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
BTBD16	118663	broad.mit.edu	37	10	124045742	124045742	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:124045742G>A	uc001lgc.1	+	4	615	c.364G>A	c.(364-366)Gag>Aag	p.E122K	BTBD16_uc001lgd.1_Missense_Mutation_p.E121K	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	122										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)				CCCCCTGAGGGAGCTGGAGGA	0.597000														17			47		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065405	9065405	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:9065405G>A	uc002mkp.3	-	2	22245	c.22041C>T	c.(22039-22041)acC>acT	p.T7347T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7349	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						AGGAGGGAGTGGTTGATGTGT	0.488000														9			59		0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36570032	36570032	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:36570032A>C	uc022abu.1	-	18	1915	c.1514T>G	c.(1513-1515)tTc>tGc	p.F505C	AOAH_uc003tfh.4_Missense_Mutation_p.F505C|AOAH_uc011kba.2_Missense_Mutation_p.F473C	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	505					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ACTTTCATGGAAGGCAAAATC	0.403000														24			12		0	0	1	0	0
WDR93	56964	broad.mit.edu	37	15	90281358	90281358	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:90281358C>T	uc002boj.3	+	15	1953	c.1852C>T	c.(1852-1854)Ctg>Ttg	p.L618L	WDR93_uc010bnr.3_Silent_p.L590L|WDR93_uc010upz.2_Silent_p.L335L	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	618					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CTGCCCACTCCTGGAAAATAT	0.448000														222			96		0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77451871	77451871	+	Silent	SNP	G	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:77451871G>T	uc001oyn.3	-	3	603	c.483C>A	c.(481-483)ctC>ctA	p.L161L		NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	161					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			ACCAGTACATGAGGCCATCTT	0.398000														37			18		1.99824e-07	2.00943e-07	1	1	0
CARD6	84674	broad.mit.edu	37	5	40854128	40854128	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:40854128C>T	uc003jmg.3	+	2	2769	c.2694C>T	c.(2692-2694)tcC>tcT	p.S898S		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	898					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						ACCCTCAGTCCTTTCAACCAG	0.483000														53			34		0	0	1	0	0
CHRM4	1132	broad.mit.edu	37	11	46406877	46406877	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:46406877G>A	uc001nct.1	-	0	1231	c.1231C>T	c.(1231-1233)Ctc>Ttc	p.L411F		NM_000741	NP_000732	P08173	ACM4_HUMAN	Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	411					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	p.L411F(2)		breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	GTCCAGGTGAGGATGAAGGCT	0.597000														15			6		0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46712274	46712274	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:46712274C>T	uc011aqy.2	+	6	1609	c.1397C>T	c.(1396-1398)cCt>cTt	p.P466L	GTSE1_uc011aqz.2_Missense_Mutation_p.P313L|GTSE1_uc003bhl.1_Missense_Mutation_p.P91L|GTSE1_uc003bhm.1_Missense_Mutation_p.P91L	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	447					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		ATGCCTACTCCTACAAATCAA	0.318000														84			50		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161006150	161006150	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:161006150C>T	uc003qtl.3	-	26	4337	c.4217G>A	c.(4216-4218)gGa>gAa	p.G1406E		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3914	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			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)	ACATGTTCTTCCTGTGATAGT	0.463000														72			51		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106405789	106405789	+	RNA	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:106405789G>A	uc021ser.1	-	3033		c.50003C>T								Parts of antibodies, mostly variable regions.																		TCTCGATGGGGACTGCCTGAT	0.527000														67			39		0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28343131	28343131	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:28343131C>T	uc001iua.1	-	18	1998	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.E532K|MPP7_uc009xla.2_Missense_Mutation_p.E532K	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	532	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TATTGACTTTCCATTATCTGT	0.308000														2			10		0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236721628	236721628	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:236721628T>A	uc001hyd.2	-	35	5265	c.5113A>T	c.(5113-5115)Aag>Tag	p.K1705*	HEATR1_uc009xgh.2_Nonsense_Mutation_p.K867*	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1705					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTCTCCTCCTTTCTCTCTGGA	0.522000														80			24		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433602	40433602	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:40433602G>A	uc002omp.4	-	1	675	c.667C>T	c.(667-669)Ctc>Ttc	p.L223F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	223	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)			TGGCCAGAGAGGACAGCCACG	0.572000														12			65		0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167185017	167185017	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:167185017C>T	uc003fes.1	-	2	405	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	SERPINI2_uc003fer.1_Missense_Mutation_p.E102K|SERPINI2_uc003fet.1_Missense_Mutation_p.E102K	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	102					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AATGTAAATTCTTGTTTTTTC	0.328000														23			11		0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38516831	38516831	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:38516831G>A	uc003auy.1	-	11	1813	c.1677C>T	c.(1675-1677)ccC>ccT	p.P559P	PLA2G6_uc003auz.1_Silent_p.P505P|PLA2G6_uc003ava.1_Silent_p.P559P|PLA2G6_uc003avb.2_Silent_p.P505P|PLA2G6_uc010gxk.1_Non-coding_Transcript	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	559					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)	ACTCCTCCAGGGGCCCCGACT	0.617000														59			41		0	0	1	0	0
SGOL1	151648	broad.mit.edu	37	3	20215927	20215927	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:20215927C>T	uc003cbu.3	-	5	1251	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M	SGOL1_uc003cbw.3_Intron|SGOL1_uc003cbv.3_Intron|SGOL1_uc003cbt.3_Intron|SGOL1_uc010hfa.3_Intron|SGOL1_uc003cbs.3_Missense_Mutation_p.V366M|SGOL1_uc003cbr.3_Intron|SGOL1_uc003ccc.3_Intron|SGOL1_uc021wtx.1_Intron|SGOL1_uc021wty.1_Intron|SGOL1_uc003ccb.3_Intron|SGOL1_uc003cca.3_Missense_Mutation_p.V366M|SGOL1_uc003cby.3_Intron|SGOL1_uc003cbx.3_Intron|SGOL1_uc003cbz.3_Missense_Mutation_p.V366M	NM_001012410	NP_001186181	Q5FBB7	SGOL1_HUMAN	Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA.	366					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						CAGAGGCTCACTTCAGACTCG	0.413000														45			28		0	0	1	0	0
MAPK1IP1L	93487	broad.mit.edu	37	14	55529445	55529445	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:55529445C>T	uc001xbq.1	+	2	292	c.128C>T	c.(127-129)cCg>cTg	p.P43L		NM_144578	NP_653179	Q8NDC0	MISSL_HUMAN	Homo sapiens mitogen-activated protein kinase 1 interacting protein 1-like (MAPK1IP1L), mRNA.	43	Pro-rich.									endometrium(2)|large_intestine(1)|lung(3)	6						TGGAATAATCCGAGTGCTCCA	0.552000														24			21		0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100266220	100266220	+	RNA	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:100266220C>T	uc021xqi.1	-	4		c.451G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CCTGCAGGGTCCCCCGAGGAT	0.537000														37			19		0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238555	48238555	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:48238555C>T	uc010rhs.2	+	0	194	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AGCTGCCTGTCCTTGGTGGAG	0.488000														59			41		0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202580434	202580434	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:202580434G>A	uc002uyo.3	-	24	4321	c.3965C>T	c.(3964-3966)gCt>gTt	p.A1322V	ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	1322					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CAAGGCCACAGCAATATTGTC	0.532000														62			56		0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648726	130648726	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:130648726C>T	uc001uii.3	+	0	1723	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	413					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CGTCCTTCATCCTCTCGGGCT	0.627000														34			21		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140223213	140223213	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140223213C>T	uc003lhs.2	+	0	2307	c.2307C>T	c.(2305-2307)ctC>ctT	p.L769L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.L769L	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	806					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)			AGACGGACCTCATGGCCTTCA	0.552000														23			19		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	167760034	167760034	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:167760034G>A	uc002udx.3	+	1	131	c.42G>A	c.(40-42)caG>caA	p.Q14Q	XIRP2_uc010fpn.3_Silent_p.Q14Q|XIRP2_uc010fpo.3_Silent_p.Q14Q	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	0					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						TCCTGAGGCAGAAATGGGAAT	0.473000														30			19		0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640197	57640197	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:57640197C>T	uc002qny.3	+	3	510	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	USP29_uc021vci.1_Nonsense_Mutation_p.Q52*	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	52					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGAATTTTTCAGCTGAGCAA	0.338000														3			30		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103377722	103377722	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:103377722C>T	uc001dum.3	-	53	4433	c.4115G>A	c.(4114-4116)gGa>gAa	p.G1372E	COL11A1_uc001duk.3_Missense_Mutation_p.G556E|COL11A1_uc001dul.3_Missense_Mutation_p.G1360E|COL11A1_uc001dun.3_Missense_Mutation_p.G1321E|COL11A1_uc009weh.3_Missense_Mutation_p.G1244E	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1360	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.P1371P(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TACTCGTTTTCCAGGAGGACC	0.383000														4			12		0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55905009	55905009	+	Silent	SNP	G	A	A	rs144645378		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:55905009G>A	uc010riz.2	-	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F62F(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GATGTCTCAGGAAAAAGTACA	0.438000														79			49		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123518570	123518570	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:123518570G>A	uc010nqy.3	-	29	6275	c.6211C>T	c.(6211-6213)Ctt>Ttt	p.L2071F	ODZ1_uc011muj.2_Missense_Mutation_p.L2070F|ODZ1_uc004euj.3_Missense_Mutation_p.L2064F	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2064					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						TATCGGTAAAGATCTATAGGC	0.393000														11			43		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92983035	92983035	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:92983035G>A	uc022axs.1	-	10	1754	c.1567C>T	c.(1567-1569)Ctg>Ttg	p.L523L	RUNX1T1_uc003yfc.2_Silent_p.L437L|RUNX1T1_uc010mam.3_Silent_p.L437L|RUNX1T1_uc003yfe.2_Silent_p.L427L|RUNX1T1_uc003yfd.3_Silent_p.L464L|RUNX1T1_uc022axo.1_Silent_p.L464L|RUNX1T1_uc010mao.3_Silent_p.L437L|RUNX1T1_uc011lgi.2_Silent_p.L475L|RUNX1T1_uc022axp.1_Silent_p.L464L|RUNX1T1_uc022axq.1_Silent_p.L464L|RUNX1T1_uc022axr.1_Silent_p.L464L|RUNX1T1_uc022axt.1_Silent_p.L464L|RUNX1T1_uc022axu.1_Silent_p.L444L|RUNX1T1_uc022axv.1_Silent_p.L464L|RUNX1T1_uc010man.2_Silent_p.L89L|RUNX1T1_uc003yfb.2_Silent_p.L427L	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	464					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCCTTCTGCAGCTCCGTCATC	0.597000														18			16		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158436048	158436048	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:158436048G>A	uc010pij.2	+	0	697	c.697G>A	c.(697-699)Gga>Aga	p.G233R		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	233					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)					TTCCTCCGTTGGAAGATACAA	0.443000														45			65		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189873725	189873725	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:189873725G>A	uc002uqj.1	+	47	3718	c.3601G>A	c.(3601-3603)Gga>Aga	p.G1201R		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1201	Nonhelical region (C-terminal).				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTGGTGTTGGAGCCGCTGC	0.542000														31			22		0	0	1	0	0
QRFP	347148	broad.mit.edu	37	9	133769000	133769000	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:133769000T>C	uc011mcb.2	-	0	226	c.226A>G	c.(226-228)Aca>Gca	p.T76A		NM_198180	NP_937823	P83859	OX26_HUMAN	Homo sapiens pyroglutamylated RFamide peptide (QRFP), mRNA.	76					locomotory behavior|neuropeptide signaling pathway|positive regulation of blood pressure|regulation of feeding behavior	extracellular region	neuropeptide hormone activity|orexigenic neuropeptide QRFP receptor binding	p.Q75Q(1)		cervix(1)|endometrium(3)|lung(1)|skin(2)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)		CTGCCCGATGTCTGCAGCCCC	0.667000														13			31		0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41205854	41205854	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:41205854A>G	uc004dfe.3	+	13	2449	c.1594A>G	c.(1594-1596)Acg>Gcg	p.T532A	DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Missense_Mutation_p.T532A|DDX3X_uc011mkq.2_Missense_Mutation_p.T516A|DDX3X_uc011mkr.2_Intron|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	532	Helicase C-terminal.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TATTGGTCGTACGGGACGTGT	0.378000										HNSCC(61;0.18)				11			40		0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19384447	19384447	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:19384447G>A	uc002zpf.1	-	6	737	c.517C>T	c.(517-519)Cat>Tat	p.H173Y	HIRA_uc011agx.1_Missense_Mutation_p.H39Y|HIRA_uc010grn.1_Missense_Mutation_p.H173Y|HIRA_uc010gro.2_Missense_Mutation_p.H129Y|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.	173					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	p.H173Y(2)		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)					AAGCCAGAATGACCTCTCAGA	0.488000														29			35		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168101452	168101452	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:168101452G>A	uc002udx.3	+	8	3639	c.3550G>A	c.(3550-3552)Gaa>Aaa	p.E1184K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E1009K|XIRP2_uc010fpq.3_Missense_Mutation_p.E962K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1009					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						AGAAGTGAAGGAAATCAAGCC	0.378000														25			14		0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154229842	154229842	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:154229842C>T	uc001fep.4	+	19	2541	c.2374C>T	c.(2374-2376)Cct>Tct	p.P792S	UBAP2L_uc009wot.3_Missense_Mutation_p.P792S|UBAP2L_uc010pek.2_Missense_Mutation_p.P784S|UBAP2L_uc010pel.2_Missense_Mutation_p.P802S|UBAP2L_uc010pen.2_Missense_Mutation_p.P706S|UBAP2L_uc001feq.3_5'UTR|UBAP2L_uc001fer.3_5'UTR|SNORA58_uc021pae.1_5'Flank	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.	792					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCCAACCTCCCTCCTGGGGT	0.473000														29			32		0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23438161	23438161	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:23438161C>T	uc002zwu.1	+	1	816	c.279C>T	c.(277-279)atC>atT	p.I93I	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	93						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CCCTCAGGATCGACTTCCACA	0.642000														96			56		0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15189610	15189610	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:15189610G>A	uc003zlr.2	-	12	1232	c.1195C>T	c.(1195-1197)Cat>Tat	p.H399Y	TTC39B_uc003zlq.2_Missense_Mutation_p.H302Y|TTC39B_uc011lmp.2_Missense_Mutation_p.H234Y|TTC39B_uc010mie.2_Missense_Mutation_p.H397Y|TTC39B_uc011lmr.2_Missense_Mutation_p.H330Y|TTC39B_uc011lmq.2_Intron|TTC39B_uc010mif.2_Missense_Mutation_p.H399Y|TTC39B_uc003zls.1_Missense_Mutation_p.H234Y|TTC39B_uc010mig.1_Missense_Mutation_p.H302Y|TTC39B_uc003zlp.2_5'Flank	NM_152574	NP_001161814	Q5VTQ0	TT39B_HUMAN	Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA.	333							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						ATTCGGGCATGATAAAACAAC	0.418000														5			12		0	0	1	0	0
FZD1	8321	broad.mit.edu	37	7	90896122	90896122	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:90896122G>A	uc003ula.3	+	0	2340	c.1927G>A	c.(1927-1929)Ggg>Agg	p.G643R		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	643					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CAGCAAACAAGGGGAGACTAC	0.637000														34			16		0	0	1	0	0
SUN3	256979	broad.mit.edu	37	7	48068433	48068433	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:48068433C>T	uc003tof.3	-	1	200	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	SUN3_uc003tog.3_Missense_Mutation_p.E35K|SUN3_uc011kcf.2_5'UTR	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA.	35						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCAGGATTTTCGTCCTCTGAT	0.458000														43			21		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617564	37617564	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:37617564C>T	uc002yvg.3	+	18	3365	c.3286C>T	c.(3286-3288)Cca>Tca	p.P1096S	DOPEY2_uc011aeb.2_Missense_Mutation_p.P1045S|DOPEY2_uc002yvh.3_5'UTR	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1096					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGTGGAGCTTCCAGACAGGAC	0.637000														21			27		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16026286	16026286	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:16026286C>T	uc010lsu.3	-	3	429	c.365G>A	c.(364-366)aGc>aAc	p.S122N	MSR1_uc003wwz.3_Missense_Mutation_p.S104N|MSR1_uc003wxa.3_Missense_Mutation_p.S104N|MSR1_uc003wxb.3_Missense_Mutation_p.S104N|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	104					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)		TTCCTCTTCGCTGTCATTTCC	0.398000														55			43		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102694	168102694	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:168102694G>A	uc002udx.3	+	8	4881	c.4792G>A	c.(4792-4794)Gaa>Aaa	p.E1598K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E1423K|XIRP2_uc010fpq.3_Missense_Mutation_p.E1376K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1423					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						GATACAGAAAGAAGAAATTAT	0.393000														16			15		0	0	1	0	0
CCL16	6360	broad.mit.edu	37	17	34308409	34308409	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:34308409G>A	uc002hkl.3	-	0	115	c.48C>T	c.(46-48)atC>atT	p.I16I	CCL16_uc002hkm.3_Non-coding_Transcript	NM_004590	NP_004581	O15467	CCL16_HUMAN	Homo sapiens chemokine (C-C motif) ligand 16 (CCL16), mRNA.	16					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCGAAGTAATGATAAGGATGA	0.557000														12			11		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834246	101834246	+	Silent	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:101834246A>G	uc003knn.3	-	0	475	c.303T>C	c.(301-303)tgT>tgC	p.C101C	SLCO6A1_uc003kno.3_Silent_p.C101C|SLCO6A1_uc003knp.3_Silent_p.C101C|SLCO6A1_uc003knq.3_Silent_p.C101C	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	101	Cys-rich.					integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGTTATTGCAACACTCACAGC	0.522000														39			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179440965	179440965	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:179440965G>A	uc021vsy.1	-	274	62415	c.62190C>T	c.(62188-62190)atC>atT	p.I20730I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.I14425I|TTN_uc021vta.1_Silent_p.I14358I|TTN_uc021vtb.1_Silent_p.I14233I|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21657	Fibronectin type-III 50.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGAACTGAGTGATTCTGAGGG	0.463000														25			14		0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2947360	2947361	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:2947360_2947361CC>TT	uc011mhj.2	+	7	1272_1273	c.1272_1273CC>TT	c.(1270-1275)ttccac>ttTTac	p.H425Y		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	425						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AGTTCCTCTTCCACTACTGTGG	0.569000														8			47		0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16085827	16085827	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:16085827C>T	uc002rci.3	+	2	1303	c.1003C>T	c.(1003-1005)Ccc>Tcc	p.P335S	MYCN_uc010yjr.2_Missense_Mutation_p.P335S	NM_005378	NP_005369	P04198	MYCN_HUMAN	Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA.	335					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CTATGCCGCCCCCTCTCCCTA	0.612000			A		neuroblastoma									16			11		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167023654	167023654	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:167023654G>A	uc011bpc.2	-	16	1839	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F	ZBBX_uc003feq.3_Missense_Mutation_p.S472F|ZBBX_uc003fep.3_Missense_Mutation_p.S501F	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	501						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TCTTTCAAAGGAGGTGCTTTC	0.343000														14			8		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21031117	21031117	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:21031117C>T	uc001bdr.4	-	4	1064	c.946G>A	c.(946-948)Gac>Aac	p.D316N	KIF17_uc001bds.4_Missense_Mutation_p.D316N	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	316					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TAGTTGTTGTCCGCAGGCGAC	0.612000														13			46		0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56057639	56057639	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:56057639G>A	uc010rje.2	-	0	900	c.900C>T	c.(898-900)ctC>ctT	p.L300L		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TGACTCTAATGAGAGCATTTT	0.353000														60			37		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61305175	61305175	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:61305175C>T	uc002ljf.3	-	7	1037	c.951G>A	c.(949-951)atG>atA	p.M317I	SERPINB3_uc002lje.3_Missense_Mutation_p.M296I|SERPINB3_uc002ljg.3_Missense_Mutation_p.M317I	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	317					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GGCTCCAGGTCATGCCTGAGA	0.517000														48			32		0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151820083	151820083	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:151820083C>T	uc004ffp.1	+	7	1016	c.996C>T	c.(994-996)atC>atT	p.I332I		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	332						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)					ATATCTATATCCTCGTGTGCT	0.478000														19			57		0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117079508	117079508	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:117079508C>T	uc011mtp.2	-	2	271	c.138G>A	c.(136-138)atG>atA	p.M46I	KLHL13_uc004eqk.3_5'UTR|KLHL13_uc004eql.3_Missense_Mutation_p.M43I|KLHL13_uc011mtn.2_5'UTR|KLHL13_uc011mto.2_Missense_Mutation_p.M37I|KLHL13_uc011mtq.2_Missense_Mutation_p.M27I|KLHL13_uc004eqm.3_Missense_Mutation_p.M1I|KLHL13_uc022cde.1_Missense_Mutation_p.M27I	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	43					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGGACAATTTCATGTGTTGGT	0.413000														9			15		0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33288714	33288714	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:33288714G>A	uc003oec.3	-	2	1042	c.838C>T	c.(838-840)Cct>Tct	p.P280S	ZBTB22_uc010juu.3_5'Flank|DAXX_uc021ywn.1_Missense_Mutation_p.P280S|DAXX_uc021ywo.1_Missense_Mutation_p.P280S|DAXX_uc011dre.2_Missense_Mutation_p.P292S|DAXX_uc003oed.3_Missense_Mutation_p.P280S|DAXX_uc011drd.2_Missense_Mutation_p.P205S|DAXX_uc010juw.2_Missense_Mutation_p.P205S	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	280					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						AAGGTATCAGGCCCTGGCTTG	0.617000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM									75			33		0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43119114	43119114	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:43119114G>A	uc009vwk.1	+	15	2251	c.2141_splice	c.e15+1	p.S714_splice	CCDC30_uc001chm.2_Splice_Site_p.S412_splice|CCDC30_uc001chn.2_Splice_Site_p.S503_splice	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	714										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TCAAACTCCAGGTTAGTAAAG	0.393000														31			12		0	0	1	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776559	159776559	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:159776559C>A	uc003lyd.3	-	2	613	c.609G>T	c.(607-609)aaG>aaT	p.K203N		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 2 (C1QTNF2), mRNA.	158	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)			GTGGGTAGCTCTTGGTCACTG	0.612000														86			44		1.83081e-24	1.86061e-24	1	1	0
KRT82	3888	broad.mit.edu	37	12	52799753	52799753	+	Silent	SNP	G	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:52799753G>T	uc001sai.1	-	0	424	c.309C>A	c.(307-309)gtC>gtA	p.V103V		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	Homo sapiens keratin 82 (KRT82), mRNA.	103	Head.					keratin filament	protein binding|structural constituent of epidermis	p.V103V(2)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GTGCCAGTGGGACCAGCAGGC	0.572000														57			50		3.21987e-24	3.26997e-24	1	1	0
FSCN2	25794	broad.mit.edu	37	17	79496291	79496291	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:79496291G>A	uc010wuo.2	+	0	875	c.734G>A	c.(733-735)cGa>cAa	p.R245Q	FSCN2_uc010wup.2_Missense_Mutation_p.R245Q	NM_001077182	NP_001070650	O14926	FSCN2_HUMAN	Homo sapiens fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 2, mRNA.	245					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CGAAACACGCGACCTGGCAAG	0.647000														14			4		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372792	126372792	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:126372792C>T	uc003ifj.4	+	8	10621	c.10621C>T	c.(10621-10623)Caa>Taa	p.Q3541*	FAT4_uc011cgp.2_Nonsense_Mutation_p.Q1839*|FAT4_uc003ifi.1_Nonsense_Mutation_p.Q1019*	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3541	Cadherin 34.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCCTCCAAATCAAGGTCCCTT	0.502000														77			47		0	0	1	0	0
BLNK	29760	broad.mit.edu	37	10	97969651	97969651	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:97969651C>T	uc001kls.4	-	8	867	c.689G>A	c.(688-690)gGg>gAg	p.G230E	BLNK_uc001kme.4_Missense_Mutation_p.G125E|BLNK_uc001klt.4_Missense_Mutation_p.G121E|BLNK_uc009xvc.3_Non-coding_Transcript|BLNK_uc001klu.4_Missense_Mutation_p.G148E|BLNK_uc001klv.4_Missense_Mutation_p.G125E|BLNK_uc001klw.4_Intron|BLNK_uc001klx.4_Missense_Mutation_p.G207E|BLNK_uc001kly.4_Missense_Mutation_p.G230E|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Missense_Mutation_p.G207E|BLNK_uc001kmb.4_Missense_Mutation_p.G26E|BLNK_uc001kmc.4_Intron|BLNK_uc001kmd.4_Missense_Mutation_p.G148E|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	230	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TTCCCAGGCCCCACTGTTTCG	0.587000														15			50		0	0	1	0	0
TPPP2	122664	broad.mit.edu	37	14	21498787	21498787	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:21498787G>A	uc001vzh.3	+	1	235	c.47G>A	c.(46-48)gGa>gAa	p.G16E	NDRG2_uc010tll.2_Intron	NM_173846	NP_776245	P59282	TPPP2_HUMAN	Homo sapiens tubulin polymerization-promoting protein family member 2 (TPPP2), mRNA.	16						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GCTGCGTTTGGAGAATCATCA	0.522000														12			9		0	0	1	0	0
TMEM237	65062	broad.mit.edu	37	2	202492833	202492833	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:202492833A>T	uc021vvg.1	-	9	1010	c.909T>A	c.(907-909)ttT>ttA	p.F303L	TMEM237_uc021vvd.1_Missense_Mutation_p.F98L|TMEM237_uc021vve.1_Missense_Mutation_p.F295L|TMEM237_uc021vvf.1_Missense_Mutation_p.F98L|TMEM237_uc010zho.1_Missense_Mutation_p.F98L	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN	Homo sapiens transmembrane protein 237 (TMEM237), transcript variant 1, mRNA.	327						integral to membrane	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						CCAGGGCCAAAAAATTTCGGA	0.333000														13			6		0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5925288	5925288	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:5925288G>A	uc001alq.2	-	26	3958	c.3690C>T	c.(3688-3690)ctC>ctT	p.L1230L	MIR4689_uc021ofn.1_5'Flank|NPHP4_uc001alr.1_3'UTR	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	1230					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGGAGTGGAGGTAGACCT	0.642000														0			8		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29562741	29562741	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:29562741T>A	uc002hgg.3	+	27	4204	c.3821T>A	c.(3820-3822)cTc>cAc	p.L1274H	NF1_uc002hgh.3_Missense_Mutation_p.L1274H|NF1_uc010csn.2_Missense_Mutation_p.L1134H|NF1_uc002hgi.1_Missense_Mutation_p.L307H	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1274	Ras-GAP.				MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGCAGACTCTCTTCCGAGGC	0.408000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				60			65		0	0	1	0	0
C17orf104	284071	broad.mit.edu	37	17	42745038	42745039	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:42745038_42745039GG>AA	uc002iha.3	+	4	1979_1980	c.1759_1760GG>AA	c.(1759-1761)gga>AAa	p.G587K	C17orf104_uc002igy.1_Missense_Mutation_p.G421K|C17orf104_uc002igz.3_Missense_Mutation_p.G421K|C17orf104_uc010wja.1_Non-coding_Transcript	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN	Homo sapiens chromosome 17 open reading frame 104 (C17orf104), mRNA.	587								p.N586N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						GCAGCCAAATGGATTTTGTGAT	0.351000														21			9		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125900147	125900147	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:125900147G>A	uc001uhe.1	+	2	1023	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	TMEM132B_uc021rgl.1_Missense_Mutation_p.E229K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	339						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)		GGCAGTCCAGGAGGAAATTGA	0.542000														30			29		0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42678418	42678418	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:42678418C>T	uc001zpn.1	+	2	739	c.433C>T	c.(433-435)Ctt>Ttt	p.L145F	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_Missense_Mutation_p.L58F|CAPN3_uc010udf.1_Missense_Mutation_p.L58F|CAPN3_uc010udg.1_Missense_Mutation_p.L58F|CAPN3_uc001zpo.1_Missense_Mutation_p.L145F|CAPN3_uc001zpp.1_Missense_Mutation_p.L145F	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	145	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CCAGCACCTTCTTTTCCGAGT	0.542000											OREG0023085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		82			45		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158617356	158617356	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:158617356T>A	uc001fst.1	-	26	4068	c.3869A>T	c.(3868-3870)aAa>aTa	p.K1290I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1290					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)					CAGGTAGAATTTCTGGGCCTC	0.537000														61			87		0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52586522	52586522	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:52586522G>A	uc002lfs.3	-	8	941	c.769C>T	c.(769-771)Ctg>Ttg	p.L257L	CCDC68_uc002lft.3_Silent_p.L257L	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	257										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		ACACTGCGCAGGTTCTGATGT	0.473000														72			47		0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103404697	103404697	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:103404697G>A	uc001ymi.1	-	34	5111	c.4879C>T	c.(4879-4881)Ctg>Ttg	p.L1627L		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	1627					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGGCGAGCCAGGTTGGTGGGA	0.667000														51			48		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215808020	215808020	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:215808020T>A	uc001hku.1	-	69	15465	c.15078A>T	c.(15076-15078)aaA>aaT	p.K5026N		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	5026					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)		ATCCCTTCTTTTTCCCAGGAG	0.453000										HNSCC(13;0.011)				28			55		0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240029877	240029877	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:240029877G>A	uc002vyk.4	-	14	2758	c.1966C>T	c.(1966-1968)Ctc>Ttc	p.L656F	HDAC4_uc010fyz.1_Missense_Mutation_p.L651F|HDAC4_uc010zoa.1_Missense_Mutation_p.L656F|HDAC4_uc010fza.2_Missense_Mutation_p.L661F|HDAC4_uc010fyy.3_Missense_Mutation_p.L613F|HDAC4_uc010znz.1_Missense_Mutation_p.L539F	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	656	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TCATACACGAGGCCTGGGGCG	0.687000														6			4		0	0	1	0	0
AMDHD2	51005	broad.mit.edu	37	16	2578591	2578591	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:2578591C>T	uc010uwc.2	+	7	1098	c.1001C>T	c.(1000-1002)tCc>tTc	p.S334F	AMDHD2_uc002cqp.3_Missense_Mutation_p.S334F|AMDHD2_uc002cqq.3_Intron|AMDHD2_uc010uwd.2_Missense_Mutation_p.S98F	NM_001145815	NP_001139287	Q9Y303	NAGA_HUMAN	Homo sapiens amidohydrolase domain containing 2 (AMDHD2), transcript variant 2, mRNA.	323					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GGTCCCAGGTCCCAGCCCGCA	0.677000														17			17		0	0	1	0	0
SLC38A6	145389	broad.mit.edu	37	14	61518625	61518625	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:61518625A>T	uc001xfh.2	+	13	1335	c.1171A>T	c.(1171-1173)Att>Ttt	p.I391F	SLC38A6_uc001xfg.2_Missense_Mutation_p.I391F|SLC38A6_uc001xfi.3_Non-coding_Transcript|SLC38A6_uc001xfj.1_Non-coding_Transcript|SLC38A6_uc001xfk.3_Non-coding_Transcript|SLC38A6_uc010trz.2_Missense_Mutation_p.I368F	NM_001172702	NP_001166173	Q8IZM9	S38A6_HUMAN	Homo sapiens solute carrier family 38, member 6 (SLC38A6), transcript variant 1, mRNA.	391					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TGTTCCTGACATTAGAAATGT	0.328000														24			7		0	0	1	0	0
RNF38	152006	broad.mit.edu	37	9	36390574	36390574	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:36390574G>A	uc003zzh.3	-	1	243	c.52C>T	c.(52-54)Cct>Tct	p.P18S	RNF38_uc003zzi.3_Intron|RNF38_uc003zzj.3_5'UTR|RNF38_uc003zzk.3_Intron|RNF38_uc003zzl.3_Intron|RNF38_uc003zzm.3_5'UTR	NM_022781	NP_919313	Q9H0F5	RNF38_HUMAN	Homo sapiens ring finger protein 38 (RNF38), transcript variant 1, mRNA.	18							zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			ACCTTGTTAGGATGGCCAGGT	0.488000														9			33		0	0	1	0	0
C11orf20	25858	broad.mit.edu	37	11	64070988	64070988	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:64070988G>A	uc009ypm.3	+	2	1452	c.387G>A	c.(385-387)gcG>gcA	p.A129A	KCNK4_uc001nzm.4_Non-coding_Transcript|ESRRA_uc001nzq.1_5'Flank|ESRRA_uc001nzr.1_5'Flank|ESRRA_uc001nzs.1_5'Flank	NM_001039496	NP_001034585	Q9NTU4	CK020_HUMAN	Homo sapiens chromosome 11 open reading frame 20 (C11orf20), mRNA.	129					cell differentiation|spermatogenesis	cytoplasm				kidney(1)	1						TCAATATTGCGAAGCACATGC	0.552000														12			14		0	0	1	0	0
LRRC56	115399	broad.mit.edu	37	11	552635	552635	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:552635G>A	uc010qvz.2	+	12	1753	c.1248G>A	c.(1246-1248)agG>agA	p.R416R		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.	416										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)		GCCCACGGAGGGTCCCTGAAG	0.687000														9			10		0	0	1	0	0
ADAP1	11033	broad.mit.edu	37	7	943807	943807	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:943807C>T	uc003sjo.4	-	5	797	c.604G>A	c.(604-606)Gac>Aac	p.D202N	ADAP1_uc003sjm.4_Missense_Mutation_p.D28N|ADAP1_uc011jvs.2_Missense_Mutation_p.D107N|ADAP1_uc003sjn.4_Missense_Mutation_p.D130N|ADAP1_uc010ksc.3_Missense_Mutation_p.D130N	NM_006869	NP_006860	O75689	ADAP1_HUMAN	Homo sapiens ArfGAP with dual PH domains 1 (ADAP1), mRNA.	202	PH 1.				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						GTGCTGTTGTCCTTCAGGTAG	0.647000														37			523		0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131216181	131216181	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:131216181G>A	uc003qch.2	-	8	1497	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C	EPB41L2_uc010kfl.2_Missense_Mutation_p.R439C|EPB41L2_uc003qcg.1_Missense_Mutation_p.R439C|EPB41L2_uc003qci.3_Missense_Mutation_p.R439C|EPB41L2_uc011eby.2_Missense_Mutation_p.R439C|EPB41L2_uc010kfk.2_Missense_Mutation_p.R439C	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	439	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CAAGCAAAACGATTGATTCGC	0.413000														39			32		0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128974170	128974170	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:128974170C>G	uc001lju.1	-	0	531	c.490G>C	c.(490-492)Gcg>Ccg	p.A164P	DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.A164P|FAM196A_uc001ljv.1_Missense_Mutation_p.A164P|FAM196A_uc009yap.1_Missense_Mutation_p.A164P	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.	164								p.A164V(1)		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						ACCCGCCCCGCGCCACATGGC	0.552000														11			26		0	0	1	0	0
RIMBP3	85376	broad.mit.edu	37	22	20458247	20458247	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:20458247G>A	uc002zsd.4	-	0	3540	c.3055C>T	c.(3055-3057)Cgc>Tgc	p.R1019C	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TGGGGGTGGCGGTGGCTGCTG	0.612000														9			4		0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32445929	32445929	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:32445929G>A	uc003amc.3	+	2	386	c.136_splice	c.e2-1	p.A46_splice		NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	46					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TTCCTCCTCAGGCTATGTTTT	0.488000														127			75		0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157773723	157773723	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:157773723C>T	uc001frg.3	-	2	344	c.231G>A	c.(229-231)tgG>tgA	p.W77*	FCRL1_uc001frf.3_5'Flank|FCRL1_uc001frh.3_Nonsense_Mutation_p.W77*|FCRL1_uc001fri.3_Nonsense_Mutation_p.W77*|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	77	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)			TGTCTTCTTTCCACATGGCAG	0.552000														56			68		0	0	1	0	0
THNSL2	55258	broad.mit.edu	37	2	88472834	88472834	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:88472834G>A	uc002ssy.4	+	0	1856	c.165G>A	c.(163-165)gtG>gtA	p.V55V	THNSL2_uc002ssw.4_Silent_p.V55V|THNSL2_uc002sta.4_Intron|THNSL2_uc010fhe.3_Intron|THNSL2_uc021vkq.1_Silent_p.V55V|THNSL2_uc021vkr.1_Silent_p.V55V	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA.	55					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						CTGGCCTGGTGAAGGAGCTGT	0.557000														26			30		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124395581	124395581	+	Missense_Mutation	SNP	G	A	A	rs147966171	by1000genomes	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:124395581G>A	uc001lgk.1	+	49	6342	c.6236G>A	c.(6235-6237)cGa>cAa	p.R2079Q	DMBT1_uc001lgl.1_Missense_Mutation_p.R2069Q|DMBT1_uc001lgm.1_Missense_Mutation_p.R1451Q|DMBT1_uc021qaf.1_Missense_Mutation_p.R2079Q|DMBT1_uc021qag.1_Missense_Mutation_p.R2069Q|DMBT1_uc021qah.1_Missense_Mutation_p.R1451Q|DMBT1_uc009xzz.1_Missense_Mutation_p.R2078Q|DMBT1_uc010qtx.1_Missense_Mutation_p.R799Q|DMBT1_uc009yab.1_Missense_Mutation_p.R782Q|DMBT1_uc009yac.1_Missense_Mutation_p.R373Q	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2079	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTCATTGCTCGAGTTTGTGAT	0.517000														6			19		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432758	140432758	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140432758A>G	uc003lik.1	+	0	1780	c.1703A>G	c.(1702-1704)aAc>aGc	p.N568S		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	568					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N568K(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACTGCAGAACGGCACCTTG	0.522000														31			27		0	0	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52781512	52781512	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:52781512C>T	uc001wzr.3	+	0	497	c.246C>T	c.(244-246)acC>acT	p.T82T		NM_000956	NP_000947	P43116	PE2R2_HUMAN	Homo sapiens prostaglandin E receptor 2 (subtype EP2), 53kDa (PTGER2), mRNA.	82						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	TGCTCGGGACCTGCCTCATCA	0.687000														20			20		0	0	1	0	0
CNDP2	55748	broad.mit.edu	37	18	72186193	72186193	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:72186193T>C	uc002llm.2	+	10	1479	c.1220T>C	c.(1219-1221)gTt>gCt	p.V407A	CNDP2_uc002lln.2_Missense_Mutation_p.V323A	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.	407						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GTTTTTGGTGTTGAGCCAGAC	0.547000														46			30		0	0	1	0	0
MLPH	79083	broad.mit.edu	37	2	238449466	238449466	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:238449466A>T	uc002vwt.3	+	10	1539	c.1312A>T	c.(1312-1314)Acc>Tcc	p.T438S	MLPH_uc002vws.3_Missense_Mutation_p.T295S|MLPH_uc010fyt.1_Missense_Mutation_p.T410S|MLPH_uc002vwu.3_Missense_Mutation_p.T410S|MLPH_uc002vwv.3_Intron|MLPH_uc002vww.3_Intron|MLPH_uc002vwx.3_Missense_Mutation_p.T294S	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN	Homo sapiens melanophilin (MLPH), transcript variant 1, mRNA.	438							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		TGCCCATCAAACCAACAGACA	0.592000														18			8		0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70156420	70156420	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:70156420G>A	uc003hej.3	+	4	1203	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	UGT2B28_uc010ihr.3_Intron	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	401					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.P400N(1)		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)	GGATCAACCTGATAACATTGC	0.453000														40			49		0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975895	76975895	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:76975895G>A	uc002snr.3	-	3	2114	c.1699C>T	c.(1699-1701)Cga>Tga	p.R567*	LRRTM4_uc002snq.3_Nonsense_Mutation_p.R567*	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	567						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTGTGGTCTCGGCCCAGCTCC	0.602000														53			50		0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34150245	34150245	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:34150245C>T	uc004ddg.3	-	0	203	c.151G>A	c.(151-153)Gtg>Atg	p.V51M		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	51										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						CCCTCCTTCACAAATACCCAG	0.547000														13			34		0	0	1	0	0
BAX	581	broad.mit.edu	37	19	49464068	49464068	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:49464068C>T	uc002plk.3	+	5	439	c.370_splice	c.e5-1	p.A124_splice	BAX_uc002plf.1_Splice_Site_p.A124_splice|BAX_uc002plg.1_Splice_Site_p.A87_splice|BAX_uc002plh.1_Splice_Site_p.A46_splice|BAX_uc010xzx.2_Splice_Site|BAX_uc002plj.3_Splice_Site_p.A124_splice|BAX_uc002pll.3_Splice_Site_p.A75_splice|BAX_uc002plm.3_Splice_Site_p.A46_splice	NM_138761	NP_620116	Q07812	BAX_HUMAN	Homo sapiens BCL2-associated X protein (BAX), transcript variant alpha, mRNA.	124					B cell apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|cleavage of lamin|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		TCCCCACAGGCCCTGTGCACC	0.587000														9			68		0	0	1	0	0
PCDHB9	56127	broad.mit.edu	37	5	140568987	140568987	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140568987C>T	uc003liw.1	+	1	2093	c.2093C>T	c.(2092-2094)tCg>tTg	p.S698L	PCDHB10_uc003lix.3_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	699					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGGTGTCTTCGCTCTTCCTC	0.697000														91			38		0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27028485	27028485	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:27028485G>A	uc010crt.3	+	37	5215	c.5023G>A	c.(5023-5025)Gga>Aga	p.G1675R	SUPT6H_uc002hby.3_Missense_Mutation_p.G1675R	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1675					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CATCGACTGGGGAAAAATGGC	0.567000														38			15		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128135060	128135060	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:128135060G>A	uc011ebt.2	-	3	875	c.726C>T	c.(724-726)atC>atT	p.I242I	THEMIS_uc010kfa.3_Silent_p.I145I|THEMIS_uc021zfa.1_Silent_p.I242I|THEMIS_uc010kfb.3_Silent_p.I207I	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	242	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GGAGGATGCGGATTATATCTT	0.338000														39			27		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848829	73848829	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:73848829C>T	uc003xzb.3	+	2	1827	c.1239C>T	c.(1237-1239)atC>atT	p.I413I		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	413					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)			CCCTTCCTATCCCAATTATTG	0.443000														37			36		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26700092	26700092	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:26700092T>C	uc002rhk.3	-	20	2598	c.2471A>G	c.(2470-2472)aAg>aGg	p.K824R	OTOF_uc002rhh.3_Missense_Mutation_p.K77R|OTOF_uc002rhi.3_Missense_Mutation_p.K134R|OTOF_uc002rhj.3_Missense_Mutation_p.K77R	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	824					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)					CAGCCTCAGCTTGTCCCGCAC	0.652000														11			10		0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138828016	138828016	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:138828016C>T	uc004faz.3	-	25	2937	c.2838_splice	c.e25-1	p.M946_splice	ATP11C_uc004fax.3_Splice_Site_p.M154_splice|ATP11C_uc004fay.3_Splice_Site|ATP11C_uc004fba.3_Splice_Site_p.M946_splice	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	946					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CAGAAATTTTCCTATTGAGAA	0.403000														8			34		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	82660706	82660706	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:82660706G>A	uc010vns.2	+	0	308	c.44G>A	c.(43-45)cGa>cAa	p.R15Q	CDH13_uc021tlw.1_Silent_p.P3P|CDH13_uc010chh.3_Silent_p.P3P|CDH13_uc002fgx.3_Silent_p.P3P|CDH13_uc010vnt.2_5'UTR|CDH13_uc010vnu.2_Silent_p.P3P	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	0					Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AAATGCAGCCGAGAACTCCGC	0.627000														3			5		0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911095	230911095	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:230911095C>T	uc002vqd.2	-	3	1206	c.747G>A	c.(745-747)aaG>aaA	p.K249K	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.K249K|SLC16A14_uc002vqf.3_Silent_p.K249K	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	249						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GCCCACCATCCTTCTCTTCTG	0.587000														74			41		0	0	1	0	0
ZACN	353174	broad.mit.edu	37	17	74077799	74077799	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:74077799G>A	uc002jqn.2	+	6	926	c.843G>A	c.(841-843)caG>caA	p.Q281Q	ZACN_uc002jqo.2_Non-coding_Transcript|ZACN_uc010dgu.2_Non-coding_Transcript|EXOC7_uc002jqp.2_3'UTR|EXOC7_uc010dgv.2_3'UTR|EXOC7_uc010wsv.2_3'UTR|EXOC7_uc002jqs.3_3'UTR|EXOC7_uc010wsw.2_3'UTR|EXOC7_uc002jqq.3_3'UTR|EXOC7_uc010wsx.2_3'UTR|EXOC7_uc002jqr.3_3'UTR	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	Homo sapiens zinc activated ligand-gated ion channel (ZACN), mRNA.	281	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CCCTGGTGCAGGCCCTGCCCA	0.632000														30			26		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99662304	99662304	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:99662304G>A	uc010nmz.3	-	0	2968	c.1292C>T	c.(1291-1293)cCc>cTc	p.P431L	PCDH19_uc004efw.4_Missense_Mutation_p.P431L|PCDH19_uc004efx.4_Missense_Mutation_p.P431L	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	431	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V430M(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTGCAGCATGGGCACGCCGCC	0.557000														14			46		0	0	1	0	0
CNNM2	54805	broad.mit.edu	37	10	104679714	104679714	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:104679714G>A	uc001kwm.3	+	0	1640	c.1477G>A	c.(1477-1479)Gac>Aac	p.D493N	CNNM2_uc001kwn.3_Missense_Mutation_p.D493N|CNNM2_uc001kwl.3_Missense_Mutation_p.D493N	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	493	CBS 1.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAATATCGTGGACCTGCTGTT	0.512000														12			40		0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151123209	151123209	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:151123209G>A	uc004ffi.3	-	8	1539	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_Non-coding_Transcript	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	495					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)					AGAGCACATTGAAGAAGAAGA	0.537000														6			10		0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122354921	122354921	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:122354921G>A	uc003efm.2	+	11	2077	c.2011G>A	c.(2011-2013)Gaa>Aaa	p.E671K	PARP15_uc003efn.2_Missense_Mutation_p.E476K|PARP15_uc003efo.1_Missense_Mutation_p.E418K|PARP15_uc003efp.1_Missense_Mutation_p.E437K|PARP15_uc011bjt.1_Missense_Mutation_p.E368K	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA.	649					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GGCTTACCCAGAATATCTCAT	0.353000														21			9		0	0	1	0	0
KLF3	51274	broad.mit.edu	37	4	38690482	38690482	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:38690482C>T	uc003gth.4	+	2	666	c.334C>T	c.(334-336)Cca>Tca	p.P112S	KLF3_uc003gtg.2_Missense_Mutation_p.P112S	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	112	Pro-rich.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						ACCCCCTTCTCCAGGCGTGCA	0.627000														39			29		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55153697	55153697	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:55153697T>A	uc003han.4	+	18	2994	c.2663T>A	c.(2662-2664)aTc>aAc	p.I888N	PDGFRA_uc003haa.3_Missense_Mutation_p.I648N	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	888	Protein kinase.				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			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)	CTCTGGGAGATCTTTTCCCTT	0.488000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				49			44		0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48082087	48082087	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:48082087G>A	uc003gxx.4	-	10	1101	c.1015C>T	c.(1015-1017)Ctt>Ttt	p.L339F	TXK_uc010igj.3_Non-coding_Transcript|TXK_uc011bzj.2_Missense_Mutation_p.L26F	NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	339	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						ACAATGTAAAGGGGCTTCCGC	0.413000														33			25		0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33945142	33945142	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:33945142C>T	uc001bxj.4	+	1	420	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C	ZSCAN20_uc001bxk.2_Missense_Mutation_p.R85C|ZSCAN20_uc009vui.3_Missense_Mutation_p.R85C	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	85	SCAN box.				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GCCGGAGATCCGTCTCAAAGA	0.612000														3			26		0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31521270	31521270	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:31521270G>A	uc003jhg.2	-	4	1266	c.907C>T	c.(907-909)Ctg>Ttg	p.L303L	DROSHA_uc003jhh.2_Silent_p.L303L|DROSHA_uc003jhi.2_Silent_p.L303L|DROSHA_uc010iui.1_Intron	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	303	Arg-rich.				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						GACCTTTCCAGAGATGGTGAT	0.403000														94			76		0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725215	87725215	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:87725215C>T	uc003pli.3	+	1	866	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	HTR1E_uc021zcg.1_Nonsense_Mutation_p.Q55*	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	55					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GAAGCTCCACCAGCCTGCCAA	0.542000														37			32		0	0	1	0	0
PMM2	5373	broad.mit.edu	37	16	8900254	8900255	+	Missense_Mutation	DNP	CC	TT	TT	rs80338700		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:8900254_8900255CC>TT	uc002czf.4	+	3	407_408	c.337_338CC>TT	c.(337-339)ccg>TTg	p.P113L	PMM2_uc010uyf.2_Non-coding_Transcript|PMM2_uc010uyg.2_Missense_Mutation_p.P30L|PMM2_uc010uyh.2_Intron|PMM2_uc010buj.3_Non-coding_Transcript|PMM2_uc010uyi.2_Intron|PMM2_uc010uye.1_Missense_Mutation_p.P113L	NM_000303	NP_000294	O15305	PMM2_HUMAN	Homo sapiens phosphomannomutase 2 (PMM2), mRNA.	113			P -> L (in CDG1A).		GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity	p.P113S(2)		breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						AATTAAACTCCCGAAGAAGAGG	0.401000														20			13		0	0	1	0	0
ING5	84289	broad.mit.edu	37	2	242648673	242648673	+	Missense_Mutation	SNP	C	T	T	rs148805882	byFrequency	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:242648673C>T	uc002wcd.3	+	2	177	c.152C>T	c.(151-153)tCc>tTc	p.S51F	ING5_uc021vzk.1_Missense_Mutation_p.S51F	NM_032329	NP_115705	Q8WYH8	ING5_HUMAN	Homo sapiens inhibitor of growth family, member 5 (ING5), mRNA.	51					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-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;0.0839)		GAGTACATCTCCACGGTGAAG	0.527000														90			66		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223283800	223283800	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:223283800G>A	uc021pjl.1	-	0	2574	c.2574C>T	c.(2572-2574)tcC>tcT	p.S858S	TLR5_uc001hnv.2_Silent_p.S858S|TLR5_uc001hnw.2_Silent_p.S858S	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	858			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)		CCTTTGATTAGGAGATGGTTG	0.363000														45			45		0	0	1	0	0
ATL1	51062	broad.mit.edu	37	14	51057789	51057789	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:51057789A>G	uc021rsw.1	+	2	654	c.413A>G	c.(412-414)aAa>aGa	p.K138R	ATL1_uc001wyd.4_Missense_Mutation_p.K138R|ATL1_uc001wyf.4_Missense_Mutation_p.K138R|ATL1_uc001wye.4_Missense_Mutation_p.K138R|ATL1_uc021rsx.1_Missense_Mutation_p.K138R	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.	138					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	Golgi cis cisterna|Golgi membrane|axon|endoplasmic reticulum membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CCTGATGGTAAAAAGGTATGA	0.343000														10			13		0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207457427	207457427	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:207457427C>T	uc002vbq.3	+	21	2268	c.2045C>T	c.(2044-2046)tCc>tTc	p.S682F	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	682					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		ATTCCAACTTCCTTCTACCAT	0.383000														40			18		0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99364064	99364064	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:99364064G>A	uc003urv.2	-	8	908	c.801C>T	c.(799-801)caC>caT	p.H267H	CYP3A4_uc003urw.2_Silent_p.H266H|CYP3A4_uc011kiz.2_Silent_p.H226H	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	267					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)	AATCCACTCGGTGCTAGAAGC	0.448000														26			20		0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117280472	117280472	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:117280472C>T	uc001prc.3	+	29	4034	c.3887C>T	c.(3886-3888)tCc>tTc	p.S1296F	CEP164_uc001prb.3_Missense_Mutation_p.S1291F|CEP164_uc001prf.3_Intron|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Missense_Mutation_p.S721F	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	1296					DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CTCCTCGCCTCCATGCCAGCC	0.657000														19			50		0	0	1	0	0
DLL4	54567	broad.mit.edu	37	15	41224549	41224549	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:41224549G>A	uc001zng.2	+	5	1090	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	Homo sapiens delta-like 4 (Drosophila) (DLL4), mRNA.	252	EGF-like 2.				Notch receptor processing|Notch signaling pathway|blood circulation|cell communication|cell differentiation	integral to membrane|plasma membrane	Notch binding|calcium ion binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCTGTGTAACGAATGCATCCC	0.622000														122			44		0	0	1	0	0
AASDH	132949	broad.mit.edu	37	4	57216218	57216218	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:57216218G>A	uc003hbn.3	-	10	1852	c.1699C>T	c.(1699-1701)Ctg>Ttg	p.L567L	AASDH_uc010ihb.3_Silent_p.L82L|AASDH_uc003hbo.3_Silent_p.L467L|AASDH_uc011caa.2_Silent_p.L414L|AASDH_uc011cab.2_Silent_p.L82L|AASDH_uc010ihc.3_Silent_p.L567L|AASDH_uc003hbp.3_Silent_p.L567L	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.	567	Acyl carrier.				fatty acid metabolic process		ATP binding|acid-thiol ligase activity|acyl carrier activity|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GGGAGATTCAGAGTAGACTAC	0.388000														6			3		0	0	1	0	0
SHC4	399694	broad.mit.edu	37	15	49254728	49254728	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:49254728G>A	uc001zxb.1	-	0	914	c.485C>T	c.(484-486)tCg>tTg	p.S162L		NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) family, member 4 (SHC4), mRNA.	162	CH2.				intracellular signal transduction	cell junction|postsynaptic membrane		p.S162L(2)		breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		AAGCGGGCACGAATCAGGGGT	0.612000														52			18		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5462795	5462795	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:5462795G>A	uc002gci.3	-	3	1776	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	NLRP1_uc002gcg.1_Silent_p.F407F|NLRP1_uc002gch.4_Silent_p.F407F|NLRP1_uc002gck.3_Silent_p.F407F|NLRP1_uc002gcj.3_Silent_p.F407F|NLRP1_uc002gcl.3_Silent_p.F407F|NLRP1_uc010clh.3_Silent_p.F407F	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	407	NACHT.				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)				CATCGAGGATGAAGAGCAGCC	0.592000														24			19		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144828697	144828697	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:144828697C>T	uc009wig.1	+	21	2930	c.2736C>T	c.(2734-2736)ttC>ttT	p.F912F	NBPF10_uc010oxo.1_Silent_p.F839F|NBPF10_uc010oxn.1_Silent_p.F812F|NBPF10_uc021oth.1_Silent_p.F574F|NBPF10_uc021otj.1_Silent_p.F941F|NBPF10_uc021oto.1_Silent_p.F729F|NBPF10_uc021otr.1_Silent_p.F241F|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Silent_p.F485F|NBPF10_uc010oyd.1_Silent_p.F241F|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	914										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ACATCAGCTTCGCCCTTTACG	0.428000														199			7		0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44837464	44837464	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:44837464C>T	uc002zdf.2	-	12	2062	c.1935G>A	c.(1933-1935)cgG>cgA	p.R645R		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	645					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						TCCAGCCCTCCCGGCTGCCGG	0.751000														7			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179455074	179455074	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:179455074C>T	uc021vsy.1	-	252	53899	c.53674G>A	c.(53674-53676)Gaa>Aaa	p.E17892K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E11587K|TTN_uc021vta.1_Missense_Mutation_p.E11520K|TTN_uc021vtb.1_Missense_Mutation_p.E11395K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18819	Fibronectin type-III 29.						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)			TCTGCTAGTTCTCTTGGCTCA	0.418000														39			31		0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000														35			6		0	0	1	0	0
DDX28	55794	broad.mit.edu	37	16	68057103	68057103	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:68057103C>T	uc002evh.2	-	0	668	c.3G>A	c.(1-3)atG>atA	p.M1I	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.	1						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)		GCGTTAGAGCCATGTTTCCCT	0.682000														11			8		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712501	121712501	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:121712501C>T	uc003ees.3	-	6	1298	c.1095G>A	c.(1093-1095)agG>agA	p.R365R	ILDR1_uc003eeq.3_Silent_p.R333R|ILDR1_uc003eer.3_Silent_p.R321R|ILDR1_uc010hrg.3_Silent_p.R276R	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	365						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TTCTCCCCTCCCTCAGATCCC	0.597000														34			19		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41181522	41181522	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:41181522C>T	uc003jmk.2	-	6	1076	c.866G>A	c.(865-867)aGa>aAa	p.R289K	C6_uc003jml.1_Missense_Mutation_p.R289K	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	289	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ATTTTCACTTCTCTTTGAGGA	0.363000														47			23		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140740843	140740843	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140740843G>A	uc003ljs.2	+	0	1141	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc011dar.2_Missense_Mutation_p.E381K	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	384	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAAATGGAGAAGTTTACTG	0.453000														38			35		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18054713	18054713	+	Silent	SNP	A	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:18054713A>C	uc021trm.1	+	38	7878	c.7659A>C	c.(7657-7659)tcA>tcC	p.S2553S	MYO15A_uc021trl.1_Silent_p.S2551S|MYO15A_uc010vxi.2_5'Flank|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2553	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)					CCACAGCTTCACCCTCCCCAG	0.617000														33			17		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106982947	106982947	+	Silent	SNP	C	T	T	rs12252190		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:106982947C>T	uc001kyi.1	+	19	3035	c.2808C>T	c.(2806-2808)gtC>gtT	p.V936V	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	936						integral to membrane	neuropeptide receptor activity	p.V936F(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)		TCAGTGCAGTCGTGTGGCCCA	0.443000														22			58		0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21896825	21896825	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:21896825G>A	uc001bet.3	+	7	1077	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	ALPL_uc010odo.2_Missense_Mutation_p.E219K|ALPL_uc010odp.2_Missense_Mutation_p.E197K|ALPL_uc010odn.2_Missense_Mutation_p.E222K|ALPL_uc001beu.4_Missense_Mutation_p.E274K	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	274					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GAACCGCACGGAACTCCTGAC	0.617000														27			20		0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517122	158517122	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:158517122G>A	uc010pil.2	-	0	774	c.774C>T	c.(772-774)tcC>tcT	p.S258S		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	258					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)					AAAGTGTCATGGAATAGAAGA	0.498000														88			34		0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160484639	160484639	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:160484639C>T	uc003qta.3	+	26	4011	c.3863C>T	c.(3862-3864)cCg>cTg	p.P1288L		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1288					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AAGCGGGAACCGCAGGGATTT	0.428000														29			20		0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65499177	65499177	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:65499177C>T	uc002aon.2	-	3	548	c.367G>A	c.(367-369)Gag>Aag	p.E123K		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	123					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		p.R122T(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GGCCGCTGCTCCCTGTTGAGG	0.642000														80			31		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	430940	430940	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:430940G>A	uc003bot.3	+	19	2895	c.2253G>A	c.(2251-2253)ttG>ttA	p.L751L	CHL1_uc003bou.3_Silent_p.L735L|CHL1_uc003bow.2_Silent_p.L735L|CHL1_uc011asi.2_Silent_p.L751L	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	735	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		tttagcctttgaaatccatgg	0.468000														9			12		0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114472711	114472711	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:114472711G>A	uc003kqs.3	-	6	1741	c.1232C>T	c.(1231-1233)tCc>tTc	p.S411F	TRIM36_uc011cwc.2_Missense_Mutation_p.S399F|TRIM36_uc003kqt.3_Missense_Mutation_p.S256F	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	411	COS.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AGAGAAAAAGGATAATTCTCC	0.348000														16			12		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21489216	21489216	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:21489216G>A	uc002kuq.3	+	54	7201	c.7115G>A	c.(7114-7116)aGa>aAa	p.R2372K	LAMA3_uc002kur.3_Missense_Mutation_p.R2316K|LAMA3_uc002kus.4_Missense_Mutation_p.R763K|LAMA3_uc002kut.4_Missense_Mutation_p.R707K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2372	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACATGGACAGAATACGAGAA	0.453000														37			30		0	0	1	0	0
RBCK1	10616	broad.mit.edu	37	20	411013	411013	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:411013G>A	uc002wdp.4	+	11	2165	c.1472G>A	c.(1471-1473)gGg>gAg	p.G491E	RBCK1_uc002wdq.4_Missense_Mutation_p.G449E|RBCK1_uc010fzy.3_Non-coding_Transcript|RBCK1_uc002wdr.4_Missense_Mutation_p.G321E	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	Homo sapiens RanBP-type and C3HC4-type zinc finger containing 1 (RBCK1), transcript variant 2, mRNA.	491					T cell receptor signaling pathway|interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				GACACCAGCGGGGGCTGCCGC	0.632000														25			13		0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41599627	41599627	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:41599627C>T	uc002opt.3	+	5	933	c.924C>T	c.(922-924)acC>acT	p.T308T		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	308					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CCGTGAGCACCACCCTGCGCT	0.567000														10			83		0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35370328	35370328	+	Missense_Mutation	SNP	C	T	T	rs143686793		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:35370328C>T	uc003zwr.3	+	11	1520	c.1228C>T	c.(1228-1230)Ctc>Ttc	p.L410F	UNC13B_uc010mkl.1_Silent_p.G417G|UNC13B_uc003zwq.3_Missense_Mutation_p.L410F	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	410					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity	p.G409V(2)		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)			AGCCGGAGGGCTCTATGGCAT	0.512000														8			20		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54804701	54804701	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:54804701C>T	uc003pck.3	+	4	1048	c.932C>T	c.(931-933)tCt>tTt	p.S311F		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	311										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CATTCGGTGTCTTCATTAGCA	0.428000														32			26		0	0	1	0	0
CXXC5	51523	broad.mit.edu	37	5	139060348	139060348	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:139060348C>T	uc010jfg.1	+	1	530	c.240C>T	c.(238-240)tcC>tcT	p.S80S	CXXC5_uc003let.2_Silent_p.S80S	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	Homo sapiens CXXC finger protein 5 (CXXC5), mRNA.	80					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCGCTCTCCCACTACTCTT	0.642000														74			33		0	0	1	0	0
KRT33A	3883	broad.mit.edu	37	17	39505678	39505678	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:39505678G>A	uc002hwk.1	-	1	388	c.351C>T	c.(349-351)atC>atT	p.I117I		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	117	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TGCTGCACAGGATCTAGAAGG	0.498000														16			17		0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71531783	71531783	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:71531783C>T	uc009zrt.1	-	4	556	c.394G>A	c.(394-396)Ggg>Agg	p.G132R	TSPAN8_uc001swk.1_Missense_Mutation_p.G132R|TSPAN8_uc001swj.1_Missense_Mutation_p.G132R	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	132					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)			TCACTTTCCCCTGTGGCGCTC	0.348000														207			134		0	0	1	0	0
