>A	uc003ccd.3	+	0		c.501G>A								Homo sapiens VENT homeobox pseudogene 7 (VENTXP7), non-coding RNA.																		GTCTCTCCACGGGCCCCCTGC	0.597000														11			16		0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41790352	41790352	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:41790352G>A	uc010lxb.3	-	17	5930	c.5386C>T	c.(5386-5388)Cca>Tca	p.P1796S	KAT6A_uc010lxc.3_Missense_Mutation_p.P1796S|KAT6A_uc003xon.4_Missense_Mutation_p.P1796S	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	1796					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										GGATGAGATGGAGCCAGCTGA	0.522000														186			50		0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237300635	237300635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:237300635C>T	uc002vwb.2	-	10	1452	c.1418G>A	c.(1417-1419)gGa>gAa	p.G473E	IQCA1_uc002vvz.1_Missense_Mutation_p.G466E|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.G425E	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	466	Lys-rich.						ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						CTTTTTCTTTCCTGCTTTCAC	0.498000														291			93		0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66838419	66838419	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:66838419G>A	uc001stk.3	-	11	1717	c.1476C>T	c.(1474-1476)ctC>ctT	p.L492L	GRIP1_uc010sta.1_Silent_p.L436L|GRIP1_uc001stj.3_Silent_p.L274L|GRIP1_uc001stm.3_Silent_p.L492L|GRIP1_uc001stl.1_Silent_p.L384L	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	544	PDZ 4.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AAGAGTCTCGGAGGAGCTGAC	0.448000														118			62		0	0	1	0	0
POU5F1B	5462	broad.mit.edu	37	8	128429045	128429045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:128429045C>T	uc003ysf.3	+	0	1189	c.934C>T	c.(934-936)Cct>Tct	p.P312S	LOC727677_uc003ysc.1_Intron|LOC727677_uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|POU5F1B_uc011liu.1_5'Flank	NM_001159542	NP_001153014	Q06416	P5F1B_HUMAN	Homo sapiens POU class 5 homeobox 1B (POU5F1B), mRNA.	312						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						AGTGTCCTTTCCTCCGGCCCC	0.587000														15			4		0	0	1	0	0
ARSA	410	broad.mit.edu	37	22	51063591	51063591	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:51063591G>A	uc003bna.4	-	7	1516	c.1254C>T	c.(1252-1254)tgC>tgT	p.C418C	ARSA_uc021wsd.1_Silent_p.C504C|ARSA_uc021wse.1_Silent_p.C504C|ARSA_uc021wsf.1_Silent_p.C504C|ARSA_uc003bmz.4_Silent_p.C502C	NM_001085428	NP_001078897	P15289	ARSA_HUMAN	Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.	502						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	GGGGATCTGGGCAATGGCAGC	0.692000														20			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072587	9072587	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9072587G>A	uc002mkp.3	-	2	15063	c.14859C>T	c.(14857-14859)tcC>tcT	p.S4953S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4955	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						TGGTTTCTGTGGAGATGTCTA	0.512000														94			37		0	0	1	0	0
IFNAR2	3455	broad.mit.edu	37	21	34635620	34635620	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:34635620G>A	uc002yrd.3	+	8	1691	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	IFNAR2_uc002yre.3_Missense_Mutation_p.E455K|IFNAR2_uc002yrf.3_3'UTR|IFNAR2_uc002yri.1_Intron|IFNAR2_uc002yrh.1_Intron	NM_207585	NP_997468	P48551	INAR2_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA.	455					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					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)	TCATCTGGAAGAGATGGTTGA	0.498000														381			142		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114158657	114158657	+	Splice_Site	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:114158657A>T	uc001kzu.3	+	3	437	c.325_splice	c.e3-2	p.G109_splice	ACSL5_uc001kzs.3_Splice_Site_p.G53_splice|ACSL5_uc001kzt.3_Splice_Site_p.G53_splice|ACSL5_uc009xxz.3_Splice_Site_p.G53_splice	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	53					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)		CTTGTGTCTTAGGGAGGAGCA	0.438000														53			32		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38939129	38939129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:38939129C>T	uc002oit.3	+	9	1065	c.935C>T	c.(934-936)tCc>tTc	p.S312F	RYR1_uc002oiu.3_Missense_Mutation_p.S312F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	312	MIR 4.				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)	AAGGCTACCTCCTTCTGCTTC	0.647000														134			76		0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4673996	4673996	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:4673996C>T	uc021qcq.1	+	0	240	c.240C>T	c.(238-240)tcC>tcT	p.S80S	OR51E1_uc001lzi.4_Silent_p.S80S	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCACCTCATCCATGCCCAAAA	0.468000														62			24		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4732914	4732914	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:4732914C>T	uc003bqc.3	+	30	4220	c.3870C>T	c.(3868-3870)ttC>ttT	p.F1290F	ITPR1_uc021wsi.1_Silent_p.F1296F|ITPR1_uc021wsj.1_Silent_p.F1281F|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1305					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TTCAGCACTTCGTTCACTGCA	0.428000														58			10		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92731247	92731247	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:92731247G>A	uc003umf.3	-	2	4434	c.4164C>T	c.(4162-4164)ttC>ttT	p.F1388F	SAMD9_uc003umg.3_Silent_p.F1388F|SAMD9_uc022ahg.1_Silent_p.F1388F	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1388						cytoplasm		p.F1388F(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)			TGGCCAAGATGAAATTTAGCT	0.358000														112			41		0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138453617	138453618	+	Missense_Mutation	DNP	GG	AA	AA	rs146908661	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:138453617_138453618GG>AA	uc011bmq.2	-	4	830_831	c.830_831CC>TT	c.(829-831)gcc>gTT	p.A277V		NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	277	PI3K-RBD.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AATGGGGCAGGGCTCTGTTCAT	0.386000														236			53		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7572293	7572293	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:7572293G>A	uc003mxp.1	+	14	2401	c.2122G>A	c.(2122-2124)Gag>Aag	p.E708K	DSP_uc003mxq.1_Missense_Mutation_p.E708K|DSP_uc021yle.1_Missense_Mutation_p.E708K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	708	Globular 1.				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)		GAAAATTAACGAGCTTAAGGT	0.408000														40			14		0	0	1	0	0
FBXO9	26268	broad.mit.edu	37	6	52957291	52957291	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:52957291C>T	uc021zas.1	+	6	799	c.748C>T	c.(748-750)Ccg>Tcg	p.P250S	FBXO9_uc021zao.1_Missense_Mutation_p.P130S|FBXO9_uc021zap.1_Missense_Mutation_p.P130S|FBXO9_uc021zaq.1_Missense_Mutation_p.P240S|FBXO9_uc021zar.1_Missense_Mutation_p.P130S	NM_012347	NP_036479	Q9UK97	FBX9_HUMAN	Homo sapiens F-box protein 9 (FBXO9), transcript variant 1, mRNA.	250						ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					TAAACTTGTTCCGTACACGTC	0.418000														126			51		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118997908	118997908	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:118997908C>T	uc004bjn.3	+	6	3105	c.2724C>T	c.(2722-2724)ttC>ttT	p.F908F	PAPPA_uc011lxp.1_Silent_p.F603F|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	908					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						ATAGGAAATTCGTAGACATGT	0.517000														90			37		0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108338907	108338907	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:108338907C>T	uc001kyl.3	-	25	3656	c.3474G>A	c.(3472-3474)caG>caA	p.Q1158Q	SORCS1_uc021pxw.1_Silent_p.Q1158Q|SORCS1_uc009xxs.3_Intron|SORCS1_uc001kym.3_Intron|SORCS1_uc001kyn.2_Silent_p.Q1158Q|SORCS1_uc001kyo.3_3'UTR	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	0						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)		TTAGTTCAGTCTGAGGGACAT	0.493000														59			36		0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124745128	124745128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:124745128G>A	uc001qbc.3	+	13	2364	c.2195G>A	c.(2194-2196)aGa>aAa	p.R732K	ROBO3_uc010saq.2_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.2_5'Flank|ROBO3_uc001qbe.3_5'Flank|ROBO3_uc001qbf.1_5'Flank	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	732	Fibronectin type-III 2.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ACTGTGCTAAGAGGACTCCCT	0.587000														62			61		0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31331110	31331110	+	Silent	SNP	A	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:31331110A>C	uc003aje.1	-	19	3029	c.1665T>G	c.(1663-1665)ccT>ccG	p.P555P		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	617							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						CAGCAGGTAAAGGGGGCGACC	0.572000														55			15		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36035968	36035968	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:36035968C>T	uc003jjz.2	-	6	1536	c.1404G>A	c.(1402-1404)gcG>gcA	p.A468A	UGT3A2_uc011cos.2_Silent_p.A434A|UGT3A2_uc011cot.2_Silent_p.A166A	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	468						integral to membrane	glucuronosyltransferase activity	p.A468T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGGTGCGTCGCGCCCCCTG	0.637000														42			12		0	0	1	0	0
HAUS6	54801	broad.mit.edu	37	9	19083038	19083038	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:19083038G>A	uc003znk.3	-	7	956	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	HAUS6_uc011lmz.2_5'UTR|HAUS6_uc022bdv.1_Missense_Mutation_p.R99W|HAUS6_uc003znl.1_Missense_Mutation_p.R99W|HAUS6_uc003znm.1_5'UTR	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA.	235					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						CACAAAGACCGAACCTTTGGA	0.328000														49			20		0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202264134	202264134	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:202264134G>A	uc002uyb.4	-	4	892	c.446C>T	c.(445-447)tCc>tTc	p.S149F	TRAK2_uc002uyc.2_Missense_Mutation_p.S149F	NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	149						early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CTCCTCCAGGGATTCGTTCTG	0.388000														39			14		0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170667965	170667965	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:170667965A>T	uc003mba.3	+	22	2598	c.2456A>T	c.(2455-2457)aAa>aTa	p.K819I	RANBP17_uc003mbb.3_Missense_Mutation_p.K144I|RANBP17_uc003mbd.3_Missense_Mutation_p.K182I|RANBP17_uc010jjs.3_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	819					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCCTCTCAAAAGATCAGATT	0.418000			T	TRD@	ALL									77			37		0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119120848	119120848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:119120848C>T	uc003ecj.4	+	9	1781	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	417					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GAGCAGTGATCGCAGCCATCT	0.647000														139			33		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25264407	25264407	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:25264407C>T	uc003abg.2	+	10	1216	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	SGSM1_uc010guu.1_Silent_p.F353F|SGSM1_uc003abh.2_Silent_p.F353F|SGSM1_uc003abj.2_Silent_p.F353F|SGSM1_uc003abi.1_Silent_p.F328F	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	353						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						CCTTCCGCTTCCCCAAGGGCG	0.652000														105			39		0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086049	56086049	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:56086049G>A	uc010rjf.2	+	0	267	c.267G>A	c.(265-267)aaG>aaA	p.K89K		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	89					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)					TTGTGGATAAGAATATAATTT	0.353000														38			26		0	0	1	0	0
MAP2K1	5604	broad.mit.edu	37	15	66777515	66777515	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:66777515G>A	uc010bhq.3	+	6	1356	c.881G>A	c.(880-882)gGg>gAg	p.G294E	MAP2K1_uc010ujp.2_Missense_Mutation_p.G272E	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA.	294	Pro-rich.|Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|negative regulation of cell proliferation|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|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						AGGACCCCCGGGAGGCCCCTT	0.602000														44			17		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626878	108626878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:108626878C>T	uc002tdv.3	+	8	1580	c.1304C>T	c.(1303-1305)gCc>gTc	p.A435V	SLC5A7_uc010ywm.2_Missense_Mutation_p.A188V|SLC5A7_uc010fjj.3_Missense_Mutation_p.A435V|SLC5A7_uc010ywn.2_Missense_Mutation_p.A322V	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	435					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)	ACCTATGGGGCCGTGGCAGGT	0.488000														55			24		0	0	1	0	0
PPIL4	85313	broad.mit.edu	37	6	149833342	149833342	+	Silent	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:149833342A>G	uc003qmo.2	-	11	1273	c.1176T>C	c.(1174-1176)tgT>tgC	p.C392C		NM_139126	NP_624311	Q8WUA2	PPIL4_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 4 (PPIL4), mRNA.	392					protein folding	nucleus	RNA binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TCTCTTCAGAACAGTGATGGG	0.363000														93			51		0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148932875	148932875	+	RNA	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:148932875G>A	uc010pbc.1	+	1		c.190G>A			LOC645166_uc010pbd.1_Non-coding_Transcript|LOC645166_uc009wkw.1_Non-coding_Transcript					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA.																		GGTGGGAGACGGGTGAGGTAC	0.632000														386			21		0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201185804	201185804	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:201185804C>T	uc001gwc.3	+	15	9648	c.9518C>T	c.(9517-9519)aCc>aTc	p.T3173I	IGFN1_uc001gwb.3_Non-coding_Transcript	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						AGGAAGTATACCTTCCGAGTG	0.642000														95			73		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432295	10432295	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:10432295G>A	uc010coi.3	-	26	3584	c.3456C>T	c.(3454-3456)atC>atT	p.I1152I	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.I1152I|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.	1152					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1151D(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						GCCTCTCGCTGATCTCCTCCA	0.622000														115			55		0	0	1	0	0
ADH5	128	broad.mit.edu	37	4	100006318	100006318	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:100006318G>A	uc003hui.3	-	1	142	c.62C>T	c.(61-63)tCc>tTc	p.S21F	ADH5_uc003huk.1_Missense_Mutation_p.S21F	NM_000671	NP_000662	P11766	ADHX_HUMAN	Homo sapiens alcohol dehydrogenase 5 (class III), chi polypeptide (ADH5), mRNA.	21					ethanol oxidation|response to redox state		S-(hydroxymethyl)glutathione dehydrogenase activity|alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	CTCCTCTATGGAGAGAGGCTT	0.453000														12			7		0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107331532	107331532	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:107331532C>T	uc011lvo.2	+	0	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CAGTTTTCTTCGTTCTAATTT	0.428000														226			71		0	0	1	0	0
ZFAND4	93550	broad.mit.edu	37	10	46121896	46121896	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:46121896G>A	uc001jcp.4	-	6	1617	c.1375C>T	c.(1375-1377)Ctt>Ttt	p.L459F	ZFAND4_uc001jcl.4_5'UTR|ZFAND4_uc001jcm.4_Missense_Mutation_p.L459F|ZFAND4_uc009xmu.3_Missense_Mutation_p.L385F|ZFAND4_uc001jcn.4_Missense_Mutation_p.L385F|ZFAND4_uc001jco.4_Intron	NM_001128324	NP_777550	Q86XD8	ANUB1_HUMAN	Homo sapiens zinc finger, AN1-type domain 4 (ZFAND4), transcript variant 2, mRNA.	459							zinc ion binding										CGGTAGTTAAGAACTGAAGTC	0.458000														154			107		0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130287345	130287345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:130287345G>A	uc004brh.3	-	3	615	c.413C>T	c.(412-414)tCc>tTc	p.S138F	FAM129B_uc004bri.3_Missense_Mutation_p.S125F|FAM129B_uc004brj.4_Missense_Mutation_p.S138F	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	138	PH.						protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						ACCTGGTAAGGAGTTGCCAAT	0.602000														97			40		0	0	1	0	0
NCR3	259197	broad.mit.edu	37	6	31557699	31557699	+	Missense_Mutation	SNP	G	A	A	rs34469029		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:31557699G>A	uc003nuv.2	-	1	512	c.248C>T	c.(247-249)tCc>tTc	p.S83F	NCR3_uc003nuw.2_Missense_Mutation_p.S83F|NCR3_uc003nux.1_Missense_Mutation_p.S83F	NM_147130	NP_667341	O14931	NCTR3_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 3 (NCR3), transcript variant 1, mRNA.	83	Ig-like.				cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity			cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						GAGGAAACGGGAAGAAGCAAG	0.617000														210			75		0	0	1	0	0
TMEM44	93109	broad.mit.edu	37	3	194337856	194337856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:194337856G>A	uc010hzn.3	-	6	1102	c.896C>T	c.(895-897)tCc>tTc	p.S299F	TMEM44_uc010hzm.3_5'Flank|TMEM44_uc021xjc.1_5'UTR|TMEM44_uc003fuc.3_5'UTR|TMEM44_uc003fuf.3_Missense_Mutation_p.S252F|TMEM44_uc003fue.3_Missense_Mutation_p.S252F|TMEM44_uc011bsv.2_Missense_Mutation_p.S252F|TMEM44_uc003fuh.1_Intron	NM_001166305	NP_001159777	Q2T9K0	TMM44_HUMAN	Homo sapiens transmembrane protein 44 (TMEM44), transcript variant 3, mRNA.	299						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		ACGGCCGAGGGAGGTCAGGAA	0.682000														7			5		0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	95021262	95021262	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:95021262G>A	uc004art.1	-	18	2147	c.1890C>T	c.(1888-1890)tcC>tcT	p.S630S	IARS_uc004ars.1_Silent_p.S475S|IARS_uc004aru.3_Silent_p.S630S|IARS_uc010mqr.2_Silent_p.S520S|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	630					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	p.S630T(1)		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)	TCACCACAGGGGAGTTAATCA	0.423000														39			17		0	0	1	0	0
OTOR	56914	broad.mit.edu	37	20	16729070	16729070	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:16729070C>T	uc002wpj.3	+	0	68	c.24C>T	c.(22-24)ttC>ttT	p.F8F		NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	Homo sapiens otoraplin (OTOR), mRNA.	8					sensory perception of sound	extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						TGTTACTTTTCCTCCCGGGTC	0.443000														164			72		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174202	51174202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:51174202G>A	uc021tif.1	-	1	1962	c.1640C>T	c.(1639-1641)tCc>tTc	p.S547F	SALL1_uc021tid.1_Missense_Mutation_p.S547F|SALL1_uc021tie.1_Missense_Mutation_p.S644F|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	644					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.V547V(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)			TGCCGCTGGGGAGCTCAGGAC	0.622000														92			14		0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45234378	45234378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:45234378C>T	uc002ile.4	-	6	870	c.743G>A	c.(742-744)gGa>gAa	p.G248E	CDC27_uc002ild.4_Missense_Mutation_p.G248E|CDC27_uc002ilf.4_Missense_Mutation_p.G248E|CDC27_uc010wkp.2_Missense_Mutation_p.G187E|CDC27_uc010wkq.1_Non-coding_Transcript	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	248					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGTTCCTGTTCCCAGTGGGAC	0.378000														133			7		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229889	21229889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:21229889G>A	uc002red.3	-	25	9979	c.9851C>T	c.(9850-9852)tCc>tTc	p.S3284F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3284					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)	ACCTAGGATGGAGAAACTAGG	0.458000														59			49		0	0	1	0	0