CXorf58	254158	broad.mit.edu	37	X	23929948	23929948	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:23929948T>A	uc004daz.1	+	2	535	c.191T>A	c.(190-192)cTc>cAc	p.L64H	CXorf58_uc011mju.1_Missense_Mutation_p.L64H	NM_152761	NP_689974	Q96LI9	CX058_HUMAN	Homo sapiens chromosome X open reading frame 58 (CXorf58), transcript variant 1, mRNA.	64										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						ATATTTCGACTCCTAAAACAC	0.303000														36			44		0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1547058	1547058	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:1547058C>T	uc002cly.3	+	3	926	c.635C>T	c.(634-636)tCc>tTc	p.S212F	TELO2_uc010uvg.1_Missense_Mutation_p.S212F	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	212						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)				TCCTCCGTGTCCTTCGTGTCT	0.612000														10			12		0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59112065	59112065	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:59112065C>T	uc002iyv.4	+	17	1830	c.1721C>T	c.(1720-1722)tCg>tTg	p.S574L	BCAS3_uc010wow.1_Missense_Mutation_p.S346L|BCAS3_uc002iyu.4_Missense_Mutation_p.S559L|BCAS3_uc002iyw.4_Missense_Mutation_p.S555L|BCAS3_uc002iyy.4_Missense_Mutation_p.S330L|BCAS3_uc002iyz.4_Missense_Mutation_p.S128L|BCAS3_uc002iza.4_Missense_Mutation_p.S113L	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	574						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CCCAGCAAATCGATGGGCGGA	0.348000														33			22		0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528033	157528033	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:157528033G>T	uc003qqp.3	+	18	5719	c.5719G>T	c.(5719-5721)Gag>Tag	p.E1907*	ARID1B_uc003qqo.3_Nonsense_Mutation_p.E1920*|ARID1B_uc003qqn.3_Nonsense_Mutation_p.E1960*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1907					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAAGCTGCTGGAGGACGAGCC	0.567000														54			31		1.55811e-20	1.58012e-20	1	1	0
ADAM18	8749	broad.mit.edu	37	8	39442148	39442148	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:39442148C>T	uc003xni.3	+	0	62	c.7C>T	c.(7-9)Ctt>Ttt	p.L3F	ADAM18_uc003xnh.3_Missense_Mutation_p.L3F|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.L3F	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	3					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AGCCATGTTCCTTCTCCTCGC	0.627000														30			24		0	0	1	0	0
WASL	8976	broad.mit.edu	37	7	123346839	123346839	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:123346839A>C	uc003vkz.3	-	2	622	c.294T>G	c.(292-294)ttT>ttG	p.F98L		NM_003941	NP_003932	O00401	WASL_HUMAN	Homo sapiens Wiskott-Aldrich syndrome-like (WASL), mRNA.	98	WH1.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TATTATATACAAAGTTATTGT	0.289000														28			17		0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1617024	1617024	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:1617024C>T	uc002wfm.1	-	2	623	c.558G>A	c.(556-558)ggG>ggA	p.G186G	SIRPG_uc002wfn.1_Silent_p.G186G|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	186	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						AGAGCTCATTCCCATTTTTGA	0.577000														58			27		0	0	1	0	0
C12orf4	57102	broad.mit.edu	37	12	4609424	4609424	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:4609424C>T	uc001qms.3	-	10	1408	c.1320G>A	c.(1318-1320)tcG>tcA	p.S440S	C12orf4_uc001qmt.3_Silent_p.S440S	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	Homo sapiens chromosome 12 open reading frame 4 (C12orf4), mRNA.	440										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TGATGTTTCCCGATTTCACAT	0.408000														27			20		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62190680	62190680	+	Silent	SNP	G	A	A	rs141769251		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:62190680G>A	uc002yfm.2	-	19	8761	c.7869C>T	c.(7867-7869)ctC>ctT	p.L2623L	PRIC285_uc002yfl.1_Silent_p.L2054L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	2623					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)			AGAAGTCCAGGAGGCTACGCC	0.647000														15			9		0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123264794	123264794	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:123264794G>A	uc003vku.1	+	7	915	c.623G>A	c.(622-624)gGa>gAa	p.G208E	ASB15_uc003vkv.1_Missense_Mutation_p.G208E|ASB15_uc003vkw.1_Missense_Mutation_p.G208E	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	208					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CTGAGAGATGGATTTGGAGTC	0.488000											OREG0018282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			7		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27455060	27455060	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:27455060C>T	uc002rji.3	+	16	2775	c.2613C>T	c.(2611-2613)ttC>ttT	p.F871F	CAD_uc010eyw.3_Silent_p.F808F	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	871	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GTCTTGGCTTCTCAGACAAAC	0.547000														37			31		0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44604989	44604989	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:44604989C>T	uc002oyh.2	+	3	368	c.51C>T	c.(49-51)ttC>ttT	p.F17F		NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	Homo sapiens zinc finger protein 224 (ZNF224), mRNA.	17	KRAB.				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)				CTGTGGTCTTCACTGAGGAAG	0.522000														126			44		0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13850827	13850827	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:13850827C>T	uc010gcf.3	-	12	1209	c.1127G>A	c.(1126-1128)gGg>gAg	p.G376E	SEL1L2_uc002woq.4_Missense_Mutation_p.G237E|SEL1L2_uc010zrl.2_Missense_Mutation_p.G376E|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	376						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AAGACCAAGCCCATGAAGGCC	0.328000														40			18		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64529517	64529517	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:64529517C>T	uc001xgl.3	+	49	10346	c.10116C>T	c.(10114-10116)taC>taT	p.Y3372Y	SYNE2_uc001xgm.3_Silent_p.Y3372Y|SYNE2_uc021ruh.1_Silent_p.Y3405Y|SYNE2_uc010apw.1_Silent_p.Y78Y	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	3372					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)		AGGATATTTACACTAACCTCA	0.368000														20			10		0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37901701	37901701	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:37901701G>A	uc002hsr.3	+	10	1394	c.1119G>A	c.(1117-1119)gtG>gtA	p.V373V	GRB7_uc002hss.3_Silent_p.V373V|GRB7_uc021twu.1_Silent_p.V396V|GRB7_uc010cwc.3_Silent_p.V373V|GRB7_uc002hst.3_Silent_p.V373V	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	373					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ATACCCTGGTGGCCATGGACT	0.622000														27			26		0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136501635	136501635	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:136501635C>T	uc004cel.3	+	0	151	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	48					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)	GAGCCCCCTCCCCTATCACAT	0.642000														3			22		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212587164	212587164	+	Silent	SNP	G	A	A	rs151042332		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:212587164G>A	uc002veg.1	-	6	935	c.837C>T	c.(835-837)ttC>ttT	p.F279F	ERBB4_uc002veh.1_Silent_p.F279F|ERBB4_uc010zji.1_Silent_p.F279F|ERBB4_uc010zjj.1_Silent_p.F279F|ERBB4_uc010fut.1_Silent_p.F279F	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.	279	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)		ACTTTGCATTGAAATTGTGCT	0.378000										TSP Lung(8;0.080)				15			12		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78516158	78516158	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:78516158C>T	uc001syp.3	+	15	4361	c.4188C>T	c.(4186-4188)gtC>gtT	p.V1396V	NAV3_uc001syo.3_Silent_p.V1396V|NAV3_uc010sub.2_Silent_p.V896V|NAV3_uc009zsf.3_Intron	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1396	Ser-rich.					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						CTCACGAGGTCCAGAGCCTGC	0.547000										HNSCC(70;0.22)				39			23		0	0	1	0	0
TYRP1	7306	broad.mit.edu	37	9	12698628	12698628	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:12698628T>G	uc003zkv.4	+	3	1064	c.886T>G	c.(886-888)Tat>Gat	p.Y296D		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	296					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)		CTTGGAAGATTATGATACCCT	0.398000									Oculocutaneous Albinism					8			13		0	0	1	0	0
ANGPT4	51378	broad.mit.edu	37	20	896668	896668	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:896668C>T	uc002wei.3	-	0	293	c.190G>A	c.(190-192)Gac>Aac	p.D64N	ANGPT4_uc010zpn.2_Missense_Mutation_p.D58N	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	64					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GTGTTGGAGTCCCTGGAGACC	0.607000														50			43		0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69148556	69148556	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:69148556G>A	uc010cfh.3	+	3	1273	c.1049G>A	c.(1048-1050)tGg>tAg	p.W350*	HAS3_uc002ewk.3_Intron|HAS3_uc002ewl.3_Nonsense_Mutation_p.W350*	NM_001199280	NP_001186209	O00219	HAS3_HUMAN	Homo sapiens hyaluronan synthase 3 (HAS3), transcript variant 3, mRNA.	350					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TACCTCCGGTGGCTCAACCAG	0.572000														44			26		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109318280	109318280	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:109318280C>T	uc010agk.2	+	1	697	c.75C>T	c.(73-75)atC>atT	p.I25I	MYO16_uc001vqt.1_Silent_p.I3I	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	3					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.R24H(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)			AGATGGAAATCGACCAGTGCT	0.493000														42			19		0	0	1	0	0
ZNF10	7556	broad.mit.edu	37	12	133727701	133727701	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:133727701A>T	uc009zzb.3	+	2	568	c.121A>T	c.(121-123)Aat>Tat	p.N41Y	ZNF268_uc010tbv.1_5'UTR|ZNF10_uc001ulq.3_Missense_Mutation_p.N41Y	NM_015394	NP_056209	P21506	ZNF10_HUMAN	Homo sapiens zinc finger protein 10 (ZNF10), mRNA.	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CGTGTACAGAAATGTGATGCT	0.448000														46			42		0	0	1	0	0
PRKAG1	5571	broad.mit.edu	37	12	49397577	49397577	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:49397577C>T	uc001rsy.3	-	8	772	c.666G>A	c.(664-666)caG>caA	p.Q222Q	PRKAG1_uc010smd.2_Silent_p.Q190Q|PRKAG1_uc001rsz.3_Silent_p.Q231Q	NM_002733	NP_001193639	P54619	AAKG1_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 1 non-catalytic subunit (PRKAG1), transcript variant 1, mRNA.	222	CBS 3.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						AGACTCGATGCTGTACAAAAA	0.542000														80			55		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56204774	56204774	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:56204774C>T	uc002lhj.4	-	4	2859	c.2645G>A	c.(2644-2646)gGc>gAc	p.G882D	ALPK2_uc002lhk.1_Missense_Mutation_p.G213D	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	882							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GACTGAGTTGCCGTCCTTGCT	0.438000														26			18		0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955962	18955962	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:18955962C>T	uc001mpg.3	-	0	588	c.370G>A	c.(370-372)Gtc>Atc	p.V124I		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	124					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						GGCCACAGGACGGACAGGCAG	0.602000														76			28		0	0	1	0	0
SERPINF2	5345	broad.mit.edu	37	17	1657526	1657526	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:1657526G>A	uc002ftk.1	+	9	1251	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	SERPINF2_uc010vqr.1_Missense_Mutation_p.E328K|SERPINF2_uc021tnm.1_Missense_Mutation_p.E392K	NM_000934	NP_001159392	P08697	A2AP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 (SERPINF2), transcript variant 1, mRNA.	392					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	GGTCGGCGTGGAGGCGGCGGC	0.652000														69			41		0	0	1	0	0
SPHK2	56848	broad.mit.edu	37	19	49132047	49132047	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:49132047C>T	uc002pjw.3	+	4	1865	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	SPHK2_uc010xzt.2_Missense_Mutation_p.R269C|SPHK2_uc002pjt.3_Missense_Mutation_p.R122C|SPHK2_uc002pjr.3_Missense_Mutation_p.R328C|SPHK2_uc002pjs.3_Missense_Mutation_p.R328C|SPHK2_uc002pju.3_Intron|SPHK2_uc002pjv.3_Missense_Mutation_p.R292C	NM_001204160	NP_001191089	Q9NRA0	SPHK2_HUMAN	Homo sapiens sphingosine kinase 2 (SPHK2), transcript variant 4, mRNA.	328					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|Ras GTPase binding|diacylglycerol kinase activity|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CTCGGGCTCCCGCTGTTTCTC	0.647000														13			133		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196646674	196646674	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:196646674C>T	uc001gtj.4	+	4	736	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	CFH_uc001gti.4_Missense_Mutation_p.R166W|CFH_uc009wyw.3_Missense_Mutation_p.R166W|CFH_uc009wyx.3_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	166	Sushi 3.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGAACCAGATCGGGAATACCA	0.393000														32			41		0	0	1	0	0
EZR	7430	broad.mit.edu	37	6	159206568	159206568	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:159206568G>A	uc003qrt.4	-	3	455	c.240C>T	c.(238-240)ttC>ttT	p.F80F	EZR_uc011efs.2_Silent_p.F48F|EZR_uc003qru.4_Silent_p.F80F	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	80	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		ACTTGGCCCGGAACTTGAACT	0.532000			T	ROS1	NSCLC									29			20		0	0	1	0	0
DL490867	0	broad.mit.edu	37	17	19015619	19015619	+	RNA	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:19015619C>T	uc010vym.1	-	0		c.38G>A								Novel nucleic acids.																		GCCGTCACCGCTGAAACAGGA	0.547000														44			5		0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35026574	35026574	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:35026574C>T	uc003jjf.3	-	7	1054	c.811G>A	c.(811-813)Gat>Aat	p.D271N	AGXT2_uc003jje.1_5'Flank|AGXT2_uc011com.2_Missense_Mutation_p.D271N	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	271					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	CTCAGCGTATCTTTGAATTGC	0.393000														26			7		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507651	155507651	+	Silent	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:155507651A>G	uc003iod.1	-	4	988	c.930T>C	c.(928-930)ccT>ccC	p.P310P	FGA_uc003ioe.1_Silent_p.P310P|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	310					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)	CAGAGCTCCCAGGGTTTCGGT	0.572000														56			51		0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33670592	33670592	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:33670592G>A	uc003and.4	-	15	2671	c.2092C>T	c.(2092-2094)Ctg>Ttg	p.L698L	LARGE_uc011amd.2_Silent_p.L497L|LARGE_uc003ane.4_Silent_p.L698L|LARGE_uc010gwp.3_Silent_p.L646L|LARGE_uc011ame.2_Silent_p.L630L|LARGE_uc011amf.2_Silent_p.L649L	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	698					N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GCGTTGGGCAGCACAATGAAC	0.512000											OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			25		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169172115	169172115	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:169172115C>T	uc003irp.3	-	27	4140	c.3848G>A	c.(3847-3849)gGa>gAa	p.G1283E		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1283	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CCTAAGATATCCTTTTCTAAA	0.333000														15			16		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76886426	76886426	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:76886426C>T	uc001oyb.2	+	17	2375	c.2103C>T	c.(2101-2103)ctC>ctT	p.L701L	MYO7A_uc010rsl.2_Silent_p.L701L|MYO7A_uc010rsm.1_Silent_p.L690L|MYO7A_uc001oyc.2_Silent_p.L701L|MYO7A_uc001oyd.3_Silent_p.L41L	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	701	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGGGCGACCTCCGCGGGACTT	0.612000														58			30		0	0	1	0	0
TCF7L1	83439	broad.mit.edu	37	2	85531398	85531398	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:85531398C>T	uc002soy.3	+	6	1007	c.782C>T	c.(781-783)tCc>tTc	p.S261F		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA.	261	Pro-rich.				Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CCCATGTACTCCCTTCCTCCC	0.612000														31			20		0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159376	118159376	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:118159376G>A	uc003yoh.3	+	1	485	c.255G>A	c.(253-255)atG>atA	p.M85I	SLC30A8_uc010mcz.3_Missense_Mutation_p.M36I|SLC30A8_uc003yog.3_Missense_Mutation_p.M36I|SLC30A8_uc011lia.2_Missense_Mutation_p.M36I|SLC30A8_uc022bab.1_Missense_Mutation_p.M36I	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	85					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCATTTTCATGATTGCAGAGG	0.438000														107			70		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55349152	55349152	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:55349152G>A	uc002qhm.1	+	2	238	c.192G>A	c.(190-192)ggG>ggA	p.G64G	KIR3DL2_uc010yfj.2_Silent_p.G57G|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Silent_p.G64G|KIR3DL2_uc002qhn.1_Silent_p.G11G	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	159	Ig-like C2-type 1.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	p.G64G(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		ACAGAGAGGGGAAGTTTAACA	0.512000														23			224		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66102286	66102286	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:66102286G>A	uc001dci.3	+	19	3475	c.3086G>A	c.(3085-3087)tGg>tAg	p.W1029*	LEPR_uc009waq.3_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	1029					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AATAGCTCATGGGAGATAGAG	0.388000														61			51		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119188178	119188178	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:119188178C>T	uc004bjt.2	-	21	3920	c.3819G>A	c.(3817-3819)aaG>aaA	p.K1273K	ASTN2_uc022bml.1_Silent_p.K969K|ASTN2_uc022bmm.1_Silent_p.K973K|ASTN2_uc004bjp.2_Silent_p.K425K|ASTN2_uc011lxr.2_Silent_p.K376K|ASTN2_uc011lxs.2_Intron|ASTN2_uc011lxt.2_Silent_p.K376K|ASTN2_uc004bjq.2_Silent_p.K376K	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	1324						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						TTGACACCATCTTCTCCTCAC	0.582000														3			17		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49212700	49212700	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:49212700G>A	uc010zyt.2	-	14	2142	c.1891C>T	c.(1891-1893)Caa>Taa	p.Q631*	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Nonsense_Mutation_p.Q627*	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	627										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						TTGCAGACTTGGAGGTGTACC	0.602000														32			27		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13776797	13776797	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:13776797G>A	uc003jfd.2	-	54	9166	c.9124C>T	c.(9124-9126)Cga>Tga	p.R3042*		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3042	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3042R(2)|p.R3042Q(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)					ATTTCATCTCGAGCAAATAGG	0.383000									Kartagener syndrome					35			29		0	0	1	0	0
SOCS7	30837	broad.mit.edu	37	17	36521280	36521280	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:36521280C>T	uc002hqa.3	+	3	1169	c.1048C>T	c.(1048-1050)Ccc>Tcc	p.P350S	SOCS7_uc010cvl.3_Intron|SOCS7_uc002hqb.3_Non-coding_Transcript	NM_014598	NP_055413	O14512	SOCS7_HUMAN	Homo sapiens suppressor of cytokine signaling 7 (SOCS7), mRNA.	350	Mediates interaction with SORBS3.|Poly-Pro.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	SH3 domain binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					GCCTCCTCCACCCCATGCCCC	0.488000														31			18		0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52921820	52921820	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:52921820C>T	uc002lga.3	-	15	1624	c.1564G>A	c.(1564-1566)Gga>Aga	p.G522R	TCF4_uc021ukg.1_Missense_Mutation_p.G260R|TCF4_uc021ukh.1_Missense_Mutation_p.G260R|TCF4_uc002lfw.4_Missense_Mutation_p.G260R|TCF4_uc010xdu.1_Missense_Mutation_p.G290R|TCF4_uc010xdv.1_Missense_Mutation_p.G290R|TCF4_uc021uki.1_Missense_Mutation_p.G349R|TCF4_uc002lfx.2_Missense_Mutation_p.G349R|TCF4_uc010xdw.1_Missense_Mutation_p.G290R|TCF4_uc002lfy.2_Missense_Mutation_p.G378R|TCF4_uc010xdx.1_Missense_Mutation_p.G396R|TCF4_uc021ukj.1_Missense_Mutation_p.G360R|TCF4_uc021ukk.1_Missense_Mutation_p.G360R|TCF4_uc021ukl.1_Missense_Mutation_p.G417R|TCF4_uc002lfz.2_Missense_Mutation_p.G420R|TCF4_uc010dph.1_Missense_Mutation_p.G420R|TCF4_uc010dpi.3_Missense_Mutation_p.G426R|TCF4_uc010xdy.1_Missense_Mutation_p.G396R	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	420					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CCAATGATTCCATGCATGTCC	0.502000														19			13		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151970799	151970799	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:151970799G>A	uc003wla.3	-	6	1222	c.1003C>T	c.(1003-1005)Cct>Tct	p.P335S		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	335					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CATCTTTCAGGAGCTTGGTCA	0.383000			N		medulloblastoma									191			6		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231106164	231106164	+	Nonsense_Mutation	SNP	T	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:231106164T>G	uc002vql.3	+	3	567	c.452T>G	c.(451-453)tTa>tGa	p.L151*	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Nonsense_Mutation_p.L151*|SP140_uc002vqn.3_Nonsense_Mutation_p.L151*|SP140_uc002vqm.3_Nonsense_Mutation_p.L151*|SP140_uc010fxl.3_Nonsense_Mutation_p.L151*	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	151					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)		GTAAACGATTTAGAAGATAGA	0.383000														15			9		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74988710	74988710	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:74988710C>T	uc001xqa.3	-	16	3079	c.2692G>A	c.(2692-2694)Gga>Aga	p.G898R		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	898	Cys-rich.|EGF-like 5; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CGCCCTTTTCCCTTGCAGGGG	0.617000														16			8		0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155014062	155014062	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:155014062G>A	uc001fgn.2	+	6	835	c.721G>A	c.(721-723)Gag>Aag	p.E241K	DCST1_uc010per.2_Missense_Mutation_p.E266K|DCST1_uc010pes.2_Missense_Mutation_p.E216K	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	Homo sapiens DC-STAMP domain containing 1 (DCST1), transcript variant 1, mRNA.	241						integral to membrane	zinc ion binding	p.E241Q(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAAGATGTATGAGCTGAAGAC	0.617000														42			55		0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62604664	62604664	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:62604664G>A	uc003peg.2	-	5	933	c.686C>T	c.(685-687)aCc>aTc	p.T229I		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	229	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.T229T(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CGCTCCACGGGTTACAGTGCT	0.617000														25			19		0	0	1	0	0
SLC16A8	23539	broad.mit.edu	37	22	38478710	38478710	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:38478710C>T	uc003auu.3	-	1	301	c.171G>A	c.(169-171)acG>acA	p.T57T		NM_013356	NP_037488	O95907	MOT3_HUMAN	Homo sapiens solute carrier family 16, member 8 (monocarboxylic acid transporter 3) (SLC16A8), mRNA.	57					blood coagulation|leukocyte migration|pyruvate metabolic process	integral to plasma membrane|membrane fraction	lactate transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			kidney(1)|large_intestine(1)|prostate(1)	3	Melanoma(58;0.045)				Pyruvic acid(DB00119)	ACACCCAGGCCGTGTCGCTGT	0.682000														4			5		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50552966	50552966	+	Silent	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:50552966T>C	uc003bjj.3	+	6	1124	c.1041T>C	c.(1039-1041)aaT>aaC	p.N347N	MOV10L1_uc003bjk.4_Silent_p.N347N|MOV10L1_uc011arp.2_Silent_p.N327N|MOV10L1_uc011arq.1_Silent_p.N108N|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	347					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CAGATGAAAATATTAATTCAT	0.393000														27			10		0	0	1	0	0
LACC1	144811	broad.mit.edu	37	13	44455654	44455654	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:44455654T>C	uc010acg.3	+	1	1018	c.533T>C	c.(532-534)tTa>tCa	p.L178S	CCDC122_uc010acf.3_5'Flank|LACC1_uc001uzf.4_Missense_Mutation_p.L178S	NM_001128303	NP_694950	Q8IV20	CM031_HUMAN	Homo sapiens laccase (multicopper oxidoreductase) domain containing 1 (LACC1), transcript variant 1, mRNA.	178																	AGAGGAAAATTAACTATTATC	0.348000														22			32		0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95277286	95277286	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:95277286C>T	uc011lty.2	-	3	868	c.681G>A	c.(679-681)aaG>aaA	p.K227K	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Silent_p.K205K|ECM2_uc004asg.3_Silent_p.K205K	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	227					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GGGTCTCTCTCTTTTGCTCTG	0.498000														26			84		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160030988	160030988	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:160030988C>T	uc003lym.1	-	19	4068	c.3221G>A	c.(3220-3222)gGa>gAa	p.G1074E	ATP10B_uc010jit.1_Missense_Mutation_p.G391E	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	1074					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S1073C(1)		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)			GCCTTCCTGTCCAGATATTCC	0.398000														39			12		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123160823	123160823	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:123160823A>T	uc003ieh.3	+	26	4031	c.3986A>T	c.(3985-3987)tAt>tTt	p.Y1329F	KIAA1109_uc003iei.1_Missense_Mutation_p.Y1082F|KIAA1109_uc010ins.1_Missense_Mutation_p.Y672F|KIAA1109_uc003iek.2_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	1329					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						GCTGCTTTCTATGGGGACAAG	0.453000														34			23		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066554	9066554	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:9066554A>T	uc002mkp.3	-	2	21096	c.20892T>A	c.(20890-20892)ttT>ttA	p.F6964L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6966	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						TGTCAGTGGAAAAGCTGGCAT	0.458000														11			160		0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42178130	42178130	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:42178130G>A	uc001zos.3	-	6	1551	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	441					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CATCCTTAAGGAAACTCTCCC	0.667000														10			4		0	0	1	0	0
DNTT	1791	broad.mit.edu	37	10	98092189	98092189	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:98092189C>T	uc001kmf.3	+	8	1365	c.1195C>T	c.(1195-1197)Cat>Tat	p.H399Y	DNTT_uc001kmg.3_Missense_Mutation_p.H399Y	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	399	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TGCTTTGGATCATTTTCAAAA	0.433000														6			26		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57528441	57528441	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:57528441C>T	uc011kdi.1	+	3	386	c.274C>T	c.(274-276)Cat>Tat	p.H92Y		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TACATGTTCTCATTTCACCCA	0.323000														25			16		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91744483	91744483	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:91744483G>A	uc010aty.3	-	28	4995	c.4841C>T	c.(4840-4842)gCc>gTc	p.A1614V	CCDC88C_uc001xzj.3_Missense_Mutation_p.A138V|CCDC88C_uc001xzi.3_Missense_Mutation_p.A64V	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1614					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GGGCAAAGTGGCCAGGTCCCT	0.682000														12			10		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981529	7981529	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:7981529C>T	uc001mfv.1	-	1	1647	c.1630G>A	c.(1630-1632)Gat>Aat	p.D544N		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	544							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGCTTCAGATCCTGCGCTAAA	0.408000														29			19		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	333188	333189	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:333188_333189GG>AC	uc001qic.2	-	10	1370_1371	c.1280_1281CC>GT	c.(1279-1281)tcc>tGT	p.S427C	SLC6A13_uc009zdj.2_Missense_Mutation_p.S417C|SLC6A13_uc010sdl.2_Missense_Mutation_p.S335C	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	427					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)			CCACAAGGAAGGAGACGACAGA	0.584000														24			10		0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171455441	171455441	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:171455441G>A	uc003fhs.3	-	2	516	c.169C>T	c.(169-171)Cct>Tct	p.P57S	PLD1_uc003fht.3_Missense_Mutation_p.P57S	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	57					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			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)	GCAGAGAAAGGGATATACACT	0.328000														17			14		0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3905638	3905638	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:3905638G>A	uc010xhz.2	+	4	844	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	ATCAY_uc002lyy.4_Missense_Mutation_p.E115K			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	115					transport		protein binding	p.D120D(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GAATGGCAACGAACTGGAGTG	0.577000														83			34		0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69343096	69343096	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:69343096C>T	uc003hdz.4	+	7	781	c.717C>T	c.(715-717)aaC>aaT	p.N239N		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	239	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						GATATAAGAACCCTGCCAGAT	0.343000														86			39		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53669202	53669202	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:53669202C>T	uc010eqm.1	-	3	641	c.541G>A	c.(541-543)Gat>Aat	p.D181N		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CCACATTCATCACATTTATAA	0.378000														117			46		0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135890479	135890479	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:135890479T>A	uc010fnf.3	+	13	1294	c.1251T>A	c.(1249-1251)gaT>gaA	p.D417E	RAB3GAP1_uc002tuj.3_Missense_Mutation_p.D417E|RAB3GAP1_uc010fng.3_Missense_Mutation_p.D242E|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	417						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TATTCCCTGATGCTGTTTCTG	0.308000														32			17		0	0	1	0	0
ALYREF	10189	broad.mit.edu	37	17	79847154	79847154	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:79847154G>A	uc002kbu.2	-	2	448	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	ANAPC11_uc002kbv.1_5'Flank|ANAPC11_uc002kbw.1_5'Flank|ANAPC11_uc002kbx.1_5'Flank|ANAPC11_uc002kby.1_5'Flank|ANAPC11_uc002kbz.1_5'Flank|ANAPC11_uc002kca.1_5'Flank|ANAPC11_uc002kcb.1_5'Flank|ANAPC11_uc002kcc.1_5'Flank	NM_005782	NP_005773	Q86V81	THOC4_HUMAN	Homo sapiens Aly/REF export factor (ALYREF), mRNA.	141	Ala/Arg/Gly-rich.|RRM.				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	RNA binding|nucleotide binding|protein binding										CGACCAGAGCGATCATAGTGC	0.532000														54			37		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729357	196729357	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:196729357C>T	uc002utj.4	-	40	7123	c.7022G>A	c.(7021-7023)gGg>gAg	p.G2341E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2341	AAA 4 (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						CCCTCCAACCCCTACTAGGAG	0.468000														33			20		0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929031	4929031	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:4929031G>A	uc010qyq.2	+	0	432	c.432G>A	c.(430-432)atG>atA	p.M144I		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGCTAAAATGGGACTTATTT	0.368000														46			28		0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97096931	97096931	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:97096931G>A	uc001kkp.3	-	27	3031	c.2986C>T	c.(2986-2988)Cca>Tca	p.P996S	SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Intron|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.P950S|SORBS1_uc010qoe.2_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	996					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CGCCTGCCTGGGACCCCCACA	0.637000														7			16		0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4471283	4471283	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:4471283G>T	uc001lyz.2	+	0	759	c.714G>T	c.(712-714)aaG>aaT	p.K238N		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA.	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCGCTACAAGGCATTTGGGA	0.493000														87			66		4.45325e-31	4.53216e-31	1	1	0
SPANXN2	494119	broad.mit.edu	37	X	142795383	142795383	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:142795383C>T	uc004fbz.3	-	1	1049	c.295G>A	c.(295-297)Gac>Aac	p.D99N		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	99										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTCTTCGTCCTCCTGTGAA	0.522000														67			158		0	0	1	0	0
KTN1	3895	broad.mit.edu	37	14	56119569	56119570	+	Missense_Mutation	DNP	TT	AA	AA			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:56119569_56119570TT>AA	uc001xcb.3	+	26	2907_2908	c.2605_2606TT>AA	c.(2605-2607)tta>AAa	p.L869K	KTN1_uc001xcc.3_Missense_Mutation_p.L869K|KTN1_uc001xcd.3_Missense_Mutation_p.L846K|KTN1_uc001xce.3_Missense_Mutation_p.L869K|KTN1_uc010trb.2_Missense_Mutation_p.L869K|KTN1_uc001xcf.1_Missense_Mutation_p.L846K|KTN1_uc010aoq.3_Missense_Mutation_p.L164K	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.	869					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TATTATCAGATTAAAAGGAAAA	0.322000			T	RET	papillary thryoid									14			8		0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156927605	156927605	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:156927605G>A	uc001fqo.3	-	16	2425	c.1385C>T	c.(1384-1386)tCc>tTc	p.S462F	ARHGEF11_uc001fqn.3_Missense_Mutation_p.S502F|ARHGEF11_uc001fqp.1_5'Flank	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	462	RGSL.				G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTCATACTTGGACCTGGAATG	0.463000														43			71		0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38283093	38283093	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:38283093G>A	uc001cce.1	-	9	1970	c.1829C>T	c.(1828-1830)cCa>cTa	p.P610L		NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	610						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTACATACCTGGGCTACTGGC	0.393000														29			149		0	0	1	0	0
COPS2	9318	broad.mit.edu	37	15	49436468	49436468	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:49436468C>T	uc001zxh.3	-	2	281	c.202G>A	c.(202-204)Gga>Aga	p.G68R	COPS2_uc001zxf.3_Missense_Mutation_p.G68R|COPS2_uc010ufa.2_Intron	NM_001143887	NP_001137359	P61201	CSN2_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis) (COPS2), transcript variant 2, mRNA.	68					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		GCTTTAAATCCCCATTCTCCT	0.284000														30			13		0	0	1	0	0
AACSP1	729522	broad.mit.edu	37	5	178199539	178199539	+	RNA	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:178199539G>A	uc011dgk.2	-	3		c.350C>T			AACSP1_uc011dgl.2_Non-coding_Transcript|AACSP1_uc003mjk.3_Non-coding_Transcript					Homo sapiens acetoacetyl-CoA synthetase pseudogene 1 (AACSP1), non-coding RNA.																		GGCGTGCCCAGAGGCTGTCTT	0.577000														14			13		0	0	1	0	0
NFX1	4799	broad.mit.edu	37	9	33364754	33364754	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:33364754C>T	uc003zsr.3	+	20	3177	c.3024C>T	c.(3022-3024)ctC>ctT	p.L1008L	NFX1_uc003zsp.2_Silent_p.L1007L|NFX1_uc010mjr.2_Silent_p.L1008L|NFX1_uc003zsq.3_Silent_p.L1007L	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	1007	R3H.				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)		TGGAAACCCTCGTGGAGGCCG	0.428000														2			18		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26399266	26399266	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:26399266G>A	uc003abz.1	+	40	6573	c.6323G>A	c.(6322-6324)cGa>cAa	p.R2108Q	MYO18B_uc003aca.1_Missense_Mutation_p.R1989Q|MYO18B_uc010guy.1_Missense_Mutation_p.R1990Q|MYO18B_uc010guz.1_Missense_Mutation_p.R1988Q|MYO18B_uc011aka.1_Missense_Mutation_p.R1262Q|MYO18B_uc011akb.1_Missense_Mutation_p.R1621Q|MYO18B_uc010gva.1_Intron	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2108						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						AGCAGCGGCCGAAAAGAGATG	0.532000														9			7		0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74640303	74640303	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:74640303G>A	uc002axt.2	-	1	518	c.363C>T	c.(361-363)ttC>ttT	p.F121F	CYP11A1_uc002axs.2_5'UTR|CYP11A1_uc010bjm.1_Intron|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.3_Silent_p.F121F	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	121					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GCGGGATGAGGAATCGTTCTG	0.577000														58			19		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937321	21937321	+	RNA	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:21937321C>T	uc010tzj.1	-	0		c.3419G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		ACCTTCTGTCCCAGTGCAACG	0.348000														69			13		0	0	1	0	0
PRMT2	3275	broad.mit.edu	37	21	48068504	48068504	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:48068504C>T	uc002zjx.3	+	5	796	c.462C>T	c.(460-462)ttC>ttT	p.F154F	PRMT2_uc021wkc.1_Silent_p.F154F|PRMT2_uc002zjw.3_Silent_p.F154F|PRMT2_uc002zjy.3_Silent_p.F154F|PRMT2_uc010gqm.3_Silent_p.F154F|PRMT2_uc011aga.2_Silent_p.F154F|PRMT2_uc011agb.2_Silent_p.F154F|PRMT2_uc011agc.2_Silent_p.F154F|PRMT2_uc002zjz.1_Silent_p.F40F	NM_206962	NP_996845	P55345	ANM2_HUMAN	Homo sapiens protein arginine methyltransferase 2 (PRMT2), transcript variant 1, mRNA.	154	Interaction with ESR1.|Interaction with RB1 (By similarity).				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		TCAGTCTCTTCTGTGCACACT	0.562000														51			37		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325730	31325730	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:31325730G>A	uc010dmg.1	+	11	5973	c.5918G>A	c.(5917-5919)gGa>gAa	p.G1973E	ASXL3_uc002kxq.2_Missense_Mutation_p.G1680E	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1973					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						AAGGGATTGGGAGAGGTTAGT	0.517000														62			43		0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119345394	119345394	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:119345394A>T	uc003pyj.3	-	1	1092	c.744T>A	c.(742-744)taT>taA	p.Y248*	FAM184A_uc003pyk.4_Nonsense_Mutation_p.Y128*|FAM184A_uc003pyl.4_Nonsense_Mutation_p.Y128*	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	248										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ACTTGCCTTCATAATCCTCAA	0.428000														21			13		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25806357	25806357	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:25806357C>T	uc003gru.4	-	9	1734	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	SEL1L3_uc003grv.3_5'UTR	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	528						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GATACAGATTCATTTTGGTTC	0.388000														18			9		0	0	1	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795344	142795344	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:142795344C>T	uc004fbz.3	-	1	1088	c.334G>A	c.(334-336)Gac>Aac	p.D112N		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	112								p.D112G(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTCTTCGTCCTCCTGTGAA	0.527000														205			14		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10916446	10916446	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:10916446C>T	uc002yip.1	-	19	1568	c.1200G>A	c.(1198-1200)gtG>gtA	p.V400V	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Silent_p.V382V|TPTE_uc002yir.1_Silent_p.V362V|TPTE_uc010gkv.1_Silent_p.V262V	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	400	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGAGATGTTTCACTTGTGCAA	0.328000														57			13		0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139724587	139724587	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:139724587A>G	uc003vvl.1	-	11	2753	c.1879T>C	c.(1879-1881)Ttc>Ctc	p.F627L	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	627	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CCCCTGACGAACTCGCCCACC	0.602000														39			16		0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834435	61834435	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:61834435G>A	uc002yeh.3	-	3	1151	c.857C>T	c.(856-858)cCc>cTc	p.P286L	YTHDF1_uc011aaq.2_Missense_Mutation_p.P236L	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	286	Gln/Pro-rich.									NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TGCCTGCTGGGGGACTGGGGC	0.652000														48			44		0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6709724	6709724	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:6709724G>A	uc001qpo.3	-	7	1203	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*	CHD4_uc001qpn.3_Nonsense_Mutation_p.R340*|CHD4_uc001qpp.3_Nonsense_Mutation_p.R344*	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	347					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.R347*(2)		central_nervous_system(2)	2						TTAGTGGTTCGGAGTTTCTTG	0.448000														41			36		0	0	1	0	0
DMPK	1760	broad.mit.edu	37	19	46280657	46280657	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:46280657G>A	uc002pdi.1	-	8	1338	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	DMPK_uc010xxs.1_Silent_p.F269F|DMPK_uc002pdd.1_Silent_p.F368F|DMPK_uc002pde.1_Silent_p.F368F|DMPK_uc002pdg.1_Silent_p.F358F|DMPK_uc002pdf.1_Silent_p.F358F|DMPK_uc002pdh.1_Silent_p.F358F|DMPK_uc010xxt.1_Silent_p.F358F	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	368	AGC-kinase C-terminal.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.F358F(1)|p.F368F(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TGGCACCTTCGAAATCCGGTG	0.647000														7			63		0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141418	29141418	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:29141418G>A	uc011dlm.2	+	0	108	c.6G>A	c.(4-6)atG>atA	p.M2I		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GATGAATGATGATTAAAAAAA	0.348000														87			22		0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184573563	184573563	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:184573563C>T	uc021xik.1	+	12	1188	c.1100C>T	c.(1099-1101)cCc>cTc	p.P367L	VPS8_uc003fpb.1_Missense_Mutation_p.P365L|VPS8_uc010hyd.1_Missense_Mutation_p.P365L	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	367							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TACGTGAATCCCATGCTTGCC	0.393000														107			59		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100678637	100678637	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:100678637G>A	uc003uxp.1	+	2	3993	c.3940G>A	c.(3940-3942)Gaa>Aaa	p.E1314K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1314	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)					CACTTCTAATGAAGTCAGTTC	0.463000														119			69		0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73089822	73089822	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:73089822C>T	uc002jmr.3	+	2	463	c.91C>T	c.(91-93)Ccc>Tcc	p.P31S	SLC16A5_uc002jmt.3_Missense_Mutation_p.P31S|SLC16A5_uc002jmu.3_Missense_Mutation_p.P31S|SLC16A5_uc010wrt.2_Missense_Mutation_p.P71S	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	31					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.F30F(1)		central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CCTGGGCTTCCCCACGTGTAT	0.632000														39			41		0	0	1	0	0
CALR3	125972	broad.mit.edu	37	19	16590074	16590074	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:16590074C>T	uc002ned.2	-	8	1086	c.1023G>A	c.(1021-1023)agG>agA	p.R341R	MED26_uc002nee.2_Non-coding_Transcript	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	Homo sapiens calreticulin 3 (CALR3), mRNA.	341	C-domain.|Glu/Lys-rich.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						CATCCATCTCCCTTTCTGGAC	0.532000														83			30		0	0	1	0	0
RBBP5	5929	broad.mit.edu	37	1	205065991	205065991	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:205065991G>A	uc010prd.2	-	10	1601	c.1320C>T	c.(1318-1320)gcC>gcT	p.A440A	RBBP5_uc010pre.2_Silent_p.A278A|RBBP5_uc001hbu.2_Silent_p.A405A|RBBP5_uc001hbv.2_Silent_p.A405A	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	Homo sapiens retinoblastoma binding protein 5 (RBBP5), transcript variant 1, mRNA.	405					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)			CTACCTCAGGGGCAATGGGTA	0.478000														118			35		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107183621	107183621	+	RNA	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:107183621C>T	uc021ser.1	-	29		c.1957G>A								Parts of antibodies, mostly variable regions.																		GAAGGTGAATCCAGAGGCTGC	0.577000														76			6		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157514230	157514230	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:157514230G>A	uc009wsm.3	-	4	824	c.666C>T	c.(664-666)gtC>gtT	p.V222V	FCRL5_uc001fqu.3_Silent_p.V222V|FCRL5_uc010phv.1_Silent_p.V222V|FCRL5_uc010phw.1_Silent_p.V137V|FCRL5_uc001fqv.1_Silent_p.V222V|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	222	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACCGGAGCGGGACATCTGACC	0.557000														123			66		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994128	140994128	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:140994128C>T	uc004fbt.3	+	3	1262	c.938C>T	c.(937-939)tCc>tTc	p.S313F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	313							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)					TCCTCCTCCTCCACTTTATTG	0.483000										HNSCC(15;0.026)				39			96		0	0	1	0	0
ANKRD7	56311	broad.mit.edu	37	7	117864914	117864914	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:117864914G>A	uc003vji.3	+	0	203	c.30G>A	c.(28-30)agG>agA	p.R10R		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	Homo sapiens ankyrin repeat domain 7 (ANKRD7), mRNA.	10					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TCTGGAAGAGGAAGAATGAGA	0.512000														35			19		0	0	1	0	0
GFPT1	2673	broad.mit.edu	37	2	69555565	69555565	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:69555565G>A	uc002sfi.2	-	17	1914	c.1731C>T	c.(1729-1731)atC>atT	p.I577I	GFPT1_uc002sfh.3_Silent_p.I559I	NM_001244710	NP_001231639	Q06210	GFPT1_HUMAN	Homo sapiens glutamine--fructose-6-phosphate transaminase 1 (GFPT1), transcript variant 1, mRNA.	577	SIS 2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TAATTTCTTTGATTTTCTAAT	0.353000														19			13		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103142761	103142761	+	Missense_Mutation	SNP	A	C	C	rs115217520	byFrequency	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:103142761A>C	uc002tbz.4	+	10	2451	c.1994A>C	c.(1993-1995)aAt>aCt	p.N665T		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	665					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.G664W(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCCTACGGGAATCCTCAGTCT	0.498000														41			39		0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21136463	21136463	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:21136463G>A	uc002kum.4	-	7	1344	c.1070C>T	c.(1069-1071)tCg>tTg	p.S357L	NPC1_uc010xaz.2_Missense_Mutation_p.S158L|NPC1_uc010xba.1_Missense_Mutation_p.S202L	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	357					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAAGACCAGCGAGAAGAAAAT	0.587000														16			14		0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29891326	29891326	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:29891326C>A	uc010vec.2	-	8	1677	c.1432G>T	c.(1432-1434)Gac>Tac	p.D478Y	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.D408Y|SEZ6L2_uc002dur.4_Missense_Mutation_p.D408Y|SEZ6L2_uc002duq.4_Missense_Mutation_p.D478Y|SEZ6L2_uc010ved.2_Missense_Mutation_p.D434Y|SEZ6L2_uc002dus.4_Missense_Mutation_p.D364Y	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	478	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TACTCAGGGTCCGTGGTAGTG	0.582000														62			11		4.68919e-08	4.71876e-08	1	1	0
PGLYRP3	114771	broad.mit.edu	37	1	153276351	153276351	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:153276351G>A	uc001fbn.1	-	3	564	c.511C>T	c.(511-513)Cca>Tca	p.P171S		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	171					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)			GGCATCACTGGATGTTGAGGG	0.532000														59			82		0	0	1	0	0
KCTD11	147040	broad.mit.edu	37	17	7256761	7256761	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:7256761C>T	uc002gge.4	+	0	1554	c.500C>T	c.(499-501)cCc>cTc	p.P167L	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 11 (KCTD11), mRNA.	167					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.L166L(1)		kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				GTGGAACTCCCCGAGGTGGAG	0.677000														21			16		0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686156	125686156	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:125686156C>T	uc022cds.1	-	0	436	c.436G>A	c.(436-438)Gac>Aac	p.D146N	DCAF12L1_uc004eul.3_Missense_Mutation_p.D146N	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	146										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCCTGTTGGTCCTGGGCCAGC	0.632000														6			16		0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220375673	220375673	+	Silent	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:220375673A>G	uc010puk.1	-	8	920	c.756T>C	c.(754-756)gcT>gcC	p.A252A	RAB3GAP2_uc021pjf.1_Silent_p.A252A|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_5'UTR|SNORA36B_uc010pul.2_5'Flank	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	252					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		ATTTCTTATAAGCTAATGGTG	0.323000														42			39		0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96530022	96530022	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:96530022C>A	uc001vmt.3	-	27	3487	c.3317G>T	c.(3316-3318)cGg>cTg	p.R1106L	UGGT2_uc001vmu.1_Missense_Mutation_p.R193L	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	1106					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CTGCAGACCCCGAGGAGGCTG	0.388000														61			26		1.17739e-12	1.18732e-12	1	1	0
LPA	4018	broad.mit.edu	37	6	161027681	161027681	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:161027681G>A	uc003qtl.3	-	17	2733	c.2613C>T	c.(2611-2613)atC>atT	p.I871I		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3379	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGTAGTTCATGATCAAGCCAC	0.507000														90			54		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41539173	41539173	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:41539173G>A	uc002yyq.1	-	15	3442	c.2990C>T	c.(2989-2991)tCa>tTa	p.S997L	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.	997	Fibronectin type-III 2.				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.I996I(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)				GCTCTGAGATGATATAGGCTC	0.517000														30			27		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10312759	10312759	+	Silent	SNP	G	A	A	rs144464113		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:10312759G>A	uc002gmm.2	-	15	1829	c.1734C>T	c.(1732-1734)gcC>gcT	p.A578A	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	578	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GAGAGAAGTGGGCCTCAGCCT	0.522000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					48			37		0	0	1	0	0
FARS2	10667	broad.mit.edu	37	6	5545488	5545488	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:5545488C>T	uc010jnv.1	+	4	1316	c.980C>T	c.(979-981)cCt>cTt	p.P327L	FARS2_uc003mwr.2_Missense_Mutation_p.P327L	NM_006567	NP_006558	O95363	SYFM_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	327					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	TACGACATCCCTGATATCCGT	0.468000														126			48		0	0	1	0	0
CCL27	10850	broad.mit.edu	37	9	34662354	34662354	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:34662354C>A	uc003zvm.1	-	1	189	c.130G>T	c.(130-132)Gac>Tac	p.D44Y		NM_006664	NP_006655	Q9Y4X3	CCL27_HUMAN	Homo sapiens chemokine (C-C motif) ligand 27 (CCL27), mRNA.	44					cell-cell signaling|chemotaxis|immune response	extracellular space	chemokine activity			kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		AGTAGCTTGTCTGAGAGTGGC	0.582000														2			21		6.21321e-17	6.29208e-17	1	1	0
GPR116	221395	broad.mit.edu	37	6	46826469	46826469	+	Silent	SNP	G	A	A	rs151037028		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:46826469G>A	uc003oyo.3	-	16	3460	c.3171C>T	c.(3169-3171)atC>atT	p.I1057I	GPR116_uc011dwj.1_Silent_p.I612I|GPR116_uc011dwk.1_Silent_p.I486I|GPR116_uc003oyp.3_Silent_p.I915I|GPR116_uc003oyq.3_Silent_p.I1057I|GPR116_uc010jzi.1_Silent_p.I729I	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1057					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I1057I(4)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGGAGGCAGCGATATTCACTA	0.537000														35			18		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108487700	108487700	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:108487700G>A	uc010ywk.2	+	19	3322	c.3240G>A	c.(3238-3240)agG>agA	p.R1080R	RGPD4_uc002tdu.3_Silent_p.R267R|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1080	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGAAAGAAAGGGGCTTGGGGA	0.388000														190			125		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137107	40137107	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:40137107G>A	uc021qgf.1	-	0	736	c.736C>T	c.(736-738)Caa>Taa	p.Q246*	LRRC4C_uc001mxc.1_Nonsense_Mutation_p.Q242*|LRRC4C_uc001mxd.1_Nonsense_Mutation_p.Q242*|LRRC4C_uc001mxa.1_Nonsense_Mutation_p.Q246*|LRRC4C_uc001mxb.1_Nonsense_Mutation_p.Q242*	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	246					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)				CACAGTTTTTGAAGGTGCATC	0.453000														25			21		0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39086559	39086559	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:39086559C>T	uc011aej.1	-	2	954	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	KCNJ6_uc002ywo.2_Missense_Mutation_p.E301K	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	301					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ATTTCCAGTTCCTCTTTGGGC	0.478000														57			40		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189849651	189849651	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:189849651G>A	uc002uqj.1	+	1	362	c.245G>A	c.(244-246)gGa>gAa	p.G82E		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	82	VWFC.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ATTCCATTTGGAGAATGTTGT	0.408000														25			22		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13715852	13715852	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:13715852G>A	uc001rbt.2	-	12	4499	c.4320C>T	c.(4318-4320)gcC>gcT	p.A1440A		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1440					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCTGGAAACGGGCTGGCACGG	0.612000														32			36		0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49935521	49935521	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:49935521G>A	uc003cxy.4	-	4	2107	c.1843C>T	c.(1843-1845)Ccc>Tcc	p.P615S	MST1R_uc011bdc.2_Missense_Mutation_p.P615S|MST1R_uc011bdd.2_Missense_Mutation_p.P615S|MST1R_uc011bde.1_Missense_Mutation_p.P615S|MST1R_uc011bdf.1_Missense_Mutation_p.P509S	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	615	IPT/TIG 1.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GGCCGGCAGGGACTTTGGCCC	0.592000														35			27		0	0	1	0	0
C14orf43	91748	broad.mit.edu	37	14	74186144	74186144	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:74186144G>T	uc010tud.1	-	10	3245	c.2998C>A	c.(2998-3000)Cag>Aag	p.Q1000K	C14orf43_uc001xos.3_Missense_Mutation_p.Q265K|C14orf43_uc001xot.3_Missense_Mutation_p.Q1000K|C14orf43_uc001xou.3_Missense_Mutation_p.Q1000K|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	1000					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		TCCGAGGCCTGGCCACCGGCA	0.527000														18			12		9.31168e-06	9.33769e-06	1	1	0
NOBOX	135935	broad.mit.edu	37	7	144097322	144097322	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:144097322C>A	uc022aoj.1	-	4	928	c.928G>T	c.(928-930)Ggg>Tgg	p.G310W		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	310					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GGGGTCACCCCCACCGTCTGG	0.552000														38			27		9.80776e-20	9.93927e-20	1	1	0
FAM75E1	286234	broad.mit.edu	37	9	90501213	90501213	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:90501213C>T	uc004app.4	+	3	1846	c.1811C>T	c.(1810-1812)cCg>cTg	p.P604L	FAM75E1_uc004apo.1_Missense_Mutation_p.P416L	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	604						integral to membrane											CAAGAGAGGCCGGCCTCCTGG	0.602000														12			31		0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53155763	53155763	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:53155763G>A	uc003dgj.3	-	4	564	c.510C>T	c.(508-510)ctC>ctT	p.L170L		NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	Homo sapiens RFT1 homolog (S. cerevisiae) (RFT1), mRNA.	170					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)		ACCACAGCACGAGAAAAGCTG	0.413000														10			9		0	0	1	0	0
C16orf70	80262	broad.mit.edu	37	16	67165208	67165208	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:67165208T>C	uc002erd.3	+	3	415	c.251T>C	c.(250-252)tTg>tCg	p.L84S	C16orf70_uc002erc.3_Missense_Mutation_p.L84S|C16orf70_uc002ere.1_Missense_Mutation_p.L62S	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	Homo sapiens chromosome 16 open reading frame 70 (C16orf70), mRNA.	84										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		GTATGTGATTTGACTAAAGTA	0.299000														31			14		0	0	1	0	0
LOC643802	643802	broad.mit.edu	37	16	53404718	53404718	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:53404718C>T	uc021tik.1	-	0	324	c.184G>A	c.(184-186)Gag>Aag	p.E62K		NM_001207030	NP_001193959			Homo sapiens u3 small nucleolar ribonucleoprotein protein MPP10-like (LOC643802), mRNA.																		AAGAATTTCTCGTCTATTATG	0.383000														7			8		0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614213	36614213	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:36614213C>T	uc021qge.1	-	0	1506	c.1506G>A	c.(1504-1506)atG>atA	p.M502I	RAG1_uc001mwt.3_Intron|RAG2_uc021qgc.1_Missense_Mutation_p.M502I|RAG2_uc021qgd.1_Missense_Mutation_p.M502I|RAG2_uc001mwv.4_Missense_Mutation_p.M502I|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	502					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GGAGGGATTTCATTGGAGGCT	0.408000									Familial Hemophagocytic Lymphohistiocytosis					34			32		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13794139	13794139	+	Missense_Mutation	SNP	C	T	T	rs140968268		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:13794139C>T	uc003jfd.2	-	47	7958	c.7916G>A	c.(7915-7917)cGa>cAa	p.R2639Q		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2639	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2639Q(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTACCCATTCGTTTATCCAC	0.368000									Kartagener syndrome					25			20		0	0	1	0	0
EID3	493861	broad.mit.edu	37	12	104698385	104698385	+	Silent	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:104698385T>C	uc001tkw.3	+	0	876	c.673T>C	c.(673-675)Ttg>Ctg	p.L225L	TXNRD1_uc021rcx.1_Intron|TXNRD1_uc021rcy.1_Intron|TXNRD1_uc021rcz.1_Intron|TXNRD1_uc021rda.1_Intron|TXNRD1_uc021rdb.1_Intron|TXNRD1_uc010swp.2_Intron|TXNRD1_uc010swq.2_Intron|TXNRD1_uc001tku.3_Intron|TXNRD1_uc001tkv.2_Intron	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN	Homo sapiens EP300 interacting inhibitor of differentiation 3 (EID3), mRNA.	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AGAAAGGATTTTGGGATTGTT	0.398000														20			11		0	0	1	0	0
RSBN1	54665	broad.mit.edu	37	1	114320371	114320371	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:114320371G>A	uc001edq.3	-	2	1473	c.1437C>T	c.(1435-1437)ctC>ctT	p.L479L	RSBN1_uc001edr.3_Non-coding_Transcript	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA.	479						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCTCCAACGAGACTTATCT	0.403000														5			41		0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2840755	2840755	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:2840755C>T	uc002whe.3	+	2	246	c.198C>T	c.(196-198)ctC>ctT	p.L66L	VPS16_uc002whf.3_Silent_p.L66L|VPS16_uc002whg.3_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	66					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GGCCAGTGCTCGATATATACT	0.592000														40			27		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47556855	47556855	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:47556855A>T	uc003gxk.1	+	10	1912	c.1748A>T	c.(1747-1749)tAc>tTc	p.Y583F	ATP10D_uc003gxl.1_Intron	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	583					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GAAACTTTGTACATTATCGAC	0.413000														28			26		0	0	1	0	0
ISX	91464	broad.mit.edu	37	22	35481508	35481508	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:35481508C>T	uc003anj.3	+	3	1511	c.560C>T	c.(559-561)tCg>tTg	p.S187L		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	187						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S187S(1)|p.P186A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						TGTTGTCCATCGGCTCAAGAT	0.612000														67			53		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18730175	18730175	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:18730175C>T	uc003wza.3	-	2	302	c.199G>A	c.(199-201)Gag>Aag	p.E67K		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	67					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CCACCTTCCTCCATGGTCCCA	0.498000														42			26		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76498990	76498990	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:76498990C>T	uc010dhp.2	-	31	5185	c.5060G>A	c.(5059-5061)tGg>tAg	p.W1687*	AK127460_uc002jvt.1_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTCCAGGATCCACTGCTCCCT	0.627000														23			14		0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19961759	19961759	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:19961759A>G	uc002zqz.3	-	11	2234	c.1964T>C	c.(1963-1965)tTt>tCt	p.F655S	ARVCF_uc002zqy.3_Missense_Mutation_p.F171S	NM_001670	NP_001661	O00192	ARVC_HUMAN	Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA.	655					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CAGCAGCTCAAAGCCTAGGTG	0.642000														9			3		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67829092	67829092	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:67829092G>A	uc009xpn.1	-	14	2256	c.2133C>T	c.(2131-2133)atC>atT	p.I711I	CTNNA3_uc001jmw.2_Silent_p.I711I	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	711					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCTCCATCATGATCATACACA	0.358000														21			40		0	0	1	0	0
RERG	85004	broad.mit.edu	37	12	15264278	15264278	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:15264278C>T	uc001rcs.3	-	3	332	c.192_splice	c.e3+1	p.Q64_splice	RERG_uc001rct.3_Splice_Site_p.Q64_splice|RERG_uc010shu.2_Splice_Site_p.Q45_splice	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	64					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	GDP binding|GTP binding|GTPase activity|estrogen receptor binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CTTTATTCACCTGACCAGCAG	0.353000														61			20		0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129221700	129221700	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:129221700A>T	uc003eml.3	+	20	2881	c.2675A>T	c.(2674-2676)cAc>cTc	p.H892L	IFT122_uc003emm.3_Missense_Mutation_p.H841L|IFT122_uc003emn.3_Missense_Mutation_p.H782L|IFT122_uc003emo.3_Missense_Mutation_p.H730L|IFT122_uc003emp.3_Missense_Mutation_p.H691L|IFT122_uc010htc.3_Missense_Mutation_p.H833L|IFT122_uc011bky.2_Missense_Mutation_p.H632L|IFT122_uc011bla.2_Missense_Mutation_p.H614L|IFT122_uc003emr.3_Missense_Mutation_p.H593L|IFT122_uc010hte.3_Missense_Mutation_p.H167L|IFT122_uc003ems.3_Missense_Mutation_p.H222L|IFT122_uc011bkx.1_Missense_Mutation_p.H681L|IFT122_uc010htd.1_Missense_Mutation_p.H320L	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	841					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		p.L891L(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GTGCAGCTGCACGTGGAGACC	0.647000														28			19		0	0	1	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084304	26084304	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:26084304G>A	uc002wvj.4	-	1	167	c.112C>T	c.(112-114)Cca>Tca	p.P38S						Homo sapiens nuclear receptor corepressor 1 pseudogene 1 (NCOR1P1), non-coding RNA.									p.P38T(1)									CCAAATGCTGGATCCTTTAGA	0.393000														32			6		0	0	1	0	0
HEATR7A	727957	broad.mit.edu	37	8	145278091	145278091	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:145278091C>T	uc003zbk.4	+	13	1533	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	HEATR7A_uc011lla.1_Silent_p.I432I|HEATR7A_uc010mft.3_Silent_p.I432I	NM_032450	NP_115826	Q8NDA8	HTR7A_HUMAN	Homo sapiens HEAT repeat containing 7A (HEATR7A), transcript variant 1, mRNA.	432							binding			endometrium(2)|kidney(2)|lung(3)|skin(1)	8						AGGCGATGATCGAGTACATCG	0.652000														7			7		0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5082414	5082414	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:5082414C>T	uc010xim.2	+	7	925	c.817C>T	c.(817-819)Ccc>Tcc	p.P273S	KDM4B_uc010xil.1_Missense_Mutation_p.P273S|KDM4B_uc002mbq.4_Missense_Mutation_p.P273S|KDM4B_uc002mbr.4_Missense_Mutation_p.P31S	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	273	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GATCACATTTCCCTACGGCTA	0.597000														5			25		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32733298	32733298	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:32733298C>T	uc010ezu.3	+	50	10086	c.9952C>T	c.(9952-9954)Cca>Tca	p.P3318S		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	3318					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TCCATTCCTTCCATCTGAAGA	0.373000														9			10		0	0	1	0	0
GIPC2	54810	broad.mit.edu	37	1	78601371	78601371	+	Missense_Mutation	SNP	G	A	A	rs138793126		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:78601371G>A	uc001dik.3	+	5	1082	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K		NM_017655	NP_060125	Q8TF65	GIPC2_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 2 (GIPC2), mRNA.	298						cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						GTTCCCAGACGAATTTGTCTT	0.423000														22			14		0	0	1	0	0
SFXN2	118980	broad.mit.edu	37	10	104488272	104488272	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:104488272C>T	uc001kwb.2	+	3	583	c.417C>T	c.(415-417)tcC>tcT	p.S139S	SFXN2_uc001kwc.2_Non-coding_Transcript	NM_178858	NP_849189	Q96NB2	SFXN2_HUMAN	Homo sapiens sideroflexin 2 (SFXN2), mRNA.	139					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		ATGCGGCTTCCCCCACATCAG	0.562000														11			18		0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44259723	44259723	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:44259723C>T	uc003tkq.2	-	22	2149	c.1939G>A	c.(1939-1941)Gac>Aac	p.D647N	CAMK2B_uc003tkp.2_Missense_Mutation_p.D523N|CAMK2B_uc003tkr.2_Missense_Mutation_p.D499N|CAMK2B_uc003tks.2_Missense_Mutation_p.D498N|CAMK2B_uc003tku.2_Missense_Mutation_p.D484N|CAMK2B_uc003tkv.2_Missense_Mutation_p.D460N|CAMK2B_uc003tkt.2_Missense_Mutation_p.D473N|CAMK2B_uc003tkw.2_Missense_Mutation_p.D430N|CAMK2B_uc010kyc.2_Missense_Mutation_p.D523N|CAMK2B_uc003tkn.2_Missense_Mutation_p.D280N	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA.	647					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						CACTTGCCGTCGCGGCGGTGC	0.667000														8			6		0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74347574	74347574	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:74347574G>A	uc003hhb.3	+	0	113	c.82G>A	c.(82-84)Gat>Aat	p.D28N		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	28	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)			ACAACCTCGGGATATAGGTAA	0.294000														20			14		0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175473144	175473144	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:175473144T>A	uc003fit.3	+	12	2214	c.2127T>A	c.(2125-2127)aaT>aaA	p.N709K		NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	709					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GGATGCTGAATGACATTCTCC	0.468000														12			11		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706525	96706525	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:96706525C>T	uc010how.1	+	2	845	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	EPHA6_uc003drp.1_Missense_Mutation_p.R268C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	173						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R174C(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CACTGAAATTCGTGAGGTGGG	0.443000														137			96		0	0	1	0	0
GPC2	221914	broad.mit.edu	37	7	99771509	99771509	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:99771509G>A	uc003utv.3	-	4	1009	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C	GPC2_uc010lgr.3_Intron|GPC2_uc003utw.1_3'UTR	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	Homo sapiens glypican 2 (GPC2), mRNA.	281						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGACAGCCACGAACCACGTTG	0.627000														128			90		0	0	1	0	0
FKBP5	2289	broad.mit.edu	37	6	35604866	35604866	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:35604866C>T	uc011dte.1	-	2	378	c.175G>A	c.(175-177)Gga>Aga	p.G59R	FKBP5_uc003okx.2_Missense_Mutation_p.G59R|FKBP5_uc011dtf.1_Intron|FKBP5_uc003oky.2_Missense_Mutation_p.G59R|FKBP5_uc003okz.2_Missense_Mutation_p.G59R	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	59	PPIase FKBP-type 1.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						GACAATTTTCCTTTGTAATGG	0.358000														38			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074082	9074082	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:9074082G>A	uc002mkp.3	-	2	13568	c.13364C>T	c.(13363-13365)tCc>tTc	p.S4455F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4457	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						AGGTGTCAGGGAAGAGGGATA	0.493000														10			74		0	0	1	0	0
TMEM241	85019	broad.mit.edu	37	18	20889667	20889667	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:20889667G>A	uc002kuf.3	-	13	916	c.807C>T	c.(805-807)atC>atT	p.I269I	TMEM241_uc010xaq.2_Non-coding_Transcript|TMEM241_uc010xar.2_Non-coding_Transcript|TMEM241_uc002kug.3_Non-coding_Transcript|TMEM241_uc002kuh.3_Non-coding_Transcript|TMEM241_uc002kue.3_Non-coding_Transcript	NM_032933	NP_116322	Q24JQ0	CR045_HUMAN	Homo sapiens transmembrane protein 241 (TMEM241), mRNA.	269						integral to membrane											CACTGGTCAGGATCGCATCAA	0.398000														39			20		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990681	47990681	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:47990681C>T	uc002xur.1	-	1	1582	c.1416G>A	c.(1414-1416)atG>atA	p.M472I	KCNB1_uc002xus.1_Missense_Mutation_p.M472I	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	472					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.M472V(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTTTCTTACCCATATTCTCCC	0.423000														62			43		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10439889	10439889	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:10439889C>T	uc010coi.3	-	16	2060	c.1932G>A	c.(1930-1932)aaG>aaA	p.K644K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.K644K|MYH2_uc010coj.3_Silent_p.K644K	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	644	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGCCCTTCTTCTTACCACCTT	0.418000														15			9		0	0	1	0	0
DMPK	1760	broad.mit.edu	37	19	46275981	46275981	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:46275981A>T	uc002pdi.1	-	10	1526	c.1340T>A	c.(1339-1341)aTg>aAg	p.M447K	DMPK_uc021uwb.1_5'Flank|DMPK_uc010xxs.1_Missense_Mutation_p.M332K|DMPK_uc002pdd.1_Missense_Mutation_p.M431K|DMPK_uc002pde.1_Missense_Mutation_p.M426K|DMPK_uc002pdg.1_Missense_Mutation_p.M416K|DMPK_uc002pdf.1_Missense_Mutation_p.M421K|DMPK_uc002pdh.1_Missense_Mutation_p.M416K|DMPK_uc010xxt.1_Missense_Mutation_p.M416K	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	431					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E447*(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CTCCAGTTCCATGGGTGTGGG	0.617000														41			21		0	0	1	0	0
DCDC2	51473	broad.mit.edu	37	6	24278290	24278290	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:24278290G>A	uc003ndx.3	-	6	1211	c.909C>T	c.(907-909)acC>acT	p.T303T	DCDC2_uc003ndy.3_Silent_p.T303T	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA.	303					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)				TATTTGGAATGGTTTCTTGTG	0.333000														26			4		0	0	1	0	0
CPNE2	221184	broad.mit.edu	37	16	57171134	57171134	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:57171134C>T	uc010cct.2	+	14	1667	c.1320C>T	c.(1318-1320)tcC>tcT	p.S440S	CPNE2_uc002eks.2_Silent_p.S414S|CPNE2_uc010ccu.2_Silent_p.S414S|CPNE2_uc002ekt.1_Intron	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN	Homo sapiens copine II (CPNE2), mRNA.	414	VWFA.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CCAATTTCTCCCCCATCGTCA	0.612000														25			12		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173535	51173535	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:51173535C>T	uc021tif.1	-	1	2629	c.2307G>A	c.(2305-2307)ttG>ttA	p.L769L	SALL1_uc021tid.1_Silent_p.L769L|SALL1_uc021tie.1_Silent_p.L866L|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	866					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)			TCTGATTTTCCAAAGCAGCGA	0.552000														30			23		0	0	1	0	0
PNOC	5368	broad.mit.edu	37	8	28196745	28196745	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:28196745C>T	uc010lva.2	+	2	523	c.315C>T	c.(313-315)ttC>ttT	p.F105F	PNOC_uc003xgp.3_Silent_p.F105F|PNOC_uc011lau.1_Silent_p.F41F	NM_006228	NP_006219	Q13519	PNOC_HUMAN	Homo sapiens prepronociceptin (PNOC), mRNA.	105					neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		GGAGCTTGTTCCAGGAGCAGG	0.642000														17			15		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802718	185802718	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:185802718C>T	uc002uph.3	+	3	3189	c.2595C>T	c.(2593-2595)atC>atT	p.I865I		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	865						intracellular	zinc ion binding	p.I865I(2)		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						TTGCAAAAATCGAAAGGAACT	0.358000														23			21		0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89259262	89259262	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:89259262C>T	uc003dqy.3	+	2	631	c.406C>T	c.(406-408)Cga>Tga	p.R136*	EPHA3_uc003dqx.1_Nonsense_Mutation_p.R136*|EPHA3_uc021xbf.1_Nonsense_Mutation_p.R136*	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	136						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)		GGTGAAATTTCGAGAGCATCA	0.418000										TSP Lung(6;0.00050)				57			42		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189839238	189839238	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:189839238G>A	uc002uqj.1	+	0	140	c.23G>A	c.(22-24)gGg>gAg	p.G8E		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	8					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GTGCAAAAGGGGAGCTGGCTA	0.398000														31			12		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814615	106814615	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:106814615C>T	uc003ymd.3	+	7	2328	c.2305C>T	c.(2305-2307)Cct>Tct	p.P769S	ZFPM2_uc011lhs.2_Missense_Mutation_p.P500S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	769					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCTCAATAATCCTTGTACCTC	0.473000														26			9		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117376437	117376437	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:117376437C>T	uc001prh.1	-	8	1976	c.1974G>A	c.(1972-1974)ctG>ctA	p.L658L		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	598	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGGCTGGATCAGAGGGGGCA	0.647000														5			12		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169176921	169176921	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:169176921G>A	uc003irp.3	-	25	3790	c.3498C>T	c.(3496-3498)gcC>gcT	p.A1166A		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1166							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)		CCATGACATGGGCTTCTTTAT	0.363000														28			22		0	0	1	0	0
HIST1H4G	8369	broad.mit.edu	37	6	26247008	26247008	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:26247008C>T	uc003nhf.3	-	0	198	c.198G>A	c.(196-198)gtG>gtA	p.V66V		NM_003547	NP_003538	Q99525	H4G_HUMAN	Homo sapiens histone cluster 1, H4g (HIST1H4G), mRNA.	66					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CGTACCAGATCACATTTTCCA	0.602000														32			16		0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784649	30784649	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:30784649A>T	uc002wxn.2	-	2	1314	c.1097T>A	c.(1096-1098)cTt>cAt	p.L366H		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	366						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCTTCCAGGAAGCTCCGCCAG	0.582000														26			16		0	0	1	0	0
RD3	343035	broad.mit.edu	37	1	211652529	211652529	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:211652529G>A	uc001him.2	-	2	1601	c.437C>T	c.(436-438)cCc>cTc	p.P146L	RD3_uc001hin.2_Missense_Mutation_p.P146L|RD3_uc009xda.2_Non-coding_Transcript	NM_183059	NP_898882	Q7Z3Z2	RD3_HUMAN	Homo sapiens retinal degeneration 3 (RD3), transcript variant 1, mRNA.	146					response to stimulus|visual perception			p.P146L(2)		central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GCTGCCGCGGGGCCGCAGGCT	0.687000														17			4		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36115827	36115827	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:36115827C>T	uc003gsq.2	-	25	4459	c.4121G>A	c.(4120-4122)tGg>tAg	p.W1374*		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1374	Ras-associating.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.W1374L(2)		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						AAATGTGGCCCAAATATCACC	0.294000														67			36		0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91424778	91424778	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:91424778C>T	uc002bpu.1	+	15	2271	c.2055C>T	c.(2053-2055)tcC>tcT	p.S685S	FES_uc002bpv.3_5'Flank|FES_uc010uqj.2_5'Flank|FES_uc010uqk.2_5'Flank	NM_002569	NP_002560	P09958	FURIN_HUMAN	Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA.	685	Cys-rich.				Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GCCGAGAGTCCCCGCCACAGC	0.721000														110			61		0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71300720	71300720	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:71300720C>T	uc010ukf.2	+	11	1493	c.1187C>T	c.(1186-1188)cCt>cTt	p.P396L	LRRC49_uc002asu.3_Missense_Mutation_p.P381L|LRRC49_uc002asx.3_Missense_Mutation_p.P347L|LRRC49_uc002asw.3_Missense_Mutation_p.P391L|LRRC49_uc002asy.3_Missense_Mutation_p.P97L|LRRC49_uc002asz.3_Missense_Mutation_p.P363L	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	391						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TTTTCCAGGCCTCTAGACTCA	0.373000														53			19		0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	124998089	124998089	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:124998089G>A	uc003ehx.4	-	5	948	c.462C>T	c.(460-462)atC>atT	p.I154I	SLC12A8_uc003ehw.4_5'UTR|ZNF148_uc003ehz.4_Silent_p.I154I|ZNF148_uc010hsa.3_Silent_p.I154I|ZNF148_uc003eia.4_Silent_p.I154I|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	154					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTATTGTAAGGATCTAGTTCA	0.308000														30			21		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25861613	25861613	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:25861613G>A	uc001isj.3	+	6	1610	c.1550G>A	c.(1549-1551)cGa>cAa	p.R517Q		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	517						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACGGCTCAACGAATTCCATAT	0.408000														8			30		0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60484458	60484458	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:60484458G>A	uc010wpc.2	+	9	979	c.908G>A	c.(907-909)gGg>gAg	p.G303E	EFCAB3_uc002izu.2_Missense_Mutation_p.G251E	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA.	251							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AATGTGGATGGGGTGGTGATG	0.358000														37			30		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151165643	151165643	+	Missense_Mutation	SNP	C	T	T	rs79636265	byFrequency	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:151165643C>T	uc011bod.2	-	3	2126	c.2126G>A	c.(2125-2127)gGa>gAa	p.G709E		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	709					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)			GGTGTGTTTTCCAACCTCAGC	0.488000														26			20		0	0	1	0	0
CALM1	801	broad.mit.edu	37	14	90870227	90870227	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:90870227C>T	uc001xyl.2	+	3	448	c.200C>T	c.(199-201)cCc>cTc	p.P67L	CALM1_uc010atq.2_Missense_Mutation_p.P68L|CALM1_uc001xym.2_Missense_Mutation_p.P31L	NM_006888	NP_005175	P62158	CALM_HUMAN	Homo sapiens calmodulin 1 (phosphorylase kinase, delta) (CALM1), transcript variant 1, mRNA.	67	EF-hand 2.				G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	N-terminal myristoylation domain binding|calcium ion binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	ATTGACTTCCCCGAATTTTTG	0.388000														13			10		0	0	1	0	0
OR5B21	219968	broad.mit.edu	37	11	58274928	58274928	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:58274928G>A	uc010rki.2	-	0	651	c.651C>T	c.(649-651)ttC>ttT	p.F217F		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 21 (OR5B21), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F217Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGATGCATATGAAGAAGTAAG	0.473000														22			17		0	0	1	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416899	57416899	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:57416899C>T	uc002eli.3	+	2	1216	c.1149C>T	c.(1147-1149)atC>atT	p.I383I		NM_002996	NP_002987	P78423	X3CL1_HUMAN	Homo sapiens chemokine (C-X3-C motif) ligand 1 (CX3CL1), mRNA.	383					cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTCGCTACATCCCCCGGAGCT	0.587000														63			45		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140773223	140773223	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140773223C>T	uc003lkd.2	+	0	1741	c.843C>T	c.(841-843)ttC>ttT	p.F281F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Silent_p.F281F|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	281	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATACAAATTCCGGAAAATTA	0.413000														59			30		0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38035853	38035854	+	Splice_Site	DNP	GG	AA	AA			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:38035853_38035854GG>AA	uc003ati.3	+	1	797	c.59_splice	c.e1+1	p.R20_splice	SH3BP1_uc003atg.1_Splice_Site|SH3BP1_uc011anl.1_Splice_Site_p.R20_splice|SH3BP1_uc003ath.1_Splice_Site_p.R20_splice|SH3BP1_uc003atj.1_Splice_Site|SH3BP1_uc003atk.1_5'Flank	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	20	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					AGCTTGGGACGGTGAGTGTCAC	0.698000														5			4		0	0	1	0	0
CD300E	342510	broad.mit.edu	37	17	72613293	72613293	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:72613293C>T	uc002jlb.2	-	1	489	c.352G>A	c.(352-354)Gat>Aat	p.D118N		NM_181449	NP_852114	Q496F6	CLM2_HUMAN	Homo sapiens CD300e molecule (CD300E), mRNA.	118	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity	p.R117H(1)		breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						TCCGAGGGATCGCGTGACCAT	0.537000														54			23		0	0	1	0	0
MS4A10	341116	broad.mit.edu	37	11	60558500	60558500	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:60558500C>T	uc001npz.1	+	2	333	c.237C>T	c.(235-237)gcC>gcT	p.A79A		NM_206893	NP_996776	Q96PG2	M4A10_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 10 (MS4A10), mRNA.	79						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						GCTACCTGGCCTCTATAGTCA	0.582000														71			43		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128389895	128389895	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:128389895C>T	uc002top.3	+	37	5299	c.5246C>T	c.(5245-5247)cCc>cTc	p.P1749L	MYO7B_uc002tos.2_5'Flank	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1749	MyTH4 2.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGGCTGCTGCCCCATGCCCAG	0.662000														30			32		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196682511	196682511	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:196682511C>T	uc002utj.4	-	49	9435	c.9334G>A	c.(9334-9336)Gat>Aat	p.D3112N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3112	AAA 5 (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						AGAAGCTGATCTTGCATTCCC	0.333000														20			17		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110454331	110454331	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:110454331G>A	uc003yne.3	+	34	4404	c.4300G>A	c.(4300-4302)Ggg>Agg	p.G1434R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1434	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)			GTTTCTTAGAGGGATAGGATA	0.438000										HNSCC(38;0.096)				24			16		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33293129	33293129	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:33293129C>T	uc001wrq.3	+	12	6280	c.6110C>T	c.(6109-6111)tCc>tTc	p.S2037F		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	2037					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGCAACATTTCCTGTTGCAAC	0.428000														29			15		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103629630	103629630	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:103629630G>A	uc022ajr.1	-	0	334	c.174C>T	c.(172-174)tcC>tcT	p.S58S	RELN_uc022ajq.1_Silent_p.S58S|RELN_uc010liz.3_Silent_p.S58S	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	58	Reelin.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAATATGCAGGGAAATGAGCA	0.652000														43			17		0	0	1	0	0
INTS8	55656	broad.mit.edu	37	8	95869074	95869074	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:95869074C>T	uc003yhb.3	+	14	1948	c.1822C>T	c.(1822-1824)Cgt>Tgt	p.R608C	INTS8_uc003yha.1_Missense_Mutation_p.R608C|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Missense_Mutation_p.R435C	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	608					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ACCGAAGCTTCGTCAGGTCAT	0.468000														332			225		0	0	1	0	0
FRMD4B	23150	broad.mit.edu	37	3	69360499	69360499	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:69360499G>A	uc003dnv.2	-	2	528	c.238C>T	c.(238-240)Cta>Tta	p.L80L	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnx.1_Silent_p.L26L|FRMD4B_uc003dny.3_Silent_p.L80L	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	Homo sapiens FERM domain containing 4B (FRMD4B), mRNA.	80	FERM.					cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TCTCTTGCTAGAAGTTTGGGC	0.378000														8			8		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279172	47279172	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:47279172G>A	uc001cqn.4	+	4	598	c.514G>A	c.(514-516)Gct>Act	p.A172T	CYP4B1_uc009vyl.1_Missense_Mutation_p.A9T|CYP4B1_uc001cqm.4_Missense_Mutation_p.A172T|CYP4B1_uc009vym.3_Missense_Mutation_p.A157T|CYP4B1_uc010omk.2_Missense_Mutation_p.A9T|CYP4B1_uc010oml.1_Missense_Mutation_p.A9T	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	172					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GGAAGAGAAAGCTCGGGAGGG	0.572000														24			15		0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878510	5878510	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:5878510G>A	uc010qzr.2	-	0	423	c.423C>T	c.(421-423)atC>atT	p.I141I	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTGGTGAGGATCATGGTGT	0.498000														108			77		0	0	1	0	0
C17orf66	256957	broad.mit.edu	37	17	34192307	34192307	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:34192307C>T	uc002hke.1	-	2	381	c.232G>A	c.(232-234)Gag>Aag	p.E78K	C17orf66_uc010wck.1_Non-coding_Transcript|C17orf66_uc010wcl.1_Missense_Mutation_p.E78K|C17orf66_uc010wcm.1_Missense_Mutation_p.E44K	NM_152781	NP_689994	A2RTY3	CQ066_HUMAN	Homo sapiens chromosome 17 open reading frame 66 (C17orf66), mRNA.	78							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GTGTAGATCTCAGGTTTCTTG	0.517000														24			18		0	0	1	0	0
VWC2L	402117	broad.mit.edu	37	2	215279072	215279072	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:215279072G>A	uc002vet.2	+	1	285	c.155G>A	c.(154-156)gGg>gAg	p.G52E	VWC2L_uc010zjl.1_Missense_Mutation_p.G52E	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	52	VWFC 1.					extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						CGAGGGAAAGGGTGTGTCGAT	0.473000														18			9		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826601	43826601	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:43826601C>T	uc010skx.2	-	19	2734	c.2734G>A	c.(2734-2736)Ggc>Agc	p.G912S	ADAMTS20_uc001rno.1_Missense_Mutation_p.G66S|ADAMTS20_uc001rnp.1_Missense_Mutation_p.G66S	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	912	TSP type-1 3.			WHVIG -> GMLLAK (in Ref. 1; AAO15766).		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)		TCACTTTTGCCAATAACATGC	0.343000														51			42		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33147619	33147619	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:33147619G>A	uc001wrq.3	+	7	3003	c.2833G>A	c.(2833-2835)Gaa>Aaa	p.E945K	AKAP6_uc010aml.3_Missense_Mutation_p.E942K	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	945					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAAGCGAAAGGAAGAGTTTGC	0.413000														24			23		0	0	1	0	0
COL23A1	91522	broad.mit.edu	37	5	177697355	177697355	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:177697355C>T	uc021yiz.1	-	5	809	c.451G>A	c.(451-453)Ggt>Agt	p.G151S	COL23A1_uc021yiy.1_5'UTR|COL23A1_uc010jkt.2_5'UTR	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	151	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCATCCAAACCCAGGGGTCCC	0.577000														15			4		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3101041	3101041	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:3101041G>A	uc021xkv.1	+	2	533	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	130					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)		CATCGCTATGGAACTTTTTCT	0.423000														33			30		0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77277428	77277428	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:77277428C>T	uc004aji.3	+	5	880	c.831C>T	c.(829-831)atC>atT	p.I277I	RORB_uc004ajh.3_Silent_p.I266I	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	277	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CCATCCAGATCACTCACGCCA	0.463000														10			42		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124179772	124179772	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:124179772C>T	uc010sag.2	-	0	891	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D296N(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ATGCTTTCTTCACATCCTTAT	0.408000														5			18		0	0	1	0	0
STEAP3	55240	broad.mit.edu	37	2	120003117	120003118	+	Missense_Mutation	DNP	GG	CA	CA			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:120003117_120003118GG>CA	uc002tlp.3	+	2	202_203	c.45_46GG>CA	c.(43-48)gtggac>gtCAac	p.D16N	STEAP3_uc002tlq.3_Missense_Mutation_p.D26N|STEAP3_uc002tlr.3_Missense_Mutation_p.D16N|STEAP3_uc010fle.3_Missense_Mutation_p.D16N	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	16					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						TCCACCTGGTGGACAGCGATAG	0.619000														30			17		0	0	1	0	0
RBM23	55147	broad.mit.edu	37	14	23374144	23374144	+	Silent	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:23374144A>G	uc001whg.3	-	8	1003	c.804T>C	c.(802-804)ggT>ggC	p.G268G	RBM23_uc001whh.3_Silent_p.G252G|RBM23_uc001whi.3_Silent_p.G234G|RBM23_uc010tne.2_Silent_p.G98G|RBM23_uc001whj.3_Silent_p.G18G|RBM23_uc001whk.1_Silent_p.G268G	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN	Homo sapiens RNA binding motif protein 23 (RBM23), transcript variant 1, mRNA.	268	RRM 2.				mRNA processing	nucleus	RNA binding|nucleotide binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		AGTGCAGGGAACCCACATAGA	0.512000														87			68		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95757591	95757591	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:95757591C>T	uc003kls.2	-	4	852	c.613G>A	c.(613-615)Gag>Aag	p.E205K	PCSK1_uc021ybq.1_Missense_Mutation_p.E158K	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	205	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.E205*(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)	CACTTGTTCTCGTTTGTGGGA	0.338000														69			56		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104898359	104898359	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:104898359C>T	uc003yls.3	+	1	1107	c.866C>T	c.(865-867)tCg>tTg	p.S289L	RIMS2_uc003ylp.3_Missense_Mutation_p.S511L|RIMS2_uc003ylw.2_Missense_Mutation_p.S319L|RIMS2_uc003ylq.3_Missense_Mutation_p.S319L|RIMS2_uc003ylr.3_Missense_Mutation_p.S319L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	542					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.S289L(1)|p.S547L(1)|p.S319L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGCCAGATTTCGTTGAGCAGT	0.428000										HNSCC(12;0.0054)				19			14		0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354406	57354406	+	Missense_Mutation	SNP	G	A	A	rs148519224		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:57354406G>A	uc003xsz.2	-	1	310	c.229C>T	c.(229-231)Cct>Tct	p.P77S	PENK_uc003xta.3_Missense_Mutation_p.P77S	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	77					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.P77S(2)		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)			CCATCTTGAGGAAGCTCTGGT	0.483000														68			44		0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88767428	88767428	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:88767428C>T	uc021xpx.1	+	3	1513	c.1501C>T	c.(1501-1503)Cat>Tat	p.H501Y	MEPE_uc021xpu.1_Missense_Mutation_p.H470Y|MEPE_uc021xpv.1_Missense_Mutation_p.H357Y|MEPE_uc021xpw.1_Missense_Mutation_p.H357Y|MEPE_uc010ikn.3_Missense_Mutation_p.H357Y|MEPE_uc003hqy.3_Missense_Mutation_p.H470Y|MEPE_uc021xpy.1_Missense_Mutation_p.H357Y	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	470					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.R501K(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)		CAGAAAATATCATTATGTACC	0.418000														33			21		0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42331266	42331266	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:42331266C>T	uc002xlb.1	+	7	1303	c.1088C>T	c.(1087-1089)gCc>gTc	p.A363V	MYBL2_uc010zwj.1_Missense_Mutation_p.A339V	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	363						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGCCTTCCGCCCTGGTGCCC	0.632000														67			59		0	0	1	0	0
SCGN	10590	broad.mit.edu	37	6	25689443	25689443	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:25689443G>A	uc003nfb.3	+	7	774	c.571G>A	c.(571-573)Gat>Aat	p.D191N	SCGN_uc010jpz.3_Missense_Mutation_p.D82N	NM_006998	NP_008929	O76038	SEGN_HUMAN	Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA.	191						extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ATTTAAAATGGATGTAAGTAG	0.368000														50			22		0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33772687	33772687	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:33772687G>A	uc002hjk.1	-	0	343	c.13C>T	c.(13-15)Cac>Tac	p.H5Y	SLFN13_uc010wch.1_Missense_Mutation_p.H5Y|SLFN13_uc002hjl.2_Missense_Mutation_p.H5Y|SLFN13_uc002hjm.2_5'UTR|SLFN13_uc010ctt.2_Missense_Mutation_p.H5Y	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	5						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AGGGAGCAGTGATTTGCCTCC	0.373000														20			16		0	0	1	0	0
C1orf158	93190	broad.mit.edu	37	1	12815710	12815710	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:12815710C>T	uc001auh.3	+	1	388	c.172C>T	c.(172-174)Cca>Tca	p.P58S	C1orf158_uc010obe.1_Missense_Mutation_p.P58S	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN	Homo sapiens chromosome 1 open reading frame 158 (C1orf158), mRNA.	58										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	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;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCCCTTCCCAGACCACAG	0.502000														25			31		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46795689	46795689	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:46795689G>A	uc003bhw.1	-	9	5337	c.5337C>T	c.(5335-5337)atC>atT	p.I1779I	CELSR1_uc011arc.1_Silent_p.I100I	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1779	Laminin G-like 2.				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)		TCTTCAGCTCGATCAGCAGGT	0.592000														25			23		0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82366918	82366918	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:82366918C>T	uc003hmi.1	-	6	948	c.804G>A	c.(802-804)ttG>ttA	p.L268L	RASGEF1B_uc003hmj.1_Silent_p.L267L|RASGEF1B_uc010ijq.1_Silent_p.L226L	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	Homo sapiens RasGEF domain family, member 1B (RASGEF1B), mRNA.	268	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						CTGTAGCAACCAAGTAGCTGA	0.363000														15			10		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20477031	20477031	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:20477031C>T	uc010bwe.3	+	3	609	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Silent_p.L45L|ACSM2A_uc002dhf.4_Silent_p.L124L|ACSM2A_uc002dhg.4_Silent_p.L124L|ACSM2A_uc010vay.2_Silent_p.L45L	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	124					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCTGGTGATCCTGGGCTGCAT	0.582000														10			16		0	0	1	0	0
PPIC	5480	broad.mit.edu	37	5	122365030	122365030	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:122365030C>T	uc003kth.3	-	1	306	c.201G>A	c.(199-201)gtG>gtA	p.V67V	PPIC_uc011cwp.1_Silent_p.V67V	NM_000943	NP_000934	P45877	PPIC_HUMAN	Homo sapiens peptidylprolyl isomerase C (cyclophilin C) (PPIC), mRNA.	67	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	CAAAATTTTCCACTGTCTTGG	0.388000														49			16		0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	113625	113625	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:113625G>A	uc002cfl.4	-	3	565	c.422C>T	c.(421-423)cCc>cTc	p.P141L	RHBDF1_uc010uty.2_Missense_Mutation_p.P164L|RHBDF1_uc010utz.2_Missense_Mutation_p.P141L|RHBDF1_uc010bqo.1_Non-coding_Transcript	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	Homo sapiens rhomboid 5 homolog 1 (Drosophila) (RHBDF1), mRNA.	141					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GTAGAGTGGGGGTGGCGTCTC	0.677000														35			28		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537394	55537394	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:55537394G>A	uc003xsd.1	+	3	1100	c.952G>A	c.(952-954)Gat>Aat	p.D318N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	318					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)			TTCTGAAGATGATATTGAGAA	0.308000														22			11		0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223786022	223786022	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:223786022T>C	uc002vni.3	+	7	1281	c.830T>C	c.(829-831)tTg>tCg	p.L277S	ACSL3_uc002vnj.3_Missense_Mutation_p.L277S	NM_004457	NP_976251	O95573	ACSL3_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	277					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	AGCAAACCATTGCCCTCAGAT	0.378000			T	ETV1	prostate									34			33		0	0	1	0	0
DIS3L2	129563	broad.mit.edu	37	2	233028322	233028322	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:233028322C>T	uc010fxz.3	+	8	1380	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.	368							RNA binding|exonuclease activity|ribonuclease activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CAGAGGAGTTCAGCAAGAGAA	0.433000														18			12		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43699348	43699348	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:43699348C>T	uc002ovy.3	-	3	889	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.E170K	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	263	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTCTTAGGTTCACAGGTGAAG	0.453000														228			107		0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17139104	17139104	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:17139104C>T	uc001mmq.4	-	17	3215	c.3150G>A	c.(3148-3150)acG>acA	p.T1050T	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Silent_p.T670T|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	1050					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	GTACAAGTTTCGTCTGTTTTA	0.418000														52			22		0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118866303	118866304	+	Missense_Mutation	DNP	CC	TT	TT	rs113445078		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:118866303_118866304CC>TT	uc003ecb.1	+	0	1307_1308	c.1267_1268CC>TT	c.(1267-1269)cca>TTa	p.P423L	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.P423L	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	423										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ACCCTACAACCCAGTTGATGCC	0.446000														33			17		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215960037	215960037	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:215960037C>T	uc001hku.1	-	51	10749	c.10362G>A	c.(10360-10362)ggG>ggA	p.G3454G		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3454	Fibronectin type-III 19.				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.T3453R(1)|p.G3454W(1)		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)		TGTTTACACTCCCTGTATGAA	0.438000										HNSCC(13;0.011)				41			43		0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32828468	32828468	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:32828468G>A	uc003amn.2	-	9	1041	c.1041C>T	c.(1039-1041)ccC>ccT	p.P347P	BPIFC_uc010gwo.2_Intron|BPIFC_uc011amb.1_Silent_p.P71P	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	347						extracellular region	lipopolysaccharide binding|phospholipid binding										GATTGATTATGGGAGGCTCTG	0.488000														51			39		0	0	1	0	0
KLHL36	79786	broad.mit.edu	37	16	84690632	84690632	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:84690632C>T	uc002fig.3	+	2	360	c.219C>T	c.(217-219)tcC>tcT	p.S73S	KLHL36_uc010chl.3_Silent_p.S72S	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	Homo sapiens kelch-like 36 (Drosophila) (KLHL36), mRNA.	73	BTB.									endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ACTTCAACTCCATGTTCACCA	0.627000														24			15		0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6281242	6281242	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:6281242C>T	uc001mcp.3	+	0	339	c.84C>T	c.(82-84)ctC>ctT	p.L28L	CCKBR_uc001mcq.3_5'UTR|CCKBR_uc001mcr.3_Silent_p.L28L|CCKBR_uc001mcs.3_Silent_p.L28L	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	28					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)	GGGCGCCTCTCCTCAACAGCA	0.721000														13			6		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63246518	63246518	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:63246518G>A	uc001xfx.3	-	9	1998	c.1947C>T	c.(1945-1947)gtC>gtT	p.V649V	KCNH5_uc001xfy.3_Intron|KCNH5_uc001xfz.1_Silent_p.V591V	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	649					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AAAAGTCCAGGACTTTGAGCA	0.478000														47			25		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283051	5283051	+	Missense_Mutation	SNP	G	A	A	rs148868355	byFrequency	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:5283051G>A	uc010zqw.2	-	1	798	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C	PROKR2_uc010zqx.2_Missense_Mutation_p.R264C|PROKR2_uc010zqy.2_Missense_Mutation_p.R264C	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	264						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						AGCCGCTTGCGAATCTGCTCC	0.612000										HNSCC(71;0.22)				21			17		0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109883350	109883350	+	Silent	SNP	G	A	A	rs150785768		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:109883350G>A	uc001dxm.2	-	9	1309	c.1260C>T	c.(1258-1260)tcC>tcT	p.S420S	SORT1_uc010ovi.2_Silent_p.S283S	NM_002959	NP_002950	Q99523	SORT_HUMAN	Homo sapiens sortilin 1 (SORT1), transcript variant 1, mRNA.	420					Golgi to endosome transport|endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	Golgi cisterna membrane|cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ACTCACCTTCGGAGAGCACGC	0.557000														137			108		0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978897	247978897	+	Missense_Mutation	SNP	C	T	T	rs140410550		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:247978897C>T	uc001idm.1	-	0	135	c.135G>A	c.(133-135)atG>atA	p.M45I		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AAGTTGTGATCATGATAATGA	0.393000														48			18		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170002343	170002343	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:170002343C>T	uc002ues.3	-	69	13115	c.12902G>A	c.(12901-12903)gGg>gAg	p.G4301E		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4301					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.G4301E(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTTTCCTTGCCCAAATTTATT	0.403000														18			13		0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100912728	100912728	+	Missense_Mutation	SNP	G	A	A	rs2020880		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:100912728G>A	uc001pgh.2	-	6	3337	c.2594C>T	c.(2593-2595)tCg>tTg	p.S865L	PGR_uc001pgg.2_Missense_Mutation_p.S246L|PGR_uc001pgi.2_Missense_Mutation_p.S763L|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	865	Steroid-binding.		S -> L (in dbSNP:rs2020880).		cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CTGTGAGCTCGACACAACTCC	0.388000														22			9		0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9406189	9406189	+	Nonsense_Mutation	SNP	G	A	A	rs145027997	by1000genomes	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:9406189G>A	uc002mlc.1	-	4	1891	c.1891C>T	c.(1891-1893)Cga>Tga	p.R631*		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	Homo sapiens zinc finger protein 699 (ZNF699), mRNA.	631					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACATGCCTTCGAAAGTAGGCA	0.423000														53			30		0	0	1	0	0
CST9	128822	broad.mit.edu	37	20	23584308	23584308	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:23584308C>T	uc002wtl.3	-	1	428	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_001008693	NP_001008693	Q5W186	CST9_HUMAN	Homo sapiens cystatin 9 (testatin) (CST9), mRNA.	107						extracellular region	cysteine-type endopeptidase inhibitor activity	p.F106L(1)		central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					ATGTCATCTTCAAATTTCCTA	0.473000														82			55		0	0	1	0	0
MAPK7	5598	broad.mit.edu	37	17	19284811	19284811	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:19284811C>T	uc002gvn.3	+	3	1675	c.1289C>T	c.(1288-1290)gCc>gTc	p.A430V	MAPK7_uc002gvo.3_Missense_Mutation_p.A291V|MAPK7_uc002gvq.3_Missense_Mutation_p.A430V|MAPK7_uc002gvp.3_Missense_Mutation_p.A430V	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	430	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GGGGACTGTGCCATGGAGTCT	0.627000														41			27		0	0	1	0	0
OR3A1	4994	broad.mit.edu	37	17	3195299	3195299	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:3195299G>A	uc002fvh.1	-	0	578	c.578C>T	c.(577-579)tCc>tTc	p.S193F		NM_002550	NP_002541	P47881	OR3A1_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 1 (OR3A1), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TTGGGTGCTGGAGCAGGAGAG	0.527000														71			45		0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46244764	46244764	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:46244764C>T	uc003cph.1	-	1	1112	c.1041G>A	c.(1039-1041)ggG>ggA	p.G347G	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Silent_p.G347G	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	347					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GTTCATGCTCCCCTGTGGAGG	0.592000														23			28		0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95089958	95089958	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:95089958A>G	uc001ydp.3	+	4	1238	c.1079A>G	c.(1078-1080)aAg>aGg	p.K360R	SERPINA3_uc001ydo.4_Missense_Mutation_p.K385R|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Non-coding_Transcript|SERPINA3_uc010avg.3_Missense_Mutation_p.K360R|SERPINA3_uc001yds.3_Missense_Mutation_p.K360R	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	360					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)		GTGGTCCATAAGGCTGTGCTT	0.522000														37			23		0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89896481	89896481	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:89896481G>A	uc001pdf.4	+	9	1188	c.1079G>A	c.(1078-1080)aGg>aAg	p.R360K	NAALAD2_uc009yvx.3_Missense_Mutation_p.R327K|NAALAD2_uc009yvy.3_Intron|NAALAD2_uc001pde.3_Missense_Mutation_p.R267K	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	360	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTCCAGACAGGTATGTTATT	0.378000														76			48		0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25972870	25972870	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:25972870C>T	uc002rgs.2	-	10	1776	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K	ASXL2_uc002rgt.1_Missense_Mutation_p.E259K	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTAAAGATTCTTGGCTTTCA	0.458000														59			28		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307121	140307121	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140307121G>A	uc003lih.2	+	0	820	c.644G>A	c.(643-645)gGa>gAa	p.G215E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.G215E	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	239	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCGCTCAGGAGACGCACAA	0.587000														31			16		0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160031580	160031580	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:160031580C>T	uc002uag.3	+	11	1894	c.1620C>T	c.(1618-1620)gaC>gaT	p.D540D	TANC1_uc010fol.1_Silent_p.D434D|TANC1_uc010zcm.2_Silent_p.D532D|TANC1_uc010fom.1_Silent_p.D346D	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	540						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCTACAGAGACCTTCTGATAA	0.592000														75			49		0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126210952	126210952	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:126210952A>T	uc003qai.3	+	8	2121	c.1752A>T	c.(1750-1752)aaA>aaT	p.K584N	NCOA7_uc010kes.3_Missense_Mutation_p.K584N|NCOA7_uc003qae.4_Missense_Mutation_p.K584N|NCOA7_uc010ket.3_Missense_Mutation_p.K469N|NCOA7_uc003qah.3_Missense_Mutation_p.K573N	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	Homo sapiens nuclear receptor coactivator 7 (NCOA7), transcript variant 1, mRNA.	584					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.K584E(3)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CCTGGGTGAAAAAGGGAGAGC	0.468000														25			34		0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210574799	210574799	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:210574799C>T	uc002vde.1	+	11	5142	c.4894C>T	c.(4894-4896)Ccc>Tcc	p.P1632S	MAP2_uc002vdd.1_Missense_Mutation_p.P333S|MAP2_uc002vdf.1_Missense_Mutation_p.P276S|MAP2_uc002vdg.1_Missense_Mutation_p.P276S|MAP2_uc002vdh.1_Missense_Mutation_p.P333S|MAP2_uc002vdi.1_Missense_Mutation_p.P1628S	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1632					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ACCAGGAACCCCCAAGTCTGC	0.552000														52			30		0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900189	151900189	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:151900189G>A	uc022chj.1	-	0	612	c.612C>T	c.(610-612)atC>atT	p.I204I	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Silent_p.I204I|MAGEA12_uc022chi.1_Silent_p.I204I|MAGEA12_uc004fgc.3_Silent_p.I204I	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	204	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCAGGACGATTATCAGGA	0.577000														18			77		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584130	7584130	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:7584130G>A	uc003mxp.1	+	23	6914	c.6635G>A	c.(6634-6636)gGa>gAa	p.G2212E	DSP_uc003mxq.1_Missense_Mutation_p.G1613E|DSP_uc021yle.1_Missense_Mutation_p.G1769E	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2212	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)		TCCTTCCAAGGAATCAGACAA	0.463000														61			22		0	0	1	0	0
AK090553	0	broad.mit.edu	37	19	44503323	44503324	+	RNA	DNP	TT	CA	CA			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:44503323_44503324TT>CA	uc002oya.1	-	1		c.274_275AA>TG								Homo sapiens cDNA FLJ33234 fis, clone ASTRO2002064.																		AAGCAGTTCCTTTTGAGTTTGT	0.351000														24			11		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108751625	108751625	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:108751625C>T	uc003dxl.3	-	15	1594	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	MORC1_uc011bhn.2_Missense_Mutation_p.E503K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	503					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						AATTCTTTTTCCTGATAATTA	0.289000														24			12		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	120387737	120387737	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:120387737G>A	uc003vjj.1	+	5	2683	c.1718G>A	c.(1717-1719)cGa>cAa	p.R573Q		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	573					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.R573*(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TCTATCAGCCGATCCAGTTTA	0.303000														14			12		0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9187423	9187423	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:9187423C>T	uc001mhl.3	-	10	2500	c.2243G>A	c.(2242-2244)tGg>tAg	p.W748*	DENND5A_uc001mhk.3_Nonsense_Mutation_p.W91*|DENND5A_uc010rbw.2_Nonsense_Mutation_p.W748*|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	748										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TACAAACTTCCAATTGGTCTG	0.488000														47			31		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82437561	82437561	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:82437561T>A	uc001dit.4	+	15	3110	c.2929T>A	c.(2929-2931)Ttt>Att	p.F977I	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.F977I|LPHN2_uc001div.3_Missense_Mutation_p.F977I|LPHN2_uc009wcd.3_Missense_Mutation_p.F977I|LPHN2_uc001diw.3_Missense_Mutation_p.F561I|LPHN2_uc009wce.1_Missense_Mutation_p.F63I	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	990					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGATAACTACTTTATATGGAG	0.353000														20			12		0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887844	9887844	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:9887844G>A	uc002koi.4	+	1	1817	c.1368G>A	c.(1366-1368)aaG>aaA	p.K456K	TXNDC2_uc002koh.4_Silent_p.K389K|TXNDC2_uc021ugx.1_Silent_p.K389K	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	456	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TCCTGAGCAAGGAGGACTTTG	0.567000														15			16		0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169939973	169939973	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:169939973C>T	uc010zdc.2	+	2	740	c.628C>T	c.(628-630)Cct>Tct	p.P210S	DHRS9_uc002uep.3_Missense_Mutation_p.P150S|DHRS9_uc002ueq.3_Missense_Mutation_p.P150S|DHRS9_uc010zdd.2_Missense_Mutation_p.P150S|DHRS9_uc010zde.2_Missense_Mutation_p.P150S	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	150					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AAATATGCTTCCTTTGGTCAA	0.483000														37			22		0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433704	72433704	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:72433704C>T	uc004ebi.3	-	0	1007	c.625G>A	c.(625-627)Gat>Aat	p.D209N		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	209	Glu-rich (acidic).				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)					ACAGCATAATCATAATAATAG	0.438000														3			20		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12618858	12618858	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:12618858C>T	uc002gno.2	+	2	443	c.144C>T	c.(142-144)ttC>ttT	p.F48F	MYOCD_uc002gnn.2_Silent_p.F48F	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	48					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)		CAGCTGAATTCCATGAGCAAA	0.413000														19			11		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346374	70346374	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:70346374C>T	uc003hek.4	-	5	1612	c.1565G>A	c.(1564-1566)gGa>gAa	p.G522E	UGT2B4_uc011cap.2_Missense_Mutation_p.G386E|UGT2B4_uc003hel.4_3'UTR	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	522					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.T521A(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CCCCTTCTTTCCTGTTCTAAC	0.413000														43			30		0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21967496	21967496	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:21967496G>A	uc001wbc.3	-	8	1564	c.1472C>T	c.(1471-1473)cCc>cTc	p.P491L	METTL3_uc001wbb.3_Missense_Mutation_p.P336L	NM_019852	NP_062826	Q86U44	MTA70_HUMAN	Homo sapiens methyltransferase like 3 (METTL3), mRNA.	491					gene expression	nuclear speck	RNA binding|mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GAAGCCTTGGGGATTTCCTTT	0.418000														62			33		0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45489794	45489794	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:45489794C>T	uc002pai.3	+	6	808	c.754C>T	c.(754-756)Ccg>Tcg	p.P252S	CLPTM1_uc010ejv.1_Missense_Mutation_p.P150S|CLPTM1_uc010xxf.2_Missense_Mutation_p.P150S|CLPTM1_uc010xxg.2_Missense_Mutation_p.P238S	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	252					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CGACCACACGCCGTGGGTGAA	0.622000														73			470		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84605856	84605856	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:84605856C>T	uc004amn.3	+	3	518	c.471C>T	c.(469-471)tcC>tcT	p.S157S		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	157						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						CCTCTGTGTCCCCTTTGGCTT	0.562000														8			16		0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685552	125685552	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:125685552C>T	uc022cds.1	-	0	1040	c.1040G>A	c.(1039-1041)cGa>cAa	p.R347Q	DCAF12L1_uc004eul.3_Missense_Mutation_p.R347Q	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	347										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCCACCCTCTCGAGAACACAG	0.612000														4			25		0	0	1	0	0
KDSR	2531	broad.mit.edu	37	18	61018276	61018276	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:61018276G>A	uc010dpw.3	-	5	609	c.454C>T	c.(454-456)Ccc>Tcc	p.P152S	KDSR_uc010xem.2_Intron	NM_002035	NP_002026	Q06136	KDSR_HUMAN	Homo sapiens 3-ketodihydrosphingosine reductase (KDSR), mRNA.	152					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						GCCCGGCTGGGGTACACGCTG	0.552000														50			33		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179500317	179500317	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:179500317C>T	uc021vsy.1	-	175	34255	c.34030G>A	c.(34030-34032)Gaa>Aaa	p.E11344K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E5039K|TTN_uc021vta.1_Missense_Mutation_p.E4972K|TTN_uc021vtb.1_Missense_Mutation_p.E4847K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12271	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)			GCAGGGATTTCATCATATCCT	0.388000														7			4		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8770910	8770910	+	Splice_Site	SNP	T	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:8770910T>A	uc002wnb.3	+	31	3426	c.3423_splice	c.e31+2	p.K1141_splice	PLCB1_uc002wna.3_Splice_Site_p.K1141_splice	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	1141					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						AAGCCCAAGGTAAACGGAACT	0.358000														0			5		0	0	1	0	0
HSPA13	6782	broad.mit.edu	37	21	15746247	15746247	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:15746247G>A	uc002yjt.3	-	4	1176	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L	HSPA13_uc011abx.2_Silent_p.L161L	NM_006948	NP_008879	P48723	HSP13_HUMAN	Homo sapiens heat shock protein 70kDa family, member 13 (HSPA13), mRNA.	369						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GGGTATCAAAGAGTTTCCGTG	0.418000														63			44		0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17795676	17795676	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:17795676C>A	uc003zna.3	+	8	1282	c.994C>A	c.(994-996)Ctg>Atg	p.L332M	SH3GL2_uc011lmy.2_Missense_Mutation_p.L285M	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	332	SH3.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	Golgi membrane|cytosol|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		TGAGGGGATGCTGCATGGCCA	0.483000														12			3		1	1	1	1	0
KRT9	3857	broad.mit.edu	37	17	39723556	39723556	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:39723556C>T	uc002hxe.4	-	6	1907	c.1841G>A	c.(1840-1842)gGa>gAa	p.G614E	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	614	Tail.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				gcttcctcctccgtagccgcc	0.537000														28			19		0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170028325	170028325	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:170028325G>A	uc003isa.1	-	10	2506	c.2171C>T	c.(2170-2172)tCt>tTt	p.S724F		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	724						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GGAGGCGCCAGAAAGCAACTT	0.502000														17			20		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138584581	138584581	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:138584581G>A	uc003qhu.3	+	11	2132	c.1961G>A	c.(1960-1962)cGa>cAa	p.R654Q		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	654	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.R583Q(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CGGTCCCTGCGAACTGCCGCC	0.617000														56			36		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121403206	121403206	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:121403206G>A	uc001pxx.3	+	11	1759	c.1630G>A	c.(1630-1632)Gac>Aac	p.D544N		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	544					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)		CACATGGGGAGACCACGGCGG	0.488000														9			11		0	0	1	0	0
WDR12	55759	broad.mit.edu	37	2	203759326	203759326	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:203759326C>T	uc002uzl.3	-	6	1383	c.633G>A	c.(631-633)aaG>aaA	p.K211K		NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	Homo sapiens WD repeat domain 12 (WDR12), mRNA.	211	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	PeBoW complex|nucleoplasm|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TCTTTAGCATCTTATCCCAGG	0.323000														123			97		0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35706282	35706282	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:35706282G>A	uc003ola.3	+	2	539	c.512G>A	c.(511-513)aGg>aAg	p.R171K	FKBP5_uc010jvy.2_5'Flank|ARMC12_uc003olb.1_Missense_Mutation_p.R144K	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA.	144							binding										AGAAAATTCAGGCTCAAAATC	0.463000														79			28		0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63086369	63086369	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:63086369C>T	uc002sby.3	+	8	1287	c.805C>T	c.(805-807)Cca>Tca	p.P269S	EHBP1_uc010fcp.3_Missense_Mutation_p.P234S|EHBP1_uc002sbx.2_Missense_Mutation_p.P234S|EHBP1_uc002sbz.3_Missense_Mutation_p.P234S|EHBP1_uc002scb.3_Missense_Mutation_p.P234S	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	269						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GAATTCAAATCCATTTGATGA	0.353000														29			25		0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100625006	100625006	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:100625006C>T	uc010nno.2	-	4	706	c.473G>A	c.(472-474)tGg>tAg	p.W158*	BTK_uc004ehg.2_Nonsense_Mutation_p.W124*|BTK_uc010nnn.2_Nonsense_Mutation_p.W124*|BTK_uc004ehi.3_Nonsense_Mutation_p.W124*	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	124					calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTGGTGAATCCACCGCTTCCT	0.428000									Agammaglobulinemia, X-linked					8			43		0	0	1	0	0
FTSJD2	23070	broad.mit.edu	37	6	37403511	37403511	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:37403511C>T	uc003ons.3	+	1	359	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	FTSJD2_uc010jwu.2_Missense_Mutation_p.P36S	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	36					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						TGATGAACCTCCCTCCTCTGT	0.512000														45			15		0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102878237	102878237	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:102878237G>A	uc003vbh.4	-	11	2640	c.449C>T	c.(448-450)cCc>cTc	p.P150L	DPY19L2P2_uc003vbg.4_Non-coding_Transcript|DPY19L2P2_uc010lit.3_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 2 (C. elegans) (DPY19L2P2), transcript variant 2, non-coding RNA.																		AAATTGCCAGGGAAGCATAAA	0.348000														19			13		0	0	1	0	0
KCNG3	170850	broad.mit.edu	37	2	42671467	42671467	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:42671467G>A	uc002rsn.3	-	1	1514	c.918C>T	c.(916-918)ttC>ttT	p.F306F	KCNG3_uc002rsm.3_Silent_p.F295F	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 3 (KCNG3), transcript variant 1, mRNA.	306						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						GAAGACCAATGAAGTGACGGG	0.453000														12			13		0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	803543	803543	+	Missense_Mutation	SNP	C	T	T	rs147690117		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:803543C>T	uc010krz.1	+	7	1735	c.1715C>T	c.(1714-1716)gCg>gTg	p.A572V	HEATR2_uc003siz.2_Missense_Mutation_p.A440V|HEATR2_uc003sja.3_Missense_Mutation_p.A30V	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	572							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CGGGTGACCGCGTCGCACCTT	0.652000														769			23		0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529600	5529600	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:5529600G>A	uc021qcw.1	-	0	1189	c.1189C>T	c.(1189-1191)Ccc>Tcc	p.P397S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.P397S	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	397										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACTCCTCGGGGAGAGGCTGG	0.572000														75			58		0	0	1	0	0
PARVB	29780	broad.mit.edu	37	22	44489833	44489833	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:44489833G>C	uc003bem.3	+	2	367	c.237G>C	c.(235-237)aaG>aaC	p.K79N	PARVB_uc003ben.3_Missense_Mutation_p.K46N|PARVB_uc010gzn.3_5'UTR|PARVB_uc003beo.3_Missense_Mutation_p.K9N	NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN	Homo sapiens parvin, beta (PARVB), transcript variant 1, mRNA.	46					cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				AAGAAGGCAAGAATGCCATCA	0.562000														45			25		0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14412356	14412356	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:14412356C>T	uc003wwq.3	-	1	779	c.119G>A	c.(118-120)gGa>gAa	p.G40E	SGCZ_uc010lss.3_Missense_Mutation_p.G27E	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	27					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TCCATAAATTCCCACTGGGTA	0.383000														67			49		0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	416919	416919	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:416919G>A	uc001qif.1	-	22	3994	c.3631C>T	c.(3631-3633)Ctt>Ttt	p.L1211F		NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1211					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGAGGGCAAAGGAATTTTACT	0.473000			T	NUP98	AML									30			25		0	0	1	0	0
FUCA1	2517	broad.mit.edu	37	1	24175137	24175137	+	Splice_Site	SNP	A	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:24175137A>C	uc001bie.3	-	6	1243	c.1160_splice	c.e6+1	p.W387_splice		NM_000147	NP_000138	P04066	FUCO_HUMAN	Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA.	387					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		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;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		GACAAGACTCACCATACAGAT	0.502000														5			38		0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6493866	6493866	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:6493866G>A	uc002gde.4	-	16	2884	c.2525C>T	c.(2524-2526)gCc>gTc	p.A842V	KIAA0753_uc010vtd.2_Missense_Mutation_p.A298V|KIAA0753_uc010clo.3_Missense_Mutation_p.A543V|KIAA0753_uc010vte.2_Missense_Mutation_p.A543V	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	842						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GATGTTCACGGCTGGATCCTT	0.413000														22			25		0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46488859	46488859	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:46488859C>T	uc003cpq.3	-	9	1484	c.1243G>A	c.(1243-1245)Gga>Aga	p.G415R	LTF_uc003fzr.3_Missense_Mutation_p.G371R|LTF_uc010hjh.3_Missense_Mutation_p.G413R|LTF_uc003cpr.3_Missense_Mutation_p.G402R	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	415	Transferrin-like 2.			G -> E (in Ref. 4; AAA59511).	cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	ACATATCCTCCATCCAAACTC	0.502000														106			54		0	0	1	0	0
APOC1	341	broad.mit.edu	37	19	45419533	45419533	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:45419533C>T	uc002pac.1	+	3	397	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	APOC1_uc002pad.1_Missense_Mutation_p.R49W|APOC1_uc002pae.1_Missense_Mutation_p.R49W|APOC1_uc002paf.1_Non-coding_Transcript	NM_001645	NP_001636	P02654	APOC1_HUMAN	Homo sapiens apolipoprotein C-I (APOC1), mRNA.	49					cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance	chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle	fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity			cervix(1)|large_intestine(1)|lung(2)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		GGACAAGGCTCGGGAACTCAT	0.577000														33			218		0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92264669	92264669	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:92264669C>T	uc001xzu.4	-	6	903	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	TC2N_uc001xzt.4_Missense_Mutation_p.E238K|TC2N_uc010auc.3_Missense_Mutation_p.E238K|TC2N_uc001xzv.4_Missense_Mutation_p.E238K	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	238						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)		CAGATCTGTTCTACTGAAGAA	0.303000														25			16		0	0	1	0	0
ZHX1	11244	broad.mit.edu	37	8	124267422	124267422	+	Silent	SNP	T	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:124267422T>A	uc003yqe.3	-	2	1375	c.765A>T	c.(763-765)gcA>gcT	p.A255A	C8orf76_uc003yqd.3_Intron|ZHX1_uc003yqf.3_Silent_p.A255A|ZHX1_uc003yqg.3_Intron|ZHX1_uc010mdi.3_Silent_p.A255A|ZHX1_uc022bak.1_Silent_p.A255A	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	Homo sapiens zinc fingers and homeoboxes 1 (ZHX1), transcript variant 2, mRNA.	255					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CAGGAAGAACTGCTGCTGGTG	0.413000														44			35		0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147561	26147561	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:26147561G>A	uc002dof.3	+	1	1755	c.1363G>A	c.(1363-1365)Gat>Aat	p.D455N		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	455					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GGAAGAGGGTGATAAATGAGG	0.468000														16			10		0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101564795	101564795	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:101564795C>T	uc010yvt.1	+	5	659	c.657C>T	c.(655-657)tcC>tcT	p.S219S	NPAS2_uc002tap.1_Silent_p.S154S	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	154					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGACGGATTCCCCCTCCCCAG	0.338000														30			10		0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064399	78064399	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:78064399G>A	uc002ffh.4	+	2	336	c.255G>A	c.(253-255)ttG>ttA	p.L85L	CLEC3A_uc021tlr.1_Silent_p.L33L	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	85	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						CAGAAGGTTTGAAGCATTTCC	0.438000														37			14		0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58490579	58490579	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:58490579C>T	uc002qqw.3	-	6	2087	c.1469G>A	c.(1468-1470)gGg>gAg	p.G490E	ZNF606_uc010yhp.2_Missense_Mutation_p.G400E	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GAAAGATTTCCCACACTCATT	0.368000														28			8		0	0	1	0	0
SFXN4	119559	broad.mit.edu	37	10	120925126	120925126	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:120925126C>T	uc001leb.3	-	0	79	c.34G>A	c.(34-36)Ggg>Agg	p.G12R	SFXN4_uc001lea.3_Non-coding_Transcript	NM_213649	NP_998814	Q6P4A7	SFXN4_HUMAN	Homo sapiens sideroflexin 4 (SFXN4), mRNA.	12					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		AGGAGCCGCCCAGGTTGCGTT	0.706000														2			28		0	0	1	0	0
GML	2765	broad.mit.edu	37	8	143928018	143928018	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:143928018A>T	uc003yxg.3	+	3	479	c.389A>T	c.(388-390)gAg>gTg	p.E130V		NM_002066	NP_002057	Q99445	GML_HUMAN	Homo sapiens glycosylphosphatidylinositol anchored molecule like protein (GML), mRNA.	130	UPAR/Ly6.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|apoptosis|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GTAACTGAGGAGGAGCTTCCA	0.448000														31			13		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220505162	220505162	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:220505162C>T	uc002vmo.4	+	20	3578	c.3369C>T	c.(3367-3369)atC>atT	p.I1123I	SLC4A3_uc002vmp.4_Silent_p.I1096I|SLC4A3_uc010fwm.3_Silent_p.I646I	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	1096	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCTGTCCATCGTCATGGGGG	0.617000														41			21		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559150	129559150	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:129559150G>A	uc009zyl.1	-	8	2898	c.2570C>T	c.(2569-2571)aCa>aTa	p.T857I	TMEM132D_uc001uia.2_Missense_Mutation_p.T395I	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	857						integral to membrane		p.T856T(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGACCTGTCTGTCGTGGTGCC	0.557000														28			12		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21938209	21938209	+	RNA	SNP	C	T	T	rs11248829	by1000genomes	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:21938209C>T	uc010tzj.1	-	0		c.2531G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TGGGAGGTTGCGGAGGCGCct	0.478000														31			4		0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31614327	31614327	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:31614327G>A	uc011kae.2	+	6	659	c.647G>A	c.(646-648)cGa>cAa	p.R216Q	CCDC129_uc011kad.1_Missense_Mutation_p.R200Q|CCDC129_uc003tcj.1_Missense_Mutation_p.R190Q|CCDC129_uc003tci.1_Missense_Mutation_p.R189Q|CCDC129_uc003tck.1_Missense_Mutation_p.R98Q	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	190										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CAAAAGCAGCGAATGGACATT	0.527000														30			13		0	0	1	0	0
GAPDH	2597	broad.mit.edu	37	12	6646283	6646283	+	Missense_Mutation	SNP	G	A	A	rs11549340		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:6646283G>A	uc001qop.1	+	5	446	c.344G>A	c.(343-345)gGa>gAa	p.G115E		NM_002046	NP_002037	P04406	G3P_HUMAN	Homo sapiens glyceraldehyde-3-phosphate dehydrogenase (GAPDH), mRNA.	115	Interaction with WARS.				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	NAD binding|glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	TTGCAGGGGGGAGCCAAAAGG	0.577000														22			13		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52542733	52542733	+	Silent	SNP	G	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:52542733G>T	uc001vfw.2	-	3	1711	c.1554C>A	c.(1552-1554)tcC>tcA	p.S518S	ATP7B_uc001vfy.2_Silent_p.S407S|ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Silent_p.S518S|ATP7B_uc010tgt.1_Silent_p.S518S|ATP7B_uc010tgu.1_Silent_p.S518S|ATP7B_uc010tgv.1_Silent_p.S518S|ATP7B_uc010tgw.1_Intron	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	518	HMA 5.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CAACCAACACGGAGAGAACAC	0.512000									Wilson disease					50			16		5.35267e-07	5.37137e-07	1	1	0