IL23R	149233	broad.mit.edu	37	1	67666433	67666433	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:67666433G>A	uc001ddo.3	+	4	590	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	IL23R_uc009waz.3_5'UTR|IL23R_uc001ddp.2_Non-coding_Transcript|IL23R_uc010opi.2_Non-coding_Transcript|IL23R_uc010opj.2_Intron|IL23R_uc010opk.2_Missense_Mutation_p.E126K|IL23R_uc010opl.2_Intron|IL23R_uc010opm.2_Non-coding_Transcript|IL23R_uc001ddq.3_Intron|IL23R_uc010opn.2_Missense_Mutation_p.E14K|IL23R_uc001ddr.3_Non-coding_Transcript|IL23R_uc010opo.1_Missense_Mutation_p.E28K|IL23R_uc010opp.1_Non-coding_Transcript|IL23R_uc010opq.1_Missense_Mutation_p.E28K|IL23R_uc010opr.1_Non-coding_Transcript|IL23R_uc010oqh.2_Intron|IL23R_uc010oqf.2_Intron|IL23R_uc010ops.2_Intron|IL23R_uc010opt.2_5'UTR|IL23R_uc010opu.2_5'UTR|IL23R_uc010opv.2_Missense_Mutation_p.E28K|IL23R_uc010opw.2_Intron|IL23R_uc010opx.2_Intron|IL23R_uc010opy.2_5'UTR|IL23R_uc010opz.2_Intron|IL23R_uc010oqa.2_5'UTR|IL23R_uc010oqb.2_Missense_Mutation_p.E28K|IL23R_uc010oqc.2_Intron|IL23R_uc010oqd.2_Intron|IL23R_uc010oqe.2_Intron|IL23R_uc010oqg.2_5'UTR	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	Homo sapiens interleukin 23 receptor (IL23R), mRNA.	169	Fibronectin type-III 1.				inflammatory response|negative regulation of interleukin-10 production|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 defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						AGAGACAGAAGAAGAGCAACA	0.383000														115			27		0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261704	39261704	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:39261704G>A	uc010wfp.2	+	0	64	c.64G>A	c.(64-66)Gag>Aag	p.E22K		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	22						keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CCTCTGTCAGGAGACCTGCTG	0.647000														62			21		0	0	1	0	0
ESR1	2099	broad.mit.edu	37	6	152420037	152420037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:152420037C>T	uc010kio.3	+	8	1948	c.1730C>T	c.(1729-1731)tCa>tTa	p.S577L	ESR1_uc003qom.4_Missense_Mutation_p.S575L|ESR1_uc010kin.3_Missense_Mutation_p.S575L|ESR1_uc010kip.3_Missense_Mutation_p.S574L|ESR1_uc003qon.4_Missense_Mutation_p.S575L|ESR1_uc010kir.3_Missense_Mutation_p.S314L|ESR1_uc003qoo.4_Missense_Mutation_p.S575L|ESR1_uc010kiq.3_Missense_Mutation_p.S173L|ESR1_uc021zgz.1_Non-coding_Transcript|ESR1_uc011eeu.2_Non-coding_Transcript|ESR1_uc011eev.2_Missense_Mutation_p.S160L|ESR1_uc011eew.2_3'UTR|ESR1_uc011eet.2_Non-coding_Transcript|ESR1_uc010kis.3_3'UTR|ESR1_uc021zha.1_Missense_Mutation_p.S118L|ESR1_uc011eex.2_Missense_Mutation_p.S250L|ESR1_uc011eey.2_3'UTR	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	575	Interaction with AKAP13.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	GGCTCTACTTCATCGCATTCC	0.602000														47			22		0	0	1	0	0
NTS	4922	broad.mit.edu	37	12	86276074	86276074	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:86276074C>T	uc001tag.3	+	3	543	c.434C>T	c.(433-435)cCt>cTt	p.P145L		NM_006183	NP_006174	P30990	NEUT_HUMAN	Homo sapiens neurotensin (NTS), mRNA.	145					regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity			large_intestine(2)|lung(6)	8						AGAAAAATTCCTTATATTCTG	0.313000														147			52		0	0	1	0	0
ZNF8	7554	broad.mit.edu	37	19	58806335	58806335	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:58806335C>T	uc002qry.1	+	3	1291	c.1161C>T	c.(1159-1161)caC>caT	p.H387H	ZNF8_uc002qrz.3_Non-coding_Transcript	NM_021089	NP_066575	P17098	ZNF8_HUMAN	Homo sapiens zinc finger protein 8 (ZNF8), mRNA.	387					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)		TTTTCCTGCACCTGAGAACTC	0.612000														59			49		0	0	1	0	0
PIK3R2	5296	broad.mit.edu	37	19	18274115	18274115	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:18274115C>T	uc002nia.1	+	10	1845	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	445					T cell costimulation|T cell receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						AGTGGGCGCCCAGCTTAAGGT	0.572000														155			45		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476979	20476979	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:20476979G>A	uc010bwe.3	+	3	557	c.318G>A	c.(316-318)ggG>ggA	p.G106G	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Silent_p.G27G|ACSM2A_uc002dhf.4_Silent_p.G106G|ACSM2A_uc002dhg.4_Silent_p.G106G|ACSM2A_uc010vay.2_Silent_p.G27G	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	106					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.R105R(1)|p.R105G(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGCAGCGTGGGGATCGTGTGG	0.572000														78			8		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1093756	1093756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:1093756C>T	uc001lsx.1	+	31	5590	c.5563C>T	c.(5563-5565)Cct>Tct	p.P1855S		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1939						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)	GTCCTCAACCCCTCAGACCTC	0.617000														450			70		0	0	1	0	0
CCR9	10803	broad.mit.edu	37	3	45943267	45943267	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:45943267G>A	uc003coz.2	+	2	1167	c.987G>A	c.(985-987)gtG>gtA	p.V329V	LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.2_Silent_p.V317V|CCR9_uc003cpa.2_Silent_p.V317V|CCR9_uc021wwv.1_Silent_p.V317V	NM_031200	NP_006632	P51686	CCR9_HUMAN	Homo sapiens chemokine (C-C motif) receptor 9 (CCR9), transcript variant A, mRNA.	329					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		GGGATCTCGTGAAAACCCTGA	0.512000														85			32		0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107380314	107380314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:107380314G>A	uc011lvr.2	-	0	172	c.172C>T	c.(172-174)Cct>Tct	p.P58S		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						AAGTACATAGGGGTGTGAAGG	0.443000														68			26		0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202900792	202900792	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:202900792C>T	uc002uyw.1	+	0	1483	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F		NM_003507	NP_003498	O75084	FZD7_HUMAN	Homo sapiens frizzled family receptor 7 (FZD7), mRNA.	474					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TCGGCGTCTTCAGCGTGCTCT	0.622000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		99			43		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564535	176564535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:176564535G>A	uc001gkz.3	+	2	2959	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K	PAPPA2_uc001gky.1_Missense_Mutation_p.E599K|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	599	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGACCCCGAGTGTGAGCA	0.612000														108			68		0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67323518	67323518	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:67323518C>T	uc002esu.2	-	15	2786	c.2735G>A	c.(2734-2736)aGg>aAg	p.R912K	KCTD19_uc002est.2_Missense_Mutation_p.R684K|KCTD19_uc010vjj.1_Missense_Mutation_p.R655K	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	912						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AGAGACAGACCTAGACAGGCC	0.537000														87			40		0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25419792	25419792	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:25419792C>T	uc003gro.3	+	28	2344	c.2215C>T	c.(2215-2217)Cgt>Tgt	p.R739C	ANAPC4_uc003grp.3_Missense_Mutation_p.R625C|ANAPC4_uc003grq.3_Missense_Mutation_p.R192C	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA.	739					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CTCAAATCTTCGTCATGTGAG	0.328000														137			30		0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85447433	85447433	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:85447433C>T	uc002blg.3	+	6	769	c.567C>T	c.(565-567)gtC>gtT	p.V189V	SLC28A1_uc010upd.1_Silent_p.V111V|SLC28A1_uc010bnb.3_Silent_p.V189V|SLC28A1_uc010upe.2_Silent_p.V189V|SLC28A1_uc010upf.1_Silent_p.V189V|SLC28A1_uc010upg.1_Silent_p.V189V	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	189			V -> I (in A; dbSNP:rs2290272).		nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	p.V189I(1)		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)			GCGTGTTCGTCGCTCTCCTCT	0.592000														180			59		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33928595	33928595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:33928595G>A	uc001zhi.3	+	26	3470	c.3400G>A	c.(3400-3402)Gga>Aga	p.G1134R	RYR3_uc010bar.3_Missense_Mutation_p.G1134R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1134	4 X approximate repeats.|B30.2/SPRY 2.				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)		TTGGCATCAAGGAAGTGGGTA	0.493000														179			61		0	0	1	0	0
DCAF17	80067	broad.mit.edu	37	2	172333454	172333454	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:172333454C>T	uc002ugx.3	+	10	1503	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N	DCAF17_uc010zdq.2_Non-coding_Transcript|DCAF17_uc010zdr.2_Non-coding_Transcript|DCAF17_uc010fqf.2_Intron|DCAF17_uc010fqg.3_Silent_p.N112N	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 17 (DCAF17), transcript variant 1, mRNA.	392						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						ACAGGGAGAACCATAAAGTAA	0.313000														37			13		0	0	1	0	0
MEST	4232	broad.mit.edu	37	7	130138042	130138042	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:130138042G>A	uc003vqg.3	+	4	658	c.402G>A	c.(400-402)ctG>ctA	p.L134L	MEST_uc003vqc.3_Silent_p.L125L|MEST_uc003vqd.3_Silent_p.L125L|MEST_uc022alp.1_Silent_p.L125L|MEST_uc003vqf.3_Silent_p.L125L|MEST_uc011kph.2_Silent_p.L120L	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	Homo sapiens mesoderm specific transcript homolog (mouse) (MEST), transcript variant 1, mRNA.	134					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					TGCGGCATCTGGGGCTCCAGA	0.493000														393			138		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17696505	17696505	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:17696505C>T	uc002rcl.1	-	0	3202	c.3178G>A	c.(3178-3180)Gaa>Aaa	p.E1060K	RAD51AP2_uc010exn.1_Missense_Mutation_p.E1051K	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	1060										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)					TTAGGAACTTCCTGTTCTCCA	0.348000														28			15		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167085202	167085202	+	Splice_Site	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:167085202A>G	uc010fpl.3	-	22	4514	c.4173_splice	c.e22+1	p.V1391_splice	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1402						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)	GACACTTACAACTTGAAGCAG	0.313000														148			58		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854280	12854280	+	Missense_Mutation	SNP	C	A	A	rs2790782	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:12854280C>A	uc001auj.2	+	2	607	c.504C>A	c.(502-504)ttC>ttA	p.F168L		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	168										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)		GATACCTCTTCCAGTGGGTTT	0.443000														434			31		2.02627e-32	2.05376e-32	1	1	0
ABCA12	26154	broad.mit.edu	37	2	215875108	215875108	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:215875108C>T	uc002vew.3	-	17	2639	c.2419G>A	c.(2419-2421)Gga>Aga	p.G807R	ABCA12_uc002vev.3_Missense_Mutation_p.G489R|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.	807					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)		AAAATTCTTCCCAACAACATA	0.368000														65			14		0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47775871	47775871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:47775871C>T	uc022bvq.1	+	4	2075	c.1826C>T	c.(1825-1827)cCa>cTa	p.P609L	ZNF81_uc010nhy.2_Missense_Mutation_p.P609L	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	609						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GGGGAGAAACCATATATATGT	0.388000														24			13		0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34960955	34960955	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:34960955G>A	uc004ddi.2	+	0	43	c.7G>A	c.(7-9)Gac>Aac	p.D3N		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	3										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						CACCATGGGGGACCGGAGGCC	0.627000														13			7		0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123239450	123239450	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:123239450G>A	uc021pzz.1	-	17	3034	c.2387C>T	c.(2386-2388)tCt>tTt	p.S796F	FGFR2_uc021pzv.1_Missense_Mutation_p.S684F|FGFR2_uc021pzw.1_Missense_Mutation_p.S681F|FGFR2_uc021pzx.1_Intron|FGFR2_uc021pzy.1_Missense_Mutation_p.S797F|FGFR2_uc010qtl.2_Missense_Mutation_p.S680F|FGFR2_uc010qtm.2_Missense_Mutation_p.S679F|FGFR2_uc001lfg.4_Missense_Mutation_p.S404F|FGFR2_uc001lfk.1_Non-coding_Transcript	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	796					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	AGAAAAAACAGAATCATCTCC	0.458000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					71			47		0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4842709	4842710	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:4842709_4842710CC>TT	uc010qyn.2	+	0	94_95	c.94_95CC>TT	c.(94-96)cca>TTa	p.P32L		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P32Q(4)		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)		GATGGGCATTCCAGGCCTGAAA	0.470000														232			47		0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45711524	45711524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:45711524C>T	uc001wwf.3	-	3	1315	c.856G>A	c.(856-858)Gag>Aag	p.E286K	MIS18BP1_uc010anh.2_Non-coding_Transcript	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA.	286					CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CTGAGAGTCTCAGCATTAGTA	0.368000														114			50		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120973834	120973834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:120973834G>A	uc003eec.4	+	15	1674	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	STXBP5L_uc011bji.2_Missense_Mutation_p.E512K	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	512					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)		AATTGTAGAGGAAGACCCATT	0.363000														87			26		0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52860987	52860987	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:52860987G>A	uc003gzi.3	-	3	2208	c.2201C>T	c.(2200-2202)tCc>tTc	p.S734F		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	734						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						GTCCTGCAGGGACTCCTCATC	0.507000														100			22		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200973971	200973971	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:200973971C>T	uc001gvs.2	-	5	1140	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	KIF21B_uc009wzl.2_Missense_Mutation_p.A275T|KIF21B_uc001gvr.2_Missense_Mutation_p.A275T|KIF21B_uc010ppn.2_Missense_Mutation_p.A275T|KIF21B_uc001gvt.1_Missense_Mutation_p.A58T	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	275	Kinesin-motor.				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						TCTGAGCCGGCCAGGTCCACA	0.592000														91			34		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41725649	41725649	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:41725649G>A	uc002yyq.1	-	4	1129	c.677C>T	c.(676-678)tCc>tTc	p.S226F	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.	226	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	p.S226S(1)		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)				ATCCAGTATGGATGGGGCTGA	0.512000														14			9		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197026446	197026446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:197026446C>T	uc001gtt.1	-	5	999	c.955G>A	c.(955-957)Gga>Aga	p.G319R		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	319	Sushi 5.				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						GTCCATTTTCCATCTTCACAA	0.358000														69			21		0	0	1	0	0
DBX2	440097	broad.mit.edu	37	12	45417530	45417530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:45417530C>T	uc001rok.1	-	2	819	c.647G>A	c.(646-648)cGa>cAa	p.R216Q		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	216						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		AAGTTTCTTTCGGTCTGTTTT	0.413000														306			78		0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133041196	133041196	+	Silent	SNP	C	T	T	rs35224977	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:133041196C>T	uc003vrk.3	+	5	911	c.876C>T	c.(874-876)atC>atT	p.I292I	EXOC4_uc011kpo.2_Silent_p.I191I|EXOC4_uc003vri.3_Silent_p.I292I|EXOC4_uc003vrj.3_Silent_p.I292I	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	292					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)				TGAAGAAGATCCCAGAAACAG	0.473000														39			18		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141250219	141250219	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:141250219C>T	uc002tvj.1	-	56	10050	c.9078G>A	c.(9076-9078)agG>agA	p.R3026R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3026					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)		TGCTAATTTTCCTTATCTCAT	0.353000										TSP Lung(27;0.18)				93			39		0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60574056	60574056	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:60574056G>A	uc002ybs.3	-	11	2896	c.2896C>T	c.(2896-2898)Ctg>Ttg	p.L966L		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	966					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GCCCTCATCAGGATCTCCCGC	0.557000														385			163		0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216544	111216544	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:111216544G>A	uc001dzv.1	-	0	1112	c.888C>T	c.(886-888)ttC>ttT	p.F296F		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	296						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTCCACCACGAAGAAGGGAT	0.597000														223			40		0	0	1	0	0
CLEC17A	388512	broad.mit.edu	37	19	14710921	14710921	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:14710921C>T	uc010dzn.2	+	11	898	c.821C>T	c.(820-822)tCa>tTa	p.S274L	CLEC17A_uc010dzo.2_Missense_Mutation_p.S274L|CLEC17A_uc002mzh.2_Missense_Mutation_p.S257L|CLEC17A_uc010xnt.2_Non-coding_Transcript|CLEC17A_uc010xnu.2_Intron	NM_001204118	NP_001191047	Q6ZS10	CL17A_HUMAN	Homo sapiens C-type lectin domain family 17, member A (CLEC17A), transcript variant 1, mRNA.	274	C-type lectin.					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										AGCACCAAGTCATGGGATGAG	0.522000														108			27		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57611094	57611094	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:57611094G>A	uc009vzx.1	-	2	396	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C	DAB1_uc001cyt.1_Missense_Mutation_p.R26C|DAB1_uc001cyq.1_Missense_Mutation_p.R26C|DAB1_uc001cyr.1_Missense_Mutation_p.R26C|DAB1_uc009vzw.1_Missense_Mutation_p.R26C|DAB1_uc001cys.1_Missense_Mutation_p.R26C	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	26					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GCTTCACTGCGATCCTGACCT	0.458000														69			26		0	0	1	0	0
UTP14A	10813	broad.mit.edu	37	X	129053176	129053176	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:129053176T>G	uc004euz.3	+	6	653	c.563T>G	c.(562-564)aTt>aGt	p.I188S	UTP14A_uc011mup.2_Missense_Mutation_p.I136S|UTP14A_uc011muq.2_Missense_Mutation_p.I134S|UTP14A_uc004eva.1_5'Flank	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) (UTP14A), transcript variant 1, mRNA.	188					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						GAGCAGGAAATTTTCAACCTC	0.458000														136			80		0	0	1	0	0