NCKAP5	344148	broad.mit.edu	37	2	133721423	133721423	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:133721423T>G	uc002ttp.3	-	7	823	c.449A>C	c.(448-450)gAg>gCg	p.E150A	NCKAP5_uc002ttq.3_Missense_Mutation_p.E150A|NCKAP5_uc002tts.1_Missense_Mutation_p.E125A	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	150							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						ATGTTTTCTCTCTTCCTCTGA	0.403000														85			44		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12626277	12626277	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:12626277G>A	uc002gno.2	+	4	666	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	MYOCD_uc002gnn.2_Missense_Mutation_p.E123K|MYOCD_uc002gnp.1_Missense_Mutation_p.E27K	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	123					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)		GGAGCTGGTGGAAAAAAACAT	0.473000														61			49		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17109458	17109458	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:17109458C>T	uc011awc.2	+	5	3177	c.3081C>T	c.(3079-3081)ttC>ttT	p.F1027F	PLCL2_uc011awd.2_Silent_p.F909F	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	1035					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CCATGGAATTCCATGAACACT	0.363000														34			26		0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62763521	62763521	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:62763521C>T	uc009yon.3	-	5	986	c.865G>A	c.(865-867)Gga>Aga	p.G289R	SLC22A8_uc001nwn.1_Missense_Mutation_p.G80R|SLC22A8_uc009yom.3_Missense_Mutation_p.G166R|SLC22A8_uc001nwo.3_Missense_Mutation_p.G289R|SLC22A8_uc010rmm.2_Missense_Mutation_p.G198R|SLC22A8_uc001nwp.2_Missense_Mutation_p.G289R	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	289					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						AGCCTTTCTCCCTCTTCCTTC	0.582000														42			30		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28273954	28273954	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:28273954A>T	uc009xky.3	-	3	667	c.569T>A	c.(568-570)aTt>aAt	p.I190N	ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.I190N	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	190							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCACAATGAAATATGTTTTAG	0.393000														3			5		0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74285287	74285287	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:74285287G>A	uc003hgs.4	+	12	1789	c.1716G>A	c.(1714-1716)atG>atA	p.M572I	ALB_uc011cbe.2_Missense_Mutation_p.M251I|ALB_uc003hgw.4_Missense_Mutation_p.M380I|ALB_uc011cbf.2_Missense_Mutation_p.M462I	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	572	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.D573fs*6(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AAGCTGTTATGGATGATTTCG	0.413000														33			16		0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48921420	48921420	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:48921420G>A	uc002rwu.4	-	9	960	c.890C>T	c.(889-891)tCt>tTt	p.S297F	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.	297					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)	AAAGTTTTCAGAAATGGAATG	0.353000														8			6		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834288	125834288	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:125834288C>T	uc001uhe.1	+	1	351	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	TMEM132B_uc021rgl.1_Missense_Mutation_p.P5S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	115						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)		GGACAAATTTCCCTTCAACTG	0.468000														60			44		0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81207778	81207778	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:81207778G>A	uc003hmd.3	+	2	996	c.759G>A	c.(757-759)cgG>cgA	p.R253R	FGF5_uc003hme.3_3'UTR	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	253					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CTGCACCTCGGAAAAATACCA	0.438000														27			21		0	0	1	0	0
MYEOV2	150678	broad.mit.edu	37	2	241069367	241069367	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:241069367G>A	uc002vyu.1	-	3	342	c.342C>T	c.(340-342)gtC>gtT	p.V114V		NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN	Homo sapiens myeloma overexpressed 2 (MYEOV2), transcript variant 1, mRNA.	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		CCTTCCCACGGACCCCGTGCT	0.627000														43			27		0	0	1	0	0
LAT2	7462	broad.mit.edu	37	7	73634321	73634321	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:73634321G>A	uc003uag.3	+	5	760	c.210G>A	c.(208-210)gcG>gcA	p.A70A	LAT2_uc003uah.3_Silent_p.A70A|LAT2_uc003uai.3_Silent_p.A70A|LAT2_uc010lbo.3_Non-coding_Transcript	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN	Homo sapiens linker for activation of T cells family, member 2 (LAT2), transcript variant 1, mRNA.	70					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding	p.A70V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						GACCCCTGGCGGACATGGCAC	0.632000														17			20		0	0	1	0	0
RPS15	6209	broad.mit.edu	37	19	1440453	1440453	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:1440453C>T	uc002lsp.1	+	3	492	c.430C>T	c.(430-432)Ctc>Ttc	p.L144F		NM_001018	NP_001009	P62841	RS15_HUMAN	Homo sapiens ribosomal protein S15 (RPS15), mRNA.	144					endocrine pancreas development|rRNA processing|ribosomal small subunit export from nucleus|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	DNA binding|RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCATCCCTCTCAAGTAATG	0.612000														6			48		0	0	1	0	0
GJA1	2697	broad.mit.edu	37	6	121768321	121768321	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:121768321G>A	uc003pyr.3	+	1	578	c.328G>A	c.(328-330)Gag>Aag	p.E110K	GJA1_uc011ebo.1_Missense_Mutation_p.E11K|GJA1_uc011ebp.1_Intron|GJA1_uc021zel.1_Missense_Mutation_p.E110K	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	110			E -> D (in ODDD).		cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GAACAAGAAAGAGGAAGAACT	0.438000														35			21		0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59147987	59147987	+	Silent	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:59147987A>G	uc009wab.2	-	7	752	c.729T>C	c.(727-729)agT>agC	p.S243S	MYSM1_uc001czc.3_Non-coding_Transcript	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.	243					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					ACAAGAGATCACTGCTAGAAT	0.378000														10			65		0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67261496	67261497	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:67261496_67261497GG>AA	uc001olx.3	-	18	3093_3094	c.2904_2905CC>TT	c.(2902-2907)atccac>atTTac	p.H969Y	PITPNM1_uc001olw.3_Missense_Mutation_p.H251Y|PITPNM1_uc001oly.3_Missense_Mutation_p.H969Y|PITPNM1_uc001olz.3_Missense_Mutation_p.H968Y	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	969					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GTGCCAAAGTGGATCCACTTGC	0.639000														21			16		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47593379	47593379	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:47593379C>T	uc003gxk.1	+	22	4426	c.4262C>T	c.(4261-4263)tCc>tTc	p.S1421F	ATP10D_uc003gxl.1_Missense_Mutation_p.S669F	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	1421					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GCTGGACCCTCCAAAGGTAAA	0.433000														55			36		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127657	152127657	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:152127657C>T	uc001ezs.1	-	2	1983	c.1918G>A	c.(1918-1920)Gac>Aac	p.D640N		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	640	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						TGCTGTGAGTCCCTAGACTGG	0.493000														111			48		0	0	1	0	0
TEF	7008	broad.mit.edu	37	22	41783516	41783516	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:41783516G>A	uc011apa.2	+	1	420	c.334G>A	c.(334-336)Gag>Aag	p.E112K	TEF_uc003azx.3_Missense_Mutation_p.E77K|TEF_uc021wqe.1_Intron|TEF_uc003azy.3_Missense_Mutation_p.E107K	NM_001145398	NP_001138870	Q10587	TEF_HUMAN	Homo sapiens thyrotrophic embryonic factor (TEF), transcript variant 2, mRNA.	107					rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						GTTCCTGCTGGAGAATGGCAT	0.582000														43			45		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54905870	54905870	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:54905870C>T	uc001sgc.4	+	8	1001	c.922C>T	c.(922-924)Ctg>Ttg	p.L308L	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Silent_p.L258L	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	308					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CACCGAGGACCTGTTTAGCAG	0.498000														20			16		0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27840366	27840366	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:27840366G>A	uc022bud.1	+	0	943	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	MAGEB10_uc004dbw.3_Missense_Mutation_p.E315K	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.	315										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						ACAAGATGAGGAAGAGAGAGC	0.488000														2			15		0	0	1	0	0
PBX3	5090	broad.mit.edu	37	9	128692114	128692114	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:128692114C>T	uc004bqb.3	+	3	813	c.697C>T	c.(697-699)Ctt>Ttt	p.L233F	PBX3_uc004bqc.3_Missense_Mutation_p.L52F|PBX3_uc004bqd.3_Missense_Mutation_p.L52F|PBX3_uc011lzw.2_Missense_Mutation_p.L158F|PBX3_uc011lzx.2_Missense_Mutation_p.L144F|PBX3_uc004bqe.3_Missense_Mutation_p.L120F	NM_006195	NP_001128250	P40426	PBX3_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 3 (PBX3), transcript variant 1, mRNA.	233					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						ATCAAGGTTCCTTGATGCCAG	0.403000														9			19		0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43292897	43292897	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:43292897C>T	uc001jaj.3	+	10	2373	c.2015C>T	c.(2014-2016)tCc>tTc	p.S672F		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	672					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAGACCTTTCCAGAAAGGCA	0.493000														16			44		0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207890860	207890860	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:207890860C>T	uc001hga.4	+	10	1587	c.1466C>T	c.(1465-1467)aCt>aTt	p.T489I	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	489	Sushi 8.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CACACAGGAACTCCCCTTGGA	0.428000														65			29		0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110485297	110485297	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:110485297C>T	uc001pkz.1	-	6	903	c.618G>A	c.(616-618)ggG>ggA	p.G206G	ARHGAP20_uc001pky.1_Silent_p.G183G|ARHGAP20_uc009yyb.1_Silent_p.G170G|ARHGAP20_uc001pla.1_Silent_p.G170G	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	206	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		AGGCACAATTCCCAATGTCCT	0.428000														7			18		0	0	1	0	0
SMAD6	4091	broad.mit.edu	37	15	67073433	67073433	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:67073433G>A	uc002aqf.3	+	3	1974	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	SMAD6_uc010bhx.3_Non-coding_Transcript|SMAD6_uc002aqg.3_Missense_Mutation_p.D90N	NM_005585	NP_005576	O43541	SMAD6_HUMAN	Homo sapiens SMAD family member 6 (SMAD6), transcript variant 1, mRNA.	351	MH2.				BMP signaling pathway|immune response|negative regulation of BMP signaling pathway|negative regulation of SMAD protein complex assembly|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	I-SMAD binding|R-SMAD binding|co-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						TGCGGTGTACGACCAGGCCGT	0.682000														4			10		0	0	1	0	0
LONRF2	164832	broad.mit.edu	37	2	100903441	100903441	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:100903441C>T	uc002tal.4	-	10	2645	c.2005G>A	c.(2005-2007)Gat>Aat	p.D669N	LONRF2_uc010yvs.2_Non-coding_Transcript	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.	669	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TTCATGCGATCCTGGAGAGAC	0.468000														23			20		0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31792914	31792914	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:31792914G>A	uc001wrf.4	-	23	3829	c.3644C>T	c.(3643-3645)tCc>tTc	p.S1215F	HEATR5A_uc010ami.3_Missense_Mutation_p.S820F|HEATR5A_uc001wrg.1_Missense_Mutation_p.S804F	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	1209							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AAAAGGATGGGATTTTTCATC	0.418000														32			15		0	0	1	0	0
PPIL4	85313	broad.mit.edu	37	6	149855853	149855853	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:149855853G>A	uc003qmo.2	-	5	619	c.522C>T	c.(520-522)atC>atT	p.I174I	PPIL4_uc003qmp.2_Silent_p.I174I	NM_139126	NP_624311	Q8WUA2	PPIL4_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 4 (PPIL4), mRNA.	174					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)		ATCGATCAGGGATTAATAAAT	0.303000														36			26		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688615	60688615	+	Silent	SNP	G	A	A	rs113369532		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:60688615G>A	uc002sae.1	-	3	1660	c.1432C>T	c.(1432-1434)Ctg>Ttg	p.L478L	BCL11A_uc002sab.3_Silent_p.L478L|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Silent_p.L147L|BCL11A_uc010ypj.2_Silent_p.L444L|BCL11A_uc002sad.1_Silent_p.L326L|BCL11A_uc002saf.1_Silent_p.L444L	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	478					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			tccGGGATCAGGTTGGGGTCG	0.647000			T	IGH@	B-CLL									101			71		0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122033335	122033335	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:122033335G>A	uc022akp.1	-	20	3345	c.2923C>T	c.(2923-2925)Cca>Tca	p.P975S	CADPS2_uc003vkg.4_Intron|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Missense_Mutation_p.P975S	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	975	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GGAACTTTTGGAAGAGCTACA	0.438000														24			23		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475643	140475643	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140475643C>T	uc003lil.3	+	0	1407	c.1269C>T	c.(1267-1269)atC>atT	p.I423I	PCDHB2_uc003lim.1_Silent_p.I84I	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	423	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.T422T(1)		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)			ACATCACCATCACCGTCACCG	0.522000														40			27		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347200	48347200	+	Silent	SNP	C	T	T	rs141730559		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:48347200C>T	uc010rhv.2	+	0	708	c.708C>T	c.(706-708)ttC>ttT	p.F236F		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGTTGAACTTCCTCATGCTGG	0.522000														29			19		0	0	1	0	0
LOC286059	286059	broad.mit.edu	37	8	22938818	22938818	+	RNA	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:22938818C>T	uc003xcw.1	+	2		c.322C>T								Homo sapiens tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain pseudogene (LOC286059), non-coding RNA.																		GGAAATAATTCAGGACCAACT	0.473000														3			6		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668661	176668661	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:176668661G>A	uc001gkz.3	+	7	4336	c.3172G>A	c.(3172-3174)Gat>Aat	p.D1058N	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1058					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						GGTTCTCCGCGATCCCCCATT	0.552000														147			60		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10466767	10466767	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:10466767C>T	uc003wtc.3	-	3	5070	c.4841G>A	c.(4840-4842)cGa>cAa	p.R1614Q		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1614					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)		CGAGAGGTTTCGCAGGCCCCG	0.711000														16			9		0	0	1	0	0
IL2RA	3559	broad.mit.edu	37	10	6066301	6066301	+	Silent	SNP	C	T	T	rs36065822		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:6066301C>T	uc001iiz.2	-	2	492	c.273G>A	c.(271-273)acG>acA	p.T91T	IL2RA_uc009xih.2_Silent_p.T91T|IL2RA_uc001ija.1_Silent_p.T53T	NM_000417	NP_000408	P01589	IL2RA_HUMAN	Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA.	91					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCACTTGTTTCGTTGTGTTCC	0.413000														10			19		0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88381736	88381736	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:88381736C>T	uc001tam.1	-	8	876	c.708G>A	c.(706-708)aaG>aaA	p.K236K	C12orf50_uc001tan.3_Intron	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	236										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						GAGGACTGTCCTTGTTATCTT	0.323000														20			20		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52404140	52404140	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:52404140C>T	uc011bef.2	+	38	6414	c.6153C>T	c.(6151-6153)ttC>ttT	p.F2051F		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2051	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCATCTCCTTCGTTCGGTCCT	0.587000														20			14		0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131306348	131306348	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:131306348C>T	uc011blq.2	-	7	924	c.814G>A	c.(814-816)Gga>Aga	p.G272R	CPNE4_uc003eok.3_Missense_Mutation_p.G254R|CPNE4_uc003eol.3_Missense_Mutation_p.G272R|CPNE4_uc003eom.3_Missense_Mutation_p.G254R	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	254										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TCCATTGCTCCTCTCATCTCC	0.448000														30			20		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42054441	42054441	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:42054441C>T	uc010ucy.2	+	21	7806	c.7625C>T	c.(7624-7626)cCc>cTc	p.P2542L	MGA_uc010ucz.2_Missense_Mutation_p.P2333L|MGA_uc010uda.1_Missense_Mutation_p.P1158L	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2503						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GACATATCTCCCAGAATTAGC	0.393000														33			58		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328149	80328149	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:80328149G>A	uc003hlu.3	-	0	1224	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	402					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						CTCGGGTTTGGAAACAAACAG	0.443000														44			34		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48627094	48627094	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:48627094G>A	uc003ctz.2	-	15	2109	c.2108C>T	c.(2107-2109)aCc>aTc	p.T703I		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	703	Fibronectin type-III 6.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.V702I(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAGGTAATGGTGACAGATGA	0.632000														55			33		0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133769527	133769527	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:133769527C>T	uc003ytn.3	-	2	283	c.54G>A	c.(52-54)ttG>ttA	p.L18L	TMEM71_uc003yto.3_Silent_p.L18L	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	Homo sapiens transmembrane protein 71 (TMEM71), transcript variant 1, mRNA.	18						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)			ATTCTCTTTCCAACCTGGAAG	0.393000														11			4		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79031294	79031294	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:79031294C>T	uc003kgc.3	+	1	6778	c.6706C>T	c.(6706-6708)Cat>Tat	p.H2236Y		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2236						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACCAGCTGATCATTCATTATC	0.378000														74			34		0	0	1	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202911291	202911291	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:202911291G>A	uc001gyq.4	-	6	1128	c.861C>T	c.(859-861)atC>atT	p.I287I	ADIPOR1_uc010pqd.2_Silent_p.I211I|ADIPOR1_uc001gyr.4_Silent_p.I86I|ADIPOR1_uc001gys.4_Silent_p.I287I	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	Homo sapiens adiponectin receptor 1 (ADIPOR1), transcript variant 1, mRNA.	287					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGCCCTCAGCGATAGTAAAGT	0.537000														62			31		0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4843021	4843021	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	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														82			75		0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22816548	22816548	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:22816548G>A	uc001bft.2	+	2	618	c.107G>A	c.(106-108)aGg>aAg	p.R36K	ZBTB40_uc001bfu.2_Missense_Mutation_p.R36K|ZBTB40_uc009vqi.1_Missense_Mutation_p.R36K	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	36	BTB.				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)		ATTTACTTCAGGGCTCACAAG	0.547000														6			57		0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61260157	61260157	+	Missense_Mutation	SNP	G	A	A	rs138290904		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:61260157G>A	uc010xep.2	+	4	619	c.451G>A	c.(451-453)Gat>Aat	p.D151N	SERPINB13_uc002ljc.3_Missense_Mutation_p.D142N|SERPINB13_uc002ljd.3_5'UTR|SERPINB13_uc010xeq.2_Intron|SERPINB13_uc010xer.2_Intron	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	142					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AAATGCAGCCGATGAAAGTCG	0.323000														34			21		0	0	1	0	0
CXXC4	80319	broad.mit.edu	37	4	105411974	105411974	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:105411974C>T	uc003hxg.3	-	0	494	c.479G>A	c.(478-480)cGc>cAc	p.R160H	AK094561_uc003hxh.1_5'Flank|CXXC4_uc010ilo.3_Intron	NM_025212	NP_079488	Q9H2H0	CXXC4_HUMAN	Homo sapiens CXXC finger protein 4 (CXXC4), mRNA.	160					Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	p.R160H(2)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TCCCGTTTTGCGGTTCCTGCA	0.507000														69			4		0	0	1	0	0
TCP11	6954	broad.mit.edu	37	6	35086152	35086152	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:35086152T>C	uc003okd.2	-	9	1626	c.1445A>G	c.(1444-1446)aAc>aGc	p.N482S	TCP11_uc003ojz.1_Missense_Mutation_p.N407S|TCP11_uc003oka.2_Missense_Mutation_p.N407S|TCP11_uc003okb.2_Missense_Mutation_p.N406S|TCP11_uc011dsu.1_Missense_Mutation_p.N464S|TCP11_uc003okc.2_Missense_Mutation_p.N406S|TCP11_uc011dsv.1_Missense_Mutation_p.N431S|TCP11_uc011dsw.1_Missense_Mutation_p.N436S	NM_001093728	NP_001087197	Q8WWU5	TCP11_HUMAN	Homo sapiens t-complex 11 homolog (mouse) (TCP11), transcript variant 1, mRNA.	469					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						ATGTGTCAAGTTGACAAACTT	0.483000														116			53		0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25625517	25625517	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:25625517G>A	uc003abp.1	+	4	469	c.421G>A	c.(421-423)Gtg>Atg	p.V141M		NM_000496	NP_000487	P43320	CRBB2_HUMAN	Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.	141	Beta/gamma crystallin 'Greek key' 3.				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						CCAGGAGAAGGTGTCATCTGT	0.557000														29			12		0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587654	55587654	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:55587654C>T	uc010rin.2	+	0	549	c.549C>T	c.(547-549)tcC>tcT	p.S183S		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F182L(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GTGAGTTCTCCTCACTACTCT	0.423000														56			38		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33559958	33559958	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:33559958C>T	uc001rll.1	-	2	1140	c.843G>A	c.(841-843)aaG>aaA	p.K281K	SYT10_uc009zju.1_Silent_p.K91K	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	281	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)					TCTGAAATTTCTTTTTCCTAT	0.358000														12			14		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19020501	19020501	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:19020501C>T	uc002dfp.2	+	1	205	c.75C>T	c.(73-75)ctC>ctT	p.L25L	TMC7_uc010vao.1_Silent_p.L25L|TMC7_uc002dfq.3_Silent_p.L25L|TMC7_uc010vap.2_5'UTR	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	25						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TAGAGAACCTCTCTCTAGACT	0.468000														74			47		0	0	1	0	0
CRYZ	1429	broad.mit.edu	37	1	75184934	75184934	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:75184934G>A	uc001dgk.3	-	4	892	c.387C>T	c.(385-387)atC>atT	p.I129I	CRYZ_uc001dgj.3_Silent_p.I129I|CRYZ_uc001dgl.3_Silent_p.I129I|CRYZ_uc001dgm.3_Intron	NM_001130042	NP_001880	Q08257	QOR_HUMAN	Homo sapiens crystallin, zeta (quinone reductase) (CRYZ), transcript variant 1, mRNA.	129					protein homotetramerization|visual perception|xenobiotic catabolic process	Golgi apparatus|cytosol	NADPH binding|NADPH:quinone reductase activity|mRNA 3'-UTR binding|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	ATGGAATGCCGATGGCAGCTC	0.443000														6			40		0	0	1	0	0
VWC2L	402117	broad.mit.edu	37	2	215279114	215279114	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:215279114G>A	uc002vet.2	+	1	327	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	VWC2L_uc010zjl.1_Missense_Mutation_p.R66Q	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	66	VWFC 1.					extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TTGGGAGAACGATTTTTCCCT	0.458000														20			6		0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158456922	158456922	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:158456922G>A	uc011kwe.1	-	14	1914	c.1769C>T	c.(1768-1770)cCa>cTa	p.P590L	NCAPG2_uc010lqu.1_Missense_Mutation_p.P382L|NCAPG2_uc003wnx.1_Missense_Mutation_p.P590L|NCAPG2_uc003wnv.1_Missense_Mutation_p.P590L|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc011kwc.1_Missense_Mutation_p.P91L|NCAPG2_uc011kwd.1_Missense_Mutation_p.P91L	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	590					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CTCGTCCTCTGGAGGCTCTCT	0.493000														48			43		0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25959148	25959148	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:25959148G>T	uc010ayu.3	-	9	2123	c.2017C>A	c.(2017-2019)Cag>Aag	p.Q673K		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	673					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTGTCCGCCTGGCTGCTGTAG	0.682000														43			20		1.56452e-12	1.5766e-12	1	1	0
WSCD2	9671	broad.mit.edu	37	12	108600113	108600113	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:108600113C>T	uc001tms.3	+	2	1174	c.430C>T	c.(430-432)Cga>Tga	p.R144*	WSCD2_uc001tmt.3_Nonsense_Mutation_p.R144*	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	144	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TCGGGCCCTTCGAGGAGTGTC	0.522000														42			24		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86524851	86524851	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:86524851G>A	uc001dlj.3	-	8	1834	c.1759C>T	c.(1759-1761)Cca>Tca	p.P587S	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.P587S	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	587	Collagen-like 2.				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)		GCAAATCCTGGAATTCCCTGA	0.338000														12			8		0	0	1	0	0
F2R	2149	broad.mit.edu	37	5	76028361	76028361	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:76028361T>A	uc003ken.4	+	1	576	c.311T>A	c.(310-312)tTt>tAt	p.F104Y		NM_001992	NP_001983	P25116	PAR1_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor (F2R), mRNA.	104					STAT protein import into nucleus|activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|tyrosine phosphorylation of STAT protein	Golgi apparatus|caveola|extracellular region|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	CTGACACTCTTTGTCCCATCT	0.468000														71			35		0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79614108	79614108	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:79614108G>A	uc001jzk.3	-	3	627	c.557C>T	c.(556-558)cCt>cTt	p.P186L	DLG5_uc001jzj.3_5'Flank|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	186					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTCATAGTCAGGATTCAGCCT	0.592000														6			18		0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37720489	37720489	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:37720489A>G	uc003xkm.2	-	5	3832	c.3776T>C	c.(3775-3777)cTt>cCt	p.L1259P	RAB11FIP1_uc003xkn.2_Missense_Mutation_p.L625P|RAB11FIP1_uc003xkl.2_Missense_Mutation_p.L588P	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	1259	FIP-RBD.|Necessary for interaction with RAB4A and RAB11A, subcellular location and endosomal recycling.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GACCCTGACAAGCAGGTTGTC	0.483000														73			51		0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770312	31770312	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:31770312G>A	uc002nsy.4	-	1	452	c.387C>T	c.(385-387)tcC>tcT	p.S129S		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	129					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGGACCAGTAGGAGTTGGAGA	0.582000														57			14		0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109507818	109507818	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:109507818G>A	uc010agk.2	+	10	1898	c.1276G>A	c.(1276-1278)Gat>Aat	p.D426N	MYO16_uc001vqt.1_Missense_Mutation_p.D404N|MYO16_uc001vqu.1_Missense_Mutation_p.D204N	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	404	Myosin head-like 1.				cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGCCCCAAACGATGACCTGGC	0.473000														18			27		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146741005	146741005	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:146741005C>T	uc003weu.2	+	3	925	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	137	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.P137S(2)		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)			CCAGGCATTTCCCGGAAACAT	0.408000										HNSCC(39;0.1)				34			24		0	0	1	0	0
CSRNP1	64651	broad.mit.edu	37	3	39184611	39184611	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:39184611G>A	uc003cjg.3	-	4	1919	c.1705C>T	c.(1705-1707)Ccc>Tcc	p.P569S	CSRNP1_uc003cjh.3_Missense_Mutation_p.P569S	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA.	569					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						TCAATAAAGGGATCTAGGGCT	0.592000														49			34		0	0	1	0	0
ZBTB25	7597	broad.mit.edu	37	14	64954344	64954344	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:64954344G>A	uc001xhf.3	-	2	788	c.605C>T	c.(604-606)tCc>tTc	p.S202F	ZBTB25_uc001xhc.3_Intron|ZBTB25_uc001xhg.3_Missense_Mutation_p.S202F	NM_006977	NP_008908	P24278	ZBT25_HUMAN	Homo sapiens zinc finger and BTB domain containing 25 (ZBTB25), mRNA.	202						cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		CTGCTTGATGGAAACTGGGGG	0.567000														106			65		0	0	1	0	0
IFI44L	10964	broad.mit.edu	37	1	79093950	79093950	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:79093950C>T	uc010oro.2	+	1	529	c.350C>T	c.(349-351)tCg>tTg	p.S117L	IFI44L_uc010orp.2_Intron|IFI44L_uc010orq.2_Intron	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	Homo sapiens interferon-induced protein 44-like (IFI44L), mRNA.	117						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						TGTCGTTTATCGAAAACGGAT	0.303000														3			16		0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190358	58190358	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:58190358T>C	uc010rkg.2	-	0	429	c.377A>G	c.(376-378)aAa>aGa	p.K126R		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C125C(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTGTAGGGGTTTGCACACTGC	0.512000														36			18		0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243328064	243328064	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:243328064G>A	uc021plo.1	-	12	3606	c.3198C>T	c.(3196-3198)tcC>tcT	p.S1066S	CEP170_uc021plp.1_Silent_p.S968S|CEP170_uc021plq.1_Silent_p.S968S|CEP170_uc001hzv.1_Silent_p.S444S	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	1066	Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CTTCCAGTTTGGAATGTACAT	0.433000														48			4		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228109668	228109668	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:228109668G>A	uc002vom.2	+	5	442	c.280_splice	c.e5-1	p.G94_splice	BC035052_uc002voq.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	94	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)		TGTCTTCAGGGAATAAGTGGA	0.313000														56			48		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179435844	179435844	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:179435844G>A	uc021vsy.1	-	274	67536	c.67311C>T	c.(67309-67311)gaC>gaT	p.D22437D	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.D16132D|TTN_uc021vta.1_Silent_p.D16065D|TTN_uc021vtb.1_Silent_p.D15940D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23364	Ig-like 116.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATCACATGGGTCACGAGCCA	0.473000														71			52		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76873905	76873905	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:76873905G>A	uc001oyb.2	+	13	1833	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N	MYO7A_uc010rsl.2_Missense_Mutation_p.D521N|MYO7A_uc010rsm.1_Missense_Mutation_p.D510N|MYO7A_uc001oyc.2_Missense_Mutation_p.D521N	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	521	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCAGGGCACAGACACCACCAT	0.582000														45			45		0	0	1	0	0
GPBP1	65056	broad.mit.edu	37	5	56526749	56526749	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:56526749A>T	uc003jrk.4	+	2	218	c.161A>T	c.(160-162)cAc>cTc	p.H54L	GPBP1_uc003jrh.4_Missense_Mutation_p.H47L|GPBP1_uc003jri.4_5'UTR|GPBP1_uc003jrj.4_Missense_Mutation_p.H54L|GPBP1_uc021xyv.1_5'UTR	NM_001127236	NP_001190175	Q86WP2	GPBP1_HUMAN	Homo sapiens GC-rich promoter binding protein 1 (GPBP1), transcript variant 2, mRNA.	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		CGTCGACGACACAACTCTTCA	0.348000														44			37		0	0	1	0	0
C10orf118	55088	broad.mit.edu	37	10	115922811	115922811	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:115922811G>A	uc001lbb.1	-	1	869	c.217C>T	c.(217-219)Cat>Tat	p.H73Y	C10orf118_uc009xye.1_Non-coding_Transcript|C10orf118_uc001lbc.1_Missense_Mutation_p.H73Y|C10orf118_uc001lbd.3_Missense_Mutation_p.H73Y|C10orf118_uc001lbe.3_Missense_Mutation_p.H73Y	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	Homo sapiens chromosome 10 open reading frame 118 (C10orf118), mRNA.	73										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)		CCTCCACCATGATCTGGAATA	0.338000														5			31		0	0	1	0	0
LAP3	51056	broad.mit.edu	37	4	17609198	17609198	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:17609198C>T	uc003gph.1	+	12	1708	c.1546C>T	c.(1546-1548)Caa>Taa	p.Q516*		NM_015907	NP_056991	P28838	AMPL_HUMAN	Homo sapiens leucine aminopeptidase 3 (LAP3), mRNA.	516					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						TCGTTTCAGTCAAGACAATGC	0.388000														24			20		0	0	1	0	0
PRR14L	253143	broad.mit.edu	37	22	32108232	32108232	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:32108232A>C	uc003alp.4	-	3	5786	c.5593T>G	c.(5593-5595)Tct>Gct	p.S1865A	PRR14L_uc003alo.2_Missense_Mutation_p.S1664A|PRR14L_uc010gwj.1_Missense_Mutation_p.S1664A	NM_173566	NP_775837	Q5THK1	PR14L_HUMAN	Homo sapiens proline rich 14-like (PRR14L), mRNA.	1865										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GAGGCTGGAGACCGTAACCCT	0.527000														67			40		0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158226687	158226687	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:158226687G>A	uc001frt.3	+	3	1249	c.716G>A	c.(715-717)cGg>cAg	p.R239Q	CD1A_uc021pbk.1_Non-coding_Transcript	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	239	Ig-like.				antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ATGTGGATGCGGGGTGAGCAG	0.642000														77			24		0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40360360	40360360	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:40360360G>A	uc003oph.1	-	2	2157	c.1692C>T	c.(1690-1692)gcC>gcT	p.A564A		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	564						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)					TCTTGCTGGGGGCCTCGTGGT	0.667000														34			16		0	0	1	0	0
RNF25	64320	broad.mit.edu	37	2	219528925	219528925	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:219528925G>A	uc002vit.3	-	9	1223	c.1135C>T	c.(1135-1137)Ctc>Ttc	p.L379F	RNF25_uc010fvw.3_Missense_Mutation_p.L267F	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	Homo sapiens ring finger protein 25 (RNF25), mRNA.	379					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTCCTTGAGGGGCCCCTCA	0.657000														105			60		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1647274	1647276	+	Missense_Mutation	DNP	AC	CT	CT			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:1647274_1647276AC>CT	uc002qxa.3	-	18	3880_3882	c.3816_3818GT>AG	c.(3814-3819)aggatc>agAGc	p.I1273del		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	1273					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)		GTCGCATAGGATCCTGGCCAGCG	0.606000														29			4		0	0	1	0	0
SERTAD4	56256	broad.mit.edu	37	1	210414989	210414989	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:210414989C>T	uc001hhy.3	+	3	557	c.378C>T	c.(376-378)ctC>ctT	p.L126L	SERTAD4_uc009xcw.3_Silent_p.L126L	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA.	126	SERTA.						protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		AAGTGTACCTCCGAAGATCTG	0.393000														64			30		0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3002495	3002495	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:3002495G>A	uc022brz.1	+	5	754	c.618G>A	c.(616-618)ggG>ggA	p.G206G	ARSF_uc004cre.2_Silent_p.G206G|ARSF_uc004crf.2_Silent_p.G206G	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	206						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TAACCTTTGGGAAGCTGAGCG	0.547000														10			38		0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	107822868	107822868	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:107822868C>T	uc001vql.3	-	2	1870	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	452						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						GTTGAGTTTTCTTCCAGCGTG	0.517000														22			38		0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764314	138764314	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:138764314G>A	uc003vun.3	-	3	1761	c.1373C>T	c.(1372-1374)tCa>tTa	p.S458L	ZC3HAV1_uc003vuo.3_5'Flank|ZC3HAV1_uc003vup.3_Missense_Mutation_p.S458L	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	458					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CCTAGGTGATGATATTTCTCT	0.463000														44			25		0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890954	23890954	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:23890954C>T	uc001ywj.4	-	0	2040	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AAGGGCTGCTCCAGCTGGACC	0.701000														9			4		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75265550	75265550	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:75265550C>T	uc001xqj.4	+	4	3674	c.3550C>T	c.(3550-3552)Cac>Tac	p.H1184Y	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	989	Arg-rich.				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)		GTATCCATATCACCGGGATGA	0.493000														29			18		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13727622	13727622	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:13727622G>A	uc003jfd.2	-	69	12069	c.12027C>T	c.(12025-12027)atC>atT	p.I4009I	DNAH5_uc003jfc.2_Silent_p.I177I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4009					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)					TTACCTGGGCGATGGTTCTGT	0.338000									Kartagener syndrome					19			15		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408168	10408168	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:10408168G>A	uc002gmo.3	-	21	2744	c.2650C>T	c.(2650-2652)Ctg>Ttg	p.L884L	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	884						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						TCTTGCATCAGAGTAACCATT	0.428000														39			23		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173934	51173934	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:51173934G>A	uc021tif.1	-	1	2230	c.1908C>T	c.(1906-1908)ccC>ccT	p.P636P	SALL1_uc021tid.1_Silent_p.P636P|SALL1_uc021tie.1_Silent_p.P733P|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	733					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)			TACACTTAAAGGGCCTCTCCC	0.542000														31			28		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127941	152127941	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:152127941G>A	uc001ezs.1	-	2	1699	c.1634C>T	c.(1633-1635)tCc>tTc	p.S545F		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	545	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						ACCATAGTGGGAACTCTGGCC	0.527000														333			468		0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43527779	43527779	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:43527779G>A	uc001zrd.2	-	9	1610	c.1602C>T	c.(1600-1602)tcC>tcT	p.S534S	TGM5_uc001zrc.2_Silent_p.S191S|TGM5_uc001zre.2_Silent_p.S452S	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	534					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CCTTGAACTGGGAGGACATGT	0.562000														57			21		0	0	1	0	0
PYCR1	5831	broad.mit.edu	37	17	79892830	79892830	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:79892830G>A	uc002kct.1	-	4	594	c.512C>T	c.(511-513)aCg>aTg	p.T171M	PYCR1_uc002kcp.3_Missense_Mutation_p.T171M|PYCR1_uc002kcr.1_Missense_Mutation_p.T171M|PYCR1_uc010wvd.1_Missense_Mutation_p.T198M|PYCR1_uc002kcu.1_Missense_Mutation_p.T171M|PYCR1_uc010wve.1_Missense_Mutation_p.T123M	NM_006907	NP_008838	P32322	P5CR1_HUMAN	Homo sapiens pyrroline-5-carboxylate reductase 1 (PYCR1), transcript variant 1, mRNA.	171					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)	ACTGAGCCCCGTGACGGCATC	0.697000														19			12		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81627211	81627211	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:81627211T>G	uc001szl.1	+	12	1771	c.1680T>G	c.(1678-1680)aaT>aaG	p.N560K	ACSS3_uc001szm.1_Missense_Mutation_p.N559K|ACSS3_uc001szn.1_Missense_Mutation_p.N242K	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	560						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ATGTAATAAATGTTGCAGGTC	0.388000														52			40		0	0	1	0	0
STOML3	161003	broad.mit.edu	37	13	39540966	39540966	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:39540966G>A	uc001uwx.3	-	6	1010	c.872C>T	c.(871-873)gCc>gTc	p.A291V	STOML3_uc010tez.2_Missense_Mutation_p.A282V	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA.	291						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		AGGACCTCAGGCTTTATTTGG	0.448000														33			52		0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9786133	9786134	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:9786133_9786134CC>TT	uc003bse.3	+	8	3242_3243	c.2843_2844CC>TT	c.(2842-2844)ccc>cTT	p.P948L	BRPF1_uc003bsf.3_Missense_Mutation_p.P954L|BRPF1_uc003bsg.3_Missense_Mutation_p.P947L|BRPF1_uc011ati.2_Intron	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	948	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GGTAGGAGCCCCCGGCCCAGTT	0.644000														9			12		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540300	28540300	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:28540300C>T	uc003nlo.3	-	3	3984	c.3366G>A	c.(3364-3366)aaG>aaA	p.K1122K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1122					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						aagttgcattcttcccttgca	0.333000														71			21		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128540177	128540177	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:128540177G>A	uc003qbk.3	-	5	1125	c.758C>T	c.(757-759)gCt>gTt	p.A253V	PTPRK_uc010kfc.3_Missense_Mutation_p.A253V|PTPRK_uc003qbj.3_Missense_Mutation_p.A253V|PTPRK_uc011ebu.2_Missense_Mutation_p.A253V|PTPRK_uc003qbl.1_Missense_Mutation_p.A123V|PTPRK_uc011ebv.1_Missense_Mutation_p.A253V	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	253	Ig-like C2-type.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.A253T(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCTGAAGGAAGCGGCAAACCT	0.413000														37			27		0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7335157	7335157	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:7335157C>T	uc001mfe.3	+	2	1266	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	343						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GGAAGGATATCGAATATGTCA	0.453000														69			38		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121100379	121100379	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:121100379G>A	uc003eec.4	+	23	2799	c.2659_splice	c.e23+1	p.G887_splice	STXBP5L_uc011bji.2_Splice_Site_p.G863_splice	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	887					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)		ATTGCCAAGTGGTAAGAGTTT	0.343000														41			39		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626760	140626760	+	Silent	SNP	C	T	T	rs17844628		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140626760C>T	uc003lje.3	+	0	1614	c.1614C>T	c.(1612-1614)ttC>ttT	p.F538F		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	538	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCGCGGCTTCCCGGCGCTGA	0.672000														32			32		0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5730793	5730793	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:5730793G>A	uc001mbr.3	+	7	1791	c.1412G>A	c.(1411-1413)gGa>gAa	p.G471E	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|TRIM22_uc010qzm.2_Missense_Mutation_p.G299E|TRIM22_uc009yes.3_Missense_Mutation_p.G467E|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	471	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		AAGTTCTCTGGATGTCGCTTT	0.488000														89			70		0	0	1	0	0
C17orf80	55028	broad.mit.edu	37	17	71232316	71232316	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:71232316C>T	uc002jjm.4	+	2	889	c.695C>T	c.(694-696)cCa>cTa	p.P232L	C17orf80_uc010wqu.1_Missense_Mutation_p.P232L|C17orf80_uc010dfj.3_Missense_Mutation_p.P232L|C17orf80_uc002jjk.1_Missense_Mutation_p.P232L|C17orf80_uc002jjl.4_Missense_Mutation_p.P232L	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	Homo sapiens chromosome 17 open reading frame 80 (C17orf80), transcript variant 1, mRNA.	232						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			CATATTTCTCCAAAGAATGTC	0.403000														42			19		0	0	1	0	0
CLVS2	134829	broad.mit.edu	37	6	123369871	123369871	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:123369871G>A	uc003pzi.1	+	3	1538	c.669G>A	c.(667-669)cgG>cgA	p.R223R		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	223	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AGAAAACTCGGAAAAGGGTAT	0.378000														61			39		0	0	1	0	0
GRPR	2925	broad.mit.edu	37	X	16170504	16170504	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:16170504C>T	uc004cxj.3	+	2	1544	c.891C>T	c.(889-891)tcC>tcT	p.S297S		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	297					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TGGACACCTCCATGCTCCACT	0.567000														19			86		0	0	1	0	0
KATNB1	10300	broad.mit.edu	37	16	57785890	57785890	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:57785890C>T	uc002eml.1	+	7	929	c.555C>T	c.(553-555)ttC>ttT	p.F185F		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	Homo sapiens katanin p80 (WD repeat containing) subunit B 1 (KATNB1), mRNA.	185	Interaction with centrosomes.|Interaction with dynein (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)				TGTCTGAGTTCCCTGGTCACA	0.637000														16			9		0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233272986	233272986	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:233272986G>A	uc002vss.4	+	5	711	c.658G>A	c.(658-660)Ggt>Agt	p.G220S		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	220					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GGTGATCCTAGGTGGAGGCCG	0.622000														59			33		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162307269	162307269	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:162307269C>T	uc003iqh.3	-	15	2610	c.2174G>A	c.(2173-2175)gGa>gAa	p.G725E	FSTL5_uc003iqi.3_Missense_Mutation_p.G724E|FSTL5_uc010iqv.3_Missense_Mutation_p.G715E	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	725						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTGTATTTCTCCTCTGATGGT	0.423000														27			32		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122853716	122853716	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:122853716C>T	uc003ieg.2	-	1	771	c.697G>A	c.(697-699)Gac>Aac	p.D233N	TRPC3_uc010inr.2_Missense_Mutation_p.D160N|TRPC3_uc003ief.2_Missense_Mutation_p.D160N|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	148					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGGGTGATGTCCGGCGAGAAG	0.617000														27			24		0	0	1	0	0
CENPP	401541	broad.mit.edu	37	9	95094460	95094460	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:95094460T>C	uc004arz.3	+	1	656	c.116T>C	c.(115-117)tTt>tCt	p.F39S	CENPP_uc010mqx.3_Intron	NM_001012267	NP_001012267	Q6IPU0	CENPP_HUMAN	Homo sapiens centromere protein P (CENPP), mRNA.	39					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						AGAAAATCTTTTCAAGCCATA	0.333000														1			7		0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119431	3119431	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:3119431G>A	uc010vrc.2	+	0	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TGGCAACCAGGAAGTGGCCAA	0.488000														69			30		0	0	1	0	0
ZNF619	285267	broad.mit.edu	37	3	40529675	40529675	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:40529675C>T	uc011azb.2	+	5	2101	c.1794C>T	c.(1792-1794)ctC>ctT	p.L598L	ZNF619_uc011aza.2_Silent_p.L500L|ZNF619_uc011azc.2_Silent_p.L558L|ZNF619_uc011azd.2_Silent_p.L514L|ZNF619_uc003ckj.3_Silent_p.L542L|ZNF619_uc021wwh.1_Silent_p.L549L	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	Homo sapiens zinc finger protein 619 (ZNF619), transcript variant 1, mRNA.	598					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TTCAGGATCTCGCTTTTCCTG	0.498000														55			38		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144946560	144946560	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:144946560C>T	uc003zaa.1	-	0	875	c.862G>A	c.(862-864)Gcc>Acc	p.A288T		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	288						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)			ACAACCCCGGCCACGCTGCCG	0.687000														28			18		0	0	1	0	0
KCNA2	3737	broad.mit.edu	37	1	111145957	111145957	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:111145957G>A	uc021oro.1	-	0	1448	c.1448C>T	c.(1447-1449)aCc>aTc	p.T483I	KCNA2_uc009wfv.2_Intron|KCNA2_uc009wfw.3_Missense_Mutation_p.T483I	NM_004974	NP_004965	P16389	KCNA2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), transcript variant 1, mRNA.	483						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		GTTAGCCAAGGTACAGTTGGC	0.383000														11			54		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7063707	7063707	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:7063707C>T	uc001mfb.1	+	3	773	c.450C>T	c.(448-450)ttC>ttT	p.F150F		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	150					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)		CTGAAGATTTCCATCATGGAA	0.418000														30			27		0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74719425	74719425	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:74719425G>A	uc002fdb.2	-	4	1220	c.779C>T	c.(778-780)cCc>cTc	p.P260L	MLKL_uc002fdc.2_Intron	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	260	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CAGGATGTTGGGAGATTCGAA	0.403000														18			10		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70935003	70935003	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:70935003C>T	uc002ezr.3	-	52	9100	c.8949G>A	c.(8947-8949)ctG>ctA	p.L2983L		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2984										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)				TCCCCTGCATCAGGGATACAG	0.567000														88			19		0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105446646	105446646	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:105446646A>G	uc001tlc.3	-	10	1478	c.1351T>C	c.(1351-1353)Ttc>Ctc	p.F451L	ALDH1L2_uc009zuo.3_5'UTR|ALDH1L2_uc009zup.3_Non-coding_Transcript	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	451	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GCATCTGTGAACTGTCCATTT	0.378000											OREG0022073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			19		0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186460032	186460032	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:186460032G>A	uc011bsa.2	+	9	2081	c.1847G>A	c.(1846-1848)gGa>gAa	p.G616E	KNG1_uc003fqr.3_Intron|KNG1_uc021xil.1_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	616					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)	AAATGTCCTGGACGCCCCTGG	0.408000														56			41		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32025933	32025933	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:32025933G>A	uc003nzl.2	-	21	7929	c.7727C>T	c.(7726-7728)aCt>aTt	p.T2576I		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2636					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						GCCCCTCACAGTGACCTTGCT	0.692000														297			106		0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	105970251	105970251	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:105970251C>T	uc004eml.3	+	0	358	c.108C>T	c.(106-108)tcC>tcT	p.S36S	RNF128_uc004emk.3_Intron	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	36						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CACCCGGTTCCCGGGGGGCTG	0.697000														3			4		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128505847	128505847	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:128505847G>A	uc003qbk.3	-	6	1259	c.892C>T	c.(892-894)Cct>Tct	p.P298S	PTPRK_uc010kfc.3_Missense_Mutation_p.P298S|PTPRK_uc003qbj.3_Missense_Mutation_p.P298S|PTPRK_uc011ebu.2_Missense_Mutation_p.P298S|PTPRK_uc003qbl.1_Missense_Mutation_p.P168S|PTPRK_uc011ebv.1_Missense_Mutation_p.P298S	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	298	Fibronectin type-III 1.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AGAAGCTGAGGAGGAGCAATG	0.413000														41			25		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499664	104499664	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:104499664G>A	uc004bbp.2	-	0	1199	c.598C>T	c.(598-600)Ccc>Tcc	p.P200S	GRIN3A_uc004bbq.1_Missense_Mutation_p.P200S	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	200					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding	p.P200P(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TGGCTCTGGGGGAAGGCGAGC	0.592000														5			13		0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	137026271	137026271	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:137026271C>T	uc003qhc.3	-	3	950	c.589_splice	c.e3-1	p.E197_splice	MAP3K5_uc011edk.1_Splice_Site_p.E42_splice|MAP3K5_uc010kgw.1_Splice_Site_p.E197_splice	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	197					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CAAATTATTTCCTGAAAAACA	0.234000														9			9		0	0	1	0	0
HSD17B13	345275	broad.mit.edu	37	4	88243985	88243985	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:88243985G>A	uc003hqo.2	-	0	72	c.9C>T	c.(7-9)atC>atT	p.I3I	HSD17B13_uc010ikk.2_Silent_p.I3I	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 13 (HSD17B13), transcript variant A, mRNA.	3						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TTTCTAGGATGATGTTCATGG	0.488000														13			8		0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5247894	5247894	+	Silent	SNP	C	T	T	rs35452098		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:5247894C>T	uc001mae.1	-	1	278	c.228G>A	c.(226-228)ctG>ctA	p.L76L	CoTC_ribozyme_uc021qcu.1_5'Flank	NM_000518	NP_000509	P68871	HBB_HUMAN	Homo sapiens hemoglobin, beta (HBB), mRNA.	76			L -> P (in Atlanta; unstable).|L -> R (in Pasadena; O(2) affinity up; 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	p.G75C(1)		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)	CCAGGTGAGCCAGGCCATCAC	0.542000									Sickle Cell Trait					39			42		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	330160	330160	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:330160G>A	uc001qic.2	-	14	1853	c.1763C>T	c.(1762-1764)cCc>cTc	p.P588L	SLC6A13_uc009zdj.2_Missense_Mutation_p.P578L|SLC6A13_uc010sdl.2_Missense_Mutation_p.P496L	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	588					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)			TGAGGTCCTGGGGGTGGCGGG	0.657000														20			11		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34164509	34164509	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:34164509G>A	uc001bxm.1	-	23	3946	c.3769C>T	c.(3769-3771)Ccc>Tcc	p.P1257S	CSMD2_uc001bxn.1_Missense_Mutation_p.P1217S|CSMD2_uc001bxo.1_Missense_Mutation_p.P130S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1217	Sushi 7.					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)				CCAAACTTGGGGGTTCCTGGG	0.512000														30			23		0	0	1	0	0
ZBP1	81030	broad.mit.edu	37	20	56191374	56191374	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:56191374G>A	uc002xyo.3	-	1	466	c.185C>T	c.(184-186)tCc>tTc	p.S62F	ZBP1_uc010gjm.3_Missense_Mutation_p.S62F|ZBP1_uc002xyp.3_Intron|ZBP1_uc010zzn.2_Missense_Mutation_p.S62F	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	62						cytoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GGTGGCAGGGGATGTGAGGGA	0.597000														47			22		0	0	1	0	0
CORO1C	23603	broad.mit.edu	37	12	109046160	109046160	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:109046160C>T	uc009zva.3	-	7	1097	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N	CORO1C_uc001tnj.3_Missense_Mutation_p.D297N|CORO1C_uc010sxf.2_Missense_Mutation_p.D260N	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	Homo sapiens coronin, actin binding protein, 1C (CORO1C), transcript variant 1, mRNA.	297					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GGGGATTCATCCGTGATCTCA	0.468000														43			51		0	0	1	0	0
KPNA3	3839	broad.mit.edu	37	13	50296138	50296138	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:50296138G>A	uc001vdj.2	-	8	1094	c.679C>T	c.(679-681)Ctc>Ttc	p.L227F		NM_002267	NP_002258	O00505	IMA3_HUMAN	Homo sapiens karyopherin alpha 3 (importin alpha 4) (KPNA3), mRNA.	227	NLS binding site (major) (By similarity).				NLS-bearing substrate import into nucleus|interspecies interaction between organisms|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		TTCCTGCAGAGATTGACAATG	0.458000														87			31		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105010432	105010432	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:105010432C>T	uc003yls.3	+	15	2639	c.2398C>T	c.(2398-2400)Cgc>Tgc	p.R800C	RIMS2_uc003ylp.3_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.R814C|RIMS2_uc003ylq.3_Missense_Mutation_p.R814C|RIMS2_uc003ylr.3_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1084					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)			TACTCTACCTCGCTCCAGATA	0.353000										HNSCC(12;0.0054)				35			18		0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47866189	47866189	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:47866189C>T	uc002xui.3	-	13	3619	c.3372G>A	c.(3370-3372)gaG>gaA	p.E1124E		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	1124							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGCTTTTGCCCTCTTGGATTT	0.468000														45			33		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120584968	120584968	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:120584968G>A	uc001txo.3	-	37	4848	c.4835C>T	c.(4834-4836)tCc>tTc	p.S1612F		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1612					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)					GAGGGCCAGGGATGGGGCATC	0.577000														31			16		0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58202061	58202061	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:58202061A>C	uc001sqj.2	-	9	1139	c.1110T>G	c.(1108-1110)gaT>gaG	p.D370E	AVIL_uc009zqe.2_Missense_Mutation_p.D363E|AVIL_uc001sqk.1_5'UTR|AVIL_uc001sql.4_Missense_Mutation_p.D347E|JA611266_uc021qzr.1_5'Flank	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	370	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CATCAAATTTATCCTGGAAAA	0.458000														133			8		0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20527471	20527471	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:20527471G>A	uc002wrz.3	-	23	3305	c.3162C>T	c.(3160-3162)atC>atT	p.I1054I	RALGAPA2_uc002wry.3_Silent_p.I669I|RALGAPA2_uc010zsg.2_Silent_p.I502I	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1054					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						TCGTATTTAAGATATCCTAAA	0.428000														14			12		0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55020174	55020174	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:55020174C>T	uc002lgn.3	+	0	454	c.97C>T	c.(97-99)Ctg>Ttg	p.L33L		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	33					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CTACGTGTCCCTGAAAAAGGA	0.597000														26			32		0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18234186	18234186	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:18234186C>T	uc001rdq.3	-	5	751	c.557G>A	c.(556-558)gGa>gAa	p.G186E		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	186	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TGATTTAGATCCACTGGGACG	0.383000														16			14		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9927992	9927992	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:9927992C>T	uc010uym.2	-	8	2057	c.1747G>A	c.(1747-1749)Gga>Aga	p.G583R	GRIN2A_uc002czo.4_Missense_Mutation_p.G583R|GRIN2A_uc010uyn.2_Missense_Mutation_p.G426R|GRIN2A_uc002czr.4_Missense_Mutation_p.G583R	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	583					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)	CTGTTGTATCCAACAGGGCTG	0.398000														61			46		0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124252337	124252337	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:124252337C>T	uc010sai.2	-	0	903	c.903G>A	c.(901-903)agG>agA	p.R301R		NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TCAGAGCTTTCCTCAGTGCAA	0.348000														3			22		0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53451406	53451406	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:53451406C>T	uc001sbp.3	+	11	1036	c.901C>T	c.(901-903)Cct>Tct	p.P301S	TENC1_uc001sbl.3_Missense_Mutation_p.P177S|TENC1_uc001sbn.3_Missense_Mutation_p.P311S|TENC1_uc001sbo.1_Missense_Mutation_p.P301S|TENC1_uc001sbq.3_5'Flank|TENC1_uc001sbr.3_5'Flank|TENC1_uc009zmr.3_5'Flank	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	301	C2 tensin-type.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GAACAGCAGCCCTCTCTTCCT	0.532000														92			72		0	0	1	0	0
SATL1	340562	broad.mit.edu	37	X	84362528	84362528	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:84362528C>T	uc004een.3	-	0	1447	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	296	N-acetyltransferase.						N-acetyltransferase activity	p.E483K(2)|p.E483D(1)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GGCCCCGGTTCCCATATGCCT	0.572000														12			35		0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158324383	158324383	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:158324383A>G	uc001fse.3	+	1	568	c.275A>G	c.(274-276)aAc>aGc	p.N92S	CD1E_uc010pid.2_Missense_Mutation_p.N90S|CD1E_uc010pie.2_Intron|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.N92S|CD1E_uc001fsf.3_Missense_Mutation_p.N92S|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Intron|CD1E_uc001fsj.3_Missense_Mutation_p.N92S|CD1E_uc001fsk.3_Missense_Mutation_p.N92S|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.N92S|CD1E_uc001frz.3_Missense_Mutation_p.N92S|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	92					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GAGCTGAAAAACTTACAGTCA	0.478000														37			17		0	0	1	0	0
NPIPL2	440348	broad.mit.edu	37	16	74419244	74419244	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:74419244C>T	uc010vmt.1	+	1	72	c.71C>T	c.(70-72)tCt>tTt	p.S24F				C9J9U8	C9J9U8_HUMAN	RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;	85										endometrium(5)|kidney(3)|lung(1)|prostate(8)	17						TCCTAGGTGTCTTTCCTGAAG	0.493000														117			36		0	0	1	0	0
OR11A1	26531	broad.mit.edu	37	6	29395394	29395394	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:29395394C>T	uc003nmg.3	-	0	116	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K		NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily A, member 1 (OR11A1), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						GTAATAGTTTCGTTTCCTGTG	0.393000														20			9		0	0	1	0	0
TNFAIP8L2	79626	broad.mit.edu	37	1	151131694	151131694	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:151131694G>A	uc021oyl.1	+	0	521	c.521G>A	c.(520-522)gGa>gAa	p.G174E	TNFAIP8L2_uc001ewx.2_Missense_Mutation_p.G174E|SCNM1_uc021oyk.1_Intron	NM_024575	NP_078851	Q6P589	TP8L2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 2 (TNFAIP8L2), mRNA.	174					innate immune response					lung(1)|skin(2)	3	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)			ATCTGTGACGGACTCAGGAAG	0.542000														15			24		0	0	1	0	0
UXS1	80146	broad.mit.edu	37	2	106761704	106761704	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:106761704G>A	uc002tdm.3	-	5	497	c.399C>T	c.(397-399)atC>atT	p.I133I	UXS1_uc002tdn.3_Silent_p.I138I|UXS1_uc002tdo.3_Silent_p.I76I|UXS1_uc010ywh.2_Intron	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	Homo sapiens UDP-glucuronate decarboxylase 1 (UXS1), transcript variant 2, mRNA.	133					cellular metabolic process	Golgi cisterna membrane|integral to membrane	UDP-glucuronate decarboxylase activity|coenzyme binding	p.R132I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TCTCATGTCCGATCCAGTGCT	0.517000														30			9		0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	12	7864227	7864227	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:7864227G>A	uc001qtf.3	+	0	139	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	21						cytoplasm|nucleus		p.E20K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		GCTCACCGAAGAAAATTCCCG	0.478000														17			10		0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5013338	5013338	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:5013338G>A	uc001lzv.3	+	4	758	c.740G>A	c.(739-741)aGg>aAg	p.R247K		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	247					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GATATCCAAAGGATCCAGCAT	0.453000														16			17		0	0	1	0	0
C18orf21	83608	broad.mit.edu	37	18	33558943	33558943	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:33558943T>C	uc002kzc.3	+	4	741	c.637T>C	c.(637-639)Tct>Cct	p.S213P	C18orf21_uc002kzd.3_Missense_Mutation_p.S125P|C18orf21_uc021uit.1_3'UTR|C18orf21_uc021uiu.1_Missense_Mutation_p.S125P	NM_031446	NP_001188404	Q32NC0	CR021_HUMAN	Homo sapiens chromosome 18 open reading frame 21 (C18orf21), transcript variant 1, mRNA.	213										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						TTTCTTATCTTCTCTGAAGGG	0.313000														23			18		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328422	80328422	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:80328422C>T	uc003hlu.3	-	0	951	c.933G>A	c.(931-933)gaG>gaA	p.E311E		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	311					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						ATGCTGGCTTCTCTCTGCCTA	0.433000														42			35		0	0	1	0	0
PSMB9	5698	broad.mit.edu	37	6	32827225	32827225	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:32827225C>T	uc003sga.3	+	5	645	c.576C>T	c.(574-576)gtC>gtT	p.V192V		NM_002800	NP_002791	P28065	PSB9_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional peptidase 2) (PSMB9), mRNA.	192					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			large_intestine(4)|lung(4)|skin(1)	9						GCGGGGGTGTCATCTACCTGG	0.512000														135			189		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	169099230	169099230	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:169099230G>A	uc011bpj.1	-	1	523	c.120C>T	c.(118-120)tcC>tcT	p.S40S	MECOM_uc003ffl.2_Silent_p.S12S|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Silent_p.S40S|MECOM_uc011bpl.1_Silent_p.S40S	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	40							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GAATATTGAGGGAGGGAGTGC	0.453000														28			23		0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160277080	160277080	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:160277080C>T	uc003iqg.4	+	22	4554	c.4244C>T	c.(4243-4245)cCa>cTa	p.P1415L		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	1415					MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ACTGACTTTCCAGAAGGGCAC	0.587000														5			3		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63269224	63269224	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:63269224G>A	uc001xfx.3	-	8	1696	c.1645C>T	c.(1645-1647)Cct>Tct	p.P549S	KCNH5_uc001xfy.3_Missense_Mutation_p.P549S|KCNH5_uc001xfz.1_Missense_Mutation_p.P491S	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	549					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGAAAAGCAGGATGTTCATTA	0.493000														25			13		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47369720	47369720	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:47369720G>A	uc002leb.2	-	33	4790	c.4502C>T	c.(4501-4503)cCc>cTc	p.P1501L	MYO5B_uc002ldz.3_Missense_Mutation_p.P71L|MYO5B_uc002lea.2_Missense_Mutation_p.P616L	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1501					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GATGTAGGCGGGGAGACAGGG	0.557000														27			27		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5463109	5463109	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:5463109A>T	uc002gci.3	-	3	1462	c.907T>A	c.(907-909)Tat>Aat	p.Y303N	NLRP1_uc002gcg.1_Missense_Mutation_p.Y303N|NLRP1_uc002gch.4_Missense_Mutation_p.Y303N|NLRP1_uc002gck.3_Missense_Mutation_p.Y303N|NLRP1_uc002gcj.3_Missense_Mutation_p.Y303N|NLRP1_uc002gcl.3_Missense_Mutation_p.Y303N|NLRP1_uc010clh.3_Missense_Mutation_p.Y303N	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	303					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)				TCCTCCACATAATCAGGCCAG	0.473000														115			105		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17735637	17735637	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:17735637C>T	uc021uqk.1	-	34	4237	c.4195G>A	c.(4195-4197)Gtg>Atg	p.V1399M		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1400	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCAGGTCTCACCGTCTGGTCA	0.582000														5			39		0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133948193	133948193	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:133948193C>T	uc004caa.1	+	18	3486	c.3388C>T	c.(3388-3390)Ctg>Ttg	p.L1130L		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	1130	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			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)		AGAGGAGATTCTGCATGCAGC	0.637000														1			7		0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45059941	45059941	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:45059941G>A	uc001zuf.2	+	7	2369	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K	TRIM69_uc001zug.1_Missense_Mutation_p.E492K|TRIM69_uc001zuh.1_Missense_Mutation_p.E333K|TRIM69_uc001zui.1_Missense_Mutation_p.E288K|TRIM69_uc010bdy.1_Missense_Mutation_p.E271K	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	Homo sapiens tripartite motif containing 69 (TRIM69), transcript variant a, mRNA.	492	B30.2/SPRY.				apoptosis	nuclear speck	zinc ion binding	p.E492G(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		AGAGAATAAAGAACCATTGCA	0.358000														37			13		0	0	1	0	0
TMEM184B	25829	broad.mit.edu	37	22	38620935	38620935	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:38620935G>A	uc003avf.1	-	7	1063	c.839C>T	c.(838-840)tCg>tTg	p.S280L	TMEM184B_uc003avh.2_Missense_Mutation_p.S214L|TMEM184B_uc003avg.2_Missense_Mutation_p.S280L|TMEM184B_uc021wpo.1_5'Flank	NM_001195071	NP_001182001	Q9Y519	T184B_HUMAN	Homo sapiens transmembrane protein 184B (TMEM184B), transcript variant 2, mRNA.	280						integral to membrane		p.H279L(1)|p.H279Y(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					CACGCGGGCCGAGTGGATTTT	0.637000														7			6		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31462650	31462650	+	Missense_Mutation	SNP	G	A	A	rs143925896	byFrequency	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:31462650G>A	uc004dda.1	-	59	9276	c.9032C>T	c.(9031-9033)cCg>cTg	p.P3011L	DMD_uc004dcq.1_Missense_Mutation_p.P282L|DMD_uc004dcr.1_Missense_Mutation_p.P551L|DMD_uc004dcs.1_Missense_Mutation_p.P551L|DMD_uc004dct.1_Missense_Mutation_p.P551L|DMD_uc004dcu.1_Missense_Mutation_p.P551L|DMD_uc004dcv.1_Missense_Mutation_p.P551L|DMD_uc004dcw.2_Missense_Mutation_p.P1667L|DMD_uc004dcx.2_Missense_Mutation_p.P1670L|DMD_uc004dcz.2_Missense_Mutation_p.P2888L|DMD_uc004dcy.1_Missense_Mutation_p.P3007L|DMD_uc004ddb.1_Missense_Mutation_p.P3003L	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3011					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)				GAGGTTATACGGTGAGAGCTG	0.463000														14			25		0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20483064	20483064	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:20483064C>T	uc010tky.2	-	0	289	c.289G>A	c.(289-291)Gga>Aga	p.G97R		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GCCATACATCCTCCAAAGGAG	0.488000														23			13		0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502267	20502268	+	Missense_Mutation	DNP	GG	AA	AA	rs139197151	byFrequency	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:20502267_20502268GG>AA	uc010tkz.2	-	0	650_651	c.650_651CC>TT	c.(649-651)tcc>tTT	p.S217F		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S217S(2)		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)		TGACTCCATAGGAGACAAGCAA	0.490000														40			28		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826205	43826205	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:43826205G>A	uc010skx.2	-	20	2998	c.2998C>T	c.(2998-3000)Cgt>Tgt	p.R1000C	ADAMTS20_uc001rno.1_Missense_Mutation_p.R154C|ADAMTS20_uc001rnp.1_Missense_Mutation_p.R154C	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1000	TSP type-1 4.		R -> H (in dbSNP:rs7297737).			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)		TCAGCAAGACGATGGCCAAAG	0.433000														35			21		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69884075	69884075	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:69884075C>T	uc011cao.1	-	3	743	c.617G>A	c.(616-618)gGa>gAa	p.G206E	UGT2B10_uc011can.1_Missense_Mutation_p.G122E			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	250					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						GTCAGCTTTTCCCATTGTCTC	0.358000														52			39		0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121457755	121457755	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:121457755C>T	uc003ypc.1	+	0	90	c.45C>T	c.(43-45)ttC>ttT	p.F15F	MRPL13_uc003ypa.3_5'Flank|MRPL13_uc010mdf.3_5'Flank|MTBP_uc003ypb.1_Silent_p.F15F|MTBP_uc011lie.1_Non-coding_Transcript	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.	15					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AAGGAAAATTCCCGTCGGCGG	0.592000														33			26		0	0	1	0	0
TMEM182	130827	broad.mit.edu	37	2	103431349	103431349	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:103431349C>T	uc010fjb.3	+	4	799	c.612C>T	c.(610-612)gcC>gcT	p.A204A	TMEM182_uc002tcc.4_Silent_p.A161A|TMEM182_uc002tcd.4_Silent_p.A108A|TMEM182_uc010ywe.2_Non-coding_Transcript	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN	Homo sapiens transmembrane protein 182 (TMEM182), mRNA.	204						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TTTTCCTGGCCCCAGCTGGGA	0.433000														24			17		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34101037	34101037	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:34101037C>T	uc003oir.4	-	0	600	c.237G>A	c.(235-237)ctG>ctA	p.L79L	GRM4_uc011dsn.2_Silent_p.L79L|GRM4_uc010jvh.3_Silent_p.L79L|GRM4_uc010jvi.3_5'UTR|GRM4_uc010jvk.1_5'UTR	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	79					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GCATGGCCTCCAGCCGGTGGA	0.622000														36			13		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15284925	15284925	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:15284925C>A	uc002nan.3	-	24	4766	c.4690G>T	c.(4690-4692)Ggc>Tgc	p.G1564C		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1564					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGTTCGGAGCCAGGACTAGGC	0.687000														39			4		0.000602214	0.000603054	1	1	0
ZNF292	23036	broad.mit.edu	37	6	87971086	87971086	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:87971086C>T	uc003plm.4	+	7	7780	c.7739C>T	c.(7738-7740)tCt>tTt	p.S2580F		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CATCCTGCATCTTTTGACTGG	0.418000														19			12		0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35449231	35449231	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:35449231C>T	uc002nxh.1	-	3	1915	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	Homo sapiens zinc finger protein 792 (ZNF792), mRNA.	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TTCCCACATTCACTGCACTGG	0.498000														4			39		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9520219	9520219	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:9520219C>T	uc002wnl.2	-	10	2595	c.2050G>A	c.(2050-2052)Gag>Aag	p.E684K	PAK7_uc002wnk.2_Missense_Mutation_p.E684K|PAK7_uc002wnj.2_Missense_Mutation_p.E684K|PAK7_uc010gby.1_Missense_Mutation_p.E597K	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	684	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGAGAGGGCTCCCTCACCAAC	0.507000														92			64		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67629389	67629389	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:67629389C>T	uc002aqo.2	+	4	561	c.464C>T	c.(463-465)cCc>cTc	p.P155L	IQCH_uc010ujv.2_Intron|IQCH_uc002aqn.2_Intron|IQCH_uc002aqp.2_Intron|IQCH_uc002aqq.2_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	155										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)		TGCACAGATCCCTATTTCACT	0.378000														65			66		0	0	1	0	0
JHDM1D	80853	broad.mit.edu	37	7	139818971	139818971	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:139818971G>A	uc003vvm.3	-	8	1192	c.1188C>T	c.(1186-1188)ttC>ttT	p.F396F	JHDM1D_uc010lng.3_Non-coding_Transcript	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	396					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CAAAGAAAGGGAATTTGAAAA	0.294000														65			43		0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356374	40356374	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:40356374G>A	uc003gva.1	+	4	1293	c.1277G>A	c.(1276-1278)aGg>aAg	p.R426K		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	426					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GTGCTGACGAGGAATATTGAG	0.498000														13			17		0	0	1	0	0
BTBD10	84280	broad.mit.edu	37	11	13427337	13427337	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:13427337A>G	uc010rcl.2	-	5	1170	c.899T>C	c.(898-900)aTg>aCg	p.M300T	BTBD10_uc001mkz.3_Missense_Mutation_p.M292T|BTBD10_uc009ygn.3_Non-coding_Transcript|BTBD10_uc010rcm.2_Missense_Mutation_p.M244T|BTBD10_uc010rcn.2_Missense_Mutation_p.M261T|BTBD10_uc009ygo.3_Missense_Mutation_p.M244T	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN	Homo sapiens BTB (POZ) domain containing 10 (BTBD10), mRNA.	292						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		AGGGAGGATCATTTCTTCCAG	0.398000														47			31		0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944407	55944407	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:55944407G>A	uc010rjb.2	+	0	314	c.314G>A	c.(313-315)gGa>gAa	p.G105E		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G105R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TTGTGTTTCGGAGTGTTCATC	0.463000														50			33		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24492992	24492992	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:24492992C>T	uc003jgr.2	-	9	2064	c.1558G>A	c.(1558-1560)Ggt>Agt	p.G520S	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	520	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G520S(2)|p.L519S(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTCTGTCCACCTAAAGGGTCA	0.328000										HNSCC(23;0.051)				88			74		0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154139227	154139227	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:154139227C>T	uc003faa.3	-	2	1324	c.1224G>A	c.(1222-1224)ggG>ggA	p.G408G		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	408						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTTATAAATCCCATAACTTT	0.313000														23			21		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112786132	112786132	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:112786132C>T	uc002thk.1	+	18	2813	c.2691C>T	c.(2689-2691)atC>atT	p.I897I	MERTK_uc002thl.1_Silent_p.I721I	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	897					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						ACTTGAACATCGACCCTGACT	0.542000														74			48		0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240969596	240969596	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:240969596C>T	uc001hyt.2	-	7	663	c.609G>A	c.(607-609)aaG>aaA	p.K203K	RGS7_uc010pyh.2_Silent_p.K345K|RGS7_uc010pyj.1_Silent_p.K287K|RGS7_uc001hyu.2_Silent_p.K371K|RGS7_uc009xgn.1_Silent_p.K318K|RGS7_uc001hyv.2_Silent_p.K371K|RGS7_uc001hyw.2_Silent_p.K371K	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	371					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.P202R(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TAATAGGCCTCTTTTTCAGGT	0.458000														91			29		0	0	1	0	0
AQPEP	206338	broad.mit.edu	37	5	115336332	115336332	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:115336332G>A	uc003kro.3	+	8	1788	c.1624G>A	c.(1624-1626)Gat>Aat	p.D542N	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	542					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										TGAGCAAGATGATCTATGGAG	0.353000														23			14		0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223178203	223178203	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:223178203C>T	uc001hnu.2	+	9	3790	c.3464C>T	c.(3463-3465)tCc>tTc	p.S1155F		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	1155					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AGTGCCTTTTCCCATGCCTTG	0.473000														295			448		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99145181	99145181	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:99145181T>A	uc001tge.2	-	24	4041	c.3624A>T	c.(3622-3624)aaA>aaT	p.K1208N	ANKS1B_uc001tgf.2_Missense_Mutation_p.K724N|ANKS1B_uc001tgk.3_Missense_Mutation_p.K505N|ANKS1B_uc010svd.2_Missense_Mutation_p.K214N|ANKS1B_uc001tgd.2_Missense_Mutation_p.K374N|ANKS1B_uc009ztp.3_Missense_Mutation_p.K239N|ANKS1B_uc010svf.2_Missense_Mutation_p.K238N|ANKS1B_uc010sve.2_Missense_Mutation_p.K238N|ANKS1B_uc001tgh.4_Missense_Mutation_p.K214N|ANKS1B_uc009ztr.3_Missense_Mutation_p.K398N|ANKS1B_uc001tgj.3_Missense_Mutation_p.K374N|ANKS1B_uc001tgi.3_Missense_Mutation_p.K458N|ANKS1B_uc009zts.2_Missense_Mutation_p.K434N|ANKS1B_uc001tgg.4_Missense_Mutation_p.K306N|ANKS1B_uc010svg.2_Missense_Mutation_p.K343N	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	1208	PID.					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)		GTTTGGAGGGTTTGTTTTCAA	0.488000														28			25		0	0	1	0	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273498	26273498	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:26273498G>C	uc003nhk.3	+	0	295	c.295G>C	c.(295-297)Gtg>Ctg	p.V99L	HIST1H3G_uc003nhi.3_5'Flank	NM_003525	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bi (HIST1H2BI), mRNA.	99					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.V99L(2)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CCAAACGGCTGTGCGCCTGCT	0.592000														69			34		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15639249	15639249	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:15639249A>G	uc001ioc.1	-	20	2168	c.2168T>C	c.(2167-2169)aTg>aCg	p.M723T	ITGA8_uc010qcb.1_Missense_Mutation_p.M708T	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	723					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.M723I(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ACACACCACCATCCTGGTTAC	0.458000														18			41		0	0	1	0	0
ANP32C	23520	broad.mit.edu	37	4	165118746	165118746	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:165118746C>T	uc011cjk.2	-	0	118	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	40										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)		TCTTCAAATTCATCTGTGAGG	0.453000														65			57		0	0	1	0	0
KIAA0240	23506	broad.mit.edu	37	6	42833144	42833144	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:42833144C>T	uc003osn.1	+	12	3351	c.3200C>T	c.(3199-3201)tCc>tTc	p.S1067F	KIAA0240_uc011duw.1_Missense_Mutation_p.S1067F|KIAA0240_uc003osp.1_Missense_Mutation_p.S1067F	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	1067										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)			GAAACTGACTCCATTTTAGAA	0.517000														116			42		0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158923027	158923027	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:158923027C>T	uc003qrf.3	+	12	3689	c.2332C>T	c.(2332-2334)Ccg>Tcg	p.P778S	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	778					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.P778T(2)|p.P778Q(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCTGCCTCCCCCGCCGCAGGG	0.637000														41			42		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039759	248039759	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:248039759C>T	uc001ido.3	+	5	1477	c.1429C>T	c.(1429-1431)Cct>Tct	p.P477S	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	477						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCATTTAGATCCTGCTTCTGA	0.448000														26			33		0	0	1	0	0
ZIC5	85416	broad.mit.edu	37	13	100617849	100617849	+	Missense_Mutation	SNP	C	T	T	rs140607831		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:100617849C>T	uc001vom.1	-	1	2023	c.1774G>A	c.(1774-1776)Ggg>Agg	p.G592R		NM_033132	NP_149123	Q96T25	ZIC5_HUMAN	Homo sapiens Zic family member 5 (ZIC5), mRNA.	592					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACTGGAGTCCCCACTGATGAG	0.582000														113			56		0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156504511	156504511	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:156504511G>A	uc001fpf.3	-	28	3597	c.3522C>T	c.(3520-3522)ctC>ctT	p.L1174L		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1174	Ras-GAP.				small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTAGTACAGGAGGTTCCCGA	0.637000														14			4		0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133078617	133078617	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:133078617G>A	uc003qdt.3	-	1	293	c.282C>T	c.(280-282)ttC>ttT	p.F94F	VNN2_uc003qds.3_5'UTR|VNN2_uc010kgb.3_Silent_p.F94F|VNN2_uc003qdv.3_Silent_p.F41F	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	94	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CCAGATAAGGGAAAACAGTTT	0.398000														31			19		0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890702	23890702	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:23890702C>T	uc001ywj.4	-	0	2292	c.2188G>A	c.(2188-2190)Ggc>Agc	p.G730S		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TTAGAGGAGCCCCTGCGGTCT	0.587000														24			8		0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101375292	101375292	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:101375292G>A	uc001pgk.4	-	1	833	c.408C>T	c.(406-408)gcC>gcT	p.A136A	TRPC6_uc009ywy.3_Silent_p.A136A|TRPC6_uc009ywz.1_Silent_p.A136A	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	136					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCAACTGTAGGGCATTCTGGC	0.453000														27			37		0	0	1	0	0
LFNG	3955	broad.mit.edu	37	7	2552877	2552877	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:2552877G>A	uc021zyw.1	+	1	260	c.134G>A	c.(133-135)tGg>tAg	p.W45*		NM_001166355	NP_001159827	Q8NES3	LFNG_HUMAN	Homo sapiens LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (LFNG), transcript variant 3, mRNA.	0					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		acggacagatggacagatgga	0.557000														279			44		0	0	1	0	0
TNFRSF9	3604	broad.mit.edu	37	1	7995160	7995160	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:7995160C>T	uc001aot.3	-	6	718	c.457G>A	c.(457-459)Gag>Aag	p.E153K		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	153					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		ACGTCCCTCTCCTTCGTCCCA	0.502000														24			21		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455611	84455611	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:84455611G>A	uc001vlk.3	-	0	918	c.32C>T	c.(31-33)tCt>tTt	p.S11F		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	11						integral to membrane		p.T10K(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)		AAAACAAAGAGACGTCTCCAG	0.468000														45			60		0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18923740	18923740	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:18923740C>T	uc002gut.1	+	14	1876	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	SLC5A10_uc002gur.1_Missense_Mutation_p.A566V|SLC5A10_uc002guu.1_Missense_Mutation_p.A596V|SLC5A10_uc002guv.1_Missense_Mutation_p.A569V|SLC5A10_uc010vyl.1_Missense_Mutation_p.A560V	NM_152351	NP_689564	A0PJK1	SC5AA_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 10 (SLC5A10), transcript variant 1, mRNA.	596					sodium ion transport|transmembrane transport	integral to membrane	transporter activity	p.A612T(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GCCTACTTCGCCTGACACTGC	0.562000														21			12		0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39040784	39040784	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:39040784C>T	uc003ooj.4	+	5	716	c.656C>T	c.(655-657)tCc>tTc	p.S219F	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	219					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	GGGCTCCTCTCCTACCAGGTG	0.617000														64			21		0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12856267	12856267	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:12856267G>A	uc001ilo.3	+	6	950	c.715G>A	c.(715-717)Gag>Aag	p.E239K	CAMK1D_uc001iln.3_Missense_Mutation_p.E239K	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	239	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GGCGGAATATGAGTTTGACTC	0.532000														44			147		0	0	1	0	0
S100A12	6283	broad.mit.edu	37	1	153347040	153347040	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:153347040C>T	uc001fbr.1	-	1	97	c.29G>A	c.(28-30)gGa>gAa	p.G10E		NM_005621	NP_005612	P80511	S10AC_HUMAN	Homo sapiens S100 calcium binding protein A12 (S100A12), mRNA.	10					defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process	cytosol|extracellular region|insoluble fraction|nucleus	RAGE receptor binding|calcium ion binding|zinc ion binding	p.G10R(1)		endometrium(1)|kidney(1)|skin(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	ATTGACAATTCCCTCCAGATG	0.478000														109			47		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179439686	179439686	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:179439686C>T	uc021vsy.1	-	274	63694	c.63469G>A	c.(63469-63471)Gat>Aat	p.D21157N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D14852N|TTN_uc021vta.1_Missense_Mutation_p.D14785N|TTN_uc021vtb.1_Missense_Mutation_p.D14660N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22084	Fibronectin type-III 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L21157H(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)			CCTGGGATATCATGGACTTGA	0.443000														15			10		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108719493	108719493	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:108719493C>T	uc003dxl.3	-	20	2185	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	MORC1_uc011bhn.2_Missense_Mutation_p.E679K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	700					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						CTTTTCATTTCCCAAGAAGCG	0.373000														35			35		0	0	1	0	0
PHF2P1	266695	broad.mit.edu	37	13	19625384	19625384	+	RNA	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:19625384A>G	uc001umb.1	-	7		c.3139T>C								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		ATCAGGCAGGACTTGGTCACT	0.567000														22			14		0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189872648	189872648	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:189872648G>A	uc002uqj.1	+	45	3518	c.3401G>A	c.(3400-3402)gGa>gAa	p.G1134E		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1134	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGCAGTCCAGGACCTGCAGGC	0.473000														65			37		0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54497798	54497798	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:54497798G>A	uc004dtg.3	-	1	1164	c.430C>T	c.(430-432)Cct>Tct	p.P144S	FGD1_uc011moi.1_5'Flank	NM_004463	NP_004454	P98174	FGD1_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA.	144	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|nucleus|plasma membrane|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGCTGGCTAGGGGTTTCAGTC	0.612000														10			23		0	0	1	0	0
PSMC1	5700	broad.mit.edu	37	14	90730089	90730089	+	Silent	SNP	C	T	T	rs140086070		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:90730089C>T	uc001xyf.3	+	4	411	c.363C>T	c.(361-363)gcC>gcT	p.A121A	PSMC1_uc001xyg.3_Silent_p.A48A|PSMC1_uc001xyh.3_Silent_p.A48A	NM_002802	NP_002793	P62191	PRS4_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 1 (PSMC1), mRNA.	121					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		ACAATCATGCCATCGTGTCTA	0.478000														28			23		0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95513772	95513772	+	RNA	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:95513772G>A	uc010fhp.3	-	4		c.633C>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						TTTGTCAAATGATGAGAAATA	0.348000														351			25		0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74274262	74274262	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:74274262G>A	uc002skb.4	+	0	813	c.813G>A	c.(811-813)tgG>tgA	p.W271*	TET3_uc010fez.2_Nonsense_Mutation_p.W271*	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	271							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCCCTCATGGCCTGTGGTTC	0.582000														32			25		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67077236	67077236	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:67077236A>G	uc002jhw.1	-	36	4842	c.4667T>C	c.(4666-4668)cTa>cCa	p.L1556P		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1556					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GGTCTGTGATAGAGGGTAAAC	0.368000														60			47		0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27222581	27222581	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:27222581G>A	uc003nja.3	+	9	1275	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Silent_p.Q163Q|PRSS16_uc003njd.3_Intron	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	420					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CAGTAGCCCAGGCTGTGGCTC	0.547000														99			61		0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35258237	35258237	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:35258237G>A	uc010edn.1	-	2	613	c.225C>T	c.(223-225)tcC>tcT	p.S75S	ZNF599_uc010edm.2_Silent_p.S38S|ZNF599_uc010xsd.2_Non-coding_Transcript|ZNF599_uc010edo.2_Non-coding_Transcript	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	Homo sapiens zinc finger protein 599 (ZNF599), mRNA.	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGGTGCTTTGGGAGAGGCCTC	0.552000														5			38		0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128706597	128706597	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:128706597C>T	uc003elj.4	-	3	725	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	KIAA1257_uc003elg.1_Missense_Mutation_p.E177K|KIAA1257_uc003eli.4_Missense_Mutation_p.E65K	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	177										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TTTAATAATTCCTTTGTCACA	0.398000														10			13		0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3910877	3910877	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:3910877C>T	uc010xhz.2	+	8	1357	c.874C>T	c.(874-876)Cct>Tct	p.P292S	ATCAY_uc002lyy.4_Missense_Mutation_p.P286S|ATCAY_uc010dts.3_Missense_Mutation_p.P43S			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	286	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CATCTCTCGCCCTTTCATCAG	0.562000														54			18		0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151821280	151821280	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:151821280C>T	uc004ffp.1	+	8	1455	c.1435C>T	c.(1435-1437)Cct>Tct	p.P479S		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	479						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)					CAGTATTTTTCCTACCGAAAT	0.542000														18			57		0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202149821	202149821	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:202149821G>A	uc002uxr.1	+	8	1294	c.1085G>A	c.(1084-1086)gGg>gAg	p.G362E	CASP8_uc002uxq.1_Missense_Mutation_p.G347E|CASP8_uc002uxp.1_Missense_Mutation_p.G379E|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Missense_Mutation_p.G421E|CASP8_uc002uxw.1_Missense_Mutation_p.G347E|CASP8_uc010ftf.2_Missense_Mutation_p.G278E	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	362					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						GCTTGTCAGGGGGATAACTAC	0.448000										HNSCC(4;0.00038)				53			29		0	0	1	0	0
PRKAG3	53632	broad.mit.edu	37	2	219694934	219694934	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:219694934C>T	uc002vjb.1	-	3	419	c.400G>A	c.(400-402)Gag>Aag	p.E134K	PRKAG3_uc010zkn.1_Non-coding_Transcript|PRKAG3_uc010fvy.1_Missense_Mutation_p.E134K|PRKAG3_uc010zko.1_Missense_Mutation_p.E130K	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	134					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGGCCAGCTCCACATCATCT	0.642000														22			17		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3000172	3000172	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:3000172A>T	uc022aqr.1	-	40	6446	c.6056T>A	c.(6055-6057)tTt>tAt	p.F2019Y	CSMD1_uc011kwj.2_Missense_Mutation_p.F1412Y|CSMD1_uc010lrg.3_Missense_Mutation_p.F88Y	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2020	CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCGGTAGAAAAATTCAGAAA	0.393000														64			52		0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107704968	107704968	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:107704968C>T	uc011lht.2	+	5	640	c.541C>T	c.(541-543)Cat>Tat	p.H181Y	OXR1_uc022azp.1_Missense_Mutation_p.H180Y|OXR1_uc003ymf.3_Missense_Mutation_p.H180Y|OXR1_uc011lhu.2_Missense_Mutation_p.H173Y|OXR1_uc010mcg.3_Intron|OXR1_uc003ymg.1_Missense_Mutation_p.H113Y|OXR1_uc003ymi.1_Missense_Mutation_p.H92Y	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	181					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TCCTGATGTCCATCCAACAGA	0.333000														19			12		0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15967437	15967437	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:15967437G>A	uc002wou.3	+	13	1315	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	MACROD2_uc002wot.3_Missense_Mutation_p.E351K|MACROD2_uc002woz.3_Missense_Mutation_p.E116K|MACROD2_uc002wpb.3_Missense_Mutation_p.E116K|MACROD2_uc002wpd.3_Missense_Mutation_p.E2K	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	351	Glu-rich.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CTCATATATGGAAACAGAAGG	0.333000														15			6		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284895	223284895	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:223284895G>A	uc021pjl.1	-	0	1479	c.1479C>T	c.(1477-1479)ctC>ctT	p.L493L	TLR5_uc001hnv.2_Silent_p.L493L|TLR5_uc001hnw.2_Silent_p.L493L	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	493			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	p.L493L(2)		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)		CATCCCAACAGAGCTCAGTTT	0.423000														28			44		0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50605574	50605574	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:50605574C>T	uc003tpg.4	-	3	620	c.419G>A	c.(418-420)gGg>gAg	p.G140E	DDC_uc022ade.1_Intron|DDC_uc003tpf.4_Missense_Mutation_p.G140E|DDC_uc022adb.1_Missense_Mutation_p.G102E|DDC_uc022adc.1_Missense_Mutation_p.G140E|DDC_uc022add.1_Missense_Mutation_p.G140E|DDC_uc022adf.1_Missense_Mutation_p.G140E|LOC100129427_uc022adg.1_Intron	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	140	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CACTCCTCCCCCTTCTCCAGC	0.557000														44			26		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18413814	18413814	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:18413814C>T	uc003wza.3	-	14	2936	c.2833G>A	c.(2833-2835)Gag>Aag	p.E945K	PSD3_uc003wyx.4_Missense_Mutation_p.E274K|PSD3_uc003wyy.3_Missense_Mutation_p.E411K|PSD3_uc003wyz.3_Missense_Mutation_p.E246K	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	946					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCGGCCAGCTCGGTGGTGATC	0.468000														55			39		0	0	1	0	0
VEGFC	7424	broad.mit.edu	37	4	177608657	177608657	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:177608657G>A	uc003ius.1	-	5	1259	c.829C>T	c.(829-831)Cat>Tat	p.H277Y		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	277					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CAGATGTCATGGAATCCATCT	0.468000														7			7		0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13214476	13214476	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:13214476C>T	uc001ima.3	+	3	578	c.450C>T	c.(448-450)tcC>tcT	p.S150S	MCM10_uc001imb.3_Silent_p.S150S|MCM10_uc001imc.3_Silent_p.S150S	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	150					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TGCAAAAATCCCCTGGTAAGA	0.403000														16			20		0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40104609	40104609	+	Missense_Mutation	SNP	C	T	T	rs142570098	by1000genomes	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:40104609C>T	uc003guy.4	+	3	1482	c.1144C>T	c.(1144-1146)Cct>Tct	p.P382S	N4BP2_uc010ifq.3_Missense_Mutation_p.P302S|N4BP2_uc010ifr.3_Missense_Mutation_p.P302S	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	382						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CTTTGTAGCTCCTGTTGTAAC	0.473000														57			34		0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15838913	15838913	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:15838913C>T	uc002nbm.2	+	0	80	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	20					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)					TCTCTGCCTTCCCCCACCTCC	0.577000														24			179		0	0	1	0	0
SLC26A2	1836	broad.mit.edu	37	5	149357297	149357297	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:149357297C>T	uc003lrh.3	+	1	350	c.82C>T	c.(82-84)Cat>Tat	p.H28Y		NM_000112	NP_000103	P50443	S26A2_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA.	28						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATCTGGGATCCATCTGGAACT	0.408000														29			19		0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43516013	43516013	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:43516013G>A	uc003ovp.3	-	17	2256	c.2045C>T	c.(2044-2046)tCt>tTt	p.S682F		NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	Homo sapiens exportin 5 (XPO5), mRNA.	682					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			CATGTCTTGAGAAAGCCAGAT	0.502000														118			60		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179414258	179414258	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:179414258G>A	uc001gmo.3	+	15	2104	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K	AXDND1_uc001gmn.2_Missense_Mutation_p.E361K|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Intron|AXDND1_uc021pfj.1_Missense_Mutation_p.E531K	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	573								p.E573*(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						GATGCCATCAGAGCGACAGTA	0.348000														27			27		0	0	1	0	0
VPS28	51160	broad.mit.edu	37	8	145649477	145649477	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:145649477G>A	uc003zct.1	-	8	585	c.495C>T	c.(493-495)caC>caT	p.H165H	VPS28_uc003zcs.1_Silent_p.H165H	NM_183057	NP_898880	Q9UK41	VPS28_HUMAN	Homo sapiens vacuolar protein sorting 28 homolog (S. cerevisiae) (VPS28), transcript variant 2, mRNA.	165	VPS28 C-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGCTCATGCGGTGCATGGTCT	0.697000														48			25		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34192749	34192749	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:34192749G>A	uc011kap.2	+	15	2296	c.1922G>A	c.(1921-1923)gGa>gAa	p.G641E		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	641	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		p.P640L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TGTGGTCCGGGATGTATCAAG	0.498000														71			53		0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4872467	4872467	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:4872467G>A	uc001qne.1	+	7	1500	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	470						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GGCACTCCGGGAAAAACTGAA	0.393000														26			17		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202905	56202905	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:56202905G>A	uc002lhj.4	-	4	4728	c.4514C>T	c.(4513-4515)cCa>cTa	p.P1505L	ALPK2_uc002lhk.1_Missense_Mutation_p.P836L	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1505							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACATCCACTTGGAATTCTTTC	0.483000														39			17		0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55340378	55340378	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:55340378C>T	uc010rih.2	+	0	775	c.775C>T	c.(775-777)Ctt>Ttt	p.L259F		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	259			L -> P (in dbSNP:rs559449).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GTACACATGCCTTGCAACCGT	0.403000														28			16		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62022171	62022171	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:62022171C>T	uc002jds.1	-	21	3852	c.3775_splice	c.e21-1	p.K1259_splice		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1259					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)	GCTCCTCCTTCTGTGGGAGCC	0.592000														12			11		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26781399	26781399	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:26781399C>T	uc002rhk.3	-	0	168	c.41G>A	c.(40-42)cGg>cAg	p.R14Q		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	14					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)					GCCCCTGCCCCGCAGCTCCGA	0.652000														41			20		0	0	1	0	0
PRKAG2	51422	broad.mit.edu	37	7	151265878	151265878	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:151265878G>A	uc003wkk.3	-	10	1768	c.1157C>T	c.(1156-1158)cCc>cTc	p.P386L	PRKAG2_uc003wki.3_Missense_Mutation_p.P145L|PRKAG2_uc011kvl.2_Missense_Mutation_p.P261L|PRKAG2_uc003wkj.3_Missense_Mutation_p.P342L|PRKAG2_uc003wkl.2_Intron|PRKAG2_uc010lqe.1_Non-coding_Transcript	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	386	CBS 2.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		GTCAATAACGGGCAATCTGTG	0.383000														20			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179592079	179592079	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:179592079C>T	uc021vsy.1	-	65	16506	c.16281G>A	c.(16279-16281)aaG>aaA	p.K5427K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.K2088K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6354	Ig-like 35.						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)			CTTCTAATTTCTTTACAAACT	0.383000														13			10		0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34833066	34833066	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:34833066C>T	uc002nvd.4	+	9	3086	c.2227C>T	c.(2227-2229)Ccg>Tcg	p.P743S		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	743										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GCCCATTGGACCGCAGCAGCC	0.622000														168			53		0	0	1	0	0
OR6C68	403284	broad.mit.edu	37	12	55886864	55886864	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:55886864G>A	uc010spo.2	+	0	718	c.718G>A	c.(718-720)Gcc>Acc	p.A240T		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						AAAGAAAAAAGCCTTTTCTAC	0.338000														16			21		0	0	1	0	0
FBXO30	84085	broad.mit.edu	37	6	146127185	146127185	+	Silent	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:146127185T>C	uc003qla.3	-	1	556	c.357A>G	c.(355-357)caA>caG	p.Q119Q	LOC100507557_uc003qky.2_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	Homo sapiens F-box protein 30 (FBXO30), mRNA.	119							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CCATATCCAATTGTGCCACTT	0.428000														53			38		0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68934466	68934466	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:68934466C>T	uc003hdt.1	-	6	674	c.625G>A	c.(625-627)Gga>Aga	p.G209R	LOC550112_uc003hdl.4_Intron|BC041902_uc011cak.2_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	209	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GTTTCCCTTCCTTGGACAATT	0.483000														41			17		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	140129	140129	+	RNA	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrGL000192.1:140129G>A	uc010yih.1	-	17		c.3476C>T						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											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)				CTGCATCAGGGATACAGTGAA	0.562000														13			48		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39454684	39454684	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:39454684G>A	uc001uwv.3	+	23	9579	c.9270G>A	c.(9268-9270)ggG>ggA	p.G3090G		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	3090					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCCCCCATGGGAGAGCACCTC	0.597000														46			18		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40740560	40740560	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:40740560C>T	uc001rmg.4	+	41	6236	c.6115C>T	c.(6115-6117)Cgt>Tgt	p.R2039C	LRRK2_uc009zjw.3_Missense_Mutation_p.R877C|LRRK2_uc001rmi.3_Missense_Mutation_p.R872C	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	2039	Protein kinase.				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)				TTCAGGGTTTCGTGCACCTGA	0.383000														21			16		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16244078	16244078	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:16244078C>T	uc002den.4	-	30	4461	c.4424G>A	c.(4423-4425)gGg>gAg	p.G1475E	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.	1475	ABC transporter 2.				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)		TGCCACCTGCCCCTTGTCCAT	0.652000														30			8		0	0	1	0	0
NFKB1	4790	broad.mit.edu	37	4	103516075	103516075	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:103516075C>T	uc011ceq.2	+	12	1701	c.1234C>T	c.(1234-1236)Cct>Tct	p.P412S	NFKB1_uc011cep.2_Missense_Mutation_p.P413S|NFKB1_uc011cer.2_Missense_Mutation_p.P232S	NM_001165412	NP_001158884	P19838	NFKB1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA.	412	Gly-rich.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	I-kappaB/NF-kappaB complex|cytosol|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	CTATGGATTTCCTACTTATGG	0.373000														16			14		0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54392969	54392969	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:54392969C>T	uc002qcq.1	+	3	645	c.363C>T	c.(361-363)ctC>ctT	p.L121L	PRKCG_uc010eqz.1_Silent_p.L121L|PRKCG_uc010yef.1_Silent_p.L121L|PRKCG_uc010yeg.1_Silent_p.L121L|PRKCG_uc010yeh.1_Intron	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	121					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)		GCTCCCTCCTCTACGGGCTTG	0.627000														2			22		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75993836	75993836	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:75993836C>T	uc003kek.3	+	32	4453	c.4231C>T	c.(4231-4233)Cgt>Tgt	p.R1411C	IQGAP2_uc011csv.2_Missense_Mutation_p.R907C|IQGAP2_uc003kel.3_Missense_Mutation_p.R907C|IQGAP2_uc010izw.1_Missense_Mutation_p.R112C	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	1411					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding	p.R1411C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AAGAATCTATCGTAAGCTTCG	0.353000														12			6		0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73659055	73659055	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:73659055G>A	uc010dgl.3	-	3	484	c.275C>T	c.(274-276)aCc>aTc	p.T92I	RECQL5_uc010dgk.3_Missense_Mutation_p.T65I|RECQL5_uc002joz.4_Missense_Mutation_p.T92I|RECQL5_uc002jpa.4_Missense_Mutation_p.T92I|RECQL5_uc002jpb.2_Missense_Mutation_p.T92I	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	92	Helicase ATP-binding.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TACCTTTAGGGTTAGCAAGTG	0.512000								Other identified genes with known or suspected DNA repair function						82			66		0	0	1	0	0
LGI2	55203	broad.mit.edu	37	4	25005285	25005285	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:25005285G>A	uc003grf.2	-	7	1525	c.1426C>T	c.(1426-1428)Cac>Tac	p.H476Y		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	476						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GCCAGGTAGTGATTATCTTTA	0.483000														65			51		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100108602	100108602	+	Silent	SNP	A	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:100108602A>T	uc003yiv.3	+	3	465	c.354A>T	c.(352-354)tcA>tcT	p.S118S	VPS13B_uc003yiw.3_Silent_p.S118S|VPS13B_uc003yit.3_Silent_p.S118S|VPS13B_uc003yiu.1_Silent_p.S118S|VPS13B_uc003yis.3_Silent_p.S118S|VPS13B_uc011lgy.2_5'UTR	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	118					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)			GCACAAAATCATCAATCAAAC	0.383000														25			22		0	0	1	0	0
C9orf163	158055	broad.mit.edu	37	9	139379478	139379479	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:139379478_139379479CC>TT	uc004chy.3	+	0	1532_1533	c.578_579CC>TT	c.(577-579)tcc>tTT	p.S193F	SEC16A_uc004chx.3_5'Flank|SEC16A_uc010nbn.3_5'Flank|SEC16A_uc010nbo.1_5'Flank	NM_152571	NP_689784	Q8N9P6	CI163_HUMAN	Homo sapiens chromosome 9 open reading frame 163 (C9orf163), mRNA.	193							protein binding			kidney(1)|lung(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)		CTAGGGTCCTCCGAAACCCTGT	0.604000											OREG0019617	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		4			5		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129674431	129674431	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:129674431G>A	uc021zfb.1	+	31	4751	c.4646G>A	c.(4645-4647)cGa>cAa	p.R1549Q	LAMA2_uc003qbn.3_Missense_Mutation_p.R1549Q|LAMA2_uc003qbo.3_Missense_Mutation_p.R1549Q	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1549	Laminin EGF-like 17.				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)		TGCACGTGCCGACCTGGAGCC	0.562000														40			23		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	205990428	205990428	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:205990428C>T	uc002var.2	+	9	1608	c.1401C>T	c.(1399-1401)gcC>gcT	p.A467A	PARD3B_uc010fub.2_Silent_p.A467A|PARD3B_uc002vao.2_Silent_p.A467A|PARD3B_uc002vap.2_Silent_p.A467A|PARD3B_uc002vaq.2_Silent_p.A467A	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	467	PDZ 2.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TGGTCATTGCCCGCCAAGAAG	0.488000														58			29		0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269450	150269450	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:150269450G>A	uc003whl.3	+	2	374	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	GIMAP4_uc011kuu.2_Intron|GIMAP4_uc011kuv.2_Missense_Mutation_p.E112K	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	98							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCCAATGCTGAAACGTCCAA	0.512000														31			23		0	0	1	0	0
RPL7L1	285855	broad.mit.edu	37	6	42852397	42852397	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:42852397C>T	uc003osq.1	+	3	336	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	RPL7L1_uc011dux.1_Missense_Mutation_p.R111C|RPL7L1_uc010jxw.1_5'UTR|RPL7L1_uc003osr.1_5'UTR|RPL7L1_uc011duy.1_Missense_Mutation_p.R111C|RPL7L1_uc003ost.3_Missense_Mutation_p.R111C|RPL7L1_uc003oss.2_5'UTR	NM_198486	NP_940888	Q6DKI1	RL7L_HUMAN	Homo sapiens ribosomal protein L7-like 1 (RPL7L1), mRNA.	111					translation	large ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			TGCAAGACTTCGCCTAAAGAA	0.443000														67			22		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29056140	29056140	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:29056140C>T	uc002kws.3	+	15	3026	c.2917C>T	c.(2917-2919)Cct>Tct	p.P973S	DSG3_uc002kwt.3_Missense_Mutation_p.P255S	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	973					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTCCAGTGTTCCTGGCAACCT	0.498000														59			48		0	0	1	0	0
CXCR7	57007	broad.mit.edu	37	2	237489211	237489211	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:237489211C>T	uc021vys.1	+	0	103	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	CXCR7_uc010fyq.3_Missense_Mutation_p.P35S|CXCR7_uc002vwd.3_Missense_Mutation_p.P35S	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	35					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		GGTGATGTGTCCCAACATGCC	0.532000														19			16		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246930	56246930	+	Missense_Mutation	SNP	C	T	T	rs140973320	byFrequency	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:56246930C>T	uc002lhj.4	-	3	1292	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	360							ATP binding|protein serine/threonine kinase activity	p.D360N(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCTTCGTCATCGCTTTCTAAT	0.502000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			14		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181767591	181767591	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:181767591G>A	uc009wxt.3	+	47	6758	c.6563G>A	c.(6562-6564)gGa>gAa	p.G2188E	CACNA1E_uc001gow.3_Missense_Mutation_p.G2145E|CACNA1E_uc009wxs.3_Missense_Mutation_p.G2126E	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2188					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						CCTGCTGATGGAAGCGAGGAG	0.637000														60			31		0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40322138	40322138	+	Silent	SNP	C	T	T	rs146054199		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:40322138C>T	uc002hzb.2	-	7	1710	c.1377G>A	c.(1375-1377)acG>acA	p.T459T		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	459					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTATGAGCATCGTGCAGATGG	0.602000														38			21		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248603	20248603	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	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														90			76		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	139894863	139894863	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:139894863T>G	uc003etn.3	+	1	370	c.180T>G	c.(178-180)atT>atG	p.I60M	CLSTN2_uc003etm.2_Missense_Mutation_p.I60M	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	60	Cadherin 1.				homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	p.V59L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						ACACAGTCATTTTGGACCCAC	0.453000										HNSCC(16;0.037)				24			16		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634132	70634132	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:70634132C>T	uc001xly.3	-	1	1762	c.1008G>A	c.(1006-1008)gtG>gtA	p.V336V	SLC8A3_uc001xlw.3_Silent_p.V336V|SLC8A3_uc001xlx.3_Silent_p.V336V|SLC8A3_uc001xlz.3_Silent_p.V336V|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	336					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.L335L(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TGGCCATCTCCACCAGCTGAT	0.507000														40			32		0	0	1	0	0
QRSL1	55278	broad.mit.edu	37	6	107102704	107102704	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:107102704C>T	uc003prm.3	+	7	1065	c.949C>T	c.(949-951)Ctt>Ttt	p.L317F		NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	Homo sapiens glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 (QRSL1), mRNA.	317					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		TGAAGTATCCCTTCCTCACAC	0.423000														38			35		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1208996	1208996	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:1208996G>A	uc003jbw.4	+	1	394	c.338G>A	c.(337-339)gGc>gAc	p.G113D		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	113					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCCCTGAAGGGCCTAGGTGAG	0.716000														16			20		0	0	1	0	0
FAM26F	441168	broad.mit.edu	37	6	116784702	116784702	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:116784702C>T	uc003pwv.3	+	2	877	c.782C>T	c.(781-783)tCa>tTa	p.S261L		NM_001010919	NP_001010919	Q5R3K3	FA26F_HUMAN	Homo sapiens family with sequence similarity 26, member F (FAM26F), mRNA.	261						integral to membrane				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		CAGCAAATTTCATCACTGTAT	0.393000														79			53		0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167654684	167654684	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:167654684G>A	uc001gem.3	+	2	322	c.135G>A	c.(133-135)agG>agA	p.R45R	RCSD1_uc010pli.2_Intron	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	45								p.R45R(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CAACCCGAAGGAAACCGCCCT	0.577000														45			17		0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46656706	46656706	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:46656706G>A	uc003oyj.3	+	0	1095	c.841G>A	c.(841-843)Gag>Aag	p.E281K	TDRD6_uc010jze.3_Missense_Mutation_p.E281K	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	281					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CCGCCTCTCCGAGAGCATGGC	0.647000														17			9		0	0	1	0	0
RAB20	55647	broad.mit.edu	37	13	111176261	111176261	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:111176261C>T	uc001vqy.3	-	1	661	c.456G>A	c.(454-456)gaG>gaA	p.E152E		NM_017817	NP_060287	Q9NX57	RAB20_HUMAN	Homo sapiens RAB20, member RAS oncogene family (RAB20), mRNA.	152					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			CCACCGCATCCTCCAGCTGCA	0.582000														39			15		0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256528	115256528	+	Missense_Mutation	SNP	T	A	A	rs121913255		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:115256528T>A	uc009wgu.3	-	2	437	c.183A>T	c.(181-183)caA>caT	p.Q61H		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(898)|p.Q61K(635)|p.Q61H(223)|p.Q61L(198)|p.Q61P(23)|p.Q61E(9)|p.Q61Q(6)|p.G60E(6)|p.Q61?(5)|p.Q61_E62>HK(2)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-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)		TGTACTCTTCTTGTCCAGCTG	0.463000	Q61H(ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61H(RD_SOFT_TISSUE)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				10			109		0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70981488	70981488	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:70981488T>G	uc003xym.3	-	1	810	c.608A>C	c.(607-609)cAc>cCc	p.H203P		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CAGAACGAAGTGCAGGTCCTC	0.602000														39			25		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5848555	5848555	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:5848555G>A	uc001qnm.2	-	12	1422	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	455						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						AGTTTTCCAGGAACATGGTAG	0.438000														4			3		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21008734	21008734	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:21008734C>T	uc010vbe.2	-	43	6472	c.6472G>A	c.(6472-6474)Gag>Aag	p.E2158K		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2158	AAA 3 (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)		CTCAGGAGCTCGATGGGTGGC	0.532000														54			26		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18807831	18807831	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:18807831G>A	uc001bax.3	+	0	408	c.356G>A	c.(355-357)aGa>aAa	p.R119K	KLHDC7A_uc009vpg.3_5'UTR	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	119						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)		AAGCCCCAGAGAAAAGGCTCA	0.627000														10			12		0	0	1	0	0
ZNF630	57232	broad.mit.edu	37	X	47918844	47918844	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:47918844G>A	uc004div.4	-	4	1239	c.987C>T	c.(985-987)tcC>tcT	p.S329S	ZNF630_uc010nhz.1_Intron|ZNF630_uc022bvr.1_Silent_p.S315S|ZNF630_uc022bvs.1_Silent_p.S329S	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	Homo sapiens zinc finger protein 630 (ZNF630), transcript variant 1, mRNA.	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						GTGACTTCCGGGAGAATGCTC	0.438000														9			19		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136593165	136593165	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:136593165C>T	uc003qgx.1	-	7	2264	c.2011G>A	c.(2011-2013)Gaa>Aaa	p.E671K	BCLAF1_uc003qgy.1_Missense_Mutation_p.E669K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.E669K|BCLAF1_uc003qgw.1_Missense_Mutation_p.E498K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	671					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)		ACTCTCTCTTCCCCTGCTAAA	0.289000														40			4		0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152748899	152748899	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:152748899C>T	uc010pdv.2	+	0	52	c.52C>T	c.(52-54)Ccc>Tcc	p.P18S		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	18	Pro-rich.				keratinization			p.P18T(2)		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)			caagtgcactcccaagtgccc	0.632000														15			20		0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117744354	117744354	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:117744354G>A	uc004eqp.2	+	27	3132	c.3069G>A	c.(3067-3069)gtG>gtA	p.V1023V	DOCK11_uc004eqq.2_Silent_p.V789V	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1023					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CCAGAAATGTGAACTATAGTT	0.423000														7			34		0	0	1	0	0
ISG20L2	81875	broad.mit.edu	37	1	156694030	156694030	+	Silent	SNP	G	A	A	rs141168468	byFrequency	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:156694030G>A	uc001fps.1	-	1	1119	c.858C>T	c.(856-858)atC>atT	p.I286I	ISG20L2_uc001fpt.1_Silent_p.I286I	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	Homo sapiens interferon stimulated exonuclease gene 20kDa-like 2 (ISG20L2), mRNA.	286	Exonuclease.				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGAGGGGGGGGATATGGGAGG	0.552000														73			26		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898195	36898195	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:36898195C>T	uc003cgj.3	-	11	3134	c.2886G>A	c.(2884-2886)agG>agA	p.R962R		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	962					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						TGACATGCTCCCTGCCCTTCT	0.473000														106			66		0	0	1	0	0
TMED4	222068	broad.mit.edu	37	7	44619144	44619144	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:44619144G>A	uc003tli.3	-	4	640	c.618C>T	c.(616-618)ctC>ctT	p.L206L	DQ574505_uc003tll.3_5'Flank	NM_182547	NP_872353	Q7Z7H5	TMED4_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 4 (TMED4), mRNA.	206					positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CAGTGAGGATGAGGATGACAG	0.532000														40			29		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179446723	179446723	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:179446723C>T	uc021vsy.1	-	263	58894	c.58669G>A	c.(58669-58671)Gaa>Aaa	p.E19557K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E13252K|TTN_uc021vta.1_Missense_Mutation_p.E13185K|TTN_uc021vtb.1_Missense_Mutation_p.E13060K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20484	Ig-like 109.						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)			AACTCATATTCGGTACCTTCT	0.453000														67			36		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163374645	163374645	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:163374645G>A	uc002uch.2	-	3	716	c.487C>T	c.(487-489)Cct>Tct	p.P163S	KCNH7_uc002uci.3_Missense_Mutation_p.P163S	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	163					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)	CTCAGACCAGGGAATTTGAAC	0.393000														47			31		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21854849	21854849	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:21854849C>T	uc010iuc.2	-	3	1035	c.577G>A	c.(577-579)Gga>Aga	p.G193R	CDH12_uc011cno.1_Intron|CDH12_uc003jgk.2_Missense_Mutation_p.G193R	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	193	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GCACTGTTTCCATAGGTCGGG	0.393000										HNSCC(59;0.17)				16			16		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834439	101834439	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:101834439C>T	uc003knn.3	-	0	282	c.110G>A	c.(109-111)gGa>gAa	p.G37E	SLCO6A1_uc003kno.3_Missense_Mutation_p.G37E|SLCO6A1_uc003knp.3_Missense_Mutation_p.G37E|SLCO6A1_uc003knq.3_Missense_Mutation_p.G37E	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	37						integral to membrane|plasma membrane	transporter activity	p.G37R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CTTCGGGGTTCCCTTGGCCCT	0.607000														92			52		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35974140	35974140	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:35974140T>C	uc004ddj.3	+	7	1303	c.1237T>C	c.(1237-1239)Ttt>Ctt	p.F413L	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	413										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						TTTACTACAGTTTGATCCAGG	0.368000														12			32		0	0	1	0	0
TCR-alpha	0	broad.mit.edu	37	14	22574012	22574012	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:22574012G>A	uc001wdb.2	+	1	269	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	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_Intron					SubName: Full=cDNA FLJ59026;																		AAATGGGGATGAAAAGAAGAA	0.443000														9			7		0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52902537	52902537	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:52902537T>C	uc010ugf.2	-	4	729	c.595A>G	c.(595-597)Act>Gct	p.T199A	FAM214A_uc002acg.4_Missense_Mutation_p.T192A|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Missense_Mutation_p.T104A	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	192																	TCAATTGGAGTCTGTGAAAAA	0.368000														30			58		0	0	1	0	0
OTX2	5015	broad.mit.edu	37	14	57269062	57269062	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:57269062C>T	uc001xcq.3	-	4	559	c.285G>A	c.(283-285)aaG>aaA	p.K95K	OTX2_uc001xcp.3_Silent_p.K87K|OTX2_uc021rtm.1_5'UTR|OTX2_uc010aou.3_Silent_p.K87K	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	87	Poly-Gln.				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CTCTTCGATTCTTAAACCATA	0.423000														61			33		0	0	1	0	0
MC2R	4158	broad.mit.edu	37	18	13884922	13884922	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:13884922A>G	uc002ksp.1	-	1	773	c.596T>C	c.(595-597)cTg>cCg	p.L199P	MC2R_uc021uhs.1_Missense_Mutation_p.L199P	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	199					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GGATCGAGCCAGCAGGAACAT	0.562000														29			23		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140740708	140740708	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140740708G>A	uc003ljs.2	+	0	1006	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc011dar.2_Missense_Mutation_p.E336K	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	339	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATCCAAGTTGAAATTCTTGA	0.443000														13			13		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886163	88886163	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:88886163C>T	uc003ydz.3	-	0	134	c.37G>A	c.(37-39)Gac>Aac	p.D13N		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	13										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						TTCTGCTTGTCTGCTTCCTCG	0.522000														28			20		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537775	55537775	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:55537775C>T	uc003xsd.1	+	3	1481	c.1333C>T	c.(1333-1335)Cgt>Tgt	p.R445C	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	445					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)			AGCAAAGCATCGTTTTTATAG	0.438000														37			18		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249272	52249272	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:52249272C>T	uc021uyn.1	-	2	1122	c.976G>A	c.(976-978)Gag>Aag	p.E326K	FPR1_uc002pxq.3_Missense_Mutation_p.E326K|FPR1_uc021uyo.1_Missense_Mutation_p.E326K	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	326					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GTTGAGTCCTCGGTCAGGGCC	0.572000														15			127		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70954610	70954610	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:70954610C>T	uc002ezr.3	-	45	7817	c.7666G>A	c.(7666-7668)Gaa>Aaa	p.E2556K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2557										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)				ttcttcccttcgtggtcctcc	0.637000														12			4		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10920116	10920116	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:10920116C>T	uc002yip.1	-	18	1506	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.E362K|TPTE_uc002yir.1_Missense_Mutation_p.E342K|TPTE_uc010gkv.1_Missense_Mutation_p.E242K	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	380	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E380K(1)|p.E362K(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGAAATTTTTCGCTGTGGGTT	0.393000														66			26		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676579	11676579	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:11676579C>T	uc021zzo.1	-	1	452	c.200G>A	c.(199-201)gGc>gAc	p.G67D	THSD7A_uc021zzn.1_Missense_Mutation_p.G67D	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	67	TSP type-1 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CATACATCGGCCCCATGGACC	0.448000										HNSCC(18;0.044)				69			22		0	0	1	0	0
NPTN	27020	broad.mit.edu	37	15	73862573	73862573	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:73862573C>A	uc002avs.3	-	5	1229	c.1032G>T	c.(1030-1032)ttG>ttT	p.L344F	NPTN_uc010bjc.3_Missense_Mutation_p.L344F|NPTN_uc002avt.3_Missense_Mutation_p.L228F|NPTN_uc002avr.3_Missense_Mutation_p.L228F|NPTN_uc010ula.2_Missense_Mutation_p.L139F	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	Homo sapiens neuroplastin (NPTN), transcript variant b, mRNA.	344					elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						CCAGAATTCCCAAGAAAGGCC	0.522000														65			29		1.08312e-15	1.09532e-15	1	1	0
TRIM29	23650	broad.mit.edu	37	11	120008109	120008109	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:120008109G>A	uc001pwz.3	-	0	755	c.631C>T	c.(631-633)Cac>Tac	p.H211Y	TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	211					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		AGCAGCTGGTGGTCTCGGAAG	0.642000														5			20		0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100405170	100405170	+	Silent	SNP	G	A	A	rs112613465		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:100405170G>A	uc003uwn.1	-	12	2642	c.2151C>T	c.(2149-2151)ctC>ctT	p.L717L	EPHB4_uc003uwm.1_Silent_p.L624L|EPHB4_uc010lhj.1_Silent_p.L717L	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	717	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCATGCCCACGAGCTGGATGA	0.617000														29			22		0	0	1	0	0
GPCPD1	56261	broad.mit.edu	37	20	5556488	5556488	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:5556488G>A	uc002wme.4	-	8	1055	c.842C>T	c.(841-843)tCc>tTc	p.S281F	GPCPD1_uc002wmd.4_Missense_Mutation_p.S100F	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	Homo sapiens glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) (GPCPD1), mRNA.	281					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TGTTTTCCGGGAATTTCTGCT	0.393000														36			23		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126412372	126412372	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:126412372C>T	uc003ifj.4	+	16	14395	c.14395C>T	c.(14395-14397)Cgc>Tgc	p.R4799C	FAT4_uc011cgp.2_Missense_Mutation_p.R3040C|FAT4_uc003ifi.1_Missense_Mutation_p.R2276C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4799					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						CAACACACCTCGCCCTAGAAA	0.532000														46			38		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38248494	38248494	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:38248494C>T	uc010abx.3	-	4	1480	c.1245G>A	c.(1243-1245)tgG>tgA	p.W415*	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Nonsense_Mutation_p.W415*|TRPC4_uc001uws.3_Nonsense_Mutation_p.W415*|TRPC4_uc010tey.2_Nonsense_Mutation_p.W415*|TRPC4_uc010abw.3_Nonsense_Mutation_p.W242*|TRPC4_uc010aby.3_Nonsense_Mutation_p.W415*	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	415					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TAATTTCTCCCCATATGAAGC	0.333000														10			22		0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21562382	21562382	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:21562382G>A	uc001bek.2	-	12	1602	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F	ECE1_uc001bem.2_Silent_p.F493F|ECE1_uc001bej.2_Silent_p.F497F|ECE1_uc001bei.2_Silent_p.F506F|ECE1_uc010odl.1_Silent_p.F509F|ECE1_uc009vqa.1_Silent_p.F509F	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	509					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GATCCATGATGAAGTTGGGGT	0.552000														22			98		0	0	1	0	0
CDYL	9425	broad.mit.edu	37	6	4892079	4892079	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:4892079C>T	uc003mwi.3	+	3	450	c.319C>T	c.(319-321)Cac>Tac	p.H107Y	CDYL_uc003mwj.3_Missense_Mutation_p.H53Y|CDYL_uc003mwk.3_Intron|CDYL_uc011dhx.2_5'UTR|CDYL_uc011dhy.2_5'UTR	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	Homo sapiens chromodomain protein, Y-like (CDYL), transcript variant 5, mRNA.	107	Chromo.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GGAATACATCCACGACTTCAA	0.502000														42			17		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99640587	99640587	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:99640587G>A	uc001yga.3	-	3	2853	c.2586C>T	c.(2584-2586)ccC>ccT	p.P862P	BCL11B_uc001ygb.3_Silent_p.P791P	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	862						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		AGACGCTGAAGGGCATCTGGC	0.587000			T	TLX3	T-ALL									16			12		0	0	1	0	0
CD164	8763	broad.mit.edu	37	6	109690059	109690059	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:109690059G>A	uc003pte.3	-	5	770	c.589C>T	c.(589-591)Ctg>Ttg	p.L197L	CD164_uc003ptd.3_Intron|CD164_uc003ptf.3_Silent_p.L178L|CD164_uc011eap.2_Intron|CD164_uc010kdn.3_Silent_p.L184L	NM_006016	NP_006007	Q04900	MUC24_HUMAN	Homo sapiens CD164 molecule, sialomucin (CD164), transcript variant 1, mRNA.	197	Required for endosomal and lysosomal localization (By similarity).				hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding			breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		TCTGTTTACAGAGTGTGGTAA	0.378000														17			4		0	0	1	0	0