TRA	0	broad.mit.edu	37	14	22181016	22181016	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:22181016C>T	uc021roz.1	+	1	296	c.288C>T	c.(286-288)atC>atT	p.I96I						Homo sapiens mRNA for T cell receptor alpha variable 2, partial cds, clone: SEB 280.																		CGCTGCTCATCCTCCAGGTGC	0.527000														107			44		0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122758411	122758411	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:122758411T>G	uc004etu.3	-	25	3199	c.3167A>C	c.(3166-3168)gAt>gCt	p.D1056A	THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_5'Flank	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1056					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TGTGGCTCTATCACTATGCCA	0.358000														76			69		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26164563	26164563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:26164563G>A	uc003abz.1	+	3	930	c.680G>A	c.(679-681)gGa>gAa	p.G227E	MYO18B_uc003aca.1_Missense_Mutation_p.G108E|MYO18B_uc010guy.1_Missense_Mutation_p.G108E|MYO18B_uc010guz.1_Missense_Mutation_p.G108E|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	227						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.G227E(2)		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						CCAGGCCAAGGAACTGTGGCA	0.617000														24			9		0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53189737	53189737	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:53189737G>A	uc001say.3	-	0	156	c.90C>T	c.(88-90)agC>agT	p.S30S		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	30	Gly-rich.|Head.				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						GGGCCACACAGCTCATCCTGC	0.647000														100			38		0	0	1	0	0
LMX1B	4010	broad.mit.edu	37	9	129458605	129458605	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:129458605G>A	uc011maa.2	+	7	1103	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N	LMX1B_uc004bqi.3_Missense_Mutation_p.D355N|LMX1B_uc004bqj.3_Missense_Mutation_p.D362N	NM_001174146	NP_001167617	O60663	LMX1B_HUMAN	Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.	339					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CATCGACAGCGATACCTCCTT	0.652000									Nail-Patella Syndrome					220			84		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33335750	33335750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:33335750G>A	uc021vft.1	+	3	988	c.965G>A	c.(964-966)gGa>gAa	p.G322E		NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	322					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)				GGGATTTCAGGAGAGCAGTCC	0.488000														124			53		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107170360	107170360	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:107170360C>T	uc021ser.1	-	42		c.2606G>A								Parts of antibodies, mostly variable regions.																		CCTCCAGGTCCAGTCCATGGT	0.483000														71			23		0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30068238	30068238	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:30068238G>A	uc001wqh.3	-	14	2342	c.2161C>T	c.(2161-2163)Cct>Tct	p.P721S	MIR548AI_uc021rrv.1_Intron	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	Homo sapiens protein kinase D1 (PRKD1), mRNA.	721	Protein kinase.				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)		CTTGCCTGAGGAAAAGGATCA	0.423000														57			26		0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78191759	78191759	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:78191759A>T	uc001vki.3	+	24	1647	c.1477A>T	c.(1477-1479)Aag>Tag	p.K493*	SCEL_uc010thx.2_Nonsense_Mutation_p.K451*|SCEL_uc001vkj.3_Nonsense_Mutation_p.K473*	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	493	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	p.K493N(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TAAACTCATCAAGGTGAATCC	0.284000														20			6		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097833	167097833	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:167097833G>A	uc001geb.1	+	4	3481	c.3465G>A	c.(3463-3465)agG>agA	p.R1155R		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	1155					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						TGCAGAAAAGGAGGGAGGACT	0.527000														62			16		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39881440	39881440	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:39881440G>A	uc001zkh.3	+	11	1990	c.1811G>A	c.(1810-1812)gGa>gAa	p.G604E	THBS1_uc010bbi.3_Missense_Mutation_p.G76E	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	604	EGF-like 2; calcium-binding (Potential).				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)	AACCACAATGGAGAGCACCGG	0.572000														181			86		0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2226942	2226942	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:2226942C>T	uc002lvc.1	+	12	3071	c.2304C>T	c.(2302-2304)ttC>ttT	p.F768F	DOT1L_uc002lvb.4_Silent_p.F1474F	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	1474						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		GACCGCAGTTCGCGCTCGGCC	0.776000														49			22		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599283	136599283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:136599283G>A	uc003qgx.1	-	3	989	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	BCLAF1_uc003qgy.1_Missense_Mutation_p.P244S|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.P244S|BCLAF1_uc003qgw.1_Missense_Mutation_p.P246S	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	246					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)		CTGAGCATGGGAGCATCAGAG	0.453000														79			8		0	0	1	0	0
AANAT	15	broad.mit.edu	37	17	74464834	74464834	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:74464834C>T	uc021udg.1	+	4	1148	c.141C>T	c.(139-141)tcC>tcT	p.S47S	AANAT_uc002jro.3_Silent_p.S2S|AANAT_uc010wte.2_Non-coding_Transcript	NM_001166579	NP_001079	Q16613	SNAT_HUMAN	Homo sapiens aralkylamine N-acetyltransferase (AANAT), transcript variant 1, mRNA.	2	N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity			lung(1)	1						CCAGAATGTCCACGCAGAGCA	0.657000														28			7		0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45829063	45829063	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:45829063G>A	uc002rus.3	-	2	316	c.240C>T	c.(238-240)gtC>gtT	p.V80V		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	80	Poly-Val.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TAACAACAACGACTTCTGAGC	0.483000														219			59		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77998513	77998513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:77998513C>T	uc003ugx.3	-	6	1317	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	MAGI2_uc003ugy.3_Missense_Mutation_p.E355K|MAGI2_uc010ldx.1_5'UTR|MAGI2_uc010ldy.1_5'UTR|MAGI2_uc011kgr.1_Missense_Mutation_p.E187K|MAGI2_uc011kgs.1_Missense_Mutation_p.E192K	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	355	Interaction with DDN.|WW 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCGATTTTTTCCCAGCCATAT	0.259000														54			24		0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70466338	70466338	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:70466338G>A	uc004dzh.2	-	14	2616	c.2437C>T	c.(2437-2439)Ccc>Tcc	p.P813S	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.P813S|ZMYM3_uc004dzj.2_Missense_Mutation_p.P801S	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	813					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GGAGCAGTGGGAGCTGATCGG	0.587000														5			3		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117061531	117061531	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:117061531G>A	uc001lcg.3	+	16	3182	c.2796G>A	c.(2794-2796)gaG>gaA	p.E932E	ATRNL1_uc010qsm.2_Silent_p.E107E|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	932	PSI 4.					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)		AATGTCTAGAGTGGCAAACTG	0.393000														32			19		0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24580798	24580798	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:24580798C>T	uc002zzn.1	+	4	716	c.672C>T	c.(670-672)atC>atT	p.I224I		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	224					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CCACACACATCCCCAACTCCG	0.567000														62			36		0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6265277	6265277	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:6265277G>A	uc001mco.3	+	5	1481	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K	CNGA4_uc010raa.2_3'UTR|CNGA4_uc001mcn.3_3'UTR	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	456					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGCTGAGCGAGTATCCACA	0.537000														76			44		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36893308	36893308	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:36893308G>A	uc003cgj.3	-	13	4905	c.4657C>T	c.(4657-4659)Cca>Tca	p.P1553S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1553					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						AGCTCTTCTGGAATTTTCTCC	0.383000														13			5		0	0	1	0	0
COQ2	27235	broad.mit.edu	37	4	84193263	84193263	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:84193263G>A	uc003hog.3	-	3	755	c.755C>T	c.(754-756)tCa>tTa	p.S252L	COQ2_uc011ccp.2_Non-coding_Transcript|COQ2_uc003hof.3_Non-coding_Transcript	NM_015697	NP_056512	Q96H96	COQ2_HUMAN	Homo sapiens coenzyme Q2 homolog, prenyltransferase (yeast) (COQ2), nuclear gene encoding mitochondrial protein, mRNA.	202					glycerol metabolic process|isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrial membrane	4-hydroxybenzoate decaprenyltransferase activity|4-hydroxybenzoate nonaprenyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				AGGCCAGTATGAAATTCTTTT	0.363000														13			3		0	0	1	0	0
TRAF1	7185	broad.mit.edu	37	9	123675969	123675969	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:123675969G>A	uc004bku.2	-	4	914	c.342C>T	c.(340-342)tcC>tcT	p.S114S	TRAF1_uc011lyg.2_5'UTR|TRAF1_uc010mvl.2_Silent_p.S114S	NM_005658	NP_001177876	Q13077	TRAF1_HUMAN	Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA.	114					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						GGTTTAGGTGGGAGGTCTGGG	0.597000														117			43		0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323920	29323920	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:29323920G>A	uc011dlo.2	-	0	135	c.53C>T	c.(52-54)tCc>tTc	p.S18F		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	18					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						ATTTAGGTTGGAGAATCCCAA	0.363000														51			22		0	0	1	0	0
ZDHHC13	54503	broad.mit.edu	37	11	19169202	19169202	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:19169202C>T	uc001mpi.3	+	3	461	c.356C>T	c.(355-357)cCt>cTt	p.P119L	ZDHHC13_uc001mpj.3_5'UTR|Mir_340_uc021qes.1_5'Flank	NM_019028	NP_001001483	Q8IUH4	ZDH13_HUMAN	Homo sapiens zinc finger, DHHC-type containing 13 (ZDHHC13), transcript variant 1, mRNA.	119					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						AATTCAACTCCTCTTCACTGG	0.348000														10			5		0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157773789	157773789	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:157773789G>A	uc001frg.3	-	2	278	c.165C>T	c.(163-165)ttC>ttT	p.F55F	FCRL1_uc001frf.3_5'Flank|FCRL1_uc001frh.3_Silent_p.F55F|FCRL1_uc001fri.3_Silent_p.F55F|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	55	Ig-like C2-type 1.					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)			GGGTGTCTCTGAAAAAGCAGA	0.592000														116			38		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	87066088	87066088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:87066088C>T	uc002blz.1	+	17	2545	c.2465C>T	c.(2464-2466)tCt>tTt	p.S822F		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	822					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CAATGGCTTTCTCCCAGTGCT	0.468000														99			44		0	0	1	0	0
NEGR1	257194	broad.mit.edu	37	1	72241978	72241978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:72241978G>A	uc001dfw.3	-	2	640	c.412C>T	c.(412-414)Cct>Tct	p.P138S	NEGR1_uc001dfv.3_Missense_Mutation_p.P10S|NEGR1_uc010oqs.2_Missense_Mutation_p.P138S	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.	138					cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		ATCTTAGGAGGAACTGAAATG	0.353000														17			5		0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100128614	100128614	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:100128614G>A	uc003huo.2	-	6	1047	c.953C>T	c.(952-954)tCt>tTt	p.S318F	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_Missense_Mutation_p.S109F|ADH6_uc003hup.4_Missense_Mutation_p.S318F|ADH6_uc010ile.3_Intron	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	318					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TCCAAAAACAGAACCCTTCAA	0.463000														64			12		0	0	1	0	0
RASA1	5921	broad.mit.edu	37	5	86679577	86679577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:86679577G>A	uc003kiw.3	+	20	2937	c.2738G>A	c.(2737-2739)cGg>cAg	p.R913Q	RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_Missense_Mutation_p.R736Q|RASA1_uc011ctv.2_Missense_Mutation_p.R746Q|RASA1_uc011ctw.2_Missense_Mutation_p.R747Q|RASA1_uc010jaw.3_Missense_Mutation_p.R735Q	NM_002890	NP_002881	P20936	RASA1_HUMAN	Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA.	913	Ras-GAP.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of Ras protein signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|regulation of RNA metabolic process|regulation of actin filament polymerization|regulation of cell shape|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	GTPase binding|Ras GTPase activator activity|glycoprotein binding|potassium channel inhibitor activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CTGAATCCACGGATGTTCAAT	0.294000														15			10		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42113890	42113890	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:42113890C>T	uc001zok.4	+	24	3131	c.2845C>T	c.(2845-2847)Ccc>Tcc	p.P949S	MAPKBP1_uc010bci.3_Missense_Mutation_p.P943S|MAPKBP1_uc010udb.2_Missense_Mutation_p.P782S|MAPKBP1_uc001zoj.4_Missense_Mutation_p.P943S|MAPKBP1_uc010bcj.3_Missense_Mutation_p.P450S|MAPKBP1_uc010bck.3_Missense_Mutation_p.P160S|MAPKBP1_uc010bcl.3_Missense_Mutation_p.P450S	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	949										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)		GGAACCTGCACCCATTGAAGA	0.567000														138			62		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21048078	21048078	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:21048078C>T	uc010vbe.2	-	34	5043	c.5043G>A	c.(5041-5043)atG>atA	p.M1681I		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1681	AAA 2 (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)		GCTGGAGTTTCATCTTTTTGA	0.368000														56			34		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62289207	62289207	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:62289207G>A	uc003xuh.3	+	2	823	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	CLVS1_uc003xug.2_Nonsense_Mutation_p.W165*|CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	167	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GCTGTCATTGGAAGTCCTAAT	0.443000														68			28		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45949818	45949818	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:45949818A>T	uc002zfe.1	-	4	719	c.653T>A	c.(652-654)gTc>gAc	p.V218D	TSPEAR_uc010gpv.1_Missense_Mutation_p.V150D	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	218	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CGGCAGCAGGACCAGTTGCCT	0.692000														32			8		0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89848400	89848400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:89848400C>T	uc010bnp.1	+	28	3203	c.3113C>T	c.(3112-3114)tCg>tTg	p.S1038L	FANCI_uc002bnm.1_Missense_Mutation_p.S978L|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Missense_Mutation_p.S799L|FANCI_uc002bnq.1_Missense_Mutation_p.S451L	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	1038					DNA repair|cell cycle	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CTGCATGTTTCGTATAAGAGT	0.438000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					157			80		0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46916462	46916463	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:46916462_46916463AC>TT	uc002zhi.3	+	28	3118_3119	c.3097_3098AC>TT	c.(3097-3099)act>TTt	p.T1033F	COL18A1_uc002zhg.3_Missense_Mutation_p.T853F	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1268	Nonhelical region 4 (NC4).				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)		CCCTCCAGGGACTCCTGTTTAC	0.644000														137			49		0	0	1	0	0
LOC440563	440563	broad.mit.edu	37	1	13183577	13183577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:13183577C>T	uc010obg.2	-	1	539	c.296G>A	c.(295-297)cGa>cAa	p.R99Q		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	99						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										CGCTGCGGATCGTTTCACACC	0.502000														68			18		0	0	1	0	0
VSTM2L	128434	broad.mit.edu	37	20	36560103	36560103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:36560103C>T	uc002xhk.4	+	1	442	c.188C>T	c.(187-189)tCc>tTc	p.S63F		NM_080607	NP_542174	Q96N03	VTM2L_HUMAN	Homo sapiens V-set and transmembrane domain containing 2 like (VSTM2L), mRNA.	63	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				ATGGCCTGCTCCTTCCGCGGC	0.642000														220			101		0	0	1	0	0
CLDN25	644672	broad.mit.edu	37	11	113650778	113650778	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:113650778C>T	uc009yyw.1	+	0	261	c.261C>T	c.(259-261)tcC>tcT	p.S87S		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	Homo sapiens claudin 25 (CLDN25), mRNA.	87						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						TGGTAGCCTCCCATGGGCTGG	0.567000														163			114		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90078157	90078157	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:90078157C>T	uc010yts.2	+	23		c.2773C>T								Parts of antibodies, mostly variable regions.																		GGCCTGGCGCCCAGGCTCCTC	0.587000														37			47		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30973992	30973992	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:30973992G>A	uc021vfn.1	-	9	1245	c.1213C>T	c.(1213-1215)Cca>Tca	p.P405S	CAPN13_uc021vfm.1_Missense_Mutation_p.P405S|CAPN13_uc002rnp.1_Missense_Mutation_p.P405S	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	405					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.P405S(2)		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)					AAATCGAGTGGAAATTTTGCA	0.463000														35			17		0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40772475	40772476	+	Missense_Mutation	DNP	CC	TT	TT	rs142990728		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:40772475_40772476CC>TT	uc004abs.2	-	4	2951_2952	c.2799_2800GG>AA	c.(2797-2802)acgggg>acAAgg	p.G934R	ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.G934R	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G934V(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGTTTCTCCCCCGTATGAACTC	0.436000														196			71		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169581587	169581587	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:169581587G>A	uc001ggi.4	-	5	894	c.829C>T	c.(829-831)Cat>Tat	p.H277Y	SELP_uc001ggh.3_Missense_Mutation_p.H112Y|SELP_uc009wvr.3_Missense_Mutation_p.H277Y	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	277	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	p.H277N(2)		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)	TTTGCAGAATGAAGGCAGGTC	0.488000														53			38		0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159898714	159898714	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:159898714C>T	uc001fur.2	-	18	2662	c.2464G>A	c.(2464-2466)Gat>Aat	p.D822N	IGSF9_uc001fuq.2_Missense_Mutation_p.D806N|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	822						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)			CCGGCAGGATCCCCCCAGAGC	0.672000														23			10		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200960046	200960046	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:200960046G>A	uc001gvs.2	-	18	3004	c.2687_splice	c.e18+1	p.R896_splice	KIF21B_uc009wzl.2_Splice_Site_p.R896_splice|KIF21B_uc001gvr.2_Splice_Site_p.R896_splice|KIF21B_uc010ppn.2_Splice_Site_p.R896_splice	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	896					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R896R(1)		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						CCACCTTACCGGGCAGGACGG	0.647000														115			61		0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059118	248059118	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:248059118C>T	uc010pzb.2	+	0	230	c.230C>T	c.(229-231)tCc>tTc	p.S77F	OR2W3_uc001idp.1_Missense_Mutation_p.S77F	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	77					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)			ACCACCAGCTCCATCCCCCAG	0.577000														177			116		0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6732083	6732083	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:6732083G>A	uc002mfp.3	-	12	1255	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F	GPR108_uc010duv.3_5'UTR	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA.	403						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GGTCCACCAGGAACAAAATCT	0.642000														59			33		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38934370	38934370	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:38934370C>T	uc002oit.3	+	4	488	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F	RYR1_uc002oiu.3_Missense_Mutation_p.L120F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	120	MIR 1.				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)	TCTGAGCTGCCTCACCACCTC	0.632000														75			31		0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863714	55863714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:55863714G>A	uc010spn.2	-	0	209	c.209C>T	c.(208-210)tCa>tTa	p.S70L		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						AGTTGTGAATGAAATTTCCAG	0.388000														59			23		0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16597450	16597450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:16597450C>T	uc003goz.3	-	2	600	c.284G>A	c.(283-285)gGa>gAa	p.G95E	LDB2_uc003gpa.3_Missense_Mutation_p.G95E|LDB2_uc011bxh.2_Missense_Mutation_p.G95E|LDB2_uc003gpb.3_Missense_Mutation_p.G95E|LDB2_uc010iee.3_Missense_Mutation_p.G95E|LDB2_uc011bxi.2_5'UTR	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	95							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GGTCACCCCTCCTTCAAACAC	0.493000														22			5		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10358002	10358002	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:10358002G>A	uc002gmn.3	-	21	2672	c.2561C>T	c.(2560-2562)gCc>gTc	p.A854V	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	854					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.M853I(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTCATGTTGGCCATCTCCTT	0.448000														78			40		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22663112	22663112	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:22663112C>T	uc021wml.1	+	30		c.2470C>T			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		TGGATAAATCCATAAAAATTG	0.289000														23			6		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42719193	42719193	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:42719193C>T	uc021xxv.1	+	9	1742	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F	GHR_uc003jmt.3_Silent_p.F528F|GHR_uc003jmu.3_Silent_p.F528F|GHR_uc003jmv.2_Silent_p.F528F|GHR_uc021xxw.1_Silent_p.F528F|GHR_uc021xxx.1_Silent_p.F528F|GHR_uc021xxy.1_Silent_p.F528F|GHR_uc021xxz.1_Silent_p.F528F|GHR_uc021xya.1_Silent_p.F528F|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Silent_p.F341F|GHR_uc021xyd.1_Silent_p.F506F	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	528					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)	AAGAAAACTTCCTTATGGACA	0.498000														53			11		0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124252919	124252919	+	Silent	SNP	G	A	A	rs2320234	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:124252919G>A	uc010sai.2	-	0	321	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F107F(2)|p.F106L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CAGAGATGACGAAAAAGAGAA	0.398000														43			19		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64678165	64678165	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:64678165C>T	uc001obx.3	-	11	1745	c.1630G>A	c.(1630-1632)Ggt>Agt	p.G544S		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	544							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CCCAGCGTACCAGGAAAGGTC	0.667000														13			10		0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31138079	31138079	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:31138079G>A	uc010qdz.2	-	6	1690	c.1255C>T	c.(1255-1257)Ccc>Tcc	p.P419S	ZNF438_uc001ivn.3_Missense_Mutation_p.P370S|ZNF438_uc010qdy.2_Missense_Mutation_p.P409S|ZNF438_uc001ivo.4_5'UTR|ZNF438_uc009xlg.3_Missense_Mutation_p.P419S|ZNF438_uc001ivp.4_Missense_Mutation_p.P409S|ZNF438_uc010qea.2_Missense_Mutation_p.P419S|ZNF438_uc010qeb.2_Missense_Mutation_p.P419S|ZNF438_uc010qec.1_5'UTR	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P419S(2)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				AATTCTTGGGGATCATTTTTT	0.403000														56			25		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522461	23522461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:23522461G>A	uc003jgo.3	+	6	739	c.557G>A	c.(556-558)aGa>aAa	p.R186K		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	186					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTGCGAGAAAGAAAGGGTCAT	0.473000										HNSCC(3;0.000094)				142			39		0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124457714	124457714	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:124457714C>T	uc001lgn.3	-	2	575	c.543G>A	c.(541-543)caG>caA	p.Q181Q		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	181										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)				AGGGTAAAGGCTGATGATTTC	0.502000														95			60		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45726174	45726174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:45726174G>A	uc003tne.4	+	13	2374	c.2356G>A	c.(2356-2358)Gag>Aag	p.E786K		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	786					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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GCGCAGCTACGAGCCGATTGT	0.632000														101			15		0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735717	55735717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:55735717C>T	uc010rit.2	-	0	223	c.223G>A	c.(223-225)Gac>Aac	p.D75N		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	75					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)					GTCCAAATGTCCATGAGCATT	0.383000														69			41		0	0	1	0	0
SELRC1	65260	broad.mit.edu	37	1	53153720	53153720	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:53153720A>C	uc001cui.2	-	2	408	c.368T>G	c.(367-369)gTt>gGt	p.V123G		NM_023077	NP_075565	Q96BR5	SELR1_HUMAN	Homo sapiens Sel1 repeat containing 1 (SELRC1), mRNA.	123							binding			breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						ATCCTCATTAACCTGTCCATC	0.527000														107			44		0	0	1	0	0
TSHB	7252	broad.mit.edu	37	1	115576718	115576718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:115576718C>T	uc001efs.1	+	2	355	c.287C>T	c.(286-288)tCc>tTc	p.S96F		NM_000549	NP_000540	P01222	TSHB_HUMAN	Homo sapiens thyroid stimulating hormone, beta (TSHB), mRNA.	96					G-protein coupled receptor protein signaling pathway|anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|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)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CCCTATTTTTCCTATCCTGTT	0.433000														147			108		0	0	1	0	0
BSND	7809	broad.mit.edu	37	1	55474209	55474209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:55474209G>A	uc001cye.3	+	3	1114	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA.	291						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						ACCTGAGAAGGAAGAGGAAGA	0.587000														88			31		0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110033550	110033550	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:110033550C>T	uc001dxr.3	+	9	1380	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	ATXN7L2_uc001dxs.3_Silent_p.I82I	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	455										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)		GCAGGAAGATCCCACCGGCAG	0.572000											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		495			94		0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389381	20389381	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:20389381C>T	uc010tkw.2	+	0	616	c.616C>T	c.(616-618)Ctt>Ttt	p.L206F		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAGTGGAATTCTTTCCCTAAG	0.408000														187			32		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176863760	176863760	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:176863760G>A	uc001glc.3	-	16	3090	c.2878C>T	c.(2878-2880)Ctg>Ttg	p.L960L	ASTN1_uc001glb.1_Silent_p.L960L|ASTN1_uc001gld.1_Silent_p.L960L	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	968					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						ACCTCCAGCAGAACCGGCTCA	0.612000														115			40		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90084058	90084058	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:90084058C>T	uc003kju.3	+	67	13920	c.13824C>T	c.(13822-13824)ttC>ttT	p.F4608F	GPR98_uc003kjt.3_Silent_p.F2314F|GPR98_uc003kjw.3_Silent_p.F269F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4608	Calx-beta 31.				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)		AAGAGACATTCATTATTAAAC	0.358000														34			13		0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59791096	59791096	+	Missense_Mutation	SNP	C	T	T	rs150648068		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:59791096C>T	uc001xdz.1	+	7	1038	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C	DAAM1_uc001xea.1_Missense_Mutation_p.R305C|DAAM1_uc001xeb.1_Missense_Mutation_p.R305C	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.	305	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		ACTTCATCTTCGCTATGAATT	0.284000														101			35		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179452410	179452410	+	Missense_Mutation	SNP	C	T	T	rs148684589	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:179452410C>T	uc021vsy.1	-	254	56147	c.55922G>A	c.(55921-55923)cGa>cAa	p.R18641Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R12336Q|TTN_uc021vta.1_Missense_Mutation_p.R12269Q|TTN_uc021vtb.1_Missense_Mutation_p.R12144Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19568	Fibronectin type-III 35.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P18640P(1)|p.E18641K(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)			GCCAACTTTTCGCCAAGTGAC	0.478000														22			13		0	0	1	0	0
ITFG1	81533	broad.mit.edu	37	16	47462722	47462722	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:47462722A>C	uc002eet.3	-	5	707	c.648T>G	c.(646-648)ttT>ttG	p.F216L	ITFG1_uc010vgh.2_Missense_Mutation_p.F103L	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 1 (ITFG1), mRNA.	216						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CACCTGCTGTAAAATCTTCAG	0.318000														70			11		0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247769	56247769	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:56247769C>T	uc010wnp.2	+	0	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CCATGATCTTCGTTCCAAGCA	0.537000														181			60		0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116325089	116325090	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:116325089_116325090GG>AA	uc003pwi.1	-	1	863_864	c.416_417CC>TT	c.(415-417)tcc>tTT	p.S139F		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	139	SH2.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.G138R(1)		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)		TGATTAGAAAGGAACCGGTCTT	0.366000														16			8		0	0	1	0	0
PRRG1	5638	broad.mit.edu	37	X	37312440	37312440	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:37312440G>A	uc004ddn.3	+	4	476	c.223G>A	c.(223-225)Gga>Aga	p.G75R	PRRG1_uc004ddo.3_Missense_Mutation_p.G75R|PRRG1_uc022buu.1_Missense_Mutation_p.G75R|PRRG1_uc022buv.1_Missense_Mutation_p.G75R	NM_000950	NP_001166961	O14668	TMG1_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 1 (PRRG1), transcript variant 1, mRNA.	75						extracellular region|integral to plasma membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						GAGTAACCGAGGAAGTGACTG	0.373000														18			16		0	0	1	0	0
FASTKD1	79675	broad.mit.edu	37	2	170411657	170411657	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:170411657C>T	uc002uev.4	-	6	1579	c.1191G>A	c.(1189-1191)gcG>gcA	p.A397A	FASTKD1_uc002uew.4_Non-coding_Transcript|FASTKD1_uc002uex.4_Silent_p.A383A	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	Homo sapiens FAST kinase domains 1 (FASTKD1), mRNA.	397					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						CTCTAAGTTTCGCAAAAAACT	0.303000														70			26		0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37890311	37890311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:37890311G>A	uc003tfn.3	+	4	544	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	58	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	p.E58K(1)									TGAACTGAACGAAGACGAAAT	0.318000														75			7		0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87811273	87811273	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:87811273G>A	uc003ujn.3	+	29	2725	c.2510_splice	c.e29-1	p.G837_splice	ADAM22_uc003ujk.2_Splice_Site_p.G837_splice|ADAM22_uc003ujl.2_Splice_Site_p.G801_splice|ADAM22_uc003ujm.3_Splice_Site_p.G801_splice|ADAM22_uc003ujo.3_Splice_Site_p.G801_splice|ADAM22_uc003ujp.1_Splice_Site_p.G889_splice	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	837					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)			TCTTTTTCAGGTAACCTGGGA	0.398000														53			15		0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67647551	67647551	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:67647551T>A	uc001xiy.3	+	21	3229	c.2108T>A	c.(2107-2109)aTg>aAg	p.M703K	GPHN_uc001xix.3_Missense_Mutation_p.M736K|GPHN_uc010tss.2_Missense_Mutation_p.M749K|GPHN_uc010tst.2_Missense_Mutation_p.M672K|GPHN_uc010tsu.2_Missense_Mutation_p.M626K	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA.	703	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		CTGATGAGCATGCGCAGTGCC	0.478000			T	MLL	AL									27			10		0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344521	20344521	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:20344521C>T	uc001vwh.1	+	0	95	c.95C>T	c.(94-96)tCa>tTa	p.S32L		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	32					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)		ATGGTGTTTTCATTGCTTTAT	0.413000														347			66		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2923775	2923775	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:2923775C>T	uc010ckd.3	+	18	1727	c.1637C>T	c.(1636-1638)cCa>cTa	p.P546L	RAP1GAP2_uc010cke.3_Missense_Mutation_p.P531L	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	546					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CGACAGCCTCCAGTGGTGGCG	0.612000														19			18		0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2064598	2064598	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:2064598C>T	uc001qjx.1	-	6	731	c.651_splice	c.e6+1	p.Q217_splice	DCP1B_uc010sdy.1_Splice_Site_p.Q115_splice	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	Homo sapiens DCP1 decapping enzyme homolog B (S. cerevisiae) (DCP1B), mRNA.	217					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AACTCCGTACCTGGTTGGGCT	0.443000														198			85		0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296152	39296152	+	Silent	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:39296152A>G	uc010cxk.2	-	0	588	c.588T>C	c.(586-588)cgT>cgC	p.R196R		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	192						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACAAGGGACGGGGGCAGG	0.597000														20			4		0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	706349	706349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:706349C>T	uc002cii.1	+	17	2068	c.2014C>T	c.(2014-2016)Cgt>Tgt	p.R672C	WDR90_uc002cig.1_3'UTR|WDR90_uc002cih.1_3'UTR|WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.R199C|WDR90_uc002cil.1_5'Flank|WDR90_uc002cim.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	672								p.L671L(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGATGGCCTCCGTGTGCTGTC	0.711000														29			9		0	0	1	0	0
HTR1B	3351	broad.mit.edu	37	6	78172713	78172713	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:78172713G>A	uc003pil.1	-	0	408	c.408C>T	c.(406-408)tcC>tcT	p.S136S		NM_000863	NP_000854	P28222	5HT1B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1B (HTR1B), mRNA.	136					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GGTGCAGGATGGAGGCAGTGC	0.607000														48			27		0	0	1	0	0
RNF217	154214	broad.mit.edu	37	6	125397950	125397950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:125397950C>T	uc003pzr.3	+	3	1258	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	RNF217_uc003pzs.3_Missense_Mutation_p.R185C|RNF217_uc003pzt.3_Non-coding_Transcript			Q8TC41	RN217_HUMAN	Homo sapiens ring finger protein 217 (RNF217), mRNA.	185					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		ATGCAAATATCGCTACCTCCC	0.438000														45			29		0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48936102	48936103	+	Missense_Mutation	DNP	GT	AG	AG			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:48936102_48936103GT>AG	uc002rwu.4	-	7	734_735	c.664_665AC>CT	c.(664-666)aca>CTa	p.T222L	STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Non-coding_Transcript	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	222					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			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)	TTTCGGCCCTGTGGCCCCACGG	0.550000														127			39		0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124515329	124515329	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:124515329G>A	uc003eho.3	-	9	1896	c.1599C>T	c.(1597-1599)tgC>tgT	p.C533C	ITGB5_uc010hrx.3_Non-coding_Transcript	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	533	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity	p.C533Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		CGAAGCAGGAGCACTGGTTGC	0.597000														115			102		0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75329636	75329636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:75329636C>T	uc021rwo.1	-	0	902	c.902G>A	c.(901-903)gGa>gAa	p.G301E	PROX2_uc001xqp.2_Missense_Mutation_p.G301E|PROX2_uc001xqq.2_Intron	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	301					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		TGATAAATTTCCTACTGGGAC	0.557000														143			62		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80369074	80369074	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:80369074G>A	uc003kha.2	+	4	740	c.690G>A	c.(688-690)caG>caA	p.Q230Q	RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Silent_p.Q58Q	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	230	IQ.				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)		CCATCGTGCAGGATTACATTT	0.443000														60			29		0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330095	125330095	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:125330095C>T	uc004bmp.1	-	0	662	c.662G>A	c.(661-663)cGa>cAa	p.R221Q		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R221*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGTGAGGATTCGTATATAAGA	0.428000														34			8		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38131052	38131052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:38131052G>A	uc003atr.3	+	8	4980	c.4709G>A	c.(4708-4710)gGa>gAa	p.G1570E	TRIOBP_uc003atu.3_Missense_Mutation_p.G1398E	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1570					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)					CGGGCACCAGGAGAGGGGGTC	0.692000											OREG0026548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		147			44		0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161681153	161681153	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:161681153A>G	uc001gbe.3	+	3	699	c.457A>G	c.(457-459)Atc>Gtc	p.I153V	FCRLA_uc001gbg.3_Intron|FCRLA_uc009wup.3_Intron|FCRLA_uc009wuq.3_Intron|FCRLA_uc001gbd.3_Missense_Mutation_p.I147V|FCRLA_uc001gbf.3_Intron|FCRLA_uc009wuo.3_Intron	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.	130	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region		p.P152S(1)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GGAATTCTCCATCACCGTGGT	0.592000														52			23		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43820746	43820746	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:43820746G>A	uc001zrt.3	+	3	7542	c.7075G>A	c.(7075-7077)Gcc>Acc	p.A2359T		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2359						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)	GGATTGTGCAGCCAATGGCCC	0.632000														85			25		0	0	1	0	0