EDDM3A	10876	broad.mit.edu	37	14	21216002	21216002	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:21216002G>A	uc021rom.1	+	0	263	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	EDDM3A_uc001vyc.3_Missense_Mutation_p.R88Q	NM_006683	NP_006674	Q14507	EP3A_HUMAN	Homo sapiens epididymal protein 3A (EDDM3A), mRNA.	88					sperm displacement	extracellular space		p.R88Q(2)|p.R88R(1)		breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GGGAGCGACCGATATAGAAAT	0.453000														21			19		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3686517	3686517	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:3686517T>C	uc002wja.3	-	2	580	c.580A>G	c.(580-582)Acc>Gcc	p.T194A	SIGLEC1_uc002wiz.4_Missense_Mutation_p.T194A|SIGLEC1_uc002wjc.3_Missense_Mutation_p.T105A	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	194	Ig-like C2-type 1.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCGACGCCGGTGGGCTCAAAC	0.642000														56			25		0	0	1	0	0
RPL39L	116832	broad.mit.edu	37	3	186839019	186839019	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:186839019G>A	uc003fre.1	-	2	425	c.70C>T	c.(70-72)Ccc>Tcc	p.P24S	RPL39L_uc021xim.1_Missense_Mutation_p.P24S	NM_052969	NP_443201	Q96EH5	RL39L_HUMAN	Homo sapiens ribosomal protein L39-like (RPL39L), mRNA.	24					spermatogenesis|translation	cytosolic large ribosomal subunit	structural constituent of ribosome					all_cancers(143;2.61e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.87e-18)	GBM - Glioblastoma multiforme(93;0.0745)		ATCCACTGGGGGATGGGACGA	0.448000														44			44		0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141335629	141335629	+	Silent	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:141335629A>G	uc003llx.3	-	0	2999	c.1788T>C	c.(1786-1788)aaT>aaC	p.N596N		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	596					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCCAAGCCATTGGGAGTCT	0.612000														26			27		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480350	73480350	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:73480350G>A	uc003xzb.3	+	1	969	c.381G>A	c.(379-381)ggG>ggA	p.G127G		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	127					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)			ATTACTGGGGGATTGATGAGA	0.448000														55			42		0	0	1	0	0
DGCR2	9993	broad.mit.edu	37	22	19036064	19036064	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:19036064G>A	uc002zoq.1	-	6	1143	c.895C>T	c.(895-897)Cat>Tat	p.H299Y	DGCR2_uc021wkx.1_Missense_Mutation_p.H296Y|DGCR2_uc021wky.1_Missense_Mutation_p.H258Y|DGCR2_uc021wkz.1_Missense_Mutation_p.H75Y|DGCR2_uc011agr.1_Missense_Mutation_p.H255Y|DGCR2_uc002zor.1_Missense_Mutation_p.H75Y|DGCR11_uc002zos.2_5'Flank	NM_005137	NP_005128	P98153	IDD_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA.	299	VWFC.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					TCCCCTCCATGGCAGGTGCAG	0.567000														197			137		0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42276716	42276716	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:42276716C>T	uc021sjp.1	-	18	2304	c.2304G>A	c.(2302-2304)atG>atA	p.M768I	PLA2G4E_uc010udc.2_Missense_Mutation_p.M211I|PLA2G4E_uc001zov.2_Missense_Mutation_p.M392I	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	756	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GGGGGTTCTCCATCAGGTAGC	0.507000														32			40		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47847571	47847572	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:47847571_47847572CC>TT	uc002zji.4	+	33	7463_7464	c.7356_7357CC>TT	c.(7354-7359)gacctt>gaTTtt	p.L2453F	PCNT_uc002zjj.3_Missense_Mutation_p.L2335F	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2453					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)					GGAGAGGGGACCTTCTGCAGGT	0.569000														40			30		0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	89985011	89985011	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:89985011C>T	uc001tbh.3	-	19	3594	c.3413G>A	c.(3412-3414)aGa>aAa	p.R1138K	ATP2B1_uc001tbg.3_3'UTR|ATP2B1_uc009zsr.3_Non-coding_Transcript|ATP2B1_uc001tbf.3_Missense_Mutation_p.R772K	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	1176					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AATCGAACTTCTTGATTCCGG	0.373000														28			22		0	0	1	0	0
STX4	6810	broad.mit.edu	37	16	31045633	31045633	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:31045633C>T	uc002eal.3	+	2	443	c.219C>T	c.(217-219)ccC>ccT	p.P73P	STX4_uc002eak.3_Silent_p.P71P|STX4_uc002eam.3_5'UTR	NM_004604	NP_004595	Q12846	STX4_HUMAN	Homo sapiens syntaxin 4 (STX4), mRNA.	73					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						TGGCCACGCCCCTTCCCGAGG	0.602000														43			22		0	0	1	0	0
MYD88	4615	broad.mit.edu	37	3	38180251	38180252	+	Missense_Mutation	DNP	TC	CA	CA			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:38180251_38180252TC>CA	uc003chx.3	+	0	283_284	c.99_100TC>CA	c.(97-102)cttccc>ctCAcc	p.P34T	ACAA1_uc003cht.3_5'Flank|ACAA1_uc003chu.3_5'Flank|MYD88_uc011ayh.2_Missense_Mutation_p.P34T|MYD88_uc011ayi.2_Missense_Mutation_p.P34T|MYD88_uc011ayj.2_Missense_Mutation_p.P34T|MYD88_uc011ayk.2_Missense_Mutation_p.P34T|MYD88_uc011ayl.2_Missense_Mutation_p.P34T	NM_001172567	NP_001166038	Q99836	MYD88_HUMAN	Homo sapiens myeloid differentiation primary response gene (88) (MYD88), transcript variant 1, mRNA.	21					3'-UTR-mediated mRNA stabilization|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	TIR domain binding|death receptor binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CATCCTCCCTTCCCCTGGCTGC	0.703000			Mis		ABC-DLBCL									13			10		0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230923874	230923874	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:230923874G>A	uc002vqd.2	-	1	654	c.195C>T	c.(193-195)ttC>ttT	p.F65F	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.F65F|SLC16A14_uc002vqf.3_Silent_p.F65F	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	65						integral to membrane|plasma membrane	symporter activity	p.E64*(1)		NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GGCTCTGGTGGAATTCTTCCA	0.557000														43			26		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106993902	106993902	+	RNA	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:106993902G>A	uc021ser.1	-	233		c.9352C>T								Parts of antibodies, mostly variable regions.																		TCTGGAGATGGTGAATCGGCC	0.512000														115			7		0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73987670	73987670	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:73987670C>T	uc021rwe.1	-	3	1303	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	HEATR4_uc021rwf.1_Missense_Mutation_p.E272K|HEATR4_uc010tub.1_Missense_Mutation_p.E319K	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CTCGTCTTTTCATGGATATCC	0.517000														38			29		0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110230181	110230181	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:110230181G>A	uc001tpj.2	-	10	1973	c.1878C>T	c.(1876-1878)atC>atT	p.I626I	TRPV4_uc001tpg.2_Silent_p.I592I|TRPV4_uc021rdp.1_Silent_p.I566I|TRPV4_uc001tph.2_Silent_p.I579I|TRPV4_uc001tpi.2_Silent_p.I519I|TRPV4_uc001tpk.2_Silent_p.I626I	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	626					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding	p.I626I(6)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AAGCGTAGCCGATCATGAAGA	0.532000														27			15		0	0	1	0	0
MFNG	4242	broad.mit.edu	37	22	37882171	37882171	+	Silent	SNP	G	A	A	rs77701703	byFrequency	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:37882171G>A	uc003ass.2	-	0	308	c.45C>T	c.(43-45)acC>acT	p.T15T	MFNG_uc011anj.2_Silent_p.T15T|MFNG_uc011ani.2_5'UTR|CARD10_uc003ast.1_Intron	NM_002405	NP_002396	O00587	MFNG_HUMAN	Homo sapiens MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (MFNG), transcript variant 1, mRNA.	15					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					TGCACAGGAGGGTGAGGAGGG	0.692000														19			11		0	0	1	0	0
SLC2A11	66035	broad.mit.edu	37	22	24226883	24226883	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:24226883C>T	uc011ajc.1	+	10	1848	c.1358C>T	c.(1357-1359)tCt>tTt	p.S453F	SLC2A11_uc002zym.4_Silent_p.V453V|SLC2A11_uc002zyn.4_Silent_p.V446V|SLC2A11_uc002zyo.4_Non-coding_Transcript|SLC2A11_uc002zyp.4_Silent_p.V449V			Q9BYW1	GTR11_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 11 (SLC2A11), transcript variant 1, mRNA.	0						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GTGTCTGTGTCTGTGGGGCCA	0.527000														83			63		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10447033	10447033	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:10447033G>A	uc010coi.3	-	7	864	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R246C|MYH2_uc010coj.3_Missense_Mutation_p.R246C	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	246	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTTACAAAGCGAGAGGAGTTG	0.448000														32			18		0	0	1	0	0
MAP3K7	6885	broad.mit.edu	37	6	91228254	91228254	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:91228254C>T	uc003pnz.1	-	15	1857	c.1552G>A	c.(1552-1554)Gaa>Aaa	p.E518K	MAP3K7_uc003pny.1_Missense_Mutation_p.E55K|MAP3K7_uc003pob.1_Missense_Mutation_p.E491K|MAP3K7_uc003poa.1_Intron|MAP3K7_uc003poc.1_Intron	NM_145331	NP_663304	O43318	M3K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA.	518					I-kappaB phosphorylation|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GCCATAGATTCTTTGGAGTTT	0.318000														15			12		0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108618589	108618589	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:108618589C>T	uc001tms.3	+	4	1500	c.756C>T	c.(754-756)gcC>gcT	p.A252A	WSCD2_uc001tmt.3_Silent_p.A252A|WSCD2_uc001tmu.3_5'UTR	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	252	WSC 2.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGACAGCTGCCATGCTGAACA	0.582000														35			28		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125072502	125072502	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:125072502C>T	uc003yqw.3	+	22	3162	c.2956C>T	c.(2956-2958)Cgg>Tgg	p.R986W	AK057332_uc003yqy.1_Non-coding_Transcript	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	986						integral to membrane		p.I985V(1)		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)			TGCCAACATTCGGCCGGTGCT	0.587000														30			36		0	0	1	0	0
LOC387647	387647	broad.mit.edu	37	10	29710383	29710383	+	RNA	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:29710383C>T	uc001ium.2	+	2		c.1150C>T			LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|LOC387647_uc001iun.2_Non-coding_Transcript					Homo sapiens patched domain containing 3 pseudogene (LOC387647), non-coding RNA.																		TCCTGGCCTCCTTGTAAACCC	0.507000														4			10		0	0	1	0	0
EMB	133418	broad.mit.edu	37	5	49706744	49706744	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:49706744C>T	uc003jom.3	-	3	688	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	EMB_uc003jol.3_Missense_Mutation_p.E78K|EMB_uc011cpy.2_Missense_Mutation_p.E97K	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	147	Ig-like V-type 1.					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)				TGTTCCTTTTCCTCTCGAAAG	0.308000														16			11		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1444012	1444013	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:1444012_1444013GG>AA	uc003boz.3	+	21	3095_3096	c.2828_2829GG>AA	c.(2827-2829)cgg>cAA	p.R943Q	CNTN6_uc011asj.2_Missense_Mutation_p.R871Q|CNTN6_uc003bpa.3_Missense_Mutation_p.R943Q	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	943	Fibronectin type-III 4.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ATTCTGTACCGGCAAAACAGAC	0.351000														23			12		0	0	1	0	0
FAM100B	283991	broad.mit.edu	37	17	74261619	74261619	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:74261619G>A	uc010wsy.1	+	0	334	c.33G>A	c.(31-33)caG>caA	p.Q11Q		NM_182565	NP_872371	Q8IYN6	F100B_HUMAN	Homo sapiens family with sequence similarity 100, member B (FAM100B), mRNA.	11										central_nervous_system(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(166;0.187)			TGCGGCACCAGGTCATGATCA	0.746000														10			5		0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74729419	74729419	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:74729419G>A	uc002fdb.2	-	1	678	c.237C>T	c.(235-237)ttC>ttT	p.F79F	MLKL_uc002fdc.2_Silent_p.F79F	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	79							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						ATCTATTGCTGAACTTTTCTA	0.493000														50			51		0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433091	55433091	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:55433091G>A	uc010rik.2	+	0	449	c.449G>A	c.(448-450)gGa>gAa	p.G150E		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGGGTGGGGGGATTTATGCAC	0.468000														48			35		0	0	1	0	0
AWAT1	158833	broad.mit.edu	37	X	69459767	69459767	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:69459767G>A	uc004dxy.3	+	5	856	c.815G>A	c.(814-816)aGg>aAg	p.R272K		NM_001013579	NP_001013597	Q58HT5	AWAT1_HUMAN	Homo sapiens acyl-CoA wax alcohol acyltransferase 1 (AWAT1), mRNA.	272					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CCATACTCCAGGCCTATTGTC	0.547000														3			23		0	0	1	0	0
PLSCR4	57088	broad.mit.edu	37	3	145914451	145914451	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:145914451T>C	uc010huy.3	-	6	1083	c.754A>G	c.(754-756)Acc>Gcc	p.T252A	PLSCR4_uc010huz.3_Missense_Mutation_p.T252A|PLSCR4_uc003evt.4_Missense_Mutation_p.T252A|PLSCR4_uc010hva.3_Missense_Mutation_p.T162A|PLSCR4_uc003evu.4_Missense_Mutation_p.T147A	NM_020353	NP_065086	Q9NRQ2	PLS4_HUMAN	Homo sapiens phospholipid scramblase 4 (PLSCR4), transcript variant 2, mRNA.	252					blood coagulation|phospholipid scrambling	integral to membrane	SH3 domain binding|calcium ion binding|phospholipid scramblase activity			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						CAGCCATAGGTTGAGCATGGC	0.408000														33			24		0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24845860	24845860	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:24845860C>T	uc001wpc.3	+	8	2738	c.2417C>T	c.(2416-2418)tCt>tTt	p.S806F	NFATC4_uc010alr.3_Intron|NFATC4_uc010tok.2_Missense_Mutation_p.S869F|NFATC4_uc010tol.2_Missense_Mutation_p.S869F|NFATC4_uc010too.2_Intron|NFATC4_uc010tom.2_Missense_Mutation_p.S819F|NFATC4_uc010ton.2_Missense_Mutation_p.S819F|NFATC4_uc010toq.2_Intron|NFATC4_uc010alt.3_Missense_Mutation_p.S838F|NFATC4_uc010top.2_Missense_Mutation_p.S838F|NFATC4_uc010tor.2_Intron|NFATC4_uc010tos.2_Missense_Mutation_p.S736F|NFATC4_uc010tot.2_Missense_Mutation_p.S794F|NFATC4_uc010tou.2_Missense_Mutation_p.S736F|NFATC4_uc010tov.2_Intron|NFATC4_uc010tow.2_Intron|NFATC4_uc010alv.3_Missense_Mutation_p.S794F|NFATC4_uc010tox.2_Missense_Mutation_p.S736F|NFATC4_uc001wpd.3_Missense_Mutation_p.S341F|NFATC4_uc010toy.2_Intron|NFATC4_uc010toz.2_Missense_Mutation_p.S341F|NFATC4_uc010tpa.2_Missense_Mutation_p.S94F|NFATC4_uc010tpb.2_Missense_Mutation_p.S94F	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	806	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTGCCATTCTCTCCGCCAGCC	0.642000														52			41		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117718532	117718532	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:117718532C>T	uc001twn.2	-	7	2233	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	NOS1_uc021ren.1_Missense_Mutation_p.E172K|NOS1_uc021reo.1_Missense_Mutation_p.E172K|NOS1_uc001twm.2_Missense_Mutation_p.E508K	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	508					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)	GCTCGCACCTCTGTGAACTGC	0.592000														46			28		0	0	1	0	0
SRD5A2	6716	broad.mit.edu	37	2	31751289	31751290	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:31751289_31751290CT>TC	uc002rnw.1	-	5	809_810	c.738_739AG>GA	c.(736-741)aaagcc>aaGAcc	p.A247T		NM_000348	NP_000339	P31213	S5A2_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) (SRD5A2), mRNA.	248					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GGAATAAGGGCTTTCCGAGATT	0.391000														4			5		0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231222634	231222634	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:231222634C>T	uc010fxm.1	+	2	313	c.222C>T	c.(220-222)ttC>ttT	p.F74F	SP140_uc010zma.1_Non-coding_Transcript|SP140L_uc010fxn.2_5'UTR	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	74	HSR.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CATTTCCATTCCTTGAGGGCC	0.373000														76			61		0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39856456	39856456	+	Splice_Site	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:39856456T>C	uc003oow.3	+	17	2200	c.2061_splice	c.e17-1	p.K687_splice	DAAM2_uc003oox.3_Splice_Site_p.K687_splice|AX747174_uc003ooz.1_5'Flank	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.	687	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TTGCCTTAGGTTGAAGCTTTC	0.542000														36			18		0	0	1	0	0
P2RX5	5026	broad.mit.edu	37	17	3595052	3595052	+	Silent	SNP	G	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:3595052G>C	uc002fwi.3	-	1	573	c.174C>G	c.(172-174)gtC>gtG	p.V58V	P2RX5_uc002fwd.3_Non-coding_Transcript|P2RX5_uc010vrx.2_Silent_p.V22V|P2RX5_uc002fwk.3_Silent_p.V58V|P2RX5_uc002fwj.3_Silent_p.V58V|P2RX5_uc002fwl.3_Silent_p.V58V|P2RX5_uc002fwm.2_Silent_p.V58V	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 5 (P2RX5), transcript variant 1, mRNA.	58					nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GGGAGGTGTCGACGTCTTGGT	0.602000														79			46		0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44672663	44672663	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:44672663C>G	uc003cnm.3	+	2	706	c.500C>G	c.(499-501)cCg>cGg	p.P167R	ZNF197_uc003cnn.3_Missense_Mutation_p.P167R|ZNF197_uc003cno.3_Non-coding_Transcript|ZNF197_uc003cnp.3_Missense_Mutation_p.P167R	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	167					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P167P(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GAAATTTGCCCGCATCCTCCT	0.527000														42			34		0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799163	5799163	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:5799163C>T	uc010qzn.2	-	0	735	c.702G>A	c.(700-702)gcG>gcA	p.A234A	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A234A(2)|p.A234V(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AGAGGCTGATCGCTGCCTTGA	0.438000														32			26		0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14014015	14014015	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:14014015G>A	uc002dce.2	+	1	1	c.-8_splice	c.e1-1		ERCC4_uc010bva.3_Splice_Site	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.						double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CGACCCGGAAGAGCTTCCATG	0.647000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum		OREG0023622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			15		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645698	51645699	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:51645698_51645699GG>AA	uc002pvv.1	+	0	141_142	c.72_73GG>AA	c.(70-75)aaggat>aaAAat	p.D25N	SIGLEC7_uc002pvw.1_Missense_Mutation_p.D25N|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Missense_Mutation_p.D25N	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	25					cell adhesion	integral to plasma membrane	receptor activity|sugar binding	p.K24N(2)		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)		GTAACCGGAAGGATTACTCGCT	0.609000														40			5		0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107361665	107361665	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:107361665C>T	uc011lvp.2	-	0	30	c.30G>A	c.(28-30)gtG>gtA	p.V10V		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GAAAAAATTCCACCAGAATGG	0.378000														5			14		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20489448	20489448	+	RNA	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:20489448G>A	uc001ytf.1	+	2		c.436G>A								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		ATCACCAGTGGAAAACACAAC	0.413000														69			15		0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245168	59245168	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:59245168G>A	uc001nnz.1	+	0	266	c.266G>A	c.(265-267)aGa>aAa	p.R89K		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGTCTGAAAGAAAGACCATC	0.433000														46			42		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364321	22364321	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	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														5			45		0	0	1	0	0
FKBP9	11328	broad.mit.edu	37	7	33014864	33014864	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:33014864C>T	uc011kal.2	+	3	778	c.597C>T	c.(595-597)gaC>gaT	p.D199D	AVL9_uc011kai.2_Intron|FKBP9_uc011kak.1_Non-coding_Transcript|FKBP9_uc003tdh.3_Silent_p.D146D|FKBP9_uc010kwm.3_Silent_p.D53D	NM_007270	NP_009201	O95302	FKBP9_HUMAN	Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA.	146	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			ATTCTGAAGACCAGGTTCAGA	0.463000														33			25		0	0	1	0	0
GCHFR	2644	broad.mit.edu	37	15	41059480	41059481	+	Missense_Mutation	DNP	GG	AA	AA	rs149719928	byFrequency	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:41059480_41059481GG>AA	uc001zmr.1	+	2	282_283	c.188_189GG>AA	c.(187-189)agg>aAA	p.R63K	GCHFR_uc010ucr.1_Missense_Mutation_p.R52K|C15orf62_uc010bby.3_5'Flank	NM_005258	NP_005249	P30047	GFRP_HUMAN	Homo sapiens GTP cyclohydrolase I feedback regulator (GCHFR), mRNA.	63					negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane		p.R62H(3)		endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CTGGAACGCAGGGGCTTCCGTG	0.599000														95			38		0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202533586	202533586	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:202533586C>T	uc001gya.2	+	20	2818	c.2668C>T	c.(2668-2670)Ctg>Ttg	p.L890L	PPP1R12B_uc001gyb.1_Silent_p.L116L|PPP1R12B_uc001gyc.1_Silent_p.L116L|PPP1R12B_uc021pho.1_Silent_p.L94L	NM_002481	NP_002472	O60237	MYPT2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12B (PPP1R12B), transcript variant 1, mRNA.	890					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TGAGAGTGCTCTGACTGAAAA	0.473000														48			16		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135756462	135756462	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:135756462G>A	uc002tue.1	-	4	451	c.420C>T	c.(418-420)ccC>ccT	p.P140P	YSK4_uc010fne.1_Silent_p.P112P|YSK4_uc002tuf.1_Silent_p.P140P|YSK4_uc010fnc.1_Silent_p.P140P|YSK4_uc010fnd.1_Intron|YSK4_uc010zbg.1_Silent_p.P140P|YSK4_uc002tui.4_Silent_p.P157P	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	140							ATP binding|protein serine/threonine kinase activity	p.P140P(1)		breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCAAAACTAAGGGCCGCATGG	0.433000														25			18		0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11094906	11094906	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:11094906G>A	uc001aru.3	-	7	1098	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W		NM_006610	NP_006601	O00187	MASP2_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.	356	Sushi 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GGCATTGGCCGGTCCCAAGAT	0.483000														14			9		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13717507	13717507	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:13717507T>A	uc003jfd.2	-	72	12664	c.12622A>T	c.(12622-12624)Atc>Ttc	p.I4208F	DNAH5_uc003jfc.2_Missense_Mutation_p.I376F	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4208	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)					TCGTAGGGGATATTCCACCCC	0.542000									Kartagener syndrome					19			10		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39025973	39025973	+	Silent	SNP	T	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:39025973T>A	uc002oit.3	+	80	11587	c.11457T>A	c.(11455-11457)ctT>ctA	p.L3819L	RYR1_uc002oiu.3_Silent_p.L3814L|RYR1_uc002oiv.1_Silent_p.L734L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3819					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)	TGGATTATCTTAAGGACAAGA	0.498000														81			24		0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71255479	71255479	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:71255479C>T	uc011cas.2	+	2	235	c.154C>T	c.(154-156)Cca>Tca	p.P52S	SMR3A_uc003hfh.3_Missense_Mutation_p.P52S	NM_006685	NP_006676	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3B (SMR3B), mRNA.	56	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				ACCTCCTCCTCCACCCTATGG	0.602000														48			24		0	0	1	0	0
NMS	129521	broad.mit.edu	37	2	101099714	101099714	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:101099714G>A	uc002tan.1	+	10	457	c.450_splice	c.e10-1	p.Q150_splice		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	Homo sapiens neuromedin S (NMS), mRNA.	150					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CTTTTTTTAGGATTCAGTGGT	0.338000														12			9		0	0	1	0	0
ARHGDIB	397	broad.mit.edu	37	12	15102817	15102817	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:15102817G>A	uc001rcq.1	-	2	288	c.184C>T	c.(184-186)Ccg>Tcg	p.P62S		NM_001175	NP_001166	P52566	GDIR2_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) beta (ARHGDIB), mRNA.	62					Rho protein signal transduction|actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity	p.P62L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						GGGGCTTTCGGATCTGCAGGA	0.483000														62			40		0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173523928	173523928	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:173523928G>A	uc001giz.2	-	10	1664	c.1241C>T	c.(1240-1242)tCa>tTa	p.S414L	SLC9C2_uc009wwe.2_Intron|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	414					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TGTCAATAATGATATTACTTG	0.308000														109			40		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18876454	18876454	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:18876454C>T	uc021qvx.1	-	3	349	c.158G>A	c.(157-159)gGa>gAa	p.G53E	PLCZ1_uc001rdv.4_5'UTR|PLCZ1_uc001rdw.4_Intron	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	53	EF-hand.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GGTGATTCTTCCTTGTTTCAG	0.308000														30			19		0	0	1	0	0
MMP14	4323	broad.mit.edu	37	14	23314938	23314938	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:23314938G>A	uc001whc.3	+	9	1673	c.1439G>A	c.(1438-1440)gGg>gAg	p.G480E		NM_004995	NP_004986	P50281	MMP14_HUMAN	Homo sapiens matrix metallopeptidase 14 (membrane-inserted) (MMP14), mRNA.	480	Hemopexin-like 4.					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TTCTACAAGGGGAACAAATAC	0.542000														59			36		0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785534	1785534	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:1785534G>A	uc002ltw.3	-	25	3561	c.3327C>T	c.(3325-3327)agC>agT	p.S1109S	ATP8B3_uc002ltv.3_Silent_p.S1072S|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	1109					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCGCTGAAGCTGGCGGGTC	0.627000														6			43		0	0	1	0	0
C20orf151	140893	broad.mit.edu	37	20	60986024	60986024	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:60986024C>T	uc002ycw.2	-	13	2102	c.1905G>A	c.(1903-1905)agG>agA	p.R635R		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA.	635										large_intestine(3)|lung(3)|prostate(1)|skin(4)|stomach(1)	12	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)			CTGTCAGTTTCCTTCTCCCTC	0.637000														70			32		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525995	176525995	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:176525995C>T	uc001gkz.3	+	1	1701	c.537C>T	c.(535-537)acC>acT	p.T179T	PAPPA2_uc001gky.1_Silent_p.T179T|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	179					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						TTTTCACAACCCTGAACGAAC	0.577000														60			74		0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186332546	186332546	+	Silent	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:186332546T>C	uc001grv.3	-	4	756	c.459A>G	c.(457-459)aaA>aaG	p.K153K	MIR548F1_uc021pgf.1_Intron|TPR_uc010pop.2_Silent_p.K229K	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	153					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TATTGCTTTCTTTAAGTTTTT	0.313000			T	NTRK1	papillary thyroid									21			34		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46243434	46243434	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:46243434T>A	uc001ros.1	+	13	1787	c.1787T>A	c.(1786-1788)gTg>gAg	p.V596E	ARID2_uc001ror.3_Missense_Mutation_p.V596E|ARID2_uc009zkg.1_Missense_Mutation_p.V52E|ARID2_uc009zkh.1_Missense_Mutation_p.V223E|ARID2_uc001rou.1_5'Flank	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	596					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CATATTCATGTGGTAGGAGTA	0.418000			"""N, S, F"""		hepatocellular carcinoma									63			36		0	0	1	0	0
EDDM3A	10876	broad.mit.edu	37	14	21215878	21215878	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:21215878G>A	uc021rom.1	+	0	139	c.139G>A	c.(139-141)Gag>Aag	p.E47K	EDDM3A_uc001vyc.3_Missense_Mutation_p.E47K	NM_006683	NP_006674	Q14507	EP3A_HUMAN	Homo sapiens epididymal protein 3A (EDDM3A), mRNA.	47					sperm displacement	extracellular space				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						AGAATTCAAAGAGTACAAATG	0.383000														37			25		0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220472776	220472776	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:220472776C>T	uc002vml.3	+	13	1303	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	STK11IP_uc010zll.2_Silent_p.F377F|STK11IP_uc002vmm.1_Silent_p.F409F	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	420					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)		TAGGATGGTTCGTGCAGCAGC	0.627000														25			12		0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100235037	100235037	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:100235037C>T	uc003hus.4	-	5	853	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	ADH1B_uc003hut.4_Missense_Mutation_p.E217K|ADH1B_uc011ceh.2_Missense_Mutation_p.E102K|ADH1B_uc011cei.1_Missense_Mutation_p.E217K	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	257					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCAGTCATTTCCTTTAGCACT	0.463000														121			101		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182394310	182394310	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:182394310G>A	uc002unu.3	+	22	3236	c.2473G>A	c.(2473-2475)Gaa>Aaa	p.E825K	ITGA4_uc002unv.3_Missense_Mutation_p.E70K	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	825					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGTTAGTGTGGAAATAATGGT	0.318000														22			17		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38904762	38904762	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:38904762T>A	uc021wvy.1	-	23	4179	c.3980A>T	c.(3979-3981)gAa>gTa	p.E1327V	SCN11A_uc003cis.1_5'UTR	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1327					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTTCTGTTCTTCTGTCATAAA	0.328000														26			14		0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57983038	57983038	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:57983038C>T	uc010rkc.2	+	0	822	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TGTACTTTTTCCCCTCCTCCA	0.473000														42			41		0	0	1	0	0
MRPL2	51069	broad.mit.edu	37	6	43023662	43023662	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:43023662G>A	uc003ots.1	-	4	727	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	CUL7_uc003otq.3_5'Flank|CUL7_uc011dvb.2_5'Flank|KLC4_uc003otr.1_Intron|MRPL2_uc011dvc.2_3'UTR	NM_015950	NP_057034	Q5T653	RM02_HUMAN	Homo sapiens mitochondrial ribosomal protein L2 (MRPL2), nuclear gene encoding mitochondrial protein, mRNA.	202					translation	mitochondrion|ribosome	structural constituent of ribosome	p.R202R(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		TGGGCACCCCGGCCTGGCTCA	0.552000														21			11		0	0	1	0	0
LECT1	11061	broad.mit.edu	37	13	53313178	53313178	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:53313178C>T	uc001vhf.2	-	1	312	c.201G>A	c.(199-201)ggG>ggA	p.G67G	LECT1_uc001vhg.2_Silent_p.G67G|LECT1_uc001vhh.2_Silent_p.G94G	NM_007015	NP_008946	O75829	LECT1_HUMAN	Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA.	67					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)		GACTGTCGCTCCCCTTCCAGA	0.721000														11			6		0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294385	124294385	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:124294385G>A	uc010sak.2	-	0	383	c.383C>T	c.(382-384)cCc>cTc	p.P128L		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		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;0.0279)		GTAGAGCAGGGGGTTGCAGAT	0.493000														5			22		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93778875	93778875	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:93778875G>A	uc001pep.2	+	1	364	c.207G>A	c.(205-207)agG>agA	p.R69R		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	69	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.R69R(2)		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)				GGCCCAACAGGATAGGCAGTA	0.423000														8			4		0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34171101	34171101	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:34171101C>T	uc002hkd.3	+	12	1113	c.1027C>T	c.(1027-1029)Cgt>Tgt	p.R343C	TAF15_uc010ctw.1_Non-coding_Transcript|TAF15_uc002hkc.3_Missense_Mutation_p.R340C	NM_139215	NP_631961	Q92804	RBP56_HUMAN	Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.	343	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ATATAGAGGTCGTGGAGGCTT	0.488000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""									77			46		0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18255881	18255881	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:18255881C>T	uc002nhz.4	+	22	2794	c.2794C>T	c.(2794-2796)Cgt>Tgt	p.R932C		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	932	Ser-rich.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCCGTCGTCCCGTGACTCTTC	0.672000														72			20		0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54849322	54849322	+	Silent	SNP	G	A	A	rs146578434		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:54849322G>A	uc002qfj.3	-	3	597	c.540C>T	c.(538-540)ttC>ttT	p.F180F	LILRA4_uc002qfi.3_Silent_p.F114F	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	180	Ig-like C2-type 2.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GGCCCATGGGGAACAGGGCCT	0.567000														44			30		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55144654	55144654	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:55144654C>T	uc002qgj.3	+	7	1486	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.F382F|LILRB1_uc002qgk.3_Silent_p.F382F|LILRB1_uc002qgm.3_Silent_p.F382F|LILRB1_uc010erq.3_Silent_p.F382F|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	382	Ig-like C2-type 4.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGGCTGAATTCCCCATGGGTC	0.562000										HNSCC(37;0.09)				120			44		0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102028470	102028470	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:102028470C>T	uc021sdx.1	+	0	783	c.637C>T	c.(637-639)Ccc>Tcc	p.P213S	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	187					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CACGGACTCTCCCTACATCAT	0.637000														70			43		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29102103	29102103	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:29102103C>T	uc002kwu.4	+	5	769	c.581C>T	c.(580-582)tCg>tTg	p.S194L		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	194	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.S194S(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ACCCTGAATTCGAAAATTTCC	0.363000														24			13		0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100350249	100350249	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:100350249C>T	uc001dsi.1	+	19	3071	c.2671C>T	c.(2671-2673)Cct>Tct	p.P891S	AGL_uc001dsj.1_Missense_Mutation_p.P891S|AGL_uc001dsk.1_Missense_Mutation_p.P891S|AGL_uc001dsl.1_Missense_Mutation_p.P891S|AGL_uc001dsm.1_Missense_Mutation_p.P875S|AGL_uc001dsn.1_Missense_Mutation_p.P874S	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	891					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ATTAAAAATTCCTTTTGCTTC	0.378000														4			35		0	0	1	0	0
MRPS31	10240	broad.mit.edu	37	13	41345349	41345349	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:41345349C>T	uc001uxm.4	-	1	1	c.-74_splice	c.e1-1			NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.							mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GCCCTCTCTTCCGCTTCCGGC	0.637000														7			16		0	0	1	0	0
IGBP1	3476	broad.mit.edu	37	X	69385761	69385761	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:69385761G>A	uc004dxv.3	+	5	1449	c.950G>A	c.(949-951)aGa>aAa	p.R317K	IGBP1_uc004dxw.3_Missense_Mutation_p.R317K	NM_001551	NP_001542	P78318	IGBP1_HUMAN	Homo sapiens immunoglobulin (CD79A) binding protein 1 (IGBP1), mRNA.	317					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						ACACTCCACAGAGCCCGGGAG	0.493000														1			10		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170097679	170097679	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:170097679C>T	uc002ues.3	-	24	4077	c.3864G>A	c.(3862-3864)tgG>tgA	p.W1288*	LRP2_uc010zdf.1_Nonsense_Mutation_p.W1151*	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1288	LDL-receptor class A 14.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GATCACAGAGCCATGCCCTGT	0.527000														62			30		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72198810	72198810	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:72198810C>T	uc002fcc.4	-	2	190	c.18G>A	c.(16-18)ggG>ggA	p.G6G	PMFBP1_uc002fcd.3_Silent_p.G6G|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_5'UTR	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	6								p.A5A(1)		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)				TGTCTCTCTCCCCCGCCTAGG	0.443000														20			14		0	0	1	0	0
REM1	28954	broad.mit.edu	37	20	30065650	30065650	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:30065650C>T	uc002wwa.3	+	2	644	c.360C>T	c.(358-360)acC>acT	p.T120T		NM_014012	NP_054731	O75628	REM1_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.	120					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity|calmodulin binding			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ATGAGAGGACCCTCACGGTGG	0.582000														12			11		0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161130677	161130677	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:161130677C>T	uc010pkc.2	+	2	624	c.247C>T	c.(247-249)Cga>Tga	p.R83*	USP21_uc010pkd.2_Nonsense_Mutation_p.R83*	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	83					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L82I(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGGCCCCCTTCGAGCAGATCA	0.637000														37			42		0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159557917	159557917	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:159557917C>T	uc001ftv.3	+	1	187	c.91C>T	c.(91-93)Cct>Tct	p.P31S		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	31	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	p.P31S(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GTTTGTATTTCCTAGAGAATC	0.408000														51			56		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565085	58565085	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:58565085G>A	uc002qrc.1	+	5	1140	c.893G>A	c.(892-894)gGg>gAg	p.G298E		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	298					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)		GCCGACTGTGGGATGGTCTTC	0.632000														7			67		0	0	1	0	0
HRH4	59340	broad.mit.edu	37	18	22056887	22056887	+	Silent	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:22056887A>G	uc002kvi.3	+	2	634	c.534A>G	c.(532-534)acA>acG	p.T178T	HRH4_uc010xbd.2_3'UTR|HRH4_uc010dlx.3_Silent_p.T90T	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	Homo sapiens histamine receptor H4 (HRH4), transcript variant 1, mRNA.	178						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TTGCCATCACATCATTCTTGG	0.413000														62			46		0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799718	5799718	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:5799718C>T	uc010qzn.2	-	0	180	c.147G>A	c.(145-147)ggG>ggA	p.G49G	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GACCAAGATTCCCCACAAGGA	0.423000														68			50		0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38568323	38568323	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:38568323C>T	uc002yvz.3	+	41	5670	c.5565C>T	c.(5563-5565)ttC>ttT	p.F1855F	TTC3_uc002ywa.3_Silent_p.F1855F|TTC3_uc002ywb.3_Silent_p.F1855F|TTC3_uc010gnf.3_Silent_p.F1620F|TTC3_uc002ywc.3_Silent_p.F1545F	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1855					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)				CAGTGGTATTCCCATGTTACA	0.433000														21			16		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126754902	126754903	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:126754902_126754903CC>TT	uc003kuh.4	+	11	1758_1759	c.1396_1397CC>TT	c.(1396-1398)cct>TTt	p.P466F	MEGF10_uc010jdc.1_Missense_Mutation_p.P466F|MEGF10_uc010jdd.1_Missense_Mutation_p.P466F|MEGF10_uc003kui.4_Missense_Mutation_p.P466F	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	466	EGF-like 8.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGTCTGCTCTCCTGTGGACGGG	0.450000														57			40		0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52556605	52556605	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:52556605G>A	uc002lfr.3	+	5	861	c.618G>A	c.(616-618)ttG>ttA	p.L206L		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	206					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		CTGGAAACTTGGATGGGGAAA	0.393000														20			11		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171248040	171248040	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:171248040A>C	uc002ufy.3	+	14	1731	c.1588A>C	c.(1588-1590)Aat>Cat	p.N530H	MYO3B_uc002ufv.3_Missense_Mutation_p.N517H|MYO3B_uc010fqb.1_Missense_Mutation_p.N530H|MYO3B_uc002ufz.3_Missense_Mutation_p.N530H|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	530	Myosin head-like.				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						GAGAGAGAAAAATTTTCATAT	0.328000														12			8		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901311	51901311	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:51901311G>A	uc002iua.2	+	0	1073	c.917G>A	c.(916-918)gGa>gAa	p.G306E	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	306	Kinesin-motor.			G -> R (in Ref. 1; AAK20830).	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						GGGCAGACGGGAAGTGGGAAG	0.552000														41			20		0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10928651	10928651	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:10928651C>T	uc003mzo.3	+	17	1752	c.1456C>T	c.(1456-1458)Ccg>Tcg	p.P486S	SYCP2L_uc011din.1_Intron|SYCP2L_uc010jow.3_Missense_Mutation_p.P106S	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	486						nucleus		p.P485T(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			gccggtccctccgttcggggt	0.473000														44			12		0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96237063	96237063	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:96237063C>T	uc001vmk.3	-	21	3303	c.2451G>A	c.(2449-2451)gcG>gcA	p.A817A	DZIP1_uc001vmj.3_Silent_p.A293A|DZIP1_uc001vml.3_Silent_p.A798A|DZIP1_uc001vmm.3_5'Flank	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	817					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GTTCATTTTTCGCAGGTGGAG	0.463000														87			34		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77247155	77247155	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:77247155C>T	uc003hkb.4	-	21	3165	c.3012G>A	c.(3010-3012)gtG>gtA	p.V1004V	U7_uc021xpf.1_5'Flank	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	1004	Ser-rich.							p.S1003C(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						CTGAGTTTTTCACAGATGGAC	0.368000														75			44		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98828474	98828474	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:98828474G>A	uc002syo.3	+	12	2083	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N	VWA3B_uc010yvh.2_Missense_Mutation_p.D457N|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.D126N|VWA3B_uc002sym.3_Missense_Mutation_p.D607N|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.D264N|VWA3B_uc002syp.1_5'UTR|VWA3B_uc002syq.1_5'UTR|VWA3B_uc002syr.1_5'UTR	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	607	VWFA.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCTTCTGACCGATGGGAGACC	0.483000														33			23		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155158006	155158006	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:155158006C>T	uc002tyt.4	+	6	1164	c.1060C>T	c.(1060-1062)Cct>Tct	p.P354S	GALNT13_uc002tyr.4_Missense_Mutation_p.P354S|GALNT13_uc010foc.1_Missense_Mutation_p.P173S|GALNT13_uc010fod.3_Missense_Mutation_p.P107S	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	354						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ATACACTTTTCCTGGTGGCAC	0.438000														77			26		0	0	1	0	0
C11orf16	56673	broad.mit.edu	37	11	8947545	8947545	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:8947545C>T	uc001mhb.4	-	4	793	c.669G>A	c.(667-669)gaG>gaA	p.E223E	C11orf16_uc001mhc.4_Silent_p.E223E	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	Homo sapiens chromosome 11 open reading frame 16 (C11orf16), mRNA.	223								p.E223V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		TGTGCAGCCTCTCCACAGCCT	0.557000														57			46		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62197147	62197147	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:62197147G>A	uc002yfm.2	-	8	3920	c.3028C>T	c.(3028-3030)Cgt>Tgt	p.R1010C	PRIC285_uc002yfl.1_Missense_Mutation_p.R441C	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1010	Ala-rich.				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)			GTGATGTCACGGGATGCTGGG	0.682000														12			4		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183717789	183717789	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:183717789G>A	uc003ivd.1	+	26	7289	c.7214_splice	c.e26-1	p.D2405_splice		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2405					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)		TCTTCTCCTAGATGTTAACAG	0.343000														24			10		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78380298	78380298	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:78380298C>T	uc001ozl.4	-	31	7555	c.7092G>A	c.(7090-7092)ggG>ggA	p.G2364G	ODZ4_uc001ozk.4_Silent_p.G589G	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2364					signal transduction	integral to membrane		p.G2364V(1)		breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CAAGAGGGGTCCCGATGTTGT	0.483000														31			25		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107012637	107012637	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:107012637G>A	uc001kyi.1	+	22	3437	c.3210G>A	c.(3208-3210)agG>agA	p.R1070R	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1070						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAGAGAGGAGGAAAGGCAATG	0.527000														6			26		0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65180610	65180610	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:65180610G>A	uc002lke.1	-	1	2490	c.1266C>T	c.(1264-1266)ttC>ttT	p.F422F	DSEL_uc021ulg.1_Silent_p.F422F	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	412						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CCCAGTTAGGGAATGTGTGTA	0.493000														30			14		0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45535698	45535698	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:45535698G>A	uc002zeb.3	+	6	823	c.733G>A	c.(733-735)Gag>Aag	p.E245K		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	245	Poly-Glu.					cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		ggaagaggaggaggaggagga	0.642000														18			7		0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46660692	46660692	+	Silent	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:46660692A>G	uc003oyj.3	+	0	5081	c.4827A>G	c.(4825-4827)gaA>gaG	p.E1609E	TDRD6_uc010jze.3_Silent_p.E1609E	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1609	Tudor 7.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	p.I1608N(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GAAACATTGAAGACTGTGTGG	0.418000														48			40		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228960	3228960	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:3228960C>T	uc004crg.4	-	6	7441	c.7284G>A	c.(7282-7284)agG>agA	p.R2428R		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2428	Ig-like C2-type 8.					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)				ACACCGTCTTCCTATCCTCTC	0.562000														10			25		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7091574	7091574	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:7091574C>T	uc001mfb.1	+	10	3356	c.3033C>T	c.(3031-3033)atC>atT	p.I1011I		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	1011					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)		CTGCTCTTATCTGCAACAAAA	0.348000														31			17		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113374479	113374479	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:113374479G>A	uc003eam.3	-	6	6461	c.6050C>T	c.(6049-6051)tCt>tTt	p.S2017F	KIAA2018_uc003eal.3_Missense_Mutation_p.S1961F	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	2017					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.L2016F(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GCCACCAGTAGAGAGAGGAAG	0.458000														28			11		0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35370292	35370292	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:35370292G>A	uc001byc.3	-	0	693	c.693C>T	c.(691-693)caC>caT	p.H231H		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	231	Poly-His.				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				ggtggtggtggtgatggtggt	0.662000														38			29		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62036697	62036697	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:62036697G>A	uc002jds.1	-	11	2024	c.1947C>T	c.(1945-1947)atC>atT	p.I649I		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	649					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)	TGAGGGTGACGATGATGCTGT	0.552000														25			30		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237604755	237604755	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:237604755C>T	uc001hyl.1	+	12	1262	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	381	MIR 5.				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.V380V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACGTGAAATCCGTGAGAATG	0.353000														50			63		0	0	1	0	0
SCML2	10389	broad.mit.edu	37	X	18278362	18278362	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:18278362G>A	uc004cyl.2	-	8	1155	c.998C>T	c.(997-999)tCg>tTg	p.S333L	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Missense_Mutation_p.S333L|SCML2_uc011miz.1_Missense_Mutation_p.S267L|SCML2_uc010nfc.2_Missense_Mutation_p.S69L	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	333					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TCTGGTCAGCGATTTTAGAGA	0.338000														6			19		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655701	46655701	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:46655701C>T	uc003bhh.3	-	0	3519	c.3519G>A	c.(3517-3519)cgG>cgA	p.R1173R		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1173					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	p.R1173G(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGATGTTTAACCGTAGATCCA	0.488000														76			39		0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35579758	35579758	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:35579758A>G	uc001bym.3	+	9	2473	c.2327A>G	c.(2326-2328)aAc>aGc	p.N776S	ZMYM1_uc001byn.3_Missense_Mutation_p.N776S|ZMYM1_uc010ohu.2_Missense_Mutation_p.N757S|ZMYM1_uc001byo.3_Missense_Mutation_p.N416S|ZMYM1_uc009vut.3_Missense_Mutation_p.N701S	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	776						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)				TCTTTGTTCAACACTATTTGT	0.313000														4			32		0	0	1	0	0
RPSAP52	204010	broad.mit.edu	37	12	66152108	66152108	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:66152108C>T	uc001sso.3	-	1	836	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K						Homo sapiens ribosomal protein SA pseudogene 52 (RPSAP52), non-coding RNA.																		CCCTGAAATTCCTTCTTGGTC	0.478000														6			4		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640594	7640594	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:7640594C>T	uc001qsz.3	-	6	1638	c.1510G>A	c.(1510-1512)Gat>Aat	p.D504N	CD163_uc001qta.3_Missense_Mutation_p.D504N|CD163_uc009zfw.2_Missense_Mutation_p.D504N	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	504	SRCR 5.				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						AAGTCCGAATCACAGATGGAG	0.527000														15			14		0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214549624	214549624	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:214549624G>A	uc001hkk.2	-	14	3498	c.2845C>T	c.(2845-2847)Cga>Tga	p.R949*	PTPN14_uc021piy.1_Nonsense_Mutation_p.R713*|PTPN14_uc010pty.2_Nonsense_Mutation_p.R850*	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	949	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.R949Q(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		AGCTCTACTCGATTCTCCTCA	0.458000														27			50		0	0	1	0	0
FAM180A	389558	broad.mit.edu	37	7	135418800	135418800	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:135418800C>T	uc003vtd.3	-	2	711	c.445G>A	c.(445-447)Gcg>Acg	p.A149T	FAM180A_uc010lmt.3_Non-coding_Transcript|FAM180A_uc010lmu.2_Missense_Mutation_p.A149T	NM_205855	NP_995327	Q6UWF9	F180A_HUMAN	Homo sapiens family with sequence similarity 180, member A (FAM180A), mRNA.	149						extracellular region		p.W148L(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						AGGGACTGCGCCCAGATGTCC	0.602000														19			23		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171243660	171243660	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:171243660C>T	uc002ufy.3	+	13	1562	c.1419C>T	c.(1417-1419)tcC>tcT	p.S473S	MYO3B_uc002ufv.3_Silent_p.S460S|MYO3B_uc010fqb.1_Silent_p.S473S|MYO3B_uc002ufz.3_Silent_p.S473S|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	473	Myosin head-like.				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						AAGTCAACTCCCTGGTGGAAG	0.443000														31			20		0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34724175	34724175	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:34724175G>A	uc003teh.1	+	1	287	c.159G>A	c.(157-159)ttG>ttA	p.L53L	NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.L53L|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Silent_p.L53L|NPSR1_uc003tei.1_Silent_p.L53L|NPSR1_uc010kww.1_Silent_p.L53L|NPSR1_uc011kar.1_Silent_p.L53L	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	53						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	p.L53F(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTGAGCAATTGATAACTCTGT	0.423000														45			28		0	0	1	0	0
LOC728989	728989	broad.mit.edu	37	1	146493351	146493351	+	Missense_Mutation	SNP	A	G	G	rs141632041	by1000genomes	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:146493351A>G	uc001epd.2	-	4	636	c.562T>C	c.(562-564)Tgg>Cgg	p.W188R						Homo sapiens phosphodiesterase 4D interacting protein pseudogene (LOC728989), non-coding RNA.																		TGAAGGAGCCACTCCTGTTTG	0.488000														30			5		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42848976	42848976	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:42848976G>A	uc002otl.4	+	11	2723	c.2088G>A	c.(2086-2088)caG>caA	p.Q696Q	MEGF8_uc002otm.4_Silent_p.Q237Q	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	764						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ATACCTCCCAGCCTGACAAGG	0.562000														14			112		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28672216	28672216	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:28672216C>T	uc002kwl.4	-	2	656	c.202G>A	c.(202-204)Gat>Aat	p.D68N	DSC2_uc002kwk.4_Missense_Mutation_p.D68N|DSC2_uc010xbo.1_Missense_Mutation_p.D68N	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	68					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AAGTCAGGATCACTTGAATGA	0.333000														27			12		0	0	1	0	0
NDUFA10	4705	broad.mit.edu	37	2	240929550	240929550	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:240929550G>A	uc010fzc.2	-	9	1131	c.1030C>T	c.(1030-1032)Ctc>Ttc	p.L344F	NDUFA10_uc002vyn.3_Missense_Mutation_p.L314F	NM_004544	NP_004535	O95299	NDUAA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), nuclear gene encoding mitochondrial protein, mRNA.	314					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	ACTTCCGGGAGAAAGATAGGA	0.423000														33			35		0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373174	86373174	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:86373174C>T	uc010sum.2	-	5	1561	c.1402G>A	c.(1402-1404)Ggt>Agt	p.G468S	MGAT4C_uc001tal.4_Missense_Mutation_p.G444S|MGAT4C_uc001taj.4_Missense_Mutation_p.G444S|MGAT4C_uc001tak.4_Missense_Mutation_p.G444S|MGAT4C_uc001tai.4_Missense_Mutation_p.G444S|MGAT4C_uc001tah.4_Missense_Mutation_p.G444S	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	444					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGATTTACACCTGACATTTCA	0.333000														26			9		0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81610463	81610463	+	Silent	SNP	G	A	A	rs149789138	by1000genomes	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:81610463G>A	uc001xvd.1	+	9	2217	c.2061G>A	c.(2059-2061)agG>agA	p.R687R		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	687					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.Q686H(1)|p.Q686K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CCTTCCAGAGGGATGTGTTCA	0.483000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							88			73		0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679627	160679627	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:160679627C>T	uc003qtf.3	-	0	337	c.163G>A	c.(163-165)Gga>Aga	p.G55R	SLC22A2_uc003qth.2_Missense_Mutation_p.G55R	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	55					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TCGGCCACTCCGGGGCTCCGG	0.647000														31			29		0	0	1	0	0
OR5K2	402135	broad.mit.edu	37	3	98216779	98216779	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:98216779C>T	uc011bgx.2	+	0	255	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 2 (OR5K2), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TAGAGAACTTCTTTTCTGAGG	0.443000														105			66		0	0	1	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77244668	77244668	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:77244668G>A	uc001syk.1	+	16	1965	c.1802G>A	c.(1801-1803)cGa>cAa	p.R601Q		NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	Homo sapiens zinc finger, DHHC-type containing 17 (ZDHHC17), mRNA.	601					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	p.R601*(1)		breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTTGAATTTCGATGCTGTGGC	0.403000														61			54		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37597932	37597932	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr21:37597932C>T	uc002yvg.3	+	11	1519	c.1440C>T	c.(1438-1440)gcC>gcT	p.A480A	DOPEY2_uc011aeb.2_Silent_p.A480A	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	480					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGCTCTGCGCCCTCCTGGTCT	0.522000														19			16		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177249819	177249819	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:177249819C>T	uc001glf.3	+	7	1819	c.1507C>T	c.(1507-1509)Ctt>Ttt	p.L503F	FAM5B_uc001glg.3_Missense_Mutation_p.L398F	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	503						extracellular region		p.F502S(1)		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						GGAAAACTTTCTTGGGCTGGA	0.572000														24			29		0	0	1	0	0
NKX6-1	4825	broad.mit.edu	37	4	85414682	85414682	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:85414682C>T	uc003hpa.1	-	2	870	c.864G>A	c.(862-864)cgG>cgA	p.R288R		NM_006168	NP_006159	P78426	NKX61_HUMAN	Homo sapiens NK6 homeobox 1 (NKX6-1), mRNA.	288					detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		TCCACTTGGTCCGGCGGTTCT	0.617000														35			20		0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159860322	159860322	+	Missense_Mutation	SNP	G	A	A	rs62640918	byFrequency	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:159860322G>A	uc001fui.3	-	2	238	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_5'UTR|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.R74C	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	74						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)			TCTGGCTTGCGATCCAAGCCC	0.552000														109			58		0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	192863813	192863813	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:192863813C>T	uc002utc.3	-	5	1052	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.	220	Kazal-like 2.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			GACATGACTTCAATTTTCTCC	0.358000														49			28		0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713473	70713473	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:70713473G>A	uc010ttg.2	-	0	1046	c.395C>T	c.(394-396)tCa>tTa	p.S132L						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		ACTTATAAGTGAATTTTTTAT	0.383000														53			26		0	0	1	0	0
GPX6	257202	broad.mit.edu	37	6	28474150	28474150	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:28474150G>A	uc021yrx.1	-	2	348	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	100					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TGGTTGCAGGGAAAGGCCAAC	0.498000														68			22		0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33413645	33413645	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:33413645G>A	uc021vft.1	+	7	1450	c.1427_splice	c.e7-1	p.V476_splice	LTBP1_uc002rou.3_Splice_Site_p.V150_splice|LTBP1_uc002rov.3_Splice_Site_p.V150_splice|LTBP1_uc010ymz.2_Splice_Site_p.V150_splice|LTBP1_uc010yna.2_Splice_Site_p.V150_splice	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	476					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)				CTGTTGTAGTGAAATTTCCTC	0.368000														32			25		0	0	1	0	0
IGHE	3497	broad.mit.edu	37	14	106067091	106067091	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:106067091C>T	uc001yrw.1	-	3	736	c.724G>A	c.(724-726)Gac>Aac	p.D242N	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Missense_Mutation_p.D189N|epsilon_IgE_uc010axp.1_5'Flank|IGHE_uc001yru.2_5'Flank					RecName: Full=Ig epsilon chain C region;																		ATGAACAGGTCGAACGGGCTG	0.657000														13			8		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113275228	113275228	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:113275228G>A	uc010mtz.3	-	4	1618	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S	SVEP1_uc010mua.1_Silent_p.S427S|SVEP1_uc004beu.2_Silent_p.S427S|SVEP1_uc004bev.3_Silent_p.S171S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	427	Sushi 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						TCTCTGAACCGGACCACAAAC	0.443000														5			27		0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25481089	25481089	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:25481089C>T	uc001upt.4	-	6	1340	c.1087G>A	c.(1087-1089)Gga>Aga	p.G363R	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript|CENPJ_uc001upu.3_5'Flank	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	363					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GGCAATGGTCCTTCTGCTTCC	0.284000														10			16		0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134990307	134990307	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:134990307G>A	uc004ezh.3	+	10	1386	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N	SAGE1_uc010nry.1_Missense_Mutation_p.D376N|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	407										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)					ACCAACCCCTGATAACGTCTT	0.443000														11			40		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39788337	39788337	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:39788337C>T	uc021olt.1	+	30	4154	c.4102C>T	c.(4102-4104)Cct>Tct	p.P1368S	MACF1_uc021ols.1_Missense_Mutation_p.P1368S|MACF1_uc001cdc.2_Missense_Mutation_p.P1368S|MACF1_uc001cda.1_Missense_Mutation_p.P1276S|MACF1_uc009vvq.1_Missense_Mutation_p.P425S|MACF1_uc001cdb.1_Missense_Mutation_p.P455S	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1368					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)			GCAGAAATCCCCTGGCAAGCG	0.473000														45			33		0	0	1	0	0
C20orf151	140893	broad.mit.edu	37	20	60989205	60989205	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:60989205C>T	uc002ycw.2	-	9	1399	c.1202G>A	c.(1201-1203)gGg>gAg	p.G401E		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA.	401										large_intestine(3)|lung(3)|prostate(1)|skin(4)|stomach(1)	12	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)			TGCCCTGGTCCCCTCATTCTC	0.711000														12			11		0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900710	151900710	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:151900710G>A	uc022chj.1	-	0	91	c.91C>T	c.(91-93)Cct>Tct	p.P31S	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.P31S|MAGEA12_uc022chi.1_Missense_Mutation_p.P31S|MAGEA12_uc004fgc.3_Missense_Mutation_p.P31S|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	31										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGTAGCAGGAGCCTGCGCA	0.622000														9			25		0	0	1	0	0
DQ656008	0	broad.mit.edu	37	11	5142675	5142676	+	RNA	DNP	CC	TT	TT			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:5142675_5142676CC>TT	uc001maa.3	-	3		c.723_724GG>AA								Homo sapiens clone Affy08256A04, mRNA sequence.																		TAGAGAATTTCCAATCAGAGCA	0.436000														51			32		0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85952157	85952157	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:85952157G>A	uc002fjh.3	+	6	793	c.736G>A	c.(736-738)Ggc>Agc	p.G246S		NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	246					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)				TGGGCCCGAGGGCCTGGAGCT	0.736000														16			16		0	0	1	0	0
ZNF90	7643	broad.mit.edu	37	19	20215083	20215083	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:20215083C>T	uc002nor.2	+	1	178	c.39C>T	c.(37-39)ttC>ttT	p.F13F	ZNF90_uc021url.1_Intron	NM_007138	NP_009069	Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.	13	KRAB.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						CCATAGAATTCTCTCTGGAGG	0.423000														10			55		0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140301428	140301428	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:140301428G>A	uc010lnk.3	-	2	1290	c.770C>T	c.(769-771)tCc>tTc	p.S257F	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.S257F|DENND2A_uc003vvw.3_Missense_Mutation_p.S257F|DENND2A_uc003vvx.3_Missense_Mutation_p.S257F	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	257								p.G256G(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CTTTGTGGGGGAACCCTCCGA	0.597000														112			68		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48393854	48393854	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:48393854C>T	uc001rqu.3	-	1	321	c.140G>A	c.(139-141)tGg>tAg	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)	CTCCGGCTTCCACACATCCTT	0.572000														18			12		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31319118	31319118	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:31319118C>T	uc010dmg.1	+	10	1805	c.1750C>T	c.(1750-1752)Cca>Tca	p.P584S	ASXL3_uc002kxq.2_Missense_Mutation_p.P291S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	584					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						AGGCCAGTTTCCAAATGAAGG	0.433000														7			7		0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219247685	219247685	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:219247685G>A	uc002vhv.3	+	1	350	c.10G>A	c.(10-12)Gac>Aac	p.D4N	SLC11A1_uc010zkb.1_Missense_Mutation_p.D4N|SLC11A1_uc010fvp.1_Missense_Mutation_p.D4N|SLC11A1_uc010fvq.1_Intron|SLC11A1_uc010zkc.1_5'UTR|SLC11A1_uc002vhu.1_5'UTR|SLC11A1_uc002vhw.3_5'UTR	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	4	Pro/Ser-rich.				L-arginine import|MHC class II biosynthetic process|T cell cytokine production|T cell proliferation involved in immune response|activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|mRNA stabilization|macrophage activation|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCACAGGTGACAAGGGTCC	0.617000														52			34		0	0	1	0	0