NT5DC2	64943	broad.mit.edu	37	3	52558517	52558517	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:52558517G>A	uc003den.3	-	13	1683	c.1643C>T	c.(1642-1644)cCc>cTc	p.P548L	NT5DC2_uc003dem.3_Missense_Mutation_p.P381L|NT5DC2_uc010hmi.3_Missense_Mutation_p.P523L|NT5DC2_uc010hmj.3_Missense_Mutation_p.P327L|NT5DC2_uc003deo.3_Missense_Mutation_p.P511L	NM_001134231	NP_001127703	Q9H857	NT5D2_HUMAN	Homo sapiens 5'-nucleotidase domain containing 2 (NT5DC2), transcript variant 1, mRNA.	511							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)		ACCAAGGAAGGGGGTCTTCAT	0.612000														288			54		0	0	1	0	0
HAX1	10456	broad.mit.edu	37	1	154245239	154245239	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:154245239C>T	uc010peo.2	+	0	201	c.40C>T	c.(40-42)Cct>Tct	p.P14S	HAX1_uc001fet.3_Missense_Mutation_p.P14S|HAX1_uc001fes.3_Missense_Mutation_p.P14S|HAX1_uc009wou.3_5'UTR	NM_006118	NP_006109	O00165	HAX1_HUMAN	Homo sapiens HCLS1 associated protein X-1 (HAX1), transcript variant 1, mRNA.	14	Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTTCGGCTTTCCTGGACCTCG	0.567000									Kostmann syndrome					110			21		0	0	1	0	0
CMBL	134147	broad.mit.edu	37	5	10290680	10290680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:10290680C>T	uc003jes.3	-	1	646	c.195G>A	c.(193-195)atG>atA	p.M65I		NM_138809	NP_620164	Q96DG6	CMBL_HUMAN	Homo sapiens carboxymethylenebutenolidase homolog (Pseudomonas) (CMBL), mRNA.	65						cytosol	hydrolase activity|protein binding			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						TTCCTGAGATCATGTCAGCTA	0.353000														152			71		0	0	1	0	0
FAM83E	54854	broad.mit.edu	37	19	49107049	49107049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:49107049G>A	uc002pjn.2	-	3	943	c.878C>T	c.(877-879)cCt>cTt	p.P293L	SPACA4_uc002pjo.3_5'Flank	NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	293										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGGGGGCGCAGGTGGGAGCGG	0.721000														16			12		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48696263	48696263	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:48696263G>A	uc002irk.1	+	32	6047	c.5675G>A	c.(5674-5676)tGg>tAg	p.W1892*	CACNA1G_uc002irj.1_Nonsense_Mutation_p.W1858*|CACNA1G_uc002irl.1_Nonsense_Mutation_p.W1869*|CACNA1G_uc002irm.1_Nonsense_Mutation_p.W1858*|CACNA1G_uc002irn.1_Nonsense_Mutation_p.W1851*|CACNA1G_uc002iro.1_Nonsense_Mutation_p.W1858*|CACNA1G_uc002irp.1_Nonsense_Mutation_p.W1892*|CACNA1G_uc002irq.1_Nonsense_Mutation_p.W1869*|CACNA1G_uc002irr.1_Nonsense_Mutation_p.W1892*|CACNA1G_uc002irs.1_Nonsense_Mutation_p.W1881*|CACNA1G_uc002irt.1_Nonsense_Mutation_p.W1874*|CACNA1G_uc002iru.1_Nonsense_Mutation_p.W1858*|CACNA1G_uc002irv.1_Nonsense_Mutation_p.W1881*|CACNA1G_uc002irw.1_Nonsense_Mutation_p.W1869*|CACNA1G_uc002irx.1_Nonsense_Mutation_p.W1805*|CACNA1G_uc002iry.1_Nonsense_Mutation_p.W1794*|CACNA1G_uc002isg.1_Nonsense_Mutation_p.W1753*|CACNA1G_uc002ish.1_Nonsense_Mutation_p.W1760*|CACNA1G_uc002isi.1_Nonsense_Mutation_p.W1748*|CACNA1G_uc002irz.1_Nonsense_Mutation_p.W1798*|CACNA1G_uc002isa.1_Nonsense_Mutation_p.W1771*|CACNA1G_uc002isd.1_Nonsense_Mutation_p.W1780*|CACNA1G_uc002isb.1_Nonsense_Mutation_p.W1812*|CACNA1G_uc002isc.1_Nonsense_Mutation_p.W1794*|CACNA1G_uc002ise.1_Nonsense_Mutation_p.W1760*|CACNA1G_uc002isf.1_Nonsense_Mutation_p.W1787*	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1892					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)	CCCTTCCTCTGGCCTGGGGTC	0.692000														34			19		0	0	1	0	0
B3GALT6	126792	broad.mit.edu	37	1	1168182	1168182	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:1168182C>T	uc001adk.3	+	0	554	c.524C>T	c.(523-525)cCc>cTc	p.P175L	SDF4_uc001adh.4_5'Flank|SDF4_uc001adi.4_5'Flank|SDF4_uc009vjw.3_5'Flank	NM_080605	NP_542172	Q96L58	B3GT6_HUMAN	Homo sapiens UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 (B3GALT6), mRNA.	175					glycosaminoglycan biosynthetic process|protein glycosylation	Golgi cisterna membrane|Golgi medial cisterna|integral to membrane	galactosylxylosylprotein 3-beta-galactosyltransferase activity			lung(3)	3	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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		gcccgcgagcccgcgcgccgc	0.751000														10			7		0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40400046	40400046	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:40400046C>T	uc003oph.1	-	1	1272	c.807G>A	c.(805-807)ggG>ggA	p.G269G		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	269	LRRCT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTTGAGGCCCCCTGGGGAGC	0.587000														64			30		0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7189193	7189193	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:7189193A>G	uc002gfp.3	+	9	1492	c.1292A>G	c.(1291-1293)aAc>aGc	p.N431S	SLC2A4_uc010cmd.3_Non-coding_Transcript|SLC2A4_uc021tpa.1_Missense_Mutation_p.N421S	NM_001042	NP_001033	P14672	GTR4_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA.	431					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						TGGACGAGCAACTTCATCATT	0.637000														51			39		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45459056	45459056	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:45459056C>T	uc001rol.3	-	0		c.139G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		AATTGGAGTTCGTTTCCTTCC	0.443000														32			12		0	0	1	0	0
FCHSD2	9873	broad.mit.edu	37	11	72695196	72695196	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:72695196G>A	uc009ytl.3	-	7	863	c.642C>T	c.(640-642)acC>acT	p.T214T	FCHSD2_uc010rrg.2_Silent_p.T54T|FCHSD2_uc001oth.4_Silent_p.T158T|FCHSD2_uc001oti.2_Silent_p.T173T	NM_014824	NP_055639	O94868	FCSD2_HUMAN	Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA.	214							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			CTGCCGCTAGGGTAAGAAGAT	0.363000														161			124		0	0	1	0	0
RARRES2	5919	broad.mit.edu	37	7	150037191	150037191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:150037191C>T	uc003wha.3	-	2	394	c.277G>A	c.(277-279)Ggg>Agg	p.G93R		NM_002889	NP_002880	Q99969	RARR2_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 2 (RARRES2), mRNA.	93					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TCACTCACCCCATTGGGCCTG	0.567000														645			234		0	0	1	0	0
ERMN	57471	broad.mit.edu	37	2	158178150	158178150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:158178150C>T	uc002tzi.3	-	3	682	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	ERMN_uc010zcj.2_Missense_Mutation_p.R57Q|ERMN_uc002tzh.3_Missense_Mutation_p.R163Q|ERMN_uc010zck.2_Missense_Mutation_p.R143Q	NM_001009959	NP_065762	Q8TAM6	ERMIN_HUMAN	Homo sapiens ermin, ERM-like protein (ERMN), transcript variant 1, mRNA.	163						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						GCTAGGTTTTCGAAATCCCAG	0.418000														82			47		0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187158058	187158058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:187158058C>T	uc003iyy.3	+	4	523	c.452C>T	c.(451-453)tCa>tTa	p.S151L	KLKB1_uc011clc.2_5'UTR|KLKB1_uc011cld.2_Missense_Mutation_p.S113L	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	151	Apple 2.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CAGTTTTTTTCATATGCCACG	0.413000														74			33		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234041368	234041368	+	Silent	SNP	G	A	A	rs137942881		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:234041368G>A	uc001hvy.1	+	1	292	c.147G>A	c.(145-147)gcG>gcA	p.A49A		NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	0					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)			TGGACGAGGCGATTAAGGAGG	0.642000														100			56		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86557961	86557961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:86557961G>A	uc001dlj.3	-	5	1717	c.1642C>T	c.(1642-1644)Cct>Tct	p.P548S	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.P548S	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	548					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)		TTTTCTCCAGGAACAGGTTGA	0.303000														97			19		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58564883	58564883	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:58564883G>A	uc002qrc.1	+	5	938	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	231					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCTGCGGGCAGAAGGGACTGT	0.642000														61			35		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10114820	10114821	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:10114820_10114821CC>TT	uc002mmq.1	-	5	681	c.595_splice	c.e5-1	p.G199_splice		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	199	TSP N-terminal.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CTGAATGTCTCCCTGGGGGTTG	0.619000														78			26		0	0	1	0	0
ADAM33	80332	broad.mit.edu	37	20	3655422	3655422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:3655422C>T	uc002wit.3	-	4	495	c.408G>A	c.(406-408)atG>atA	p.M136I	ADAM33_uc002wir.1_Missense_Mutation_p.M136I|ADAM33_uc002wis.3_5'Flank|ADAM33_uc002wiu.3_Missense_Mutation_p.M136I|ADAM33_uc002wiw.1_Non-coding_Transcript|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.M148I|ADAM33_uc010zqh.1_Missense_Mutation_p.M136I	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	136					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.G135E(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GAGCTCACCTCATCCCAGAGC	0.632000														85			32		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181687205	181687205	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:181687205C>T	uc009wxt.3	+	11	1735	c.1540C>T	c.(1540-1542)Ctg>Ttg	p.L514L	CACNA1E_uc001gow.3_Silent_p.L514L|CACNA1E_uc009wxs.3_Silent_p.L514L	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	514					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						TGCAGAATTTCTGTTTCTGGG	0.463000														24			9		0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46945797	46945797	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr21:46945797G>A	uc002zhl.2	-	4	1380	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	SLC19A1_uc010gpy.1_Silent_p.I409I|SLC19A1_uc011aft.2_Silent_p.I369I|SLC19A1_uc002zhm.2_Silent_p.I409I|SLC19A1_uc010gpz.2_Silent_p.I288I	NM_194255	NP_919231	P41440	S19A1_HUMAN	Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA.	409					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		TGGTCTTGACGATGGTGGCAA	0.577000														175			80		0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231349710	231349710	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:231349710A>G	uc009xfn.1	+	8	2315	c.2273A>G	c.(2272-2274)aAc>aGc	p.N758S		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	Homo sapiens tripartite motif containing 67 (TRIM67), mRNA.	758	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CTCAGCCTCAACCGCAACGTG	0.627000														54			13		0	0	1	0	0
ATL2	64225	broad.mit.edu	37	2	38536592	38536592	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:38536592G>A	uc002rqq.3	-	8	1030	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	ATL2_uc010ynm.2_Missense_Mutation_p.P316S|ATL2_uc010ynn.2_Missense_Mutation_p.P316S|ATL2_uc010yno.2_Missense_Mutation_p.P163S|ATL2_uc002rqr.3_Missense_Mutation_p.P163S|ATL2_uc002rqs.3_Missense_Mutation_p.P334S	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN	Homo sapiens atlastin GTPase 2 (ATL2), transcript variant 2, mRNA.	334					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						AAATTTTCAGGGGCAAGCAGC	0.328000														88			43		0	0	1	0	0
IL4R	3566	broad.mit.edu	37	16	27374928	27374928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:27374928C>T	uc002don.3	+	10	2497	c.2255C>T	c.(2254-2256)tCc>tTc	p.S752F	IL4R_uc002dop.4_Missense_Mutation_p.S737F|IL4R_uc010bxy.3_Missense_Mutation_p.S752F|IL4R_uc002doo.3_Missense_Mutation_p.S592F	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	752			S -> A (in dbSNP:rs1805016).		immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GGAGACAGGTCCTCGCCCCCT	0.667000														61			16		0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165513878	165513878	+	Silent	SNP	G	A	A	rs149047999	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:165513878G>A	uc001gde.2	+	0	401	c.345G>A	c.(343-345)tcG>tcA	p.S115S	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA.	115						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					ACCTAACCTCGATCTCCCCAT	0.493000														195			126		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5294770	5294770	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:5294770C>T	uc010zqw.2	-	0	254	c.246G>A	c.(244-246)aaG>aaA	p.K82K	PROKR2_uc010zqx.2_Silent_p.K82K|PROKR2_uc010zqy.2_Silent_p.K82K|AX746654_uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	82						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TGCGCAACTTCTTATAGCGGG	0.547000										HNSCC(71;0.22)				126			49		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45753460	45753460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:45753460C>T	uc003tne.4	+	19	3244	c.3226C>T	c.(3226-3228)Cca>Tca	p.P1076S		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	1076					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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GAAAATGTGTCCATTTGGGAG	0.587000														152			17		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96051605	96051605	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:96051605C>T	uc004ati.1	+	19	4680	c.4680C>T	c.(4678-4680)gtC>gtT	p.V1560V	WNK2_uc011lud.1_Silent_p.V1523V|WNK2_uc004atj.3_Silent_p.V1523V|WNK2_uc004atk.3_Silent_p.V1160V|WNK2_uc004atl.1_Silent_p.V118V	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1560					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGCCCACCGTCCCCCCACAGC	0.711000														17			4		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10992789	10992789	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:10992789C>T	uc003jfa.1	-	19	3230	c.3085_splice	c.e19-1	p.D1029_splice	CTNND2_uc010itt.2_Splice_Site_p.D938_splice|CTNND2_uc011cmy.1_Splice_Site_p.D692_splice|CTNND2_uc011cmz.1_Splice_Site_p.D596_splice|CTNND2_uc010itu.1_Splice_Site|CTNND2_uc011cmx.1_Splice_Site_p.D621_splice	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	1029					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						GACCATCCATCCTGCAAAACA	0.498000														192			49		0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47778003	47778003	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:47778003G>A	uc002lee.2	-	3	716	c.625C>T	c.(625-627)Cga>Tga	p.R209*		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	209								p.R209R(2)		endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TTGGCTAATCGGTCTTCCTCC	0.527000														151			119		0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366886	248366886	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:248366886G>A	uc010pzg.2	+	0	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R172L(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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)			TGGGTCTCGGGAAATAGCCCA	0.418000														161			61		0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89462371	89462371	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:89462371G>A	uc003dqy.3	+	9	2068	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	EPHA3_uc021xbf.1_Missense_Mutation_p.E615K	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	615						extracellular region|integral to plasma membrane	ATP binding			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)		GTTTGCCAAGGAATTGGATGC	0.423000										TSP Lung(6;0.00050)				71			15		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37283972	37283972	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:37283972G>A	uc022abv.1	-	6	1148	c.438C>T	c.(436-438)atC>atT	p.I146I	ELMO1_uc011kbc.2_Silent_p.I50I|ELMO1_uc003tfk.2_Silent_p.I146I|ELMO1_uc010kxg.2_Silent_p.I146I	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	146					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AAGGCTTCATGATCTTCTGCA	0.348000														83			6		0	0	1	0	0
MTRF1L	54516	broad.mit.edu	37	6	153314014	153314014	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:153314014G>A	uc003qpi.4	-	4	888	c.783C>T	c.(781-783)gtC>gtT	p.V261V	MTRF1L_uc003qpl.4_Silent_p.V261V|MTRF1L_uc011efa.2_Silent_p.V225V|MTRF1L_uc003qpk.4_Silent_p.V225V|MTRF1L_uc003qpj.4_Silent_p.V119V	NM_019041	NP_061914	Q9UGC7	RF1ML_HUMAN	Homo sapiens mitochondrial translational release factor 1-like (MTRF1L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	261						mitochondrion	translation release factor activity, codon specific			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		GAACTATCCGGACAGCACTGT	0.388000														96			60		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21778471	21778471	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:21778471G>A	uc003svc.3	+	47	7850	c.7819G>A	c.(7819-7821)Gat>Aat	p.D2607N		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2607	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCAGCATATTGATTATGGACA	0.338000									Kartagener syndrome					6			5		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21894393	21894394	+	Missense_Mutation	DNP	GT	AG	AG			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:21894393_21894394GT>AG	uc001war.2	-	3	1674_1675	c.1609_1610AC>CT	c.(1609-1611)act>CTt	p.T537L	CHD8_uc001was.2_Missense_Mutation_p.T258L	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	537					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CACTACAGGAGTGATGGTGCTA	0.356000														22			15		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141740634	141740634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:141740634C>T	uc003vwy.3	+	20	2540	c.2486C>T	c.(2485-2487)aCc>aTc	p.T829I		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	829	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)	CCAAATACAACCACTCTGGCC	0.463000														31			14		0	0	1	0	0
FAM211B	388886	broad.mit.edu	37	22	24982039	24982039	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:24982039G>A	uc003aaq.2	-	3	792	c.763C>T	c.(763-765)Ctg>Ttg	p.L255L	GGT1_uc003aan.1_Intron|FAM211B_uc003aao.2_Non-coding_Transcript	NM_207644	NP_997527	Q2VPJ9	LRC6X_HUMAN	Homo sapiens family with sequence similarity 211, member B (FAM211B), mRNA.	255																	GGCTGGGGCAGGGAAGCCACA	0.667000														161			90		0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148887969	148887969	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:148887969C>T	uc003ilf.3	+	17	1695	c.1695C>T	c.(1693-1695)atC>atT	p.I565I	ARHGAP10_uc003ilg.3_Silent_p.I214I|ARHGAP10_uc003ilh.3_Silent_p.I146I	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.	565	Rho-GAP.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTGTGGAAATCTTAATTGAAA	0.393000														47			15		0	0	1	0	0
SEPT3	55964	broad.mit.edu	37	22	42377782	42377782	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:42377782C>T	uc003bbr.4	+	1	282	c.144C>T	c.(142-144)atC>atT	p.I48I	SEPT3_uc003bbs.4_Silent_p.I48I|SEPT3_uc011apj.2_Intron|SEPT3_uc010gys.3_5'UTR	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN	Homo sapiens septin 3 (SEPT3), transcript variant A, mRNA.	48					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						ACACCATCATCGAGCAGATGC	0.597000														59			38		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3239853	3239853	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:3239853A>C	uc004crg.4	-	4	4030	c.3873T>G	c.(3871-3873)gaT>gaG	p.D1291E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1291						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)				AATCTAAGGAATCATAAGGGC	0.378000														131			83		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626826	140626826	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140626826C>T	uc003lje.3	+	0	1680	c.1680C>T	c.(1678-1680)ttC>ttT	p.F560F		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	560	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.F560F(2)		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)			ACTCGCCCTTCGTGCTGTACC	0.721000														49			37		0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133961020	133961020	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:133961020G>A	uc004caa.1	+	24	4238	c.4140G>A	c.(4138-4140)gcG>gcA	p.A1380A	LAMC3_uc010mze.1_Silent_p.A68A	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	1380	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity	p.A1380V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCAAGCAGGCGGAGAGGATGC	0.597000														83			32		0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154857980	154857980	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:154857980G>A	uc010hvr.1	+	10	1067	c.856_splice	c.e10-1	p.A286_splice	MME_uc003fab.1_Splice_Site_p.A286_splice|MME_uc003fac.1_Splice_Site_p.A286_splice|MME_uc003fad.1_Splice_Site_p.A286_splice|MME_uc003fae.1_Splice_Site_p.A286_splice	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	286					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.A286T(1)		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)	AAATCCATAGGCTACGGCTAA	0.299000														23			14		0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45639814	45639814	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:45639814G>A	uc001wwd.4	+	11	2124	c.2025G>A	c.(2023-2025)aaG>aaA	p.K675K	FANCM_uc010anf.3_Silent_p.K649K|FANCM_uc001wwe.4_Silent_p.K211K	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	675					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding	p.L674P(1)		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						GTAGCCTAAAGAAAGATTGGT	0.303000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					32			10		0	0	1	0	0
LHX2	9355	broad.mit.edu	37	9	126777551	126777551	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:126777551G>A	uc010mwi.1	+	2	1237	c.498G>A	c.(496-498)atG>atA	p.M166I	LHX2_uc004boe.1_Missense_Mutation_p.M158I	NM_004789	NP_004780	P50458	LHX2_HUMAN	Homo sapiens LIM homeobox 2 (LHX2), mRNA.	158	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						ACTTCGGCATGAAGGACAGCC	0.622000														206			81		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65792909	65792909	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:65792909G>A	uc001ogt.3	-	0	1080	c.942C>T	c.(940-942)ctC>ctT	p.L314L		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	314	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AGTCGCCATGGAGGTAACTGG	0.597000														35			22		0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38955789	38955789	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:38955789C>T	uc002hvh.1	-	0	423	c.357G>A	c.(355-357)aaG>aaA	p.K119K		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	119	Coil 1A.|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)				CATACCAACCCTTGATTTTTC	0.423000														208			63		0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67844067	67844067	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:67844067G>A	uc002lkp.2	-	10	1388	c.1320C>T	c.(1318-1320)ctC>ctT	p.L440L	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Silent_p.L440L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	440							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CCAACACCAGGAGTAGTTTCT	0.418000														62			37		0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751923	26751923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:26751923G>A	uc003cdp.3	+	1	1349	c.760G>A	c.(760-762)Gat>Aat	p.D254N	LRRC3B_uc003cdq.3_Missense_Mutation_p.D254N|LRRC3B_uc021wuj.1_Missense_Mutation_p.D254N	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	254						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TGAACCTGATGATATTAGCAC	0.428000														26			14		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38486020	38486020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:38486020C>T	uc010ive.1	-	16	2730	c.2398G>A	c.(2398-2400)Gat>Aat	p.D800N	LIFR_uc003jli.2_Missense_Mutation_p.D800N	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	800	Fibronectin type-III 6.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CCTTGAAGATCAGCAATTCTC	0.388000			T	PLAG1	salivary adenoma									69			24		0	0	1	0	0
GUSBP1	728411	broad.mit.edu	37	5	21461940	21461940	+	Missense_Mutation	SNP	G	A	A	rs137972597	by1000genomes	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:21461940G>A	uc010iub.3	+	2	220	c.140G>A	c.(139-141)cGa>cAa	p.R47Q	GUSBP1_uc011cnn.1_Non-coding_Transcript|GUSBP1_uc003jgh.4_Non-coding_Transcript|GUSBP1_uc003jgf.3_Missense_Mutation_p.R47Q|GUSBP1_uc003jgg.4_Non-coding_Transcript					Homo sapiens glucuronidase, beta pseudogene 1 (GUSBP1), transcript variant 3, non-coding RNA.																		GAACAAACTCGAAGAACAGCT	0.368000														120			68		0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080355	54080355	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:54080355C>T	uc002qbx.1	+	6	1975	c.541C>T	c.(541-543)Cat>Tat	p.H181Y	ZNF331_uc002qby.1_Missense_Mutation_p.H181Y|ZNF331_uc002qbz.1_Missense_Mutation_p.H181Y|ZNF331_uc010eqr.1_Missense_Mutation_p.H181Y|ZNF331_uc002qca.1_Missense_Mutation_p.H181Y|ZNF331_uc021uzg.1_Missense_Mutation_p.H181Y|ZNF331_uc021uzh.1_Missense_Mutation_p.H181Y|ZNF331_uc002qcb.1_Missense_Mutation_p.H181Y|ZNF331_uc002qcc.1_Missense_Mutation_p.H181Y|ZNF331_uc002qcd.1_Missense_Mutation_p.H181Y	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H181N(2)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TCAAAAAATTCATACTGGGGA	0.418000			T	?	follicular thyroid adenoma									87			59		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140783933	140783933	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140783933T>C	uc003lkh.2	+	0	1414	c.1414T>C	c.(1414-1416)Ttc>Ctc	p.F472L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.F472L	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	474	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTTCCATCTTCTCCGTGAT	0.478000														60			50		0	0	1	0	0
HOXA3	3200	broad.mit.edu	37	7	27149927	27149927	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:27149927G>A	uc011jzl.2	-	1	533	c.333C>T	c.(331-333)ccC>ccT	p.P111P	HOXA3_uc003syk.3_Silent_p.P111P	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	111	Pro-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						taggtgcagggggctgaggtg	0.746000														21			3		0	0	1	0	0
KLHL32	114792	broad.mit.edu	37	6	97562220	97562220	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:97562220G>A	uc010kcm.1	+	6	1661	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	KLHL32_uc003poy.3_Missense_Mutation_p.E397K|KLHL32_uc003poz.2_Intron|KLHL32_uc011ead.1_Missense_Mutation_p.E361K|KLHL32_uc011eae.1_Missense_Mutation_p.E328K|KLHL32_uc003ppa.2_Intron|MIR548H3_uc021zda.1_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	Homo sapiens kelch-like 32 (Drosophila) (KLHL32), mRNA.	397										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)		GGGTGCCATGGAGGAATACCT	0.517000														25			20		0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151128445	151128445	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:151128445G>A	uc004ffi.3	-	5	704	c.650C>T	c.(649-651)tCc>tTc	p.S217F	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript|MIR452_uc022cgx.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	217					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGGATAGGAAACTGGAAA	0.443000														76			34		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45555767	45555767	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:45555767G>A	uc010dnv.3	-	3	2226	c.1790C>T	c.(1789-1791)gCc>gTc	p.A597V	ZBTB7C_uc002ldb.3_Missense_Mutation_p.A575V|ZBTB7C_uc010dnu.3_Missense_Mutation_p.A584V|ZBTB7C_uc010dnw.3_Missense_Mutation_p.A575V	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	575						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						CAGCGCGAAGGCCAGGAGGCC	0.736000														7			3		0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183390263	183390263	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:183390263C>T	uc003flv.3	+	6	1888	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F	KLHL24_uc003flw.3_Silent_p.F531F|KLHL24_uc003flx.3_Silent_p.F531F	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA.	531						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AGAATACATTCAGCCGTCAGG	0.353000														32			30		0	0	1	0	0
SQRDL	58472	broad.mit.edu	37	15	45974710	45974710	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:45974710C>T	uc001zvu.3	+	7	1092	c.899C>T	c.(898-900)cCa>cTa	p.P300L	SQRDL_uc001zvv.3_Missense_Mutation_p.P300L	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	Homo sapiens sulfide quinone reductase-like (yeast) (SQRDL), nuclear gene encoding mitochondrial protein, mRNA.	300							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)		CCAATGAGCCCACCAGATGTC	0.458000														61			26		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177249876	177249876	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:177249876G>A	uc001glf.3	+	7	1876	c.1564G>A	c.(1564-1566)Gat>Aat	p.D522N	FAM5B_uc001glg.3_Missense_Mutation_p.D417N	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	522						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						GCAGAAGCAGGATAGCCGCAT	0.577000														56			34		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9943800	9943800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:9943800G>A	uc010uym.2	-	5	1451	c.1141C>T	c.(1141-1143)Cat>Tat	p.H381Y	GRIN2A_uc002czo.4_Missense_Mutation_p.H381Y|GRIN2A_uc010uyn.2_Missense_Mutation_p.H224Y|GRIN2A_uc002czr.4_Missense_Mutation_p.H381Y	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	381					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)	CTCAGCGTATGGTTCTCCCAC	0.577000														41			11		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30961278	30961278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:30961278C>T	uc021vfn.1	-	14	1614	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.E524K	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	528					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.E528K(2)		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)					GTTAGAAGCTCCTGGTTGAGA	0.557000														18			5		0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99434114	99434114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:99434114G>A	uc003ury.1	+	1	213	c.110G>A	c.(109-111)gGa>gAa	p.G37E	CYP3A43_uc003urx.1_Missense_Mutation_p.G37E|CYP3A43_uc003urz.1_Missense_Mutation_p.G37E|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Missense_Mutation_p.G37E|CYP3A43_uc003usb.1_Intron	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	37			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (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)	AAGAAGCTGGGAATTCCTGGG	0.393000														62			45		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869859	4869859	+	Missense_Mutation	SNP	G	A	A	rs142743963	byFrequency	TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:4869859G>A	uc010qyo.2	-	0	580	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R194C(4)		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)		CAGGCCAAACGAGCCACATCT	0.552000														54			28		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152506743	152506743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:152506743G>A	uc021vrb.1	-	51	7407	c.7378C>T	c.(7378-7380)Cct>Tct	p.P2460S	NEB_uc002txu.3_Missense_Mutation_p.P2460S|NEB_uc021vrc.1_Missense_Mutation_p.P2460S|NEB_uc010fnx.3_Missense_Mutation_p.P2460S|NEB_uc021vrd.1_Missense_Mutation_p.P2460S	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2460					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)		ATGGCATCAGGAATGCTGGTG	0.428000														42			20		0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31515325	31515325	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:31515325G>A	uc003jhg.2	-	7	1418	c.1059_splice	c.e7-1	p.H353_splice	DROSHA_uc003jhh.2_Splice_Site_p.S316_splice|DROSHA_uc003jhi.2_Splice_Site_p.S316_splice|DROSHA_uc010iui.1_Splice_Site_p.S276_splice	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	353					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						CTTGGGGAGCGACTTCAAAAG	0.393000														76			32		0	0	1	0	0
EPYC	1833	broad.mit.edu	37	12	91363872	91363872	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:91363872C>T	uc001tbk.3	-	5	840	c.747G>A	c.(745-747)ttG>ttA	p.L249L		NM_004950	NP_004941	Q99645	EPYC_HUMAN	Homo sapiens epiphycan (EPYC), mRNA.	249					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						GGATGTGGTCCAAGTTGTTAT	0.443000														103			40		0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61463551	61463551	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr18:61463551G>A	uc002ljl.3	+	4	484	c.388G>A	c.(388-390)Gac>Aac	p.D130N	SERPINB7_uc002ljm.3_Missense_Mutation_p.D130N|SERPINB7_uc010xet.2_Missense_Mutation_p.D113N|SERPINB7_uc010dqg.3_Missense_Mutation_p.D130N	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	130					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)				GGAGCGAGTTGACTTTACGAA	0.333000														32			35		0	0	1	0	0
SPAG8	26206	broad.mit.edu	37	9	35812260	35812260	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:35812260G>A	uc003zye.3	-	1	1	c.-114_splice	c.e1-1		SPAG8_uc003zyg.3_Splice_Site	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	Homo sapiens sperm associated antigen 8 (SPAG8), transcript variant 2, mRNA.							acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			TCTGCGGGGCGGAAGTCTTCA	0.617000														15			3		0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54142358	54142358	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:54142358G>A	uc003xrh.1	-	2	1017	c.642C>T	c.(640-642)ttC>ttT	p.F214F	OPRK1_uc022aup.1_Silent_p.F94F|OPRK1_uc003xri.1_Silent_p.F214F|OPRK1_uc010lyc.1_Silent_p.F125F	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	214					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CATCATCTGGGAACTGCAAGG	0.478000														36			17		0	0	1	0	0
SLC38A11	151258	broad.mit.edu	37	2	165796040	165796040	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:165796040G>A	uc002ucw.2	-	4	620	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	SLC38A11_uc002ucu.2_Missense_Mutation_p.R75C|SLC38A11_uc002ucv.2_Missense_Mutation_p.R97C	NM_001199148	NP_001186077	Q08AI6	S38AB_HUMAN	Homo sapiens solute carrier family 38, member 11 (SLC38A11), transcript variant 1, mRNA.	97					amino acid transport|sodium ion transport	integral to membrane		p.I96M(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						ATGAAGTGGCGACCAATAAAC	0.328000														44			23		0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138739004	138739004	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:138739004C>A	uc003esy.1	-	0	765	c.500G>T	c.(499-501)cGg>cTg	p.R167L		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	167								p.R167Q(2)		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						GGAGTCCATCCGGAGCTCCGG	0.647000														88			31		9.93527e-08	9.99915e-08	1	1	0
TRPV5	56302	broad.mit.edu	37	7	142630544	142630544	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:142630544G>A	uc003wby.1	-	0	277	c.13C>T	c.(13-15)Cta>Tta	p.L5L	TRPV5_uc003wbz.3_Silent_p.L5L	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	5					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GCCTTAGGTAGAAAACCCCCC	0.512000														145			62		0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248128657	248128657	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:248128657C>T	uc010pzd.2	+	0	24	c.24C>T	c.(22-24)tcC>tcT	p.S8S	OR2L13_uc001ids.3_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			atgtcatctCCTTTGATATTT	0.338000														65			31		0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458657	248458657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:248458657G>A	uc010pzj.2	-	0	224	c.224C>T	c.(223-225)aCt>aTt	p.T75I		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	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;0.0201)			TTTGGGCACAGTGGTGGAAAC	0.562000														96			9		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141459349	141459349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:141459349C>T	uc002tvj.1	-	39	7340	c.6368G>A	c.(6367-6369)aGa>aAa	p.R2123K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2123					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)		AAGGCCGGTTCTCATGGTTAT	0.403000										TSP Lung(27;0.18)				45			18		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10273956	10273956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:10273956C>T	uc010uym.2	-	2	623	c.313G>A	c.(313-315)Gac>Aac	p.D105N	GRIN2A_uc002czo.4_Missense_Mutation_p.D105N|GRIN2A_uc002czr.4_Missense_Mutation_p.D105N|GRIN2A_uc010buk.3_Missense_Mutation_p.D105N	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	105					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)	GCCTCCTGGTCCGTGTCGTCC	0.597000														148			29		0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15567445	15567445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:15567445C>T	uc002nbe.2	-	9	1530	c.1444G>A	c.(1444-1446)Gac>Aac	p.D482N	RASAL3_uc002nbd.3_5'Flank	NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	482	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GTGCCCAGGTCAGTCACCAGC	0.602000														29			22		0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57872935	57872935	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:57872935C>T	uc001sod.3	-	4	661	c.468G>A	c.(466-468)gaG>gaA	p.E156E	ARHGAP9_uc001snz.3_5'Flank|ARHGAP9_uc001soa.3_5'Flank|ARHGAP9_uc001sob.3_Silent_p.E85E|ARHGAP9_uc001soc.3_Silent_p.E85E|ARHGAP9_uc001soe.1_Silent_p.E164E|ARHGAP9_uc010sro.1_Silent_p.E85E	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	85					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GGATGGATTCCTCTATCATAT	0.557000														176			73		0	0	1	0	0
CMA1	1215	broad.mit.edu	37	14	24975306	24975306	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:24975306G>A	uc001wpp.1	-	3	558	c.528C>T	c.(526-528)agC>agT	p.S176S	CMA1_uc010alx.1_Silent_p.S65S	NM_001836	NP_001827	P23946	CMA1_HUMAN	Homo sapiens chymase 1, mast cell (CMA1), mRNA.	176	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)		CTCTGAAGTGGCTGCAGGCCT	0.537000														37			15		0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104124832	104124832	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:104124832C>T	uc010mtd.3	-	3	1244	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	BAAT_uc004bbd.4_Missense_Mutation_p.D379N	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	379					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	AACCTCAAATCGTGGGTCGTT	0.542000														40			29		0	0	1	0	0