GTPBP2	54676	broad.mit.edu	37	6	43592649	43592649	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:43592649G>A	uc003ovs.3	-	5	893	c.856C>T	c.(856-858)Ctc>Ttc	p.L286F	GTPBP2_uc010jyv.3_Missense_Mutation_p.L198F	NM_019096	NP_061969	Q9BX10	GTPB2_HUMAN	Homo sapiens GTP binding protein 2 (GTPBP2), mRNA.	286							GTP binding|GTPase activity	p.L286L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GCACTGACGAGGAGCAGGGCG	0.577000														81			27		0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25671851	25671851	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:25671851G>A	uc001upy.3	+	0	1576	c.1515G>A	c.(1513-1515)cgG>cgA	p.R505R		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	505					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CGGTTCCACGGTATAAATATG	0.527000														30			48		0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159343	118159343	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:118159343C>T	uc003yoh.3	+	1	452	c.222C>T	c.(220-222)ctC>ctT	p.L74L	SLC30A8_uc010mcz.3_Silent_p.L25L|SLC30A8_uc003yog.3_Silent_p.L25L|SLC30A8_uc011lia.2_Silent_p.L25L|SLC30A8_uc022bab.1_Silent_p.L25L	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	74					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			AGTGGAAACTCTGTTCTGCTT	0.483000														152			123		0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190924968	190924968	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:190924968G>A	uc002urp.3	-	1	700	c.567C>T	c.(565-567)atC>atT	p.I189I		NM_005259	NP_005250	O14793	GDF8_HUMAN	Homo sapiens myostatin (MSTN), mRNA.	189					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TCAGAGATCGGATTCCAGTAT	0.428000														39			27		0	0	1	0	0
AMZ1	155185	broad.mit.edu	37	7	2740300	2740300	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:2740300A>G	uc003smr.1	+	1	576	c.215A>G	c.(214-216)gAg>gGg	p.E72G	AMZ1_uc003sms.1_Missense_Mutation_p.E72G|AMZ1_uc011jwa.1_5'Flank	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	72							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGCCGACCCGAGGCTCCCGAG	0.672000														320			26		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81627296	81627296	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:81627296C>T	uc021ssk.1	-	20	2224	c.2224G>A	c.(2224-2226)Gaa>Aaa	p.E742K	TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	742						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						TTGGTGCTTTCTTCCTGGGTC	0.542000														17			38		0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15386768	15386768	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:15386768C>T	uc001avm.4	+	5	1298	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	KAZN_uc009vog.1_Silent_p.S339S|KAZN_uc001avo.2_Silent_p.S333S|KAZN_uc001avp.2_Silent_p.S245S|KAZN_uc001avq.2_Silent_p.S245S|KAZN_uc001avr.2_Silent_p.S242S	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA.	339					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						ACATCAACTCCCCTCGACACC	0.706000														60			42		0	0	1	0	0
HS6ST2	90161	broad.mit.edu	37	X	131762479	131762479	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:131762479G>A	uc011mvd.1	-	5	2126	c.1710C>T	c.(1708-1710)ttC>ttT	p.F570F	HS6ST2_uc011mvb.1_Silent_p.F424F|HS6ST2_uc011mvc.1_Silent_p.F384F|HS6ST2_uc011mve.1_Silent_p.F530F|HS6ST2_uc011mva.1_Silent_p.F256F	NM_001077188	NP_001070656	Q96MM7	H6ST2_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 2 (HS6ST2), transcript variant L, mRNA.	530						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					CCTGGCTCTGGAAATGGGTCT	0.502000														9			22		0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40693178	40693178	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:40693178C>T	uc002hzv.3	+	4	1315	c.975C>T	c.(973-975)tcC>tcT	p.S325S		NM_000263	NP_000254	P54802	ANAG_HUMAN	Homo sapiens N-acetylglucosaminidase, alpha (NAGLU), mRNA.	325						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CAGAGCCCTCCTACCTTGCCG	0.587000														43			28		0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70078409	70078409	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:70078409C>T	uc003heh.3	-	1	761	c.752G>A	c.(751-753)gGa>gAa	p.G251E	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	251					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.G251G(1)		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						GTCAGCTTTTCCCATTGTCTC	0.373000														55			25		0	0	1	0	0
SYNJ2BP-COX16	100529257	broad.mit.edu	37	14	70855188	70855188	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:70855188G>A	uc021rvn.1	-	2	328	c.201_splice	c.e2+1	p.S67_splice	SYNJ2BP-COX16_uc021rvm.1_Splice_Site_p.S67_splice|SYNJ2BP-COX16_uc021rvo.1_Splice_Site_p.S67_splice|SYNJ2BP-COX16_uc001xmc.4_Splice_Site_p.S67_splice	NM_001202547	NP_001189476			Homo sapiens SYNJ2BP-COX16 readthrough (SYNJ2BP-COX16), transcript variant 1, mRNA.																		CATTCTCACCGAAAGGATCTT	0.542000														22			20		0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64502690	64502690	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:64502690G>A	uc009ypu.3	-	11	1533	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	RASGRP2_uc001oat.3_Missense_Mutation_p.R338W|RASGRP2_uc001oau.3_Missense_Mutation_p.R291W|RASGRP2_uc009ypv.3_Missense_Mutation_p.R436W|RASGRP2_uc009ypw.3_Missense_Mutation_p.R436W	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	436	EF-hand 1.				Ras protein signal transduction|platelet activation|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCAAAGTTCCGGAACACAGAC	0.572000														23			10		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57100495	57100495	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:57100495C>T	uc021tiu.1	+	32	4418	c.4291C>T	c.(4291-4293)Cag>Tag	p.Q1431*	NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Nonsense_Mutation_p.Q318*	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1431					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ATTTCCTCGCCAGGAAGAGAA	0.637000														19			9		0	0	1	0	0
ADRA1A	148	broad.mit.edu	37	8	26627906	26627906	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:26627906C>T	uc003xfc.1	-	1	1597	c.1161G>A	c.(1159-1161)agG>agA	p.R387R	ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Silent_p.R387R|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Silent_p.R387R|ADRA1A_uc003xfh.1_Silent_p.R387R	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	387				R -> G (in Ref. 9; AAK77197).	activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TCTTGGAGATCCTGTAGAAGG	0.557000														79			43		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118375435	118375435	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:118375435C>T	uc001pta.3	+	26	8842	c.8819C>T	c.(8818-8820)aCt>aTt	p.T2940I	MLL_uc001ptb.3_Missense_Mutation_p.T2943I	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2940					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CGGAGTCCCACTGTCCCCAGC	0.493000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									11			38		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38877314	38877314	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:38877314C>T	uc021yzh.1	+	64	9643	c.9534C>T	c.(9532-9534)gcC>gcT	p.A3178A	DNAH8_uc003ooe.2_Silent_p.A2961A|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGTTCCGTGCCCGTTCTTTGA	0.473000														75			15		0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32964901	32964901	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:32964901G>A	uc002hif.3	+	9	2933	c.2605G>A	c.(2605-2607)Gaa>Aaa	p.E869K		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	869						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CAACCCGCTGGAAACCGTGCC	0.701000														11			11		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156643259	156643259	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:156643259C>T	uc003iov.3	+	9	2322	c.1786C>T	c.(1786-1788)Ctt>Ttt	p.L596F	GUCY1A3_uc010iqc.2_Missense_Mutation_p.L596F|GUCY1A3_uc010iqd.3_Missense_Mutation_p.L595F|GUCY1A3_uc003iow.3_Missense_Mutation_p.L596F|GUCY1A3_uc003iox.3_Missense_Mutation_p.L596F|GUCY1A3_uc010iqe.3_Missense_Mutation_p.L361F|GUCY1A3_uc003ioy.3_Missense_Mutation_p.L596F|GUCY1A3_uc003ioz.3_Missense_Mutation_p.L361F|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Missense_Mutation_p.L596F	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	596	Guanylate cyclase.				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)		CCGTTACTGTCTTTTTGGAAA	0.408000														77			41		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21399878	21399878	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:21399878G>A	uc002kuq.3	+	18	2307	c.2221G>A	c.(2221-2223)Ggg>Agg	p.G741R	LAMA3_uc002kur.3_Missense_Mutation_p.G741R	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	741					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACACCTAATGGGAGAGACCT	0.423000														19			13		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54958793	54958793	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:54958793C>T	uc003dhl.3	-	1	591	c.457G>A	c.(457-459)Gtt>Att	p.V153I	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	153						integral to membrane		p.A152A(2)|p.A152V(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		TTTTGTTGAACCGCAAGTATA	0.488000														44			32		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153689549	153689549	+	Silent	SNP	C	T	T	rs148620908		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:153689549C>T	uc004flm.3	+	2	878	c.705C>T	c.(703-705)ttC>ttT	p.F235F		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	235	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCGCCTCCTTCGTGTACTTCC	0.557000														13			36		0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	162394441	162394441	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:162394441G>A	uc021zhu.1	-	6	859	c.768C>T	c.(766-768)ttC>ttT	p.F256F	PARK2_uc003qtv.4_Non-coding_Transcript|PARK2_uc003qtw.4_Silent_p.F18F|PARK2_uc010kkd.3_Silent_p.F18F|PARK2_uc003qtx.4_Silent_p.F209F|PARK2_uc021zhs.1_Silent_p.F181F|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Silent_p.F181F|PARK2_uc003qtz.4_Silent_p.F60F|PARK2_uc021zhv.1_Silent_p.F130F|PARK2_uc021zhw.1_Silent_p.F18F|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Silent_p.F209F|PARK2_uc010kke.1_Silent_p.F209F	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	209			R -> C (in PARK2 and PARK; early and late onset; impairs the ability to ubiquitinate SNCAIP and ZNF746; dbSNP:rs34424986).		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	p.R256R(1)		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)		CACATTTAAAGAAAAATTCCT	0.413000														19			13		0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119583450	119583450	+	Silent	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:119583450T>C	uc001txa.2	+	8	1424	c.1036T>C	c.(1036-1038)Ttg>Ctg	p.L346L		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	346	Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GGGGGCCATGTTGGAGAATCT	0.597000														8			7		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33546244	33546244	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:33546244C>T	uc003jia.1	-	21	4529	c.4366G>A	c.(4366-4368)Gat>Aat	p.D1456N	ADAMTS12_uc010iuq.1_Missense_Mutation_p.D1371N	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1456	TSP type-1 7.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTTGTCCAATCACAGAGGCCT	0.507000										HNSCC(64;0.19)				29			20		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751047	140751047	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140751047G>A	uc003ljw.2	+	0	1086	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.L362L|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	365	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCTGAGCTGGGGACTGCCG	0.403000														16			13		0	0	1	0	0
TNNC1	7134	broad.mit.edu	37	3	52486251	52486251	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:52486251C>T	uc003deb.3	-	2	99	c.73G>A	c.(73-75)Gac>Aac	p.D25N		NM_003280	NP_003271	P63316	TNNC1_HUMAN	Homo sapiens troponin C type 1 (slow) (TNNC1), mRNA.	25	EF-hand 1.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	ACGAAGATGTCGAAGGCTGCC	0.637000														48			32		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57415351	57415351	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:57415351T>G	uc001cyp.3	-	5	808	c.741A>C	c.(739-741)aaA>aaC	p.K247N	C8B_uc010oon.2_Missense_Mutation_p.K185N|C8B_uc010ooo.2_Missense_Mutation_p.K195N	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	247	MACPF.				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						TGCTTGCCATTTTCTCTGTGA	0.343000														15			16		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11651075	11651075	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:11651075G>A	uc002gne.3	+	31	6670	c.6602G>A	c.(6601-6603)tGg>tAg	p.W2201*	DNAH9_uc010coo.3_Nonsense_Mutation_p.W1495*	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2201	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACAGGAGAATGGAAGGATGGT	0.512000														26			24		0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73073519	73073519	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:73073519C>T	uc001otu.3	+	13	4757	c.4736C>T	c.(4735-4737)cCg>cTg	p.P1579L		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1579					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GAGACGGCACCGGAGCCCGCC	0.706000														19			10		0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161174018	161174018	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:161174018C>T	uc003qtm.4	+	18	2470	c.2358C>T	c.(2356-2358)cgC>cgT	p.R786R		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	786	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GCTGTGCACGCCCCAATAAGC	0.473000														18			10		0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486805	125486805	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:125486805C>T	uc004bmu.1	+	0	537	c.537C>T	c.(535-537)ttC>ttT	p.F179F		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						AGCACTTTTTCTGTGACACCC	0.507000														62			50		0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135621102	135621102	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:135621102G>T	uc002ttz.3	+	4	454	c.387G>T	c.(385-387)atG>atT	p.M129I	ACMSD_uc002tua.3_Missense_Mutation_p.M71I	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.	129					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TCAAGGAGATGGAGCGCTGTG	0.607000														25			21		7.45023e-12	7.50247e-12	1	1	0
HOXC5	3222	broad.mit.edu	37	12	54427299	54427299	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:54427299G>A	uc001sew.3	+	0	468	c.393G>A	c.(391-393)ctG>ctA	p.L131L	HOXC5_uc001set.3_Intron|HOXC4_uc001seu.3_Intron|MIR615_uc021qyl.1_5'Flank	NM_018953	NP_061826	Q00444	HXC5_HUMAN	Homo sapiens homeobox C5 (HOXC5), transcript variant 1, mRNA.	131					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CCGCCGGACTGAGCCAGCCAC	0.622000														5			3		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765586	77765586	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:77765586C>T	uc003yau.2	+	9	6816	c.6429C>T	c.(6427-6429)atC>atT	p.I2143I	ZFHX4_uc003yaw.1_Silent_p.I2098I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2098						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCTAAAAATCCTGAGGGCTT	0.423000										HNSCC(33;0.089)				20			11		0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129521409	129521409	+	Silent	SNP	C	T	T	rs148231534		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:129521409C>T	uc003kvd.3	+	2	2574	c.2574C>T	c.(2572-2574)ttC>ttT	p.F858F		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.	858						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAAGTACTTTCGCCTCAACCA	0.443000														34			23		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242234	87242234	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:87242234C>T	uc003ydq.1	-	0	371	c.273G>A	c.(271-273)acG>acA	p.T91T	SLC7A13_uc003ydr.1_Silent_p.T91T	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	91						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AAAAAGCAACCGTGGAGCCAA	0.463000														23			12		0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163059615	163059615	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:163059615G>A	uc002ucd.3	-	12	1296	c.1088C>T	c.(1087-1089)tCg>tTg	p.S363L	FAP_uc010zct.2_Missense_Mutation_p.S338L	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	363					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.S363S(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TTTGTAGTACGAAATGGCATC	0.333000														15			3		0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102564738	102564738	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:102564738G>A	uc001phd.1	-	7	1115	c.1092C>T	c.(1090-1092)atC>atT	p.I364I		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	364	Hemopexin-like 2.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CTAATGTATGGATGGATTTGG	0.408000														34			34		0	0	1	0	0
DLK2	65989	broad.mit.edu	37	6	43418634	43418634	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:43418634C>T	uc003ova.3	-	5	1004	c.795G>A	c.(793-795)ggG>ggA	p.G265G	DLK2_uc003ovb.3_Silent_p.G265G	NM_023932	NP_996262	Q6UY11	DLK2_HUMAN	Homo sapiens delta-like 2 homolog (Drosophila) (DLK2), transcript variant 1, mRNA.	265						integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTGAGGTGGGCCCTAGAGGGG	0.642000														76			39		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119770425	119770425	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:119770425G>A	uc004bjt.2	-	5	1485	c.1384C>T	c.(1384-1386)Ctc>Ttc	p.L462F	ASTN2_uc022bml.1_Missense_Mutation_p.L162F|ASTN2_uc022bmm.1_Missense_Mutation_p.L162F	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	513						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						TGTCCACAGAGGTCCCTCACC	0.587000														8			20		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81925096	81925096	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:81925096C>T	uc002fgt.3	+	10	1065	c.887C>T	c.(886-888)tCa>tTa	p.S296L	PLCG2_uc010chg.1_Missense_Mutation_p.S296L	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	296					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TACCTGTTTTCACGAGAAAAC	0.502000														30			21		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152323642	152323642	+	Missense_Mutation	SNP	C	T	T	rs146579981		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:152323642C>T	uc001ezw.4	-	2	6693	c.6620G>A	c.(6619-6621)cGa>cAa	p.R2207Q	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2207							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)			CTGTCCATGTCGAGATCCGGC	0.512000														124			200		0	0	1	0	0
PDGFRL	5157	broad.mit.edu	37	8	17491611	17491611	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:17491611C>T	uc003wxr.3	+	5	1273	c.828C>T	c.(826-828)atC>atT	p.I276I		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA.	276	Ig-like C2-type 2.					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)		CAACAACCATCTTGGCTTCTT	0.527000														102			86		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81972454	81972454	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:81972454C>T	uc002fgt.3	+	28	3425	c.3247C>T	c.(3247-3249)Ccc>Tcc	p.P1083S		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	1083	C2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TATTGCCTGTCCCTTTGTAGA	0.527000														26			13		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235955367	235955367	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:235955367G>T	uc001hxj.2	-	11	4350	c.4175C>A	c.(4174-4176)tCa>tAa	p.S1392*	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Intron|LYST_uc001hxl.1_Nonsense_Mutation_p.S1392*	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1392					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)			TAGATACTGTGAAGGGCTCAT	0.348000														57			37		1.60099e-16	1.62017e-16	1	1	0
CMBL	134147	broad.mit.edu	37	5	10288574	10288574	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:10288574G>A	uc003jes.3	-	2	734	c.283C>T	c.(283-285)Cct>Tct	p.P95S		NM_138809	NP_620164	Q96DG6	CMBL_HUMAN	Homo sapiens carboxymethylenebutenolidase homolog (Pseudomonas) (CMBL), mRNA.	95						cytosol	hydrolase activity|protein binding	p.F94F(2)		endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						AGCCACTCAGGGAAGATAGAC	0.502000														44			17		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20480865	20480865	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:20480865G>A	uc010bwe.3	+	4	659	c.420G>A	c.(418-420)atG>atA	p.M140I	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.M61I|ACSM2A_uc002dhf.4_Missense_Mutation_p.M140I|ACSM2A_uc002dhg.4_Missense_Mutation_p.M140I|ACSM2A_uc010vay.2_Missense_Mutation_p.M61I	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	140					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.Q139K(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCATCCAGATGAAATCCACTG	0.423000														37			16		0	0	1	0	0
C20orf132	140699	broad.mit.edu	37	20	35783561	35783561	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:35783561G>A	uc010zvu.2	-	9	1070	c.979C>T	c.(979-981)Ccc>Tcc	p.P327S	C20orf132_uc002xgk.3_Intron|C20orf132_uc002xgm.2_Missense_Mutation_p.P327S|C20orf132_uc002xgn.2_Intron	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	243										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				TGTAACCAGGGGACCAAGTGC	0.463000														60			47		0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65266120	65266120	+	RNA	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:65266120C>T	uc010roh.2	+	0		c.888C>T								Homo sapiens metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) (MALAT1), non-coding RNA.																		AAGTAAAGCCCTGAACTATCA	0.458000														50			18		0	0	1	0	0
PRM2	5620	broad.mit.edu	37	16	11370185	11370185	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:11370185C>T	uc002dau.1	-	0	153	c.43G>A	c.(43-45)Gag>Aag	p.E15K	RMI2_uc002daq.1_Intron|PRM3_uc002dat.1_5'Flank	NM_002762	NP_002753	P04554	PRM2_HUMAN	Homo sapiens protamine 2 (PRM2), mRNA.	15					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						CTGTACACCTCGTGCGAGCGT	0.642000														25			16		0	0	1	0	0
MZF1	7593	broad.mit.edu	37	19	59080695	59080695	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:59080695C>A	uc002qto.3	-	4	1282	c.721G>T	c.(721-723)Gag>Tag	p.E241*	LOC100131691_uc002qtm.3_Intron|MZF1_uc002qtn.3_Nonsense_Mutation_p.E241*|MZF1_uc010euu.1_Nonsense_Mutation_p.E282*	NM_198055	NP_932172	P28698	MZF1_HUMAN	Homo sapiens myeloid zinc finger 1 (MZF1), transcript variant 2, mRNA.	241					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.R240M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CTGGGGTGCTCCCTCCATGAG	0.607000														36			18		3.32936e-07	3.34567e-07	1	1	0
HTR1F	3355	broad.mit.edu	37	3	88040297	88040297	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:88040297G>A	uc003dqr.2	+	1	556	c.398G>A	c.(397-399)aGg>aAg	p.R133K	HTR1F_uc021xbd.1_Missense_Mutation_p.R133K	NM_000866	NP_000857	P30939	5HT1F_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA.	133					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GAGTATGCCAGGAAAAGGACT	0.438000														27			13		0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28547243	28547243	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:28547243C>T	uc003szq.3	+	3	569	c.179C>T	c.(178-180)cCg>cTg	p.P60L	CREB5_uc003szo.3_Missense_Mutation_p.P27L|CREB5_uc003szr.3_Missense_Mutation_p.P53L	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	60					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P60Q(2)|p.P60P(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GATCAAACTCCGACCCCAACG	0.522000														183			269		0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159166549	159166549	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:159166549T>G	uc003qrp.3	+	12	1292	c.893T>G	c.(892-894)aTg>aGg	p.M298R	SYTL3_uc003qrr.3_Missense_Mutation_p.M298R|SYTL3_uc003qro.3_Missense_Mutation_p.M230R|SYTL3_uc003qrs.3_Missense_Mutation_p.M230R|SYTL3_uc011efq.2_Missense_Mutation_p.M24R	NM_001242384	NP_001229313	Q4VX76	SYTL3_HUMAN	Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.	298					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TGTACAGAGATGGGCAATTTT	0.338000														13			11		0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171310953	171310953	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:171310953A>T	uc001gho.3	+	9	1869	c.1652A>T	c.(1651-1653)tAc>tTc	p.Y551F		NM_002022	NP_002013	P31512	FMO4_HUMAN	Homo sapiens flavin containing monooxygenase 4 (FMO4), mRNA.	551					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ATGTCCCCTTACCTAGTAAGT	0.433000														30			16		0	0	1	0	0
LMBR1	64327	broad.mit.edu	37	7	156589167	156589168	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:156589167_156589168GG>AA	uc010lqn.3	-	4	553_554	c.338_339CC>TT	c.(337-339)tcc>tTT	p.S113F	LMBR1_uc003wmv.4_5'UTR|LMBR1_uc003wmw.4_Missense_Mutation_p.S113F|LMBR1_uc003wmx.4_5'UTR|LMBR1_uc011kvx.2_Missense_Mutation_p.S92F	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	113						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TGGAAAAAAGGGAAGCAAGATT	0.327000														9			5		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139158293	139158293	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:139158293C>T	uc003yuy.3	-	15	3620	c.3449_splice	c.e15-1	p.G1150_splice	FAM135B_uc003yux.3_Splice_Site_p.G1051_splice|FAM135B_uc003yuz.3_Splice_Site|FAM135B_uc003yva.3_Splice_Site_p.G712_splice|FAM135B_uc003yvb.3_Splice_Site_p.W677_splice	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1150										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)			TGCACTGTTCCCTAAAAATGA	0.448000										HNSCC(54;0.14)				33			21		0	0	1	0	0
ING3	54556	broad.mit.edu	37	7	120590960	120590960	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:120590960C>T	uc003vjn.3	+	0	144	c.10C>T	c.(10-12)Cta>Tta	p.L4L	ING3_uc011knr.1_Silent_p.L4L|ING3_uc003vjl.3_Silent_p.L4L|ING3_uc003vjm.1_Silent_p.L4L|ING3_uc003vjo.3_5'UTR|ING3_uc003vjp.3_Silent_p.L4L|ING3_uc011kns.2_5'Flank	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	Homo sapiens inhibitor of growth family, member 3 (ING3), transcript variant 1, mRNA.	4					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					GATGTTGTACCTAGAAGACTA	0.637000														47			28		0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126219672	126219672	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:126219672C>T	uc010hsi.2	-	11	1245	c.1191G>A	c.(1189-1191)gtG>gtA	p.V397V	UROC1_uc003eiz.2_Silent_p.V337V	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	337					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		ACCCCAGGTCCACCAAGCACT	0.632000														26			18		0	0	1	0	0
ABHD5	51099	broad.mit.edu	37	3	43756547	43756547	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:43756547C>T	uc003cmx.3	+	4	880	c.770C>T	c.(769-771)cCa>cTa	p.P257L		NM_016006	NP_057090	Q8WTS1	ABHD5_HUMAN	Homo sapiens abhydrolase domain containing 5 (ABHD5), mRNA.	257					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		GTGCAGACTCCAAGGTGAGGG	0.393000														12			20		0	0	1	0	0
STRA6	64220	broad.mit.edu	37	15	74476262	74476262	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:74476262G>A	uc002axj.3	-	13	1712	c.1352C>T	c.(1351-1353)cCc>cTc	p.P451L	STRA6_uc002axi.3_Missense_Mutation_p.P221L|STRA6_uc010ulh.2_Missense_Mutation_p.P450L|STRA6_uc002axk.3_Missense_Mutation_p.P412L|STRA6_uc002axl.3_Missense_Mutation_p.P344L|STRA6_uc010bji.3_Missense_Mutation_p.P412L|STRA6_uc021sqg.1_Missense_Mutation_p.P427L|STRA6_uc002axm.3_Missense_Mutation_p.P412L|STRA6_uc002axn.3_Missense_Mutation_p.P403L|STRA6_uc010uli.2_Missense_Mutation_p.P449L|STRA6_uc010bjj.1_Non-coding_Transcript	NM_001199042	NP_001185971	Q9BX79	STRA6_HUMAN	Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.	412					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity	p.F451F(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TTGGCGGGAGGGATGGGGACT	0.617000														39			53		0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140630866	140630866	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:140630866C>T	uc003yvf.1	-	1	824	c.760G>A	c.(760-762)Gag>Aag	p.E254K	KCNK9_uc003yvg.1_Missense_Mutation_p.E254K|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	254						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TCCCGCCGCTCATCCTCACTG	0.597000														22			22		0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420886	55420886	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:55420886C>T	uc001sgp.4	+	1	1041	c.663C>T	c.(661-663)ctC>ctT	p.L221L	NEUROD4_uc021qyr.1_Silent_p.L221L	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	221					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AAACACATCTCCTTCATCTCA	0.493000														46			31		0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164789402	164789402	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:164789402G>A	uc001gct.3	+	6	1554	c.1091G>A	c.(1090-1092)gGa>gAa	p.G364E	PBX1_uc010pku.2_Missense_Mutation_p.G364E|PBX1_uc001gcs.3_Intron|PBX1_uc010pkv.2_Missense_Mutation_p.G281E|PBX1_uc010pkw.1_Missense_Mutation_p.G254E	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	364					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						GCCCAGGTTGGAGCCAACGTG	0.488000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									41			43		0	0	1	0	0
IRAK4	51135	broad.mit.edu	37	12	44165129	44165129	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:44165129C>T	uc001rnu.3	+	3	398	c.268C>T	c.(268-270)Caa>Taa	p.Q90*	IRAK4_uc001rnt.3_Nonsense_Mutation_p.Q90*|IRAK4_uc001rnx.3_Intron|IRAK4_uc001rny.3_Intron|IRAK4_uc010sky.1_Intron|IRAK4_uc001rnv.3_5'UTR|IRAK4_uc001rnw.3_5'UTR	NM_001114182	NP_001138730	Q9NWZ3	IRAK4_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 4 (IRAK4), transcript variant 1, mRNA.	90	Death.				MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TCTTTTGATCCAAAATGAATT	0.413000														22			12		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161071470	161071470	+	Nonsense_Mutation	SNP	G	A	A	rs121912503		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:161071470G>A	uc003qtl.3	-	2	229	c.109C>T	c.(109-111)Cga>Tga	p.R37*		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	2545	Kringle 1.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TACGTGCCTCGATAACTCTGT	0.453000														84			63		0	0	1	0	0
TROVE2	6738	broad.mit.edu	37	1	193045023	193045023	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:193045023C>T	uc001gss.3	+	2	1030	c.654C>T	c.(652-654)ctC>ctT	p.L218L	TROVE2_uc001gsu.2_5'UTR|TROVE2_uc001gsv.2_Silent_p.L218L|TROVE2_uc009wyp.3_Silent_p.L218L|TROVE2_uc001gsw.3_Silent_p.L218L|TROVE2_uc009wyq.3_Silent_p.L218L|TROVE2_uc001gsx.2_Silent_p.L218L	NM_001173524	NP_004591	P10155	RO60_HUMAN	Homo sapiens TROVE domain family, member 2 (TROVE2), transcript variant 5, mRNA.	218	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	RNA binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						AAAAAGCACTCTCTGTGGAGA	0.338000														91			30		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187629	140187629	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140187629C>T	uc003lhi.2	+	0	958	c.857C>T	c.(856-858)tCg>tTg	p.S286L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.S286L|PCDHAC2_uc011daa.2_Missense_Mutation_p.S286L	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	301	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S286L(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGATATTTCGCCAAATGTG	0.313000														33			20		0	0	1	0	0
SRF	6722	broad.mit.edu	37	6	43146564	43146564	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:43146564C>T	uc003oui.3	+	5	1850	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L	SRF_uc011dvf.2_Silent_p.L255L	NM_003131	NP_003122	P11831	SRF_HUMAN	Homo sapiens serum response factor (c-fos serum response element-binding transcription factor) (SRF), mRNA.	459					angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCAGGTGTTCCTGACAGCATC	0.483000														85			119		0	0	1	0	0
CMTM1	113540	broad.mit.edu	37	16	66612856	66612856	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:66612856G>A	uc002epr.4	+	3	880	c.813G>A	c.(811-813)aaG>aaA	p.K271K	CMTM1_uc021tjs.1_3'UTR|CMTM1_uc021tjt.1_Silent_p.K153K|CMTM1_uc021tju.1_Silent_p.K100K|CMTM1_uc002eph.4_3'UTR|CMTM1_uc002epi.4_Silent_p.K154K|CMTM1_uc002epl.4_Silent_p.K107K|CMTM1_uc002epj.4_3'UTR|CMTM1_uc002epk.4_Silent_p.K101K|CMTM1_uc002epa.4_3'UTR|CMTM1_uc002epb.4_Non-coding_Transcript|CMTM1_uc002epc.4_Non-coding_Transcript|CMTM1_uc002epd.4_Non-coding_Transcript|CMTM1_uc002epe.4_Non-coding_Transcript|CMTM1_uc002epf.4_Non-coding_Transcript|CMTM1_uc002epg.4_Non-coding_Transcript|CMTM1_uc002epm.4_Non-coding_Transcript|CMTM1_uc002epo.4_Non-coding_Transcript|CMTM1_uc002epp.4_Non-coding_Transcript|CMTM1_uc002epq.4_Non-coding_Transcript|CMTM1_uc010cds.3_Non-coding_Transcript|CMTM1_uc002epn.4_3'UTR|CMTM1_uc002eps.3_Non-coding_Transcript|CMTM2_uc002ept.3_5'Flank|CMTM2_uc010cdu.3_5'Flank	NM_052999	NP_443725	Q8IZ96	CKLF1_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 1 (CMTM1), transcript variant 17, mRNA.	154					chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CCCCCGCCAAGGACGCCTACC	0.612000														28			27		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91760626	91760626	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:91760626T>A	uc010aty.3	-	22	4157	c.4003A>T	c.(4003-4005)Aat>Tat	p.N1335Y		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1335					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGGTGATGATTTTCTTCCTCC	0.537000														40			33		0	0	1	0	0
OR2Y1	134083	broad.mit.edu	37	5	180167054	180167054	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:180167054C>T	uc003mmf.1	-	0	5	c.5G>A	c.(4-6)gGa>gAa	p.G2E		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTGAAACTTCCCATGGCCTT	0.428000														11			8		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94520757	94520757	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:94520757C>T	uc001dqh.3	-	15	2601	c.2497G>A	c.(2497-2499)Gaa>Aaa	p.E833K	ABCA4_uc010otn.1_Missense_Mutation_p.E759K	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	833					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)		AAGCTGAATTCGTCCCCTTCC	0.537000														7			42		0	0	1	0	0
POLI	11201	broad.mit.edu	37	18	51820450	51820450	+	Silent	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:51820450T>C	uc002lfj.4	+	9	1904	c.1836T>C	c.(1834-1836)tcT>tcC	p.S612S	POLI_uc010xds.2_Silent_p.S533S|POLI_uc002lfk.4_Silent_p.S509S|POLI_uc010dpg.3_Silent_p.S208S	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	Homo sapiens polymerase (DNA directed) iota (POLI), mRNA.	612	Ser-rich.				DNA repair|DNA replication	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GCAGTAGTTCTTCTTACATGT	0.353000								DNA polymerases (catalytic subunits)						27			21		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33579330	33579330	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:33579330C>T	uc001rll.1	-	1	549	c.252G>A	c.(250-252)tgG>tgA	p.W84*	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	84						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.C83F(1)|p.W84R(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GTTTGCTTTTCCAGCATGGCC	0.433000														9			10		0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124036365	124036365	+	Silent	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:124036365A>G	uc001lgc.1	+	2	329	c.78A>G	c.(76-78)aaA>aaG	p.K26K	BTBD16_uc001lgd.1_Silent_p.K25K	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	26										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)				GTTTGCCCAAACAGCCTTTCT	0.507000														13			32		0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132585262	132585262	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:132585262A>G	uc003kyn.1	-	6	952	c.734T>C	c.(733-735)gTt>gCt	p.V245A		NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	245						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)			GCTGAGCTGAACCACTTCTGC	0.602000											OREG0005128	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		18			6		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50209290	50209290	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:50209290G>A	uc010eng.3	+	10	1405	c.1089G>A	c.(1087-1089)caG>caA	p.Q363Q	CPT1C_uc002ppl.4_Silent_p.Q329Q|CPT1C_uc002ppi.3_Silent_p.Q280Q|CPT1C_uc002ppk.3_Silent_p.Q352Q|CPT1C_uc010enh.3_Silent_p.Q363Q|CPT1C_uc002ppj.3_Silent_p.Q363Q|CPT1C_uc010ybc.1_Silent_p.Q234Q|CPT1C_uc010eni.1_Silent_p.Q20Q	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	363					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		AGCAGTTTCAGAGAATCCTGG	0.637000														6			57		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155295205	155295205	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:155295205G>A	uc002tyt.4	+	9	1601	c.1497G>A	c.(1495-1497)atG>atA	p.M499I	GALNT13_uc002tyr.4_Missense_Mutation_p.M499I|GALNT13_uc010fod.3_Missense_Mutation_p.E232K|AX746678_uc002tyu.1_Intron	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	499	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GCCACCATATGAGAGGAAATC	0.333000														34			24		0	0	1	0	0
SSX7	280658	broad.mit.edu	37	X	52682454	52682454	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:52682454C>T	uc004dqx.1	-	2	228	c.69_splice	c.e2+1	p.K23_splice		NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 7 (SSX7), mRNA.	23	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)					GTCACCTCACCTTTTGGATCT	0.562000														27			71		0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62363555	62363555	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:62363555G>A	uc001ntq.2	-	11	1431	c.1041C>T	c.(1039-1041)atC>atT	p.I347I	MTA2_uc010rlx.1_Silent_p.I174I	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	347					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						CCACAGAAATGATCTGGTTAG	0.488000														24			14		0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510223	5510223	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:5510223C>T	uc010qzg.2	+	0	309	c.287C>T	c.(286-288)tCc>tTc	p.S96F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGAGATTTCCTTTGGTGGA	0.498000														34			21		0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170558	58170558	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:58170558C>T	uc010rkf.2	-	0	325	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGGTAATTTTCCACAGTGGCA	0.458000														40			36		0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86050686	86050686	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:86050686G>A	uc003ycw.3	+	16	3024	c.2816G>A	c.(2815-2817)aGa>aAa	p.R939K	LRRCC1_uc003ycy.3_Missense_Mutation_p.R919K	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	939					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AAAGCGGAAAGAGACAAAAGT	0.323000														48			21		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38651405	38651405	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:38651405C>T	uc021wvo.1	-	5	806	c.754G>A	c.(754-756)Gat>Aat	p.D252N	SCN5A_uc021wvk.1_Missense_Mutation_p.D252N|SCN5A_uc021wvl.1_Missense_Mutation_p.D252N|SCN5A_uc021wvm.1_Missense_Mutation_p.D252N|SCN5A_uc021wvn.1_Missense_Mutation_p.D252N|SCN5A_uc021wvp.1_Missense_Mutation_p.D252N|SCN5A_uc021wvq.1_Missense_Mutation_p.D252N|SCN5A_uc021wvr.1_Missense_Mutation_p.D252N|SCN5A_uc021wvs.1_Missense_Mutation_p.D252N|SCN5A_uc021wvt.1_Missense_Mutation_p.D252N|SCN5A_uc021wvu.1_Missense_Mutation_p.D252N|SCN5A_uc021wvv.1_Missense_Mutation_p.D252N|SCN5A_uc021wvj.1_Missense_Mutation_p.D118N|SCN5A_uc021wvi.1_Missense_Mutation_p.D118N|SCN5A_uc010hhl.1_Missense_Mutation_p.D75N	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	252					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)	ACCATCACATCAGCCAGCTTC	0.597000														34			24		0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189681855	189681855	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:189681855G>A	uc011bsk.2	-	13	2314	c.1926C>T	c.(1924-1926)atC>atT	p.I642I	LEPREL1_uc003fsg.3_Silent_p.I461I	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	642	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	p.M641T(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATGAGAAGCTGATCATGCGCC	0.448000														34			32		0	0	1	0	0
POU5F1P3	642559	broad.mit.edu	37	12	8287143	8287143	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:8287143C>T	uc010sgi.2	-	0	306	c.305G>A	c.(304-306)gGg>gAg	p.G102E	CLEC4A_uc001qtz.1_Intron|CLEC4A_uc009zga.1_Intron|CLEC4A_uc001qub.1_Intron|CLEC4A_uc001quc.1_Intron|CLEC4A_uc009zgb.1_Intron|POU5F1P3_uc010sgj.1_Non-coding_Transcript					Homo sapiens POU class 5 homeobox 1 pseudogene 3 (POU5F1P3), non-coding RNA.																		GCTCTCCACCCCGACTCCTGC	0.657000														11			4		0	0	1	0	0
ZDHHC11	79844	broad.mit.edu	37	5	840728	840728	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:840728G>A	uc011cma.1	-	4	1050	c.666C>T	c.(664-666)ccC>ccT	p.P222P	ZDHHC11_uc010itd.1_Non-coding_Transcript|ZDHHC11_uc003jbk.3_Silent_p.P9P	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Homo sapiens zinc finger, DHHC-type containing 11 (ZDHHC11), mRNA.	222						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CCGGGAACAGGGGGAGGAACA	0.592000														269			89		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140795001	140795001	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140795001C>T	uc003lkl.2	+	0	2259	c.2259C>T	c.(2257-2259)ttC>ttT	p.F753F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Silent_p.F753F|PCDHGC5_uc003lkm.3_5'Flank|PCDHGC5_uc003lkn.2_5'Flank	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	759					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)			TTCGGGCTTTCCTGCAGACCT	0.627000														47			29		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32035732	32035732	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:32035732C>T	uc003nzl.2	-	17	6452	c.6250G>A	c.(6250-6252)Gaa>Aaa	p.E2084K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2156	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						ATGCTGGGTTCTGTGGGGCTG	0.632000														339			134		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55955603	55955603	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:55955603T>G	uc003has.3	-	24	3644	c.3342A>C	c.(3340-3342)gaA>gaC	p.E1114D	KDR_uc003hat.1_Missense_Mutation_p.E1114D	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1114	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GCCTACAAAATTCTTCATCAA	0.378000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				20			16		0	0	1	0	0
C20orf152	140894	broad.mit.edu	37	20	34611587	34611587	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:34611587C>T	uc002xer.1	+	10	1477	c.1321C>T	c.(1321-1323)Ctg>Ttg	p.L441L	C20orf152_uc002xes.1_Intron|C20orf152_uc010gfp.1_Intron	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	445										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					CCTGATGAGCCTGGGAAATGA	0.428000														38			29		0	0	1	0	0
HORMAD2	150280	broad.mit.edu	37	22	30517760	30517760	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:30517760C>T	uc003agy.3	+	8	615	c.550C>T	c.(550-552)Ctc>Ttc	p.L184F		NM_152510	NP_689723	Q8N7B1	HORM2_HUMAN	Homo sapiens HORMA domain containing 2 (HORMAD2), mRNA.	184	HORMA.				meiosis|mitosis	chromosome|nucleus				large_intestine(1)|lung(1)	2			Epithelial(10;0.125)			TACTATGAAACTCCACTACTA	0.363000														5			6		0	0	1	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767794	143767794	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:143767794G>A	uc001ejt.3	-	0	88	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	19	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity	p.R19C(2)|p.R19S(2)		breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						ATGGAGATGCGGCCCAAGGGC	0.498000														120			105		0	0	1	0	0
TACSTD2	4070	broad.mit.edu	37	1	59042193	59042193	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:59042193C>T	uc001cyz.4	-	0	974	c.636G>A	c.(634-636)aaG>aaA	p.K212K		NM_002353	NP_002344	P09758	TACD2_HUMAN	Homo sapiens tumor-associated calcium signal transducer 2 (TACSTD2), mRNA.	212					cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					CACCGGCGGCCTTCTGAGACG	0.647000														5			4		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15851708	15851708	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:15851708G>A	uc002ddx.3	-	13	1679	c.1572C>T	c.(1570-1572)ccC>ccT	p.P524P	MYH11_uc002ddv.3_Silent_p.P524P|MYH11_uc002ddw.3_Silent_p.P517P|MYH11_uc002ddy.3_Silent_p.P517P|MYH11_uc010bvg.3_Silent_p.P349P|MYH11_uc002dea.1_Silent_p.P223P	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	517	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCTCGATGCAGGGCTGTAGGT	0.622000			T	CBFB	AML									26			16		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40959559	40959559	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:40959559G>A	uc003jmh.3	+	11	1612	c.1498G>A	c.(1498-1500)Gat>Aat	p.D500N	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	500	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AGGAGGGGTTGATGGAGGTTG	0.488000														5			11		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800611	70800611	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:70800611C>T	uc003tvy.3	+	1	314	c.314C>T	c.(313-315)cCg>cTg	p.P105L	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	105						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ACTCTTTCCCCGGCTGAAGAA	0.473000														42			30		0	0	1	0	0
KIF25	3834	broad.mit.edu	37	6	168434624	168434624	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:168434624G>A	uc003qwk.1	+	3	492	c.230G>A	c.(229-231)gGa>gAa	p.G77E	KIF25_uc003qwl.1_Missense_Mutation_p.G77E	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	77	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		ACCATGCTGGGACGCCATTCG	0.522000														29			18		0	0	1	0	0
MTA1	9112	broad.mit.edu	37	14	105936237	105936237	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:105936237C>T	uc001yqx.3	+	19	2092	c.1905C>T	c.(1903-1905)atC>atT	p.I635I	MTA1_uc001yqy.3_3'UTR|MTA1_uc021seq.1_Silent_p.I623I|MTA1_uc001yrb.3_Silent_p.I400I	NM_004689	NP_004680	Q13330	MTA1_HUMAN	Homo sapiens metastasis associated 1 (MTA1), transcript variant 1, mRNA.	635					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		TGCGCCTGATCCGGGGGGGCT	0.672000														5			6		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701219	192701219	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:192701219C>T	uc002utb.3	-	1	1063	c.708G>A	c.(706-708)ctG>ctA	p.L236L		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	236						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CCACTTTCTTCAGGCTGGATC	0.468000														89			76		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72991358	72991358	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:72991358G>A	uc002fck.3	-	1	3360	c.2687C>T	c.(2686-2688)gCc>gTc	p.A896V	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	896					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.P895S(1)		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)				CATGGGCCCGGCGGGATCCAG	0.547000														64			42		0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204125	9204125	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:9204125G>A	uc010xkj.2	+	0	205	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V69I(4)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGTCCCTGGTTGATTTCTG	0.557000														61			4		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39908455	39908455	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:39908455C>A	uc021olw.1	+	42	14503	c.14503C>A	c.(14503-14505)Ctt>Att	p.L4835I	MACF1_uc021ols.1_Missense_Mutation_p.L4330I|MACF1_uc021olt.1_Missense_Mutation_p.L4333I	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6401					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)			CAATGAGCTTCTTGAATCCAG	0.438000														17			11		4.3838e-07	4.40219e-07	1	1	0
ASCC3	10973	broad.mit.edu	37	6	100957947	100957947	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:100957947G>A	uc003pqk.3	-	40	6651	c.6322C>T	c.(6322-6324)Ccc>Tcc	p.P2108S		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	2108	SEC63 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTTGATTTGGGAAATCGAGGA	0.358000														93			92		0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2191038	2191038	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:2191038C>T	uc001lvq.3	-	2	266	c.247G>A	c.(247-249)Gcg>Acg	p.A83T	TH_uc001lvp.3_Missense_Mutation_p.A79T|TH_uc001lvr.3_Missense_Mutation_p.A52T|TH_uc010qxj.2_Missense_Mutation_p.A56T|TH_uc001lvs.3_Missense_Mutation_p.A52T|TH_uc001lvt.3_Missense_Mutation_p.A56T|TH_uc009ydh.1_5'Flank	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	83					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)	GCTGCCACCGCCGCCTCCCGC	0.701000														10			7		0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90176402	90176402	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:90176402G>C	uc002bof.2	-	12	2765	c.2688C>G	c.(2686-2688)aaC>aaG	p.N896K	KIF7_uc010upw.1_Missense_Mutation_p.N382K	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	896					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)			CCACAGAGCCGTTGCTGCCAC	0.627000														13			5		0	0	1	0	0
MPPED2	744	broad.mit.edu	37	11	30435775	30435775	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:30435775C>T	uc001msr.3	-	5	887	c.766_splice	c.e5+1	p.G256_splice	MPPED2_uc001msq.3_Splice_Site_p.V256_splice|MPPED2_uc009yji.3_Splice_Site_p.G130_splice	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	Homo sapiens metallophosphoesterase domain containing 2 (MPPED2), transcript variant 1, mRNA.	256					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CTGTTCTTACCTTCATGGATT	0.453000														22			19		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3205548	3205548	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:3205548C>T	uc022aqr.1	-	21	3830	c.3440G>A	c.(3439-3441)cGa>cAa	p.R1147Q	CSMD1_uc011kwj.2_Missense_Mutation_p.R540Q|CSMD1_uc003wqe.3_Missense_Mutation_p.R304Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1148	CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTGGAAGCTTCGTGTTCTAAG	0.358000														5			7		0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215368397	215368397	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:215368397G>T	uc001hkq.3	+	5	1094	c.925G>T	c.(925-927)Gat>Tat	p.D309Y	KCNK2_uc001hko.3_Missense_Mutation_p.D305Y|KCNK2_uc009xdm.3_Non-coding_Transcript|KCNK2_uc001hkp.3_Non-coding_Transcript|KCNK2_uc010pua.1_Non-coding_Transcript|KCNK2_uc001hkr.4_Missense_Mutation_p.D294Y	NM_001017425	NP_001017425	O95069	KCNK2_HUMAN	Homo sapiens potassium channel, subfamily K, member 2 (KCNK2), transcript variant 3, mRNA.	309				DWL -> RLV (in Ref. 3; AAD01203).			outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CATGATTGGAGATTGGCTCCG	0.373000														87			144		1.53895e-85	1.56844e-85	1	1	0
CD40	958	broad.mit.edu	37	20	44751838	44751838	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:44751838A>T	uc002xrg.1	+	4	554	c.477A>T	c.(475-477)gaA>gaT	p.E159D	CD40_uc002xrf.1_3'UTR|CD40_uc002xrh.1_Missense_Mutation_p.E159D|CD40_uc002xrj.1_Intron|CD40_uc002xrk.1_Intron	NM_001250	NP_001241	P25942	TNR5_HUMAN	Homo sapiens CD40 molecule, TNF receptor superfamily member 5 (CD40), transcript variant 1, mRNA.	159					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of endothelial cell apoptosis|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	p.E159K(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CTGCTTTCGAAAAATGTCACC	0.537000									Immune Deficiency with Hyper-IgM					75			60		0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135368917	135368917	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:135368917C>T	uc001lno.2	-	11	961	c.856G>A	c.(856-858)Gga>Aga	p.G286R	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.G158R|SYCE1_uc009ybn.2_Missense_Mutation_p.G286R|SYCE1_uc001lnn.2_Missense_Mutation_p.G250R	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA.	286	Gln-rich.				cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		ACTTGCATTCCATGCTTTTCC	0.562000														18			40		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121702	38121702	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:38121702C>T	uc003atr.3	+	6	3410	c.3139C>T	c.(3139-3141)Cct>Tct	p.P1047S	TRIOBP_uc003atu.3_Missense_Mutation_p.P875S|TRIOBP_uc003atq.1_Missense_Mutation_p.P1047S|TRIOBP_uc003ats.1_Missense_Mutation_p.P875S	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1047					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)					GCCCCGCGCCCCTGAGAGTGA	0.667000														61			34		0	0	1	0	0
DTWD2	285605	broad.mit.edu	37	5	118264253	118264253	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:118264253G>A	uc003ksa.3	-	3	610	c.576C>T	c.(574-576)tcC>tcT	p.S192S		NM_173666	NP_775937	Q8NBA8	DTWD2_HUMAN	Homo sapiens DTW domain containing 2 (DTWD2), mRNA.	192										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		GTCGGAACAAGGAGTTCTTAT	0.313000														25			26		0	0	1	0	0
HSD17B4	3295	broad.mit.edu	37	5	118835027	118835027	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:118835027C>T	uc003ksj.3	+	12	1121	c.988C>T	c.(988-990)Cag>Tag	p.Q330*	HSD17B4_uc011cwh.2_Nonsense_Mutation_p.Q312*|HSD17B4_uc011cwg.2_Nonsense_Mutation_p.Q306*|HSD17B4_uc011cwi.2_Nonsense_Mutation_p.Q355*|HSD17B4_uc003ksk.4_Nonsense_Mutation_p.Q183*|HSD17B4_uc011cwj.2_Nonsense_Mutation_p.Q183*|HSD17B4_uc010jcn.2_Nonsense_Mutation_p.Q68*	NM_000414	NP_000405	P51659	DHB4_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), transcript variant 2, mRNA.	330	Enoyl-CoA hydratase 2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	AGCTATTGGCCAGAAACTCCC	0.338000														27			15		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63468177	63468177	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:63468177C>T	uc001xfx.3	-	4	356	c.305_splice	c.e4-1	p.R102_splice	KCNH5_uc001xfy.3_Splice_Site_p.R102_splice|KCNH5_uc001xfz.1_Splice_Site_p.R44_splice|KCNH5_uc001xga.3_Splice_Site_p.R44_splice	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	102	PAC.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AACAGGGGTTCCTGTAACAGA	0.438000														11			7		0	0	1	0	0
GSTA2	2939	broad.mit.edu	37	6	52616499	52616499	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:52616499T>C	uc003pay.3	-	5	572	c.422A>G	c.(421-423)aAg>aGg	p.K141R		NM_000846	NP_000837	P09210	GSTA2_HUMAN	Homo sapiens glutathione S-transferase alpha 2 (GSTA2), mRNA.	141	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	TCCGTGGCTCTTTAAGACCTG	0.542000														41			41		0	0	1	0	0
LONRF3	79836	broad.mit.edu	37	X	118123394	118123394	+	Silent	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:118123394T>C	uc004eqw.3	+	3	1114	c.1083T>C	c.(1081-1083)tgT>tgC	p.C361C	LONRF3_uc004eqx.3_Silent_p.C320C|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_Silent_p.C105C	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.	361					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TCCCACATTGTTCTAGTCAGG	0.502000														9			30		0	0	1	0	0
MS4A2	2206	broad.mit.edu	37	11	59857202	59857202	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:59857202G>A	uc001nop.3	+	1	196	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	MS4A2_uc009ymu.3_Missense_Mutation_p.E32K|MS4A2_uc021qka.1_Missense_Mutation_p.E32K	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.	32					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)	ATCTCCCCAGGAAGTATCTTC	0.453000														30			25		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814408	106814408	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:106814408G>A	uc003ymd.3	+	7	2121	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	ZFPM2_uc011lhs.2_Missense_Mutation_p.E431K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	700					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAGCCGGCACGAAACATACAT	0.488000														24			9		0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158436122	158436122	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:158436122C>T	uc010pij.2	+	0	771	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	257					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)					GTGCCTCTTTCATCTACTTAA	0.423000														44			67		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394530	154394530	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:154394530G>A	uc010jih.1	+	0	1271	c.1111G>A	c.(1111-1113)Ggt>Agt	p.G371S		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	371					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)			AGCCCATGGAGGTACCCTGCC	0.418000														60			58		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179463874	179463874	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:179463874G>A	uc021vsy.1	-	239	49168	c.48943_splice	c.e239+1	p.S16315_splice	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Splice_Site_p.S10010_splice|TTN_uc021vta.1_Splice_Site_p.S9943_splice|TTN_uc021vtb.1_Splice_Site_p.S9818_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17242							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)			CCTACTTACAGAAGAGGTTTC	0.368000														133			92		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39801114	39801114	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:39801114G>A	uc021olw.1	+	0	4174	c.4174G>A	c.(4174-4176)Gaa>Aaa	p.E1392K	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2957					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)			AACATATTGTGAAACGTCAGG	0.393000														4			30		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234040833	234040833	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:234040833C>T	uc001hvy.1	+	0	155	c.10C>T	c.(10-12)Cga>Tga	p.R4*		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)			TATGGGGATTCGAGAGTTTCC	0.711000														2			3		0	0	1	0	0
RRAD	6236	broad.mit.edu	37	16	66956118	66956118	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:66956118C>T	uc002eqn.2	-	4	940	c.788G>A	c.(787-789)cGa>cAa	p.R263Q	RRAD_uc002eqo.2_Missense_Mutation_p.R263Q	NM_001128850	NP_004156	P55042	RAD_HUMAN	Homo sapiens Ras-related associated with diabetes (RRAD), transcript variant 1, mRNA.	263					small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		TGCTTGCCGTCGTGCGTTGGC	0.597000														40			22		0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36171103	36171103	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:36171103C>T	uc003zzb.4	+	0	1715	c.1604C>T	c.(1603-1605)aCt>aTt	p.T535I		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	535					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GGTGTCACCACTGCCAGCGAT	0.537000														8			32		0	0	1	0	0
CMTM5	116173	broad.mit.edu	37	14	23847989	23847989	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:23847989C>T	uc010akm.3	+	2	835	c.391C>T	c.(391-393)Cca>Tca	p.P131S	CMTM5_uc010akn.3_Intron|CMTM5_uc001wju.3_Intron|CMTM5_uc010ako.3_Intron|CMTM5_uc001wjs.3_Intron|CMTM5_uc001wjt.3_Intron	NM_138460	NP_612469	Q96DZ9	CKLF5_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 5 (CMTM5), transcript variant 1, mRNA.	131	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CTGGCATACTCCAGCCGCTGT	0.642000														26			9		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65907666	65907666	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:65907666T>G	uc002jgf.3	+	10	3727	c.3666T>G	c.(3664-3666)agT>agG	p.S1222R	BPTF_uc002jge.3_Missense_Mutation_p.S1348R	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1348					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)			AACTAGCCAGTGCAGATGATA	0.388000														21			15		0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242194856	242194856	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:242194856G>A	uc002waz.3	-	7	1186	c.1013C>T	c.(1012-1014)tCt>tTt	p.S338F	HDLBP_uc002wba.3_Missense_Mutation_p.S338F|HDLBP_uc021vzg.1_Intron|HDLBP_uc010fzn.1_Missense_Mutation_p.S67F	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	338	KH 3.				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)		TACAGTCTCAGAGATGCTGTC	0.493000														37			21		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20077463	20077463	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:20077463C>T	uc010rdm.2	+	19	5221	c.4860C>T	c.(4858-4860)acC>acT	p.T1620T	NAV2_uc001mpp.3_Silent_p.T1533T|NAV2_uc001mpr.4_Silent_p.T1597T|NAV2_uc021qew.1_Silent_p.T1597T|NAV2_uc001mpt.2_Silent_p.T646T|NAV2_uc009yhx.3_Silent_p.T661T|NAV2_uc009yhy.1_Silent_p.T559T|NAV2_uc009yhz.3_Silent_p.T242T|NAV2_uc001mpu.3_Silent_p.T35T	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	1620	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGAGCAGAACCATGAGCCGTT	0.507000														25			19		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716965	13716965	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:13716965G>A	uc001rbt.2	-	12	3386	c.3207C>T	c.(3205-3207)acC>acT	p.T1069T		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1069					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGTTCCCATAGGTGACGGTGT	0.572000														29			7		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196311220	196311220	+	Silent	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:196311220A>G	uc001gtd.1	-	14	1602	c.1542T>C	c.(1540-1542)caT>caC	p.H514H	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Intron|KCNT2_uc001gtf.1_Silent_p.H514H|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Silent_p.H514H|KCNT2_uc001gth.1_Silent_p.H35H	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	514	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTTGTGTGCATGGAAAGAGG	0.333000														20			33		0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20004618	20004618	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:20004618C>T	uc001umd.3	-	17	1503	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.G320E|TPTE2_uc001ume.3_Missense_Mutation_p.G354E|TPTE2_uc009zzm.3_Missense_Mutation_p.G102E|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.G102E	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	431	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGAACAATTTCCTAATGAAGT	0.328000														24			5		0	0	1	0	0
DARS	1615	broad.mit.edu	37	2	136691503	136691503	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:136691503G>A	uc002tux.1	-	5	665	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	DARS_uc010fnj.1_Missense_Mutation_p.R61W	NM_001349	NP_001340	P14868	SYDC_HUMAN	Homo sapiens aspartyl-tRNA synthetase (DARS), mRNA.	161					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	ATP binding|aminoacylase activity|aspartate-tRNA ligase activity|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	GCCTCAGGCCGAACAGCATCA	0.388000														19			14		0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869964	4869964	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:4869964G>A	uc010qyo.2	-	0	475	c.475C>T	c.(475-477)Cga>Tga	p.R159*		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R159Q(2)		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)		CCCAGGCATCGAAAAGAAATG	0.542000														54			48		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16025993	16025993	+	Nonsense_Mutation	SNP	G	A	A	rs148631001		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:16025993G>A	uc010lsu.3	-	3	722	c.658C>T	c.(658-660)Caa>Taa	p.Q220*	MSR1_uc003wwz.3_Nonsense_Mutation_p.Q202*|MSR1_uc003wxa.3_Nonsense_Mutation_p.Q202*|MSR1_uc003wxb.3_Nonsense_Mutation_p.Q202*|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	202					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)		GTATTCTCTTGGATTTTGCCA	0.403000														31			11		0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664092	169664092	+	RNA	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:169664092G>A	uc011bpp.2	-	1		c.3711C>T								Homo sapiens four and a half LIM domains 1 pseudogene (LOC100128164), transcript variant 1, non-coding RNA.																		AAGTCACACAGTAGAAGTCCT	0.502000														24			15		0	0	1	0	0
CCDC12	151903	broad.mit.edu	37	3	46964839	46964839	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:46964839G>A	uc011baq.2	-	3	612	c.603C>T	c.(601-603)ctC>ctT	p.L201L	CCDC12_uc003cqo.2_Silent_p.L120L	NM_144716	NP_653317	Q8WUD4	CCD12_HUMAN	Homo sapiens coiled-coil domain containing 12 (CCDC12), mRNA.	107										endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		TCCGAGGAGCGAGGTTGGCCA	0.667000											OREG0015545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			10		0	0	1	0	0
FBXO4	26272	broad.mit.edu	37	5	41934071	41934071	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:41934071C>T	uc003jmq.3	+	3	726	c.670C>T	c.(670-672)Cag>Tag	p.Q224*	FBXO4_uc003jmp.3_Nonsense_Mutation_p.Q224*	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN	Homo sapiens F-box protein 4 (FBXO4), transcript variant 1, mRNA.	224					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein polyubiquitination|telomere maintenance|ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex|cytoplasm	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				AGTCAATTTTCAGTTGAACAA	0.323000														26			15		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668454	176668455	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:176668454_176668455GA>AC	uc001gkz.3	+	7	4129_4130	c.2965_2966GA>AC	c.(2965-2967)gaa>ACa	p.E989T	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	989					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						GATCTTGCTGGAAAACAAGGAG	0.554000														191			67		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6188922	6188922	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:6188922C>T	uc001amb.2	-	22	3706	c.3595G>A	c.(3595-3597)Gaa>Aaa	p.E1199K	CHD5_uc001alz.2_Missense_Mutation_p.E56K|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.	1199					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)		TTGAAGAGTTCCTCCGTGCCG	0.657000														20			16		0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180115	124180115	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:124180115G>A	uc010sag.2	-	0	548	c.548C>T	c.(547-549)cCc>cTc	p.P183L		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ATTGAGGAGGGGAAGAACATC	0.458000														5			14		0	0	1	0	0
INO80D	54891	broad.mit.edu	37	2	206874380	206874380	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:206874380G>A	uc002vaz.4	-	8	2086	c.1681C>T	c.(1681-1683)Ccc>Tcc	p.P561S		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	561					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GGTGGAATGGGTTTTTGGGGT	0.577000														43			26		0	0	1	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73444715	73444715	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:73444715G>A	uc001xnm.3	-	7	2276	c.1555C>T	c.(1555-1557)Cgt>Tgt	p.R519C	ZFYVE1_uc001xnl.3_Missense_Mutation_p.R104C|ZFYVE1_uc010arj.3_Intron	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	Homo sapiens zinc finger, FYVE domain containing 1 (ZFYVE1), transcript variant 1, mRNA.	519						Golgi stack|endoplasmic reticulum|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	p.Y518C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TGCCGACTACGATAGACCACG	0.498000														30			31		0	0	1	0	0
C16orf92	146378	broad.mit.edu	37	16	30035187	30035187	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:30035187C>T	uc002dvr.2	+	1	211	c.204C>T	c.(202-204)ccC>ccT	p.P68P	BOLA2_uc010bzb.1_Intron|C16orf92_uc002dvs.2_Silent_p.P90P	NM_001109659	NP_001103129	Q96LL3	CP092_HUMAN	Homo sapiens chromosome 16 open reading frame 92 (C16orf92), transcript variant 1, mRNA.	90						integral to membrane				breast(3)|lung(3)	6						GAGAGAAACCCATCGTGTTCA	0.557000														33			17		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35086390	35086390	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:35086390C>T	uc003jjm.3	-	3	682	c.123G>A	c.(121-123)aaG>aaA	p.K41K	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Silent_p.K41K|PRLR_uc003jjh.2_Silent_p.K41K|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Silent_p.K41K|PRLR_uc003jjl.4_Intron|PRLR_uc021xxl.1_Silent_p.K41K|PRLR_uc010iuw.1_5'UTR	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	41	Fibronectin type-III 1.				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)	TGAATGTTTCCTTATTGGGAG	0.458000														33			22		0	0	1	0	0
CNTD2	79935	broad.mit.edu	37	19	40732323	40732323	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:40732323C>T	uc010xvi.2	-	0	275	c.226G>A	c.(226-228)Gga>Aga	p.G76R	CNTD2_uc002ond.3_Non-coding_Transcript	NM_024877	NP_079153	B4DX65	B4DX65_HUMAN	Homo sapiens cyclin N-terminal domain containing 2 (CNTD2), transcript variant 2, mRNA.	76					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						TCGCGTTCTCCCTGCAGCCCC	0.751000														30			7		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227922301	227922301	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:227922301G>A	uc021vxr.1	-	27	2500	c.2399C>T	c.(2398-2400)cCt>cTt	p.P800L	COL4A4_uc021vxs.1_Missense_Mutation_p.P800L	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	800	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)		TAGGAATCCAGGAATGCCAGC	0.478000														23			8		0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5785332	5785332	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:5785332C>T	uc003gil.1	+	11	1801	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	539					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ATGCCCTGTTCCTTCAGACGC	0.592000														49			40		0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48919578	48919578	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:48919578T>A	uc010slu.2	+	0	164	c.164T>A	c.(163-165)cTc>cAc	p.L55H		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GATTCTTGTCTCCATAAGCCC	0.483000														59			44		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117585	117585	+	RNA	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrGL000205.1:117585C>T	uc002kgk.4	+	0		c.963C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGACAGCCGACTCCACCACCG	0.617000														19			3		0	0	1	0	0