TPP1	1200	broad.mit.edu	37	11	6638288	6638288	+	Missense_Mutation	SNP	G	A	A	rs121908205		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:6638288G>A	uc001mel.1	-	5	666	c.605C>T	c.(604-606)cCc>cTc	p.P202L	TPP1_uc001mek.1_5'UTR|TPP1_uc010rar.1_3'UTR	NM_000391	NP_000382	O14773	TPP1_HUMAN	Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.	202			P -> L (in CLN2; displays no residual enzyme activity; altered intracellular trafficking; dbSNP:rs121908205).		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)		GATCACAGAGGGGGTTACCCC	0.587000														66			47		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156812000	156812000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:156812000C>T	uc010pht.2	-	18	3600	c.3301G>A	c.(3301-3303)Gac>Aac	p.D1101N	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1101	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)					GCCATGCCGTCTGCAATCTCA	0.572000														51			15		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10081882	10081882	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:10081882G>A	uc002mmq.1	-	52	3914	c.3828_splice	c.e52+1	p.S1276_splice		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1276	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CACACTCACTGAAACTCCAGG	0.542000														57			14		0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49604371	49604371	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:49604371G>A	uc003ozk.4	-	0	217	c.155C>T	c.(154-156)cCt>cTt	p.P52L	RHAG_uc010jzl.3_Missense_Mutation_p.P52L|RHAG_uc010jzm.3_Missense_Mutation_p.P52L	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	52					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CTACTCACGAGGATATAACTC	0.373000														147			57		0	0	1	0	0
KPNA2	3838	broad.mit.edu	37	17	66036862	66036862	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:66036862C>T	uc002jgk.3	+	3	414	c.282C>T	c.(280-282)ctC>ctT	p.L94L	KPNA2_uc002jgl.3_Silent_p.L94L	NM_002266	NP_002257	P52292	IMA2_HUMAN	Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1) (KPNA2), mRNA.	94					DNA metabolic process|G2 phase of mitotic cell cycle|M phase specific microtubule process|NLS-bearing substrate import into nucleus|interspecies interaction between organisms|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAAATCAGCTCCAAGCTACTC	0.418000														217			87		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212488680	212488680	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:212488680G>A	uc002veg.1	-	17	2267	c.2169C>T	c.(2167-2169)gtC>gtT	p.V723V	ERBB4_uc002veh.1_Silent_p.V723V|ERBB4_uc010zji.1_Silent_p.V713V|ERBB4_uc010zjj.1_Silent_p.V713V|ERBB4_uc010fut.1_Silent_p.V723V	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.	723	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTGAGCCAAGGACTTTTACCC	0.388000										TSP Lung(8;0.080)				64			23		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123023025	123023025	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:123023025G>A	uc003egh.2	-	12	2448	c.2448C>T	c.(2446-2448)ttC>ttT	p.F816F	ADCY5_uc021xdd.1_Silent_p.F466F|ADCY5_uc003egg.2_Silent_p.F449F|ADCY5_uc003egi.1_Silent_p.F375F	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	816					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)		GTGgggaggggaagagctagg	0.612000														55			12		0	0	1	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1338079	1338079	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:1338079G>A	uc003jch.3	-	4	664	c.618C>T	c.(616-618)acC>acT	p.T206T	CLPTM1L_uc003jcg.3_Silent_p.T73T	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	Homo sapiens CLPTM1-like (CLPTM1L), mRNA.	206					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GGTAATGCACGGTTTTCCCCA	0.522000														31			10		0	0	1	0	0
AMIGO1	57463	broad.mit.edu	37	1	110050993	110050993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:110050993C>T	uc021org.1	-	0	542	c.542G>A	c.(541-543)gGa>gAa	p.G181E	AMIGO1_uc001dxx.4_Missense_Mutation_p.G181E	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA.	181					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TAGCTTGGCTCCTTCCTTGAC	0.547000														407			104		0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184764306	184764306	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:184764306C>T	uc001gra.3	-	13	2786	c.2592G>A	c.(2590-2592)gaG>gaA	p.E864E	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.	864	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GCCCTCCCATCTCTTCTTGTT	0.577000														141			44		0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47204181	47204181	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:47204181G>A	uc002pfh.3	-	7	1338	c.996C>T	c.(994-996)ttC>ttT	p.F332F	PRKD2_uc002pfg.3_Silent_p.F175F|PRKD2_uc002pfi.3_Silent_p.F332F|PRKD2_uc002pfj.3_Silent_p.F332F|PRKD2_uc010xye.2_Silent_p.F332F|PRKD2_uc002pfk.3_Silent_p.F175F	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN	Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.	332					T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	p.D331N(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CAGCCTCGCTGAAATCGGTGG	0.637000														54			32		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881634	26881634	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:26881634C>T	uc003jgs.1	-	11	2150	c.1981G>A	c.(1981-1983)Gat>Aat	p.D661N	CDH9_uc011cnv.1_Missense_Mutation_p.D254N	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	661					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D661Y(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCGCCTTCATCGTTGTAGGTC	0.438000														79			30		0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93221822	93221822	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:93221822G>A	uc001tck.3	-	11	1535	c.1270C>T	c.(1270-1272)Ctg>Ttg	p.L424L		NM_003566	NP_003557	Q15075	EEA1_HUMAN	Homo sapiens early endosome antigen 1 (EEA1), mRNA.	424	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|GTP-dependent protein binding|calmodulin binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCTGTCTCCAGAAGTTTGCTA	0.378000														99			28		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215916657	215916657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:215916657G>A	uc001hku.1	-	58	11797	c.11410C>T	c.(11410-11412)Cct>Tct	p.P3804S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3804	Fibronectin type-III 23.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P3804S(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACTCCACAGGAATTTCGGGG	0.403000										HNSCC(13;0.011)				84			51		0	0	1	0	0
MEIS2	4212	broad.mit.edu	37	15	37329079	37329079	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:37329079T>C	uc001zjr.3	-	7	1910	c.836A>G	c.(835-837)aAa>aGa	p.K279R	MEIS2_uc001zjl.3_Missense_Mutation_p.K266R|MEIS2_uc010ucj.2_Missense_Mutation_p.K266R|MEIS2_uc001zjm.3_Missense_Mutation_p.K191R|MEIS2_uc001zjn.3_Missense_Mutation_p.K133R|MEIS2_uc001zjo.3_Missense_Mutation_p.K279R|MEIS2_uc001zjp.3_Missense_Mutation_p.K279R|MEIS2_uc001zjs.3_Missense_Mutation_p.K279R|MEIS2_uc001zju.3_Missense_Mutation_p.K266R|MEIS2_uc001zjt.3_Missense_Mutation_p.K279R	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA.	279					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		AATGCCTCTTTTCTTCTGGCG	0.388000														83			33		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90078102	90078102	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:90078102C>T	uc010yts.2	+	23		c.2718C>T								Parts of antibodies, mostly variable regions.																		CGGGGCCAGTCAGAGTGTTAG	0.582000														40			44		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227946830	227946830	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:227946830C>T	uc021vxr.1	-	22	1797	c.1696_splice	c.e22+1	p.G566_splice	COL4A4_uc021vxs.1_Splice_Site_p.G566_splice	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	566	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)		ATTATGCTCACCTTTAACTCT	0.423000														123			45		0	0	1	0	0
PQLC3	130814	broad.mit.edu	37	2	11300786	11300786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:11300786G>A	uc002rbc.3	+	2	395	c.262G>A	c.(262-264)Ggg>Agg	p.G88R	PQLC3_uc010yjk.2_Missense_Mutation_p.G88R	NM_152391	NP_689604	Q8N755	PQLC3_HUMAN	Homo sapiens PQ loop repeat containing 3 (PQLC3), mRNA.	88						integral to membrane				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		TCATTTTAACGGGAACGTGAA	0.517000														226			31		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149481963	149481963	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:149481963C>A	uc010lpk.3	+	18	2753	c.2753C>A	c.(2752-2754)cCt>cAt	p.P918H	SSPO_uc010lpl.1_Missense_Mutation_p.P253H	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	918	VWFC 1.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGCCACTGCCCTTCACAGGGG	0.617000														157			44		2.01872e-29	2.04484e-29	1	1	0
KIAA1217	56243	broad.mit.edu	37	10	24508789	24508789	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:24508789C>T	uc001iru.4	+	1	708	c.305C>T	c.(304-306)cCc>cTc	p.P102L	KIAA1217_uc001irs.3_Missense_Mutation_p.P22L|KIAA1217_uc001irt.4_Missense_Mutation_p.P102L|KIAA1217_uc010qcy.2_Missense_Mutation_p.P102L|KIAA1217_uc010qcz.2_Missense_Mutation_p.P102L	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	102					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						CAGAAGTACCCCCACCACGCC	0.502000														48			29		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295898	29295898	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:29295898C>T	uc002rmt.2	-	0	1230	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	410					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GCAGGCAGTCCTGGGGTCTGC	0.572000														126			50		0	0	1	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726745	25726745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:25726745C>T	uc003nfc.3	-	0	46	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	HIST1H2BA_uc003nfd.3_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.	4					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CTGCTTCCCTCGTCCAGACAT	0.522000														122			53		0	0	1	0	0
SPON1	10418	broad.mit.edu	37	11	14063132	14063132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:14063132C>T	uc001mle.3	+	2	678	c.410C>T	c.(409-411)cCa>cTa	p.P137L		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	137	Reelin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GAAAGCACTCCACGGAGGAGG	0.473000														157			37		0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28112999	28112999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:28112999C>T	uc002dpa.1	-	22	3557	c.3056G>A	c.(3055-3057)cGg>cAg	p.R1019Q	XPO6_uc002dpb.1_Missense_Mutation_p.R1005Q|XPO6_uc010vcp.1_Missense_Mutation_p.R1018Q	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	1019					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CATGGCAGTCCGGAAGATCTT	0.577000														51			9		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166210825	166210825	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	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														153			57		0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35085666	35085666	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:35085666G>A	uc001ziu.1	-	2	477	c.234C>T	c.(232-234)atC>atT	p.I78I	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	78					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)		CCCAGTTGGTGATGATACCAT	0.567000														125			48		0	0	1	0	0
C12orf52	84934	broad.mit.edu	37	12	113629415	113629415	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:113629415C>T	uc001tur.1	+	3	1071	c.603C>T	c.(601-603)tcC>tcT	p.S201S		NM_032848	NP_116237	Q96K30	RITA_HUMAN	Homo sapiens chromosome 12 open reading frame 52 (C12orf52), mRNA.	201	Interaction with tubulin.				Notch signaling pathway|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						TTTCCCATTCCCTCACCCACC	0.612000														88			26		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18077162	18077162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:18077162C>T	uc021trm.1	+	63	10637	c.10418C>T	c.(10417-10419)tCc>tTc	p.S3473F	MYO15A_uc021trl.1_Missense_Mutation_p.S3471F|MYO15A_uc010vxi.2_Missense_Mutation_p.S737F|MYO15A_uc002gsl.3_Silent_p.L505L|MYO15A_uc010vxm.2_Intron|MYO15A_uc010cpv.3_Intron	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	3473	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACGGCCAACTCCAGCTACCCC	0.647000														54			48		0	0	1	0	0
TOB2P1	222699	broad.mit.edu	37	6	28185435	28185435	+	RNA	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:28185435C>T	uc011dla.1	-	0		c.1273G>A								Homo sapiens transducer of ERBB2, 2 pseudogene 1 (TOB2P1), non-coding RNA.											endometrium(1)	1						TTGGCCAGCACCACGGACTGG	0.512000														14			4		0	0	1	0	0
GRK1	6011	broad.mit.edu	37	13	114322087	114322087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:114322087G>A	uc010tkf.2	+	0	491	c.386G>A	c.(385-387)gGg>gAg	p.G129E		NM_002929	NP_002920	Q15835	RK_HUMAN	Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA.	129	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	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;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CTGGATGAGGGGATAGTGGCG	0.632000														32			34		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958281	121958281	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:121958281G>A	uc003idq.1	-	3	1372	c.845C>T	c.(844-846)tCc>tTc	p.S282F		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	282	Fibronectin type-III 1.									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						CTTGGGCCTGGAGTAGACATG	0.443000														49			21		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57829536	57829536	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr20:57829536C>T	uc002yan.3	+	4	4772	c.4772C>T	c.(4771-4773)cCt>cTt	p.P1591L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1591						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)					ACGTTTTTTCCTTCCAGAGGC	0.478000														81			29		0	0	1	0	0
HSD11B1	3290	broad.mit.edu	37	1	209878363	209878363	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:209878363G>A	uc001hhj.3	+	1	208	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	HSD11B1_uc021pin.1_Missense_Mutation_p.E26K|HSD11B1_uc001hhk.3_Missense_Mutation_p.E26K	NM_181755	NP_861420	P28845	DHI1_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA.	26					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	TGCAAACGAGGAATTCAGACC	0.463000														82			51		0	0	1	0	0
GFRA2	2675	broad.mit.edu	37	8	21563530	21563530	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:21563530G>C	uc003wzu.1	-	4	1493	c.818C>G	c.(817-819)gCc>gGc	p.A273G	GFRA2_uc003wzv.1_Missense_Mutation_p.A168G|GFRA2_uc003wzw.1_Missense_Mutation_p.A140G	NM_001495	NP_001486	O00451	GFRA2_HUMAN	Homo sapiens GDNF family receptor alpha 2 (GFRA2), transcript variant 1, mRNA.	273						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)		TCGACAATTGGCATGGAAGTC	0.567000														11			4		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158606460	158606460	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:158606460C>T	uc001fst.1	-	36	5480	c.5281G>A	c.(5281-5283)Gag>Aag	p.E1761K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1761					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCACCAGCTCCCCCTCTAGG	0.463000														100			46		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413173	178413174	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:178413173_178413174GG>TA	uc003mjr.3	-	7	2260_2261	c.2081_2082CC>TA	c.(2080-2082)ccc>cTA	p.P694L	GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.P277L|GRM6_uc003mjs.1_Missense_Mutation_p.P314L	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	694					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCTGTGAGGTGGGGCTGATGAA	0.624000														21			12		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18807986	18807986	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:18807986G>A	uc001bax.3	+	0	563	c.511G>A	c.(511-513)Gga>Aga	p.G171R	KLHDC7A_uc009vpg.3_5'UTR	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	171						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)		CTCCCCAGCTGGACTCATTGC	0.617000														82			25		0	0	1	0	0
CLP1	10978	broad.mit.edu	37	11	57427179	57427179	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:57427179C>T	uc001nkw.3	+	1	370	c.231C>T	c.(229-231)ggC>ggT	p.G77G	CLP1_uc010rjw.2_Silent_p.G77G|CLP1_uc009yml.3_Silent_p.G77G	NM_006831	NP_006822	Q92989	CLP1_HUMAN	Homo sapiens CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae) (CLP1), transcript variant 1, mRNA.	77					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|tRNA splicing, via endonucleolytic cleavage and ligation|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						AACTGAGCGGCCGCACTGAGG	0.517000														66			34		0	0	1	0	0
SEPT14	346288	broad.mit.edu	37	7	55872951	55872951	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:55872951C>T	uc003tqz.2	-	9	1236	c.1119_splice	c.e9+1	p.E373_splice		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	373					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)			CAGTACTAACCTCTTTTTCAG	0.338000														78			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075783	9075783	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9075783G>A	uc002mkp.3	-	2	11867	c.11663C>T	c.(11662-11664)tCt>tTt	p.S3888F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3889	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						TTCTGAGACAGAATTCATCAT	0.458000														34			15		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93819200	93819200	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr11:93819200G>A	uc001pep.2	+	10	2082	c.1925G>A	c.(1924-1926)aGa>aAa	p.R642K	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	642	Plastocyanin-like 4.				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)				AAAAGGGATAGAGTTTCCTGG	0.448000														39			22		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23865999	23865999	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:23865999G>A	uc001wjv.3	-	18	2267	c.2196C>T	c.(2194-2196)atC>atT	p.I732I		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	732	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			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)		GTCCCTCAGGGATGGCCACTG	0.542000														108			27		0	0	1	0	0
SPOPL	339745	broad.mit.edu	37	2	139326593	139326593	+	Silent	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:139326593A>T	uc002tvh.3	+	10	1522	c.1122A>T	c.(1120-1122)ctA>ctT	p.L374L		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	Homo sapiens speckle-type POZ protein-like (SPOPL), mRNA.	374						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		TTCGAGCACTAGCATCTGCAC	0.438000														300			108		0	0	1	0	0
PPBP	5473	broad.mit.edu	37	4	74853706	74853706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:74853706C>T	uc003hhj.3	-	0	202	c.115G>A	c.(115-117)Gga>Aga	p.G39R		NM_002704	NP_002695	P02775	CXCL7_HUMAN	Homo sapiens pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) (PPBP), mRNA.	39					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity	p.G39E(1)		breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			TTAGTTTGTCCTTTGGTGGAG	0.522000														60			37		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166897931	166897931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:166897931G>A	uc002udo.4	-	14	2452	c.2225C>T	c.(2224-2226)tCc>tTc	p.S742F	SCN1A_uc010fpk.3_Missense_Mutation_p.S714F|SCN1A_uc021vsb.1_Missense_Mutation_p.S731F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	742						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)	GAATATGTTGGAAAATTTATA	0.373000														129			50		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13793828	13793828	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:13793828C>T	uc003jfd.2	-	48	8062	c.8020G>A	c.(8020-8022)Gag>Aag	p.E2674K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2674	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)					CGCACTATCTCATTCGTAACC	0.423000									Kartagener syndrome					53			20		0	0	1	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37252230	37252230	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:37252230C>T	uc003onn.3	+	5	937	c.791C>T	c.(790-792)aCc>aTc	p.T264I	TBC1D22B_uc010jwt.3_Non-coding_Transcript	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA.	264	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CACCAGGATACCTACAGACAG	0.478000														74			42		0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100229531	100229531	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:100229531A>T	uc003uvv.1	-	7	1073	c.1004T>A	c.(1003-1005)tTc>tAc	p.F335Y	TFR2_uc010lhc.1_5'UTR|TFR2_uc003uvu.1_Missense_Mutation_p.F164Y	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	335					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)					GAAGGAAGGGAAGCCAGGTGT	0.582000														115			44		0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424585	125424585	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr9:125424585C>T	uc022bmz.1	+	0	591	c.591C>T	c.(589-591)atC>atT	p.I197I		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TCAAAGAAATCACAGTAATGA	0.403000														220			82		0	0	1	0	0
KRT17	3872	broad.mit.edu	37	17	39777872	39777872	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:39777872C>T	uc002hxh.2	-	3	928	c.807G>A	c.(805-807)aaG>aaA	p.K269K	JUP_uc010wfs.2_Intron	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	269	Coil 2.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CCTCGGCATCCTTGCGGTTCT	0.597000														160			52		0	0	1	0	0
SPANXN5	494197	broad.mit.edu	37	X	52825638	52825638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:52825638C>T	uc004drc.1	-	1	109	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K		NM_001009616	NP_001009616	Q5MJ07	SPXN5_HUMAN	Homo sapiens SPANX family, member N5 (SPANXN5), mRNA.	37								p.E37K(2)		large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					AAACTCGGTTCGAGGACTAAG	0.388000														47			36		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25320226	25320226	+	Silent	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:25320226G>A	uc003abg.2	+	25	3589	c.3432G>A	c.(3430-3432)ctG>ctA	p.L1144L	SGSM1_uc010guu.1_Silent_p.L1089L|SGSM1_uc003abh.2_Silent_p.L1083L|SGSM1_uc003abj.2_Silent_p.L1028L|SGSM1_uc003abi.1_Silent_p.L1064L	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	1144						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						TGCAGACTCTGATTGAGAACA	0.572000														52			24		0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	132730588	132730588	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:132730588C>T	uc010nrn.2	-	7	1719	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N	GPC3_uc004exe.2_Missense_Mutation_p.D485N|GPC3_uc011mvh.2_Missense_Mutation_p.D469N|GPC3_uc010nro.2_Missense_Mutation_p.D431N	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	485						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	p.G508G(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGGTTTTTATCCAGAACTCTA	0.448000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome					95			42		0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57134297	57134298	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:57134297_57134298GG>AA	uc002iwy.4	-	12	1581_1582	c.1137_1138CC>TT	c.(1135-1140)ttccgt>ttTTgt	p.R380C	TRIM37_uc002iwz.4_Missense_Mutation_p.R380C|TRIM37_uc002ixa.4_Missense_Mutation_p.R258C|TRIM37_uc010woc.2_Missense_Mutation_p.R346C	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	380	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)					AAGTCCAAACGGAAAAATCTAT	0.356000									Mulibrey Nanism					117			23		0	0	1	0	0
TSPAN2	10100	broad.mit.edu	37	1	115601542	115601542	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:115601542C>T	uc001eft.3	-	4	474	c.406G>A	c.(406-408)Gga>Aga	p.G136R	TSPAN2_uc021osc.1_Missense_Mutation_p.G136R	NM_005725	NP_005716	O60636	TSN2_HUMAN	Homo sapiens tetraspanin 2 (TSPAN2), mRNA.	136						integral to membrane				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)		TTGCCTTTTCCCCTGTCTTTA	0.423000														189			129		0	0	1	0	0
RNF2	6045	broad.mit.edu	37	1	185056719	185056719	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:185056719C>T	uc001grc.1	+	1	267	c.34C>T	c.(34-36)Cca>Tca	p.P12S	RNF2_uc001grd.1_Missense_Mutation_p.P12S	NM_007212	NP_009143	Q99496	RING2_HUMAN	Homo sapiens ring finger protein 2 (RNF2), mRNA.	12	Interaction with HIP2.				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		CGGAACTCAACCATTAAGCAA	0.403000														123			77		0	0	1	0	0
SAMD14	201191	broad.mit.edu	37	17	48191655	48191655	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:48191655C>T	uc002iqf.3	-	8	1221	c.922G>A	c.(922-924)Gat>Aat	p.D308N	SAMD14_uc002iqe.3_Missense_Mutation_p.D63N|SAMD14_uc002iqg.3_Missense_Mutation_p.D280N	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN	Homo sapiens sterile alpha motif domain containing 14 (SAMD14), mRNA.	280								p.D308N(2)		breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GTGGAGTCATCACTCAGAGTG	0.577000														65			28		0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24468280	24468280	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr13:24468280C>T	uc010tcw.2	-	1	247	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	C1QTNF9B_uc010tcv.1_Missense_Mutation_p.E84K|C1QTNF9B_uc001uoz.1_Missense_Mutation_p.R76Q|C1QTNF9B_uc010tcx.2_Missense_Mutation_p.R76Q	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9B (C1QTNF9B), mRNA.	76	Collagen-like 1.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						CTACTAACCTCGTTCTCCCTT	0.443000														40			6		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34076727	34076727	+	Missense_Mutation	SNP	G	A	A	rs140911773		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:34076727G>A	uc001bxm.1	-	40	6434	c.6257C>T	c.(6256-6258)tCc>tTc	p.S2086F	CSMD2_uc001bxn.1_Missense_Mutation_p.S2046F|CSMD2_uc001bxo.1_Missense_Mutation_p.S959F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2046						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)				GGAGAGGAGGGAGCTTGGAAG	0.557000														54			21		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51284163	51284163	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:51284163C>T	uc011bds.2	+	21	2132	c.2109C>T	c.(2107-2109)ctC>ctT	p.L703L		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	703						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)		CCAGGGAGCTCATCCGCTGTT	0.428000														50			12		0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134102613	134102613	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:134102613C>T	uc003kzw.3	+	2	381	c.213C>T	c.(211-213)tcC>tcT	p.S71S	DDX46_uc003kzv.1_Intron	NM_014829	NP_055644	Q7L014	DDX46_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA.	71	Arg-rich.				RNA splicing|mRNA processing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding	p.R70C(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCAGACGTTCCAGAAGTAGAG	0.478000														20			17		0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39928000	39928000	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:39928000G>A	uc002hxq.2	-	1	384	c.107C>T	c.(106-108)tCc>tTc	p.S36F	JUP_uc010wfs.2_Missense_Mutation_p.S36F|JUP_uc002hxr.2_Missense_Mutation_p.S36F|JUP_uc002hxs.2_Missense_Mutation_p.S36F	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	36					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)		GCTGCTGACGGAGGGCACGCA	0.607000														85			36		0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7890145	7890145	+	Silent	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr1:7890145C>T	uc001aop.3	+	17	3362	c.3138C>T	c.(3136-3138)tcC>tcT	p.S1046S	PER3_uc009vmg.1_Silent_p.S1045S|PER3_uc009vmh.1_Silent_p.S1038S|PER3_uc001aoo.3_Silent_p.S1037S|PER3_uc010nzw.2_Silent_p.S726S	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	1037	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GGACTCCATCCCATCCTACTG	0.567000														102			40		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40964859	40964859	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:40964859T>A	uc003jmh.3	+	13	1880	c.1766T>A	c.(1765-1767)tTt>tAt	p.F589Y	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	589	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GGTACAATGTTTCCTGTGGGG	0.368000														50			17		0	0	1	0	0
TMEM154	201799	broad.mit.edu	37	4	153564299	153564299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:153564299G>A	uc003imw.2	-	4	651	c.419C>T	c.(418-420)tCt>tTt	p.S140F		NM_152680	NP_689893	Q6P9G4	TM154_HUMAN	Homo sapiens transmembrane protein 154 (TMEM154), mRNA.	140						integral to membrane				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTCCATAACAGAGGGTGTATC	0.338000														69			12		0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60813617	60813617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr17:60813617C>T	uc010dds.3	-	6	2011	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	MARCH10_uc010ddr.3_Missense_Mutation_p.E538K|MARCH10_uc002jag.4_Missense_Mutation_p.E538K|MARCH10_uc002jah.2_Missense_Mutation_p.E537K|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.	538	Poly-Ser.						ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						ACAGCAAATTCGTGTGCACTG	0.443000														133			56		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48619788	48619788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr3:48619788C>T	uc003ctz.2	-	45	4604	c.4603G>A	c.(4603-4605)Gag>Aag	p.E1535K		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1535	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)		CGACCAGGCTCCCCCTGTGGA	0.607000														197			142		0	0	1	0	0
YTHDC1	91746	broad.mit.edu	37	4	69182129	69182130	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr4:69182129_69182130GG>AA	uc003hdx.3	-	15	2214_2215	c.1861_1862CC>TT	c.(1861-1863)cct>TTt	p.P621F	YTHDC1_uc003hdy.3_Missense_Mutation_p.P603F	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	621	Pro-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						CTGATAGTAAGGATGGTGTGGA	0.441000														105			40		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9020006	9020006	+	Silent	SNP	T	G	G			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9020006T>G	uc002mkp.3	-	20	37693	c.37489A>C	c.(37489-37491)Agg>Cgg	p.R12497R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12499	SEA 3.				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						AGACTGTTCCTGTCCAGGGTG	0.512000														284			104		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77334280	77334280	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr16:77334280G>A	uc002ffc.4	-	16	2973	c.2554C>T	c.(2554-2556)Cca>Tca	p.P852S	ADAMTS18_uc010chc.1_Missense_Mutation_p.P440S|ADAMTS18_uc002ffe.1_Missense_Mutation_p.P548S	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	852	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCTATCCCTGGATTTTTGCCT	0.433000														65			16		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1651987	1651991	+	Frame_Shift_Del	DEL	TCAGG	-	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:1651987_1651991delTCAGG	uc002qxa.3	-	16	3625_3629	c.3561_3565delCCTGA	c.(3559-3567)gacctgaaafs	p.D1187fs		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	1187					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATCTCATTTTTCAGGTCCTCGAACG	0.561													---	394	---	---	21	---					
WDR35	57539	broad.mit.edu	37	2	20178521	20178521	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:20178521delA	uc002rdi.3	-	4	535	c.427delT	c.(427-429)tcafs	p.S143fs	WDR35_uc002rdj.3_Frame_Shift_Del_p.S143fs|WDR35_uc010ext.3_Non-coding_Transcript	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA.	143										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATCCACTGAACCAACTATC	0.373													---	179	---	---	22	---					
HEATR5B	54497	broad.mit.edu	37	2	37235932	37235932	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr2:37235932delA	uc002rpp.1	-	27	4440	c.4344delT	c.(4342-4344)attfs	p.I1448fs	HEATR5B_uc010ezy.1_Frame_Shift_Del_p.I32fs|HEATR5B_uc002rpq.4_Frame_Shift_Del_p.I32fs	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	1448							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CAGTATTTTTAATTGCTCTTT	0.363													---	205	---	---	90	---					
PCDHAC2	56134	broad.mit.edu	37	5	140251090	140251090	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr5:140251090delT	uc011dae.2	+	0	3260	c.2402delT	c.(2401-2403)ctafs	p.L801fs	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	NM_031861	NP_114067	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 2, mRNA.	0					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)			GTGAGTTTTCTACAGATTCCA	0.418													---	5	---	---	6	---					
ENPP1	5167	broad.mit.edu	37	6	132204842	132204843	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr6:132204842_132204843delAA	uc011ecf.2	+	21	2259_2260	c.2239_2240delAA	c.(2239-2241)aaafs	p.K747fs		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	747	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AGAACTAAATAAAAATTCAAGT	0.277													---	59	---	---	33	---					
TRRAP	8295	broad.mit.edu	37	7	98551016	98551016	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr7:98551016delT	uc003upp.3	+	38	5878	c.5669delT	c.(5668-5670)attfs	p.I1890fs	TRRAP_uc011kis.2_Frame_Shift_Del_p.I1872fs|TRRAP_uc003upr.3_Frame_Shift_Del_p.I1589fs	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1890					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)			CTGGCGCACATTATCGCCAAA	0.587													---	93	---	---	44	---					
LONRF1	91694	broad.mit.edu	37	8	12598449	12598449	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr8:12598449delT	uc003wwd.1	-	2	960	c.897delA	c.(895-897)ttafs	p.L299fs	LONRF1_uc010lsp.1_5'UTR	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 1 (LONRF1), mRNA.	299					proteolysis		ATP-dependent peptidase activity|zinc ion binding	p.A298A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		GAAAGAGTTGTAAGGCATCAC	0.368													---	149	---	---	37	---					
NRG3	10718	broad.mit.edu	37	10	83635829	83635829	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr10:83635829delT	uc021pvc.1	+	0	760	c.733delT	c.(733-735)tctfs	p.S245fs	NRG3_uc010qlz.1_Frame_Shift_Del_p.S245fs|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Frame_Shift_Del_p.S245fs|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank|NRG3_uc021pvd.1_5'Flank|NRG3_uc021pve.1_5'Flank|NRG3_uc021pvf.1_5'Flank|NRG3_uc021pvg.1_5'Flank|NRG3_uc021pvh.1_5'Flank|NRG3_uc021pvi.1_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	245	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.L244L(1)		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)		CTGGACCCTGTCTCCCTTTCA	0.557													---	18	---	---	22	---					
MIR1293	100302220	broad.mit.edu	37	12	50627995	50627995	+	Splice_Site	DEL	T	-	-	rs74548567		TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:50627995delT	uc021qxu.1	-	1		c.1_splice	c.e1-1		LIMA1_uc001rwj.4_Intron|LIMA1_uc001rwk.4_Intron|LIMA1_uc010sms.2_Intron|LIMA1_uc010smr.2_Intron					Homo sapiens microRNA 1293 (MIR1293), microRNA.																		CAGAACAACCttttttttttt	0.478													---	5	---	---	3	---					
SLC4A8	9498	broad.mit.edu	37	12	51851189	51851189	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:51851189delT	uc001rys.1	+	5	807	c.629delT	c.(628-630)gttfs	p.V210fs	SLC4A8_uc010sni.2_Frame_Shift_Del_p.V157fs|SLC4A8_uc001rym.3_Frame_Shift_Del_p.V157fs|SLC4A8_uc001ryn.3_Frame_Shift_Del_p.V157fs|SLC4A8_uc001ryo.2_Frame_Shift_Del_p.V157fs|SLC4A8_uc001ryp.1_Frame_Shift_Del_p.V157fs|SLC4A8_uc010snj.2_Frame_Shift_Del_p.V237fs|SLC4A8_uc001ryq.4_Frame_Shift_Del_p.V210fs|SLC4A8_uc001ryr.3_Frame_Shift_Del_p.V210fs|SLC4A8_uc010snk.2_Frame_Shift_Del_p.V157fs	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	210					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)		AGCATGAGGGTTAAAGTGCGG	0.463													---	76	---	---	31	---					
DHX37	57647	broad.mit.edu	37	12	125441343	125441343	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr12:125441343delG	uc001ugy.3	-	17	2446	c.2347delC	c.(2347-2349)cgcfs	p.R783fs		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	783							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TTAGCGTAGCGGGGTGCCACG	0.632													---	222	---	---	60	---					
CPSF2	53981	broad.mit.edu	37	14	92625548	92625549	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr14:92625548_92625549delTC	uc001yah.2	+	13	2311_2312	c.2043_2044delTC	c.(2041-2046)agtctgfs	p.S681fs		NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 2, 100kDa (CPSF2), mRNA.	681					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|hydrolase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		CCATGAAAAGTCTGTTCGGAGA	0.411													---	84	---	---	21	---					
FAN1	22909	broad.mit.edu	37	15	31196894	31196894	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr15:31196894delA	uc001zff.3	+	1	319	c.28delA	c.(28-30)aaafs	p.K10fs	FAN1_uc001zfc.3_Frame_Shift_Del_p.K10fs|FAN1_uc010azw.2_Frame_Shift_Del_p.K10fs|FAN1_uc001zfd.3_Frame_Shift_Del_p.K10fs|FAN1_uc001zfe.3_5'UTR	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript variant 1, mRNA.	10					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACCTCCTGACAAAAAAAGGCC	0.353								Direct reversal of damage					---	335	---	---	7	---					
MUC16	94025	broad.mit.edu	37	19	9073231	9073232	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:9073231_9073232insA	uc002mkp.3	-	2	14418_14419	c.14214_14215insT	c.(14212-14217)tttcagfs	p.F4738fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4740	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						GCTTCATCCTGAAAGGGAGGGT	0.505													---	106	---	---	46	---					
ZNF442	79973	broad.mit.edu	37	19	12461741	12461741	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr19:12461741delA	uc002mtr.1	-	5	1269	c.658delT	c.(658-660)tggfs	p.W220fs	ZNF442_uc010xmk.1_Frame_Shift_Del_p.W151fs	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	Homo sapiens zinc finger protein 442 (ZNF442), mRNA.	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						AAACTAGGCCAAAAAAAGGCT	0.403													---	291	---	---	7	---					
PLXNB2	23654	broad.mit.edu	37	22	50718203	50718223	+	Splice_Site	DEL	GTCCTGGAGTAACACGGAGGG	-	-			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chr22:50718203_50718223delGTCCTGGAGTAACACGGAGGG	uc003bkv.4	-	27	4336	c.4243_splice	c.e27-1	p.D1415_splice	PLXNB2_uc003bkt.1_Splice_Site_p.D207_splice|PLXNB2_uc003bku.1_Splice_Site_p.D400_splice	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1415					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)		CCCCGGCACTGTCCTGGAGTAACACGGAGGGGAGGCTGGGA	0.629													---	364	---	---	69	---					
HDHD1	8226	broad.mit.edu	37	X	7066113	7066114	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A29M-06A-11D-A196-08	TCGA-EE-A29M-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f7ab2b-6434-4a48-8a1d-80ba13724a9d	d006b14a-f474-4180-a3c1-41608c08b6d7	g.chrX:7066113_7066114insA	uc004crv.2	-	0	118_119	c.41_42insT	c.(40-42)gacfs	p.D14fs	STS_uc004crw.2_Intron|STS_uc011mhp.1_Non-coding_Transcript|STS_uc004crx.1_Non-coding_Transcript|HDHD1_uc011mhm.1_Frame_Shift_Ins_p.D14fs|HDHD1_uc011mhn.1_Frame_Shift_Ins_p.D14fs|HDHD1_uc010ndl.2_Frame_Shift_Ins_p.D14fs|HDHD1_uc011mho.1_Frame_Shift_Ins_p.D14fs	NM_012080	NP_036212	Q08623	HDHD1_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 1 (HDHD1), transcript variant 2, mRNA.	14					nucleotide metabolic process		metal ion binding|phosphatase activity			breast(2)|large_intestine(1)|lung(3)	6						GTCCGTCCATGTCAAAGATGAG	0.713													---	4	---	---	2	---