SLA2	84174	broad.mit.edu	37	20	35262025	35262025	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:35262025C>T	uc002xfv.3	-	3	622	c.199G>A	c.(199-201)Gac>Aac	p.D67N	SLA2_uc002xfu.3_Missense_Mutation_p.D67N	NM_032214	NP_115590	Q9H6Q3	SLAP2_HUMAN	Homo sapiens Src-like-adaptor 2 (SLA2), transcript variant 1, mRNA.	67	SH3.				B cell mediated immunity|T cell activation|antigen receptor-mediated signaling pathway|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	SH3/SH2 adaptor activity|protein N-terminus binding			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GTCCACCAGTCTCCATCCCTG	0.597000														25			22		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739587	38739587	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:38739587G>A	uc003ciq.3	-	26	5124	c.5124C>T	c.(5122-5124)atC>atT	p.I1708I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1708					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)	TGAGGAAGGAGATGATGATGT	0.542000														38			32		0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39103850	39103850	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:39103850G>A	uc004abi.3	-	15	2666	c.2427C>T	c.(2425-2427)ttC>ttT	p.F809F	CNTNAP3_uc004abj.3_Silent_p.F808F|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.F809F	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	809	Laminin G-like 3.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTTCTCCGTGGAAAGCAGGGA	0.428000														9			8		0	0	1	0	0
PIGS	94005	broad.mit.edu	37	17	26881493	26881493	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:26881493G>A	uc002hbo.2	-	11	1786	c.1413C>T	c.(1411-1413)gcC>gcT	p.A471A	UNC119_uc002hbk.2_5'Flank|UNC119_uc002hbm.2_5'Flank|PIGS_uc002hbn.2_Silent_p.A463A|PIGS_uc010wap.1_Silent_p.A410A	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class S (PIGS), mRNA.	471					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					ACTTCTGGACGGCAGCTACAG	0.557000														76			32		0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878925	5878925	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:5878925C>T	uc010qzr.2	-	0	8	c.8G>A	c.(7-9)gGa>gAa	p.G3E	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGACATTCTTCCTGCCATATA	0.423000														50			36		0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45322740	45322740	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:45322740C>T	uc002ozu.3	+	11	1655	c.1611C>T	c.(1609-1611)ttC>ttT	p.F537F	BCAM_uc002ozt.1_Silent_p.F537F	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	537	Ig-like C2-type 3.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	p.F537F(2)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TCTTCCACTTCGGCACCGGTG	0.642000														48			354		0	0	1	0	0
FABP1	2168	broad.mit.edu	37	2	88425733	88425733	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:88425733C>T	uc002sst.2	-	1	316	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K		NM_001443	NP_001434	P07148	FABPL_HUMAN	Homo sapiens fatty acid binding protein 1, liver (FABP1), mRNA.	68					organ morphogenesis			p.E67D(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						AGCTCACATTCCTCCCCCACC	0.527000														123			79		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108035946	108035946	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:108035946C>T	uc001tmk.1	+	13	3441	c.2920C>T	c.(2920-2922)Cag>Tag	p.Q974*	BTBD11_uc001tmj.3_Nonsense_Mutation_p.Q974*|BTBD11_uc001tml.1_Nonsense_Mutation_p.Q511*|BTBD11_uc001tmm.1_Nonsense_Mutation_p.Q53*	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	974	BTB.					integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTCCATCTTTCAGGTGAGCCC	0.522000														25			15		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31326539	31326540	+	Missense_Mutation	DNP	GC	TT	TT			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:31326539_31326540GC>TT	uc010dmg.1	+	11	6782_6783	c.6727_6728GC>TT	c.(6727-6729)gca>TTa	p.A2243L	ASXL3_uc002kxq.2_Missense_Mutation_p.A1950L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	2243					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						ACTTTGTGTAGCATGCCTGGTT	0.460000														38			21		0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75862300	75862300	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:75862300G>A	uc010oqz.1	-	1	203	c.137C>T	c.(136-138)cCa>cTa	p.P46L	SLC44A5_uc001dgt.2_Missense_Mutation_p.P7L|SLC44A5_uc001dgs.2_5'UTR|SLC44A5_uc001dgr.2_5'UTR|SLC44A5_uc001dgu.3_Missense_Mutation_p.P7L|SLC44A5_uc010ora.2_Intron|SLC44A5_uc010orb.2_5'UTR	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	7						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGTATCTGCTGGTTTTTCTAG	0.368000														8			53		0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3254555	3254555	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:3254555C>T	uc010uwu.2	+	0	309	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						AGATGTATTTCGTTTTCATGT	0.493000														103			69		0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885109	88885109	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:88885109G>A	uc003ydz.3	-	0	1188	c.1091C>T	c.(1090-1092)cCc>cTc	p.P364L		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	364										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						GGCCACACTGGGAATGTCGTT	0.602000														26			21		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141110552	141110552	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:141110552G>A	uc002tvj.1	-	75	12592	c.11620C>T	c.(11620-11622)Caa>Taa	p.Q3874*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3874	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)		TTTCTTTCTTGAAAATTCTGG	0.313000										TSP Lung(27;0.18)				43			29		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516537	140516537	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140516537G>A	uc003liq.3	+	0	1738	c.1521G>A	c.(1519-1521)gcG>gcA	p.A507A		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	507	Cadherin 5.				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)			CCATCAACGCGGACAACGGCC	0.677000														49			49		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101528919	101528919	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:101528919C>T	uc002bwr.3	+	4	833	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bwq.1_Silent_p.L172L	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	172					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTGAAGCTCCTGGTCCTGAC	0.632000														79			31		0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91502336	91502336	+	Missense_Mutation	SNP	C	T	T	rs143511085		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:91502336C>T	uc001tbm.3	-	1	810	c.421G>A	c.(421-423)Gat>Aat	p.D141N		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	141					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						AGCTGCAGATCCTCCAGAGAT	0.443000														36			42		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207643267	207643267	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:207643267G>A	uc001hfw.3	+	5	1164	c.1045G>A	c.(1045-1047)Gtt>Att	p.V349I	CR2_uc001hfv.3_Missense_Mutation_p.V349I|CR2_uc009xch.3_Missense_Mutation_p.V349I|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	349	Sushi 6.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.A348A(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TACTTCTGCGGTTCAGTGTCC	0.493000														27			37		0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42174719	42174719	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:42174719G>A	uc003baz.1	+	21	2743	c.2718G>A	c.(2716-2718)ggG>ggA	p.G906G	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Silent_p.G292G|MEI1_uc003bbc.1_Silent_p.G274G|MEI1_uc010gym.1_Intron|MEI1_uc003bbd.1_Silent_p.G149G|MEI1_uc010gyn.1_Non-coding_Transcript|MEI1_uc003bbe.1_Non-coding_Transcript|MEI1_uc011apf.1_5'Flank|MEI1_uc010gyo.1_5'Flank|MEI1_uc003bbg.2_5'Flank	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	906							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						CAGCCTCGGGGAACCTACCAT	0.547000														6			4		0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40659787	40659787	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:40659787C>T	uc001zlk.1	+	7	1563	c.1474C>T	c.(1474-1476)Ccc>Tcc	p.P492S		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	492	SSD.				smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CACGGTGTACCCCTTGCTGGC	0.622000														89			34		0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80788706	80788706	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:80788706G>A	uc002kga.3	-	2	1795	c.1484C>T	c.(1483-1485)tCt>tTt	p.S495F	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.	495						intracellular	zinc ion binding	p.A494T(1)		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)			CGAGACGAGAGAGGCGCTTCC	0.572000														39			25		0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5968801	5968801	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:5968801C>T	uc010qzt.2	+	0	225	c.225C>T	c.(223-225)atC>atT	p.I75I		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTGGACATCGTGCTCTGCC	0.592000														77			55		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28725590	28725590	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:28725590G>A	uc002kwn.3	-	6	1185	c.923C>T	c.(922-924)cCt>cTt	p.P308L	DSC1_uc002kwm.3_Missense_Mutation_p.P308L	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	308	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.T307I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ATCCAGAAAAGGTGTAGTTGT	0.378000														47			24		0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17837396	17837396	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:17837396C>T	uc002nhe.1	+	4	1212	c.1203C>T	c.(1201-1203)ccC>ccT	p.P401P	MAP1S_uc010eaz.2_Silent_p.P14P|MAP1S_uc010xpv.1_Silent_p.P375P	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	401	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	DNA binding|actin filament binding|beta-tubulin binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TGCACCCGCCCTCCGCCGGCG	0.726000														10			3		0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89896702	89896702	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:89896702G>A	uc001pdf.4	+	11	1305	c.1196_splice	c.e11-1	p.G399_splice	NAALAD2_uc009yvx.3_Splice_Site_p.G366_splice|NAALAD2_uc009yvy.3_Intron|NAALAD2_uc001pde.3_Splice_Site_p.G306_splice	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	399	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AATTCTTACAGGCTGGAGACC	0.388000														24			19		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16035485	16035485	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:16035485C>T	uc010lsu.3	-	1	131	c.67G>A	c.(67-69)Gat>Aat	p.D23N	MSR1_uc003wwz.3_Missense_Mutation_p.D5N|MSR1_uc003wxa.3_Missense_Mutation_p.D5N|MSR1_uc003wxb.3_Missense_Mutation_p.D5N|MSR1_uc011kxz.2_5'UTR	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	5			F -> C (in dbSNP:rs35175081).		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)		TGAAAGTGATCCCACTGCTCC	0.388000														20			10		0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184020522	184020522	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:184020522C>T	uc003fnn.1	+	6	952	c.919C>T	c.(919-921)Ctg>Ttg	p.L307L	PSMD2_uc011brj.1_Silent_p.L148L|PSMD2_uc011brk.1_Silent_p.L177L	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 (PSMD2), mRNA.	307					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GTTCCTGGAGCTGAGTGAAGA	0.532000														55			42		0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20048175	20048175	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:20048175G>A	uc001umd.3	-	6	482	c.271C>T	c.(271-273)Ctc>Ttc	p.L91F	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Missense_Mutation_p.L54F|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.	91						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)		TCGGCAAGGAGGAGAGTGACA	0.294000														59			26		0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77934491	77934491	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:77934491G>A	uc001ozh.3	-	5	1636	c.1534C>T	c.(1534-1536)Cct>Tct	p.P512S	GAB2_uc001ozg.3_Missense_Mutation_p.P474S	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.	512					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CGGTTGACAGGGGGTGGCTGA	0.547000														72			53		0	0	1	0	0
ZHX1	11244	broad.mit.edu	37	8	124267425	124267425	+	Silent	SNP	T	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:124267425T>A	uc003yqe.3	-	2	1372	c.762A>T	c.(760-762)gcA>gcT	p.A254A	C8orf76_uc003yqd.3_Intron|ZHX1_uc003yqf.3_Silent_p.A254A|ZHX1_uc003yqg.3_Intron|ZHX1_uc010mdi.3_Silent_p.A254A|ZHX1_uc022bak.1_Silent_p.A254A	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	Homo sapiens zinc fingers and homeoboxes 1 (ZHX1), transcript variant 2, mRNA.	254					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GAAGAACTGCTGCTGGTGTCA	0.408000														43			35		0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99798497	99798497	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:99798497G>A	uc003utx.1	+	18	2121	c.1966G>A	c.(1966-1968)Gaa>Aaa	p.E656K	STAG3_uc010lgs.1_Missense_Mutation_p.E444K|STAG3_uc011kjk.1_Missense_Mutation_p.E598K|GATS_uc010lgt.3_Non-coding_Transcript|GATS_uc003uty.4_Non-coding_Transcript|GATS_uc003utz.4_Non-coding_Transcript|GATS_uc003uua.4_3'UTR|STAG3_uc003uub.1_5'UTR	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	656					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGTAATCCCGAATTCACTTT	0.582000														42			31		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72144482	72144482	+	Nonsense_Mutation	SNP	G	A	A	rs145598484		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:72144482G>A	uc002atl.4	-	35	6939	c.6466C>T	c.(6466-6468)Cga>Tga	p.R2156*	MYO9A_uc002atk.3_Nonsense_Mutation_p.R951*	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	2156	Rho-GAP.|Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCCATAGCTCGAAGAAATTCC	0.418000														35			46		0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4736815	4736815	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:4736815C>T	uc001qnb.4	-	3	1497	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	418					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GTTCACATTTCGGTTTTTAGG	0.423000														51			41		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100373159	100373159	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:100373159G>A	uc003uwj.3	+	32	6151	c.5986G>A	c.(5986-5988)Gat>Aat	p.D1996N	ZAN_uc003uwk.3_Missense_Mutation_p.D1996N|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.D84N	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1997	VWFD 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGACATCTACGATGCCCAGGT	0.597000														14			14		0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	609185	609185	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:609185C>T	uc001lqe.3	+	13	3860	c.3729C>T	c.(3727-3729)ccC>ccT	p.P1243P	PHRF1_uc010qwc.2_Silent_p.P1242P|PHRF1_uc010qwd.2_Silent_p.P1241P|PHRF1_uc010qwe.2_Silent_p.P1239P|PHRF1_uc009ybz.1_Silent_p.P1033P|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	1243							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TGCAGGCTCCCCCTGTCCTGG	0.652000														46			19		0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43489561	43489561	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:43489561A>T	uc001zrb.4	-	12	2405	c.2105T>A	c.(2104-2106)aTg>aAg	p.M702K	EPB42_uc001zqz.4_Missense_Mutation_p.M339K|EPB42_uc001zra.4_Missense_Mutation_p.M672K|EPB42_uc010udm.2_Missense_Mutation_p.M594K	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	672					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GTTCTGGAACATGTTGCAGTC	0.502000														46			27		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108487691	108487691	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:108487691G>A	uc010ywk.2	+	19	3313	c.3231G>A	c.(3229-3231)tgG>tgA	p.W1077*	RGPD4_uc002tdu.3_Nonsense_Mutation_p.W264*|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1077	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TAAGGCAGTGGAAAGAAAGGG	0.393000														175			133		0	0	1	0	0
MORN3	283385	broad.mit.edu	37	12	122097174	122097174	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:122097174T>G	uc001uax.3	-	1	397	c.226A>C	c.(226-228)Acc>Ccc	p.T76P	MORN3_uc001uay.3_Non-coding_Transcript	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	Homo sapiens MORN repeat containing 3 (MORN3), mRNA.	76										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		AGGCTGAGGGTGCCGTAGCCG	0.567000														49			13		0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32831816	32831816	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr22:32831816G>A	uc003amn.2	-	7	799	c.799C>T	c.(799-801)Cct>Tct	p.P267S	BPIFC_uc010gwo.2_Missense_Mutation_p.P81S|BPIFC_uc011amb.1_5'UTR	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	267						extracellular region	lipopolysaccharide binding|phospholipid binding										AGCACAAAAGGAACTGGTGAG	0.473000														43			30		0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054102	29054102	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:29054102G>A	uc003nlx.3	-	0	989	c.924C>T	c.(922-924)atC>atT	p.I308I		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TACAGAAAAAGATTCTTGGCA	0.373000														35			13		0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58491146	58491146	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:58491146A>G	uc002qqw.3	-	6	1520	c.902T>C	c.(901-903)aTa>aCa	p.I301T	ZNF606_uc010yhp.2_Missense_Mutation_p.I211T	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AAAATGTATTATATGATTGAA	0.313000														5			74		0	0	1	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16852251	16852251	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:16852251G>A	uc002gqs.1	-	2	259	c.246C>T	c.(244-246)ctC>ctT	p.L82L	TNFRSF13B_uc010vwt.1_Non-coding_Transcript|TNFRSF13B_uc002gqt.1_Silent_p.L36L	NM_012452	NP_036584	O14836	TR13B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B), mRNA.	82					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						AGTCCCTCAGGAGATGGTCAT	0.527000									IgA Deficiency, Selective					44			35		0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97526994	97526994	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:97526994G>A	uc002sxg.4	-	12	2261	c.2030C>T	c.(2029-2031)gCc>gTc	p.A677V	SEMA4C_uc002sxf.4_Missense_Mutation_p.A124V|SEMA4C_uc002sxe.3_Missense_Mutation_p.A165V|SEMA4C_uc002sxh.4_Missense_Mutation_p.A624V	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	624					muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GCAGTGGTAGGCCCCGGCATG	0.711000														19			16		0	0	1	0	0
ZDHHC14	79683	broad.mit.edu	37	6	158066793	158066793	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:158066793C>T	uc003qqt.3	+	5	1274	c.777C>T	c.(775-777)ttC>ttT	p.F259F	ZDHHC14_uc003qqs.3_Silent_p.F259F|ZDHHC14_uc010kjn.3_5'UTR	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA.	259						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		TGGTGTGCTTCTTCTCTGTCT	0.552000														19			10		0	0	1	0	0
CYP21A2	1589	broad.mit.edu	37	6	32006998	32006998	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:32006998G>A	uc003nze.2	+	2	527	c.420G>A	c.(418-420)gtG>gtA	p.V140V	CYP21A2_uc003nzf.2_Silent_p.V110V	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	139					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						AGCCAGTGGTGGAGCAGCTGA	0.647000														144			61		0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100403258	100403258	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:100403258G>T	uc003uwn.1	-	14	3034	c.2543C>A	c.(2542-2544)tCc>tAc	p.S848Y	EPHB4_uc003uwm.1_Missense_Mutation_p.S755Y|EPHB4_uc010lhj.1_Missense_Mutation_p.S848Y	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	848	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTGGTGGAGGGAGGTGGGACA	0.627000														70			56		9.04393e-38	9.2107e-38	1	1	0
LRCH2	57631	broad.mit.edu	37	X	114357710	114357710	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:114357710C>T	uc010nqe.3	-	17	1926	c.1895G>A	c.(1894-1896)gGa>gAa	p.G632E	LRCH2_uc004epz.3_Missense_Mutation_p.G615E	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 2 (LRCH2), transcript variant 1, mRNA.	632										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						CATTGTAAATCCTGGATCTGC	0.408000														1			11		0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16745268	16745268	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:16745268G>A	uc010exm.2	-	3	435	c.287C>T	c.(286-288)tCc>tTc	p.S96F	FAM49A_uc002rck.2_Missense_Mutation_p.S96F	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	96						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TAGTCTAATGGAAAACTCGTA	0.418000														18			10		0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52901899	52901899	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:52901899C>T	uc002lga.3	-	16	1732	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	TCF4_uc021ukg.1_Missense_Mutation_p.E296K|TCF4_uc021ukh.1_Missense_Mutation_p.E296K|TCF4_uc002lfw.4_Missense_Mutation_p.E296K|TCF4_uc010xdu.1_Missense_Mutation_p.E326K|TCF4_uc010xdv.1_Missense_Mutation_p.E326K|TCF4_uc021uki.1_Missense_Mutation_p.E385K|TCF4_uc002lfx.2_Missense_Mutation_p.E385K|TCF4_uc010xdw.1_Missense_Mutation_p.E326K|TCF4_uc002lfy.2_Missense_Mutation_p.E414K|TCF4_uc010xdx.1_Missense_Mutation_p.E432K|TCF4_uc021ukj.1_Missense_Mutation_p.E396K|TCF4_uc021ukk.1_Missense_Mutation_p.E396K|TCF4_uc021ukl.1_Missense_Mutation_p.E453K|TCF4_uc002lfz.2_Missense_Mutation_p.E456K|TCF4_uc010dph.1_Missense_Mutation_p.E456K|TCF4_uc010dpi.3_Missense_Mutation_p.E462K|TCF4_uc010xdy.1_Missense_Mutation_p.E432K	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	456					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		ACGCCATCTTCACGATGGGTC	0.592000											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			42		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46825094	46825094	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:46825094G>A	uc002peh.3	+	9	1237	c.1206G>A	c.(1204-1206)ctG>ctA	p.L402L	HIF3A_uc002peg.4_Silent_p.L402L|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Silent_p.L346L|HIF3A_uc002pej.2_Silent_p.L333L|HIF3A_uc010xxy.2_Silent_p.L333L|HIF3A_uc002pel.3_Silent_p.L400L|HIF3A_uc010xxz.2_Silent_p.L351L	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGGCTGCCCTGGCCGCTGACC	0.692000														4			69		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229363	39229364	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:39229363_39229364CC>TT	uc003cjk.2	-	1	1802_1803	c.1573_1574GG>AA	c.(1573-1575)ggc>AAc	p.G525N	XIRP1_uc003cji.3_Missense_Mutation_p.G525N|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.G525N	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	525							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)		GGGGCTTCGGCCGAGCTGGTCT	0.624000														28			23		0	0	1	0	0
EEPD1	80820	broad.mit.edu	37	7	36324392	36324392	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:36324392A>C	uc003tfa.3	+	4	1779	c.1139A>C	c.(1138-1140)aAg>aCg	p.K380T		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA.	380					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GGGCACGGGAAGCTGGCGGGC	0.612000														43			39		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128626	126128626	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:126128626C>T	uc001uhe.1	+	5	1435	c.1427C>T	c.(1426-1428)tCc>tTc	p.S476F	TMEM132B_uc001uhf.1_5'UTR	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	476						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)		CCAAAGGTTTCCAACAACTGT	0.443000														34			21		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091512	74091512	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:74091512G>A	uc021ulp.1	-	3	2876	c.2558C>T	c.(2557-2559)cCc>cTc	p.P853L	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P853L(2)		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)		CACTCCCAGGGGAGAAGAGCC	0.627000														66			60		0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47571800	47571801	+	Splice_Site	DNP	GG	AA	AA	rs149156333		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:47571800_47571801GG>AA	uc001cqu.1	+	9	1071	c.1068_splice	c.e9-1	p.W356_splice		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	356						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TTCTACCCAGGGAACACCTGAG	0.480000														40			28		0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133667501	133667501	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:133667501G>A	uc003eqa.4	-	7	1258	c.984C>T	c.(982-984)ttC>ttT	p.F328F	SLCO2A1_uc011blv.2_Silent_p.F147F	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	328					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						CCACCAGGACGAAGAGTGAGT	0.572000														53			54		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48741448	48741448	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:48741448C>T	uc002isl.3	+	9	1394	c.1314C>T	c.(1312-1314)atC>atT	p.I438I	ABCC3_uc002isk.4_Silent_p.I438I|ABCC3_uc002ism.3_Missense_Mutation_p.P151S	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	438	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TGCAGATCATCCTGGCGATCT	0.552000														37			44		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152646328	152646328	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:152646328C>T	uc021zhb.1	-	78	15771	c.15548G>A	c.(15547-15549)aGg>aAg	p.R5183K	SYNE1_uc003qot.4_Missense_Mutation_p.R5112K|SYNE1_uc003qou.4_Missense_Mutation_p.R5183K|SYNE1_uc010kiz.3_Missense_Mutation_p.R938K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5183					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGTCATTGACCTGCTCAGGGT	0.532000										HNSCC(10;0.0054)				96			54		0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95816659	95816659	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:95816659G>A	uc001vmd.4	-	15	2267	c.2148C>T	c.(2146-2148)ttC>ttT	p.F716F	ABCC4_uc010afk.3_Intron|ABCC4_uc001vme.2_Silent_p.F716F|ABCC4_uc010tih.1_Silent_p.F641F	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	716	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GGAGAATAAGGAAAATGAAGA	0.383000														44			10		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937437	21937437	+	RNA	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:21937437C>T	uc010tzj.1	-	0		c.3303G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TTAGTTTCTCCATAATCTCTT	0.383000														98			17		0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900541	123900541	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:123900541T>A	uc001pzp.1	+	0	212	c.212T>A	c.(211-213)tTc>tAc	p.F71Y		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GACATGTGGTTCTCCACTGTC	0.522000														13			39		0	0	1	0	0
CPA4	51200	broad.mit.edu	37	7	129962508	129962508	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:129962508C>T	uc003vpr.3	+	10	1305	c.1258C>T	c.(1258-1260)Ctc>Ttc	p.L420F	CPA4_uc011kpd.2_Missense_Mutation_p.L387F|CPA4_uc011kpe.2_Missense_Mutation_p.L316F	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	Homo sapiens carboxypeptidase A4 (CPA4), transcript variant 1, mRNA.	420					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					GCGGGACAACCTCTACTAGGC	0.547000														50			36		0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390626	158390626	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:158390626C>T	uc010pii.2	-	0	31	c.31G>A	c.(31-33)Gag>Aag	p.E11K		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	11					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)					AAGATGACCTCTCTCACCACA	0.502000														21			40		0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2216581	2216581	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:2216581C>A	uc002lvc.1	+	5	874	c.107C>A	c.(106-108)cCc>cAc	p.P36H	DOT1L_uc002lvb.4_Missense_Mutation_p.P742H|AX746733_uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Missense_Mutation_p.P36H	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	742						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)		CTGGCCTCACCCCTGGACCAG	0.672000														66			29		4.87955e-14	4.93106e-14	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13717505	13717505	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:13717505G>A	uc003jfd.2	-	72	12666	c.12624C>T	c.(12622-12624)atC>atT	p.I4208I	DNAH5_uc003jfc.2_Silent_p.I376I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4208	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)					ATTCGTAGGGGATATTCCACC	0.542000									Kartagener syndrome					18			10		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28966653	28966653	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:28966653G>A	uc002kwr.2	+	2	222	c.87G>A	c.(85-87)gtG>gtA	p.V29V	DSG4_uc002kwq.2_Silent_p.V29V	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	29					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)			TGCTTAAGGTGAAGGAATTTG	0.388000														24			28		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920690	4920690	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:4920690G>A	uc001qng.3	+	0	2349	c.1483G>A	c.(1483-1485)Gga>Aga	p.G495R	KCNA6_uc021qtr.1_Missense_Mutation_p.G495R	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	495						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						AACTGACAACGGACTTGGCAA	0.592000										HNSCC(72;0.22)				37			24		0	0	1	0	0
SMOC2	64094	broad.mit.edu	37	6	168947785	168947785	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:168947785C>T	uc003qwr.2	+	5	751	c.531C>T	c.(529-531)tcC>tcT	p.S177S	SMOC2_uc003qws.2_Intron	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	Homo sapiens SPARC related modular calcium binding 2 (SMOC2), transcript variant 1, mRNA.	170					signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		AAATCTTTTCCGTTCTGAATT	0.507000														60			39		0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117554315	117554315	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:117554315G>A	uc010oxb.1	+	2	626	c.568G>A	c.(568-570)Gga>Aga	p.G190R	CD101_uc009whd.3_Missense_Mutation_p.G190R|CD101_uc010oxc.1_Missense_Mutation_p.G190R|CD101_uc010oxd.1_Intron	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	190	Ig-like C2-type 2.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AACACAGGATGGAGGAGGAAG	0.512000														35			18		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141752674	141752674	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:141752674G>A	uc003vwy.3	+	25	3103	c.3049G>A	c.(3049-3051)Gct>Act	p.A1017T		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1017					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)	TGGGGCCACAGCTGACATCTC	0.458000														56			53		0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110477360	110477360	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:110477360C>T	uc001pkz.1	-	9	1174	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	ARHGAP20_uc001pky.1_Missense_Mutation_p.E274K|ARHGAP20_uc009yyb.1_Missense_Mutation_p.E261K|ARHGAP20_uc001pla.1_Missense_Mutation_p.E261K	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	297					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GGGAGCTGTTCCATAAGGAAG	0.527000														23			70		0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55024487	55024487	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:55024487G>A	uc002lgn.3	+	2	1003	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	216					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CAGCATCCTGGAAAAATATTA	0.408000														33			18		0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174869086	174869086	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:174869086C>T	uc003mcz.3	-	1	1962	c.1017G>A	c.(1015-1017)aaG>aaA	p.K339K	DRD1_uc021yia.1_Silent_p.K339K	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	339					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	p.R338Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	TTGAAAATGCCTTCCGAAAAT	0.448000														51			32		0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369005	22369005	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:22369005C>T	uc010tzu.2	+	0	528	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L	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.	144					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)		CTGCTGTATCCTGGTGGCTCT	0.502000														192			54		0	0	1	0	0
ENOPH1	58478	broad.mit.edu	37	4	83372251	83372251	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:83372251A>C	uc003hmv.3	+	2	499	c.242A>C	c.(241-243)aAt>aCt	p.N81T	ENOPH1_uc003hmx.3_Intron	NM_021204	NP_067027	Q9UHY7	ENOPH_HUMAN	Homo sapiens enolase-phosphatase 1 (ENOPH1), mRNA.	81					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						GCATCTGGGAATGGAGTGGAT	0.488000														41			30		0	0	1	0	0
C20orf151	140893	broad.mit.edu	37	20	60989037	60989037	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:60989037T>G	uc002ycw.2	-	9	1567	c.1370A>C	c.(1369-1371)aAg>aCg	p.K457T		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA.	457										large_intestine(3)|lung(3)|prostate(1)|skin(4)|stomach(1)	12	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)			GCCGGCCGGCTTGGGAGTGTC	0.726000														8			4		0	0	1	0	0
PHF17	79960	broad.mit.edu	37	4	129778548	129778548	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:129778548C>T	uc011cgy.2	+	7	1234	c.920C>T	c.(919-921)cCc>cTc	p.P307L	PHF17_uc003igj.3_Missense_Mutation_p.P307L|PHF17_uc003igk.3_Missense_Mutation_p.P307L|PHF17_uc003igl.3_Missense_Mutation_p.P295L|PHF17_uc003igm.3_Missense_Mutation_p.P307L	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	307					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TCACACATTCCCAGCAGCCGG	0.517000														120			67		0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23017262	23017262	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:23017262C>T	uc002wsr.2	+	0	1206	c.1142C>T	c.(1141-1143)cCc>cTc	p.P381L		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	381					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AAGCGCATCCCCCTCACCAGG	0.667000														28			21		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78516338	78516338	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:78516338G>A	uc001ozl.4	-	15	2642	c.2179_splice	c.e15+1	p.E727_splice		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	727	EGF-like 6.				signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TGCATTTACCGATAGAACAGT	0.552000														5			5		0	0	1	0	0
MFSD2A	84879	broad.mit.edu	37	1	40420974	40420974	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:40420974G>A	uc001cev.3	+	0	191	c.10G>A	c.(10-12)Gga>Aga	p.G4R	MFSD2A_uc010ojb.1_Missense_Mutation_p.G4R|MFSD2A_uc001ceu.3_Missense_Mutation_p.G4R|MFSD2A_uc010ojc.2_5'UTR|MFSD2A_uc009vvy.3_Non-coding_Transcript|MFSD2A_uc001cew.1_Missense_Mutation_p.G4R	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA.	4					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CATGGCCAAAGGAGAAGGCGC	0.706000														2			6		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29054225	29054225	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:29054225G>A	uc002kws.3	+	14	2352	c.2243G>A	c.(2242-2244)gGa>gAa	p.G748E	DSG3_uc002kwt.3_Missense_Mutation_p.G30E	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	748					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCTGCTTCAGGATTCGGAGCA	0.532000														21			16		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153864541	153864541	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:153864541G>A	uc003inf.2	+	0	407	c.332G>A	c.(331-333)cGa>cAa	p.R111Q		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	111	FH2.				actin cytoskeleton organization		actin binding	p.R111*(1)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GAGCAAGTTCGAGGCAAAACC	0.493000														98			62		0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158736179	158736179	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:158736179G>A	uc010piq.2	-	0	294	c.294C>T	c.(292-294)ctC>ctT	p.L98L		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L98L(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AGATCTGCAGGAGACACCCAG	0.498000														63			20		0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137803563	137803563	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:137803563C>T	uc003ldb.1	+	1	1695	c.1425C>T	c.(1423-1425)tcC>tcT	p.S475S		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	475					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			cctccttctcctctcccggct	0.652000														43			50		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119469224	119469224	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:119469224G>A	uc001ehl.1	-	2	427	c.112C>T	c.(112-114)Cct>Tct	p.P38S		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	144						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTCATGGCAGGAAACATCCTC	0.403000														15			4		0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13068955	13068955	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:13068955G>A	uc010xac.2	+	24	5007	c.4927G>A	c.(4927-4929)Gga>Aga	p.G1643R	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.G1168R|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_Missense_Mutation_p.G65R	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	1238										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGCAAGAGCAGGAATAGCTAG	0.488000														52			34		0	0	1	0	0
IP6K3	117283	broad.mit.edu	37	6	33693363	33693363	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:33693363T>G	uc010jvf.2	-	5	1156	c.620A>C	c.(619-621)cAg>cCg	p.Q207P	IP6K3_uc003ofb.2_Missense_Mutation_p.Q207P	NM_001142883	NP_473452	Q96PC2	IP6K3_HUMAN	Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA.	207					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						ATGCGTGTACTGTGACACTAC	0.547000														46			21		0	0	1	0	0
XKR7	343702	broad.mit.edu	37	20	30585011	30585011	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:30585011C>T	uc002wxe.3	+	2	1665	c.1491C>T	c.(1489-1491)acC>acT	p.T497T		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	497						integral to membrane		p.T497T(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GGACCCCCACCCCACCTGTCT	0.682000														28			17		0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1577111	1577111	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:1577111G>A	uc002fte.3	-	21	3489	c.3375C>T	c.(3373-3375)atC>atT	p.I1125I		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1125						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TATAGCCAACGATGTTTTCAT	0.512000														67			38		0	0	1	0	0
SEPP1	6414	broad.mit.edu	37	5	42801363	42801363	+	Missense_Mutation	SNP	G	A	A	rs72563758		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:42801363G>A	uc011cps.2	-	5	793	c.695C>T	c.(694-696)tCg>tTg	p.S232L	CCDC152_uc003jmx.3_3'UTR|CCDC152_uc011cpr.1_3'UTR|SEPP1_uc011cpt.2_Missense_Mutation_p.S202L|SEPP1_uc011cpu.2_Missense_Mutation_p.S202L|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	202					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						GTAATGAGGCGATGGAGTTTC	0.408000														52			41		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124415896	124415896	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:124415896G>A	uc001uft.4	+	72	12464	c.12439G>A	c.(12439-12441)Gag>Aag	p.E4147K	DNAH10_uc001ufu.4_Missense_Mutation_p.E60K	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	4147					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)		AGAAGCCATCGAGGCCCTCCC	0.577000														29			17		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94883460	94883460	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:94883460C>T	uc002btj.3	+	4	878	c.813C>T	c.(811-813)ttC>ttT	p.F271F	MCTP2_uc010urg.1_Silent_p.F271F|MCTP2_uc002bti.2_Silent_p.F271F|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Silent_p.F271F|MCTP2_uc002btg.4_Silent_p.F271F|MCTP2_uc002bth.4_Silent_p.F271F	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	271	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CATCTGATTTCATGGGTTCTG	0.323000														48			51		0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8141428	8141428	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:8141428G>A	uc002gkq.4	-	3	627	c.568C>T	c.(568-570)Cct>Tct	p.P190S	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	190					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						ATGGTCAAAGGAAACACTGGC	0.577000														40			37		0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154876071	154876071	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:154876071C>T	uc003wlu.1	+	1	1012	c.948C>T	c.(946-948)ccC>ccT	p.P316P		NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	316						integral to plasma membrane	serotonin receptor activity	p.I315I(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GTGACATCCCCGCCATCTGGA	0.542000														70			52		0	0	1	0	0
MBD6	114785	broad.mit.edu	37	12	57921367	57921367	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:57921367C>T	uc001soj.1	+	7	2384	c.2160C>T	c.(2158-2160)tcC>tcT	p.S720S	MBD6_uc001sok.1_Silent_p.S587S|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	720	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding	p.A719T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CGGGGGCCTCCTCTCTGGGCA	0.597000														75			47		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121758805	121758805	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:121758805G>A	uc003ksw.1	+	3	579	c.373G>A	c.(373-375)Gga>Aga	p.G125R	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.G125R|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.G172R|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.G125R	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	125					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCCTGGAGATGGAGTGGGCGG	0.562000														21			17		0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95556876	95556876	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:95556876G>A	uc001ydw.2	-	27	5940	c.5728C>T	c.(5728-5730)Cga>Tga	p.R1910*	DICER1_uc010avh.1_Nonsense_Mutation_p.R808*|DICER1_uc021sbc.1_3'UTR|DICER1_uc001ydv.2_Nonsense_Mutation_p.R1900*|DICER1_uc001ydx.2_Nonsense_Mutation_p.R1910*	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1910	DRBM.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.R1910R(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTGAGGCTTCGGAGGGCTCTT	0.398000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					79			62		0	0	1	0	0
C17orf57	124989	broad.mit.edu	37	17	45452298	45452298	+	Silent	SNP	T	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:45452298T>A	uc002iln.3	+	11	1769	c.1338T>A	c.(1336-1338)gtT>gtA	p.V446V	C17orf57_uc002ilm.3_Silent_p.V350V|C17orf57_uc002ill.1_Silent_p.V202V|C17orf57_uc010daz.1_Silent_p.V398V	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	446							calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						AAAAACAGGTTTCGTCTACGG	0.368000														13			6		0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173891334	173891334	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:173891334G>A	uc002uhv.4	+	23	2475	c.2288G>A	c.(2287-2289)gGa>gAa	p.G763E	RAPGEF4_uc002uhw.4_Missense_Mutation_p.G619E	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	763					G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CCAACTGTTGGAACAGTGGGA	0.393000														23			15		0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72005444	72005444	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:72005444G>A	uc001osj.3	-	14	1745	c.1695C>T	c.(1693-1695)atC>atT	p.I565I	CLPB_uc010rqx.2_Silent_p.I520I|CLPB_uc010rqy.2_Silent_p.I506I|CLPB_uc001osk.3_Silent_p.I535I|CLPB_uc010rqz.2_Silent_p.I364I|CLPB_uc001osi.3_Silent_p.I173I	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	565					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GGAAGTAGACGATCTCATTGA	0.557000														192			120		0	0	1	0	0
KRTAP1-1	81851	broad.mit.edu	37	17	39197478	39197478	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:39197478G>A	uc002hvw.1	-	0	236	c.172C>T	c.(172-174)Cct>Tct	p.P58S		NM_030967	NP_112229	Q07627	KRA11_HUMAN	Homo sapiens keratin associated protein 1-1 (KRTAP1-1), mRNA.	58			Missing (in allele KAP1.7).|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			extracellular region|keratin filament				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GAGAAGCTAGGAAATCCACAG	0.602000														81			50		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505223	195505223	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:195505223G>A	uc021xjp.1	-	2	13050	c.12894C>T	c.(12892-12894)gcC>gcT	p.A4298A	MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_5'UTR|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_5'UTR|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_5'UTR|MUC4_uc021xjn.1_Silent_p.A39A|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_5'UTR|MUC4_uc021xjj.1_5'UTR|MUC4_uc021xjk.1_Silent_p.A39A|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Silent_p.A62A|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1055					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)		GGGTGTGCATGGCAGTGCTGG	0.587000														29			19		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55198719	55198719	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:55198719G>A	uc003pcm.1	+	2	379	c.293G>A	c.(292-294)gGa>gAa	p.G98E		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	98						integral to membrane	receptor activity	p.L97I(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAACTGCTTGGAAAAAAATGT	0.294000														57			40		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128326280	128326280	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:128326280C>T	uc003qbk.3	-	14	2807	c.2440G>A	c.(2440-2442)Gaa>Aaa	p.E814K	PTPRK_uc010kfc.3_Missense_Mutation_p.E815K|PTPRK_uc003qbj.3_Missense_Mutation_p.E815K|PTPRK_uc011ebu.2_Missense_Mutation_p.E815K|PTPRK_uc003qbl.1_Missense_Mutation_p.E709K|PTPRK_uc011ebv.1_Missense_Mutation_p.E825K|PTPRK_uc010kfd.1_Missense_Mutation_p.E28K	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	814					cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AGAGGATCTTCTGCATGCAGA	0.388000														17			12		0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18923089	18923089	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:18923089C>T	uc002gut.1	+	12	1563	c.1522C>T	c.(1522-1524)Ctg>Ttg	p.L508L	SLC5A10_uc002gur.1_Silent_p.L462L|SLC5A10_uc002guu.1_Silent_p.L492L|SLC5A10_uc002guv.1_Silent_p.L465L|SLC5A10_uc010vyl.1_Silent_p.L456L	NM_152351	NP_689564	A0PJK1	SC5AA_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 10 (SLC5A10), transcript variant 1, mRNA.	492					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CCTGGAATTCCTGAACCCAGC	0.682000														9			6		0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102661252	102661252	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:102661252C>T	uc001phi.2	-	10	1444	c.1301_splice	c.e10-1	p.G434_splice	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Splice_Site_p.G368_splice	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	434	Hemopexin-like 4.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.G434E(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		ATAGAAAAATCCTAGAAACAA	0.323000														6			6		0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107814658	107814658	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:107814658C>T	uc022ccg.1	+	6	602	c.400C>T	c.(400-402)Cca>Tca	p.P134S	COL4A5_uc004enz.1_Missense_Mutation_p.P134S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	134	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACGTGGATTTCCAGGCAGTCC	0.368000									Alport syndrome with Diffuse Leiomyomatosis					31			80		0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5536481	5536481	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:5536481C>A	uc001maz.4	-	0	1476	c.1191G>T	c.(1189-1191)aaG>aaT	p.K397N	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	397										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CAGTGGCATCCTTGTATTCTT	0.522000														46			40		1.07121e-22	1.08711e-22	1	1	0
C15orf53	400359	broad.mit.edu	37	15	38990343	38990343	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:38990343G>A	uc001zkf.1	+	1	147	c.137G>A	c.(136-138)gGa>gAa	p.G46E		NM_207444	NP_997327	Q8NAA6	CO053_HUMAN	Homo sapiens chromosome 15 open reading frame 53 (C15orf53), mRNA.	46										endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		ttacagggaggaaagctgagg	0.398000														24			12		0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132207199	132207199	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:132207199A>G	uc003eor.3	+	29	3390	c.3325A>G	c.(3325-3327)Atc>Gtc	p.I1109V		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	1109							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						GTTATACCATATCATGCAAGA	0.373000														25			16		0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30131648	30131648	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:30131648G>A	uc010jrx.3	+	0	666	c.187G>A	c.(187-189)Gag>Aag	p.E63K	TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank	NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	63					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CTGCCAAGAGGAGGAGCAGGC	0.642000														49			23		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101196957	101196957	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:101196957T>C	uc001dti.3	+	5	1629	c.1408T>C	c.(1408-1410)Ttc>Ctc	p.F470L	VCAM1_uc010ouj.2_Missense_Mutation_p.F408L|VCAM1_uc001dtj.3_Missense_Mutation_p.F378L	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	470	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGAAATGACCTTCATCCCTAC	0.388000														29			20		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56473545	56473545	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:56473545T>G	uc002qmh.3	+	3	2226	c.2155T>G	c.(2155-2157)Ttt>Gtt	p.F719V	NLRP8_uc010etg.3_Missense_Mutation_p.F719V	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	719						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GGGGCCTCCTTTTTTGAAGGC	0.488000														66			42		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140308647	140308647	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140308647G>A	uc003lih.2	+	0	2346	c.2170G>A	c.(2170-2172)Gat>Aat	p.D724N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.D724N	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	755					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)			CTCTACAGAGGATCTGAGGTA	0.453000														40			22		0	0	1	0	0
C10orf55	414236	broad.mit.edu	37	10	75671786	75671786	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:75671786G>A	uc001jvz.2	-	4	454	c.113C>T	c.(112-114)tCg>tTg	p.S38L	PLAU_uc010qkw.2_Intron|PLAU_uc001jwa.3_Intron|PLAU_uc010qkx.2_Intron|PLAU_uc001jwb.3_Intron|PLAU_uc001jwc.3_Intron|PLAU_uc009xrq.1_Intron	NM_001001791	NP_001001791	Q5SWW7	CJ055_HUMAN	Homo sapiens chromosome 10 open reading frame 55 (C10orf55), mRNA.	38										endometrium(1)	1	Prostate(51;0.0112)					GCCTCCTCCCGAATCTCTTCC	0.552000														3			21		0	0	1	0	0
MDFIC	29969	broad.mit.edu	37	7	114619749	114619749	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:114619749C>T	uc003vhf.3	+	3	996	c.406C>T	c.(406-408)Cag>Tag	p.Q136*		NM_001166345	NP_001159817	Q9P1T7	MDFIC_HUMAN	Homo sapiens MyoD family inhibitor domain containing (MDFIC), transcript variant 1, mRNA.	136					activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	Tat protein binding|cyclin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						TAGAAAAATTCAGTCCAGCTT	0.418000														39			18		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31313487	31313487	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:31313487C>T	uc003jhe.2	+	7	1676	c.1316C>T	c.(1315-1317)tCg>tTg	p.S439L	CDH6_uc003jhd.2_Missense_Mutation_p.S439L	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	439	Cadherin 4.				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						GGAAATGGTTCGATTTTTACA	0.393000														44			30		0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176638265	176638265	+	Silent	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:176638265T>C	uc003mfr.4	+	4	3003	c.2865T>C	c.(2863-2865)gtT>gtC	p.V955V	NSD1_uc003mft.4_Silent_p.V686V|NSD1_uc003mfs.1_Silent_p.V852V|NSD1_uc011dfx.2_Silent_p.V603V	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	955					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)		TCTCTAAGGTTTTGGTTTCAG	0.512000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				21			11		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401601	77401601	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	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														21			14		0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160294897	160294897	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:160294897G>A	uc002uao.3	-	7	1615	c.1210C>T	c.(1210-1212)Cct>Tct	p.P404S	BAZ2B_uc002uap.3_Missense_Mutation_p.P402S|BAZ2B_uc002uas.1_Missense_Mutation_p.P341S|BAZ2B_uc002uau.1_Missense_Mutation_p.P402S|BAZ2B_uc002uaq.1_Missense_Mutation_p.P332S|BAZ2B_uc002uat.4_3'UTR|BAZ2B_uc010fop.1_Missense_Mutation_p.P402S	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	404					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						TCAGGAGAAGGAACTATGAGT	0.363000														26			15		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	142012091	142012091	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:142012091C>T	uc002tvj.1	-	4	1435	c.463_splice	c.e4+1	p.D155_splice	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	155	EGF-like 2; calcium-binding (Potential).				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)		TTTTACTTACCTTTACAGCTT	0.363000										TSP Lung(27;0.18)				27			11		0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165218761	165218761	+	Missense_Mutation	SNP	C	T	T	rs150222420		TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:165218761C>T	uc001gcz.2	-	3	574	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	LMX1A_uc021pdz.1_Missense_Mutation_p.R127Q	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	127	LIM zinc-binding 2.					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)					CTGAAGCTGTCGCTCGCAGAC	0.582000														63			23		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684128	100684128	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:100684128C>T	uc003uxp.1	+	2	9484	c.9431C>T	c.(9430-9432)tCa>tTa	p.S3144L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3144	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)					GAAGCCCATTCATCTCCTACA	0.498000														181			115		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3253834	3253834	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:3253834G>A	uc022aqr.1	-	16	2865	c.2475C>T	c.(2473-2475)atC>atT	p.I825I	CSMD1_uc011kwj.2_Silent_p.I218I|CSMD1_uc003wqe.3_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	826	CUB 5.					integral to membrane		p.P825P(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGTACTCGCCGATCAGTGGGG	0.537000														7			3		0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53045473	53045473	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:53045473C>T	uc001sat.3	-	0	487	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	152	Head.				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)		ACAGAGACTTCGTGGATGCCA	0.572000														38			26		0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183104880	183104880	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:183104880G>A	uc002uos.3	-	3	439	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	PDE1A_uc010zfp.1_Missense_Mutation_p.R15W|PDE1A_uc002uoq.1_Missense_Mutation_p.R119W|PDE1A_uc010zfq.1_Missense_Mutation_p.R119W|PDE1A_uc002uor.3_Missense_Mutation_p.R103W|PDE1A_uc002uou.3_Missense_Mutation_p.R85W	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	119					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.R119W(6)		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)			ACAATGCTCCGAAATTTTGGT	0.418000														46			43		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181724526	181724526	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:181724526G>A	uc009wxt.3	+	27	4177	c.3982G>A	c.(3982-3984)Gag>Aag	p.E1328K	CACNA1E_uc001gow.3_Missense_Mutation_p.E1328K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E1309K|CACNA1E_uc001gox.1_Missense_Mutation_p.E554K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1328					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.E1328K(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CACAGAGAAGGAGTGCATGTA	0.483000														118			51		0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936570	4936570	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:4936570G>A	uc001lzr.1	-	0	324	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F108L(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCAGTGAATGAAAAAGAGCT	0.507000														14			13		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71286524	71286524	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:71286524C>T	uc001swi.2	-	1	706	c.292G>A	c.(292-294)Gcc>Acc	p.A98T		NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	98					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CCATCCATGGCCAGCAGATTG	0.458000														70			45		0	0	1	0	0
ADAM23	8745	broad.mit.edu	37	2	207414845	207414845	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:207414845G>A	uc002vbq.3	+	8	1117	c.894G>A	c.(892-894)atG>atA	p.M298I	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	298					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTGAAGAAATGAAATATTTGG	0.303000														22			11		0	0	1	0	0
TLX3	30012	broad.mit.edu	37	5	170736421	170736421	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:170736421T>C	uc003mbf.3	+	0	134	c.52T>C	c.(52-54)Ttc>Ctc	p.F18L	AX746723_uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	Homo sapiens T-cell leukemia homeobox 3 (TLX3), mRNA.	18						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCCATCAGCTTCGGCATCGA	0.781000			T	BCL11B	T-ALL									7			6		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161021955	161021955	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:161021955C>T	uc003qtl.3	-	19	3241	c.3121G>A	c.(3121-3123)Gaa>Aaa	p.E1041K		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3549	Kringle 9.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTACCTTGTTCAAAAAAAGCC	0.507000														24			15		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802413	185802413	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:185802413G>A	uc002uph.3	+	3	2884	c.2290G>A	c.(2290-2292)Gaa>Aaa	p.E764K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	764						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						TGTCATGAATGAATCAGAAAG	0.333000														39			21		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037295	75037295	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:75037295C>T	uc001dgg.3	-	13	4318	c.4099G>A	c.(4099-4101)Gag>Aag	p.E1367K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1367	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTTTTCTCCTCGGCTGTCTCC	0.517000														18			70		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69633613	69633613	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:69633613G>A	uc010lyz.3	+	9	1636	c.1345G>A	c.(1345-1347)Gaa>Aaa	p.E449K	C8orf34_uc003xyb.3_Missense_Mutation_p.E338K	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	363					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GCCTGGGACTGAAGAAGCACT	0.299000														14			4		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10364285	10364285	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:10364285C>T	uc002gmn.3	-	11	1206	c.1095G>A	c.(1093-1095)atG>atA	p.M365I	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	365	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						GCTTGAATTTCATGTTCCCAT	0.483000														66			31		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900577	51900578	+	Nonsense_Mutation	DNP	GG	AT	AT			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:51900577_51900578GG>AT	uc002iua.2	+	0	339_340	c.183_184GG>AT	c.(181-186)gtggag>gtATag	p.E62*		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	62					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						TAGAGTGGGTGGAGAAAGCAGT	0.554000														62			45		0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113346517	113346517	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:113346517C>T	uc021xcn.1	+	25	3112	c.2461C>T	c.(2461-2463)Ctt>Ttt	p.L821F	SIDT1_uc003eak.3_Missense_Mutation_p.L816F|SIDT1_uc011big.2_Missense_Mutation_p.L569F|SIDT1_uc021xcq.1_Missense_Mutation_p.L275F|SIDT1_uc011bii.2_Missense_Mutation_p.L269F	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	816						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GGATGATGACCTTGATGTGGT	0.443000														53			37		0	0	1	0	0
TRMT6	51605	broad.mit.edu	37	20	5927167	5927167	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:5927167G>A	uc002wmh.1	-	1	263	c.141C>T	c.(139-141)ttC>ttT	p.F47F	TRMT6_uc010zra.1_5'UTR|TRMT6_uc010gbn.1_5'UTR|TRMT6_uc010gbo.1_Non-coding_Transcript	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN	Homo sapiens tRNA methyltransferase 6 homolog (S. cerevisiae) (TRMT6), mRNA.	47					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ACTGTTTTTCGAAAGTTACTT	0.373000														36			12		0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	32091189	32091189	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:32091189C>T	uc003tcm.2	-	1	566	c.105G>A	c.(103-105)agG>agA	p.R35R	PDE1C_uc003tcn.1_Silent_p.R35R|PDE1C_uc003tco.2_Intron|PDE1C_uc003tcr.3_Silent_p.R35R|PDE1C_uc003tcs.3_Silent_p.R35R	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	35					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TCTTATATTTCCTCCTGTAAG	0.468000														18			7		0	0	1	0	0
NUP133	55746	broad.mit.edu	37	1	229631307	229631307	+	Silent	SNP	A	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:229631307A>C	uc001htn.3	-	7	1073	c.981T>G	c.(979-981)tcT>tcG	p.S327S		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	Homo sapiens nucleoporin 133kDa (NUP133), mRNA.	327					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding	p.G326V(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AGTTACTTTCAGATCCCTACA	0.338000														27			11		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135613	55135613	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:55135613C>T	uc010rif.2	+	0	254	c.254C>T	c.(253-255)tCc>tTc	p.S85F		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G84C(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TCCCTGGGTTCCCCCATGTAC	0.408000														41			40		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193002735	193002735	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:193002735C>T	uc011bsq.2	-	26	3194	c.3194G>A	c.(3193-3195)gGa>gAa	p.G1065E		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	1065					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)		AAATGGCTTTCCCTTAGAAAA	0.368000														17			16		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38418213	38418213	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:38418213G>A	uc003jlc.2	+	11	1886	c.1540G>A	c.(1540-1542)Ggc>Agc	p.G514S	EGFLAM_uc003jlb.2_Missense_Mutation_p.G514S|EGFLAM_uc003jle.2_Missense_Mutation_p.G280S|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	514	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CTATCTTGGTGGCGCTCCCAG	0.463000														44			20		0	0	1	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138192553	138192553	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:138192553C>T	uc003qhr.3	+	1	255	c.189C>T	c.(187-189)atC>atT	p.I63I	TNFAIP3_uc003qhs.3_Silent_p.I63I|TNFAIP3_uc021zfv.1_5'UTR	NM_006290	NP_006281	P21580	TNAP3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 3 (TNFAIP3), mRNA.	63	TRAF-binding.				B-1 B cell homeostasis|anti-apoptosis|apoptosis|negative regulation of B cell activation|negative regulation of CD40 signaling pathway|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of bone resorption|negative regulation of endothelial cell apoptosis|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	DNA binding|caspase inhibitor activity|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TTCGGGAGATCATCCACAAAG	0.458000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""									43			23		0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100395743	100395743	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:100395743C>T	uc003pqh.1	-	2	602	c.287G>A	c.(286-288)gGg>gAg	p.G96E	MCHR2_uc003pqi.1_Missense_Mutation_p.G96E	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	96						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G96E(2)|p.R95*(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)		CCACTCTCCCCCTCGGGCCCA	0.488000														58			45		0	0	1	0	0
C17orf56	146705	broad.mit.edu	37	17	79207446	79207446	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:79207446G>A	uc002jzu.2	-	5	504	c.446C>T	c.(445-447)cCt>cTt	p.P149L	C17orf56_uc002jzr.2_5'Flank|C17orf56_uc002jzs.2_5'UTR|C17orf56_uc002jzt.2_5'UTR|C17orf56_uc002jzv.2_5'UTR|AL832593_uc002jzw.1_Intron	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	Homo sapiens chromosome 17 open reading frame 56 (C17orf56), mRNA.	149						integral to membrane				endometrium(1)|kidney(1)|lung(5)|prostate(1)|skin(3)	11	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ACCTGTGGCAGGCGGGGTCCC	0.667000														11			11		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196395036	196395036	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:196395036C>T	uc001gtd.1	-	10	1127	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.R356Q|KCNT2_uc001gtf.1_Missense_Mutation_p.R356Q|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.R356Q|KCNT2_uc009wyv.1_Missense_Mutation_p.R331Q	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	356						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTAGATAACTCGTTGGGACCA	0.413000														22			33		0	0	1	0	0
FCAMR	83953	broad.mit.edu	37	1	207135711	207135711	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:207135711G>A	uc001hfa.4	-	4	999	c.499C>T	c.(499-501)Cgt>Tgt	p.R167C	FCAMR_uc001hfb.3_Missense_Mutation_p.R167C|FCAMR_uc009xca.2_Missense_Mutation_p.R167C|FCAMR_uc021pig.1_Missense_Mutation_p.R82C	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	122	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						ACACGGTCACGATAGCGATGG	0.567000														70			29		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32170079	32170080	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:32170079_32170080CC>TT	uc003obb.3	-	20	3667_3668	c.3528_3529GG>AA	c.(3526-3531)aagggg>aaAAgg	p.G1177R	NOTCH4_uc003oba.3_5'UTR|NOTCH4_uc011dpu.2_Intron|NOTCH4_uc011dpv.2_Intron	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1177					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CCCTCACACCCCTTGGCTCCGG	0.663000														230			78		0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76344712	76344712	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:76344712C>T	uc001dhd.2	+	11	1691	c.1576C>T	c.(1576-1578)Cct>Tct	p.P526S		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	526					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						ATATAGTCTACCTTTAAGGAC	0.318000								Mismatch excision repair (MMR)						4			29		0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	86996198	86996198	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:86996198C>T	uc003dqn.3	-	3	1321	c.957G>A	c.(955-957)aaG>aaA	p.K319K		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		ATTCCTTACTCTTGTCTTGAT	0.383000														36			18		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28412966	28412966	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:28412966G>A	uc001zbj.3	-	67	10527	c.10421C>T	c.(10420-10422)tCc>tTc	p.S3474F		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3474					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)		GTCCTCAGAGGAAACAATCTA	0.522000														35			56		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181767819	181767819	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:181767819A>G	uc009wxt.3	+	47	6986	c.6791A>G	c.(6790-6792)aAc>aGc	p.N2264S	CACNA1E_uc001gow.3_Missense_Mutation_p.N2221S|CACNA1E_uc009wxs.3_Missense_Mutation_p.N2202S	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2264					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						GGCCGTTCCAACACCATCGGC	0.662000														12			14		0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17983152	17983152	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:17983152C>T	uc001ban.3	+	24	2968	c.2809C>T	c.(2809-2811)Ctg>Ttg	p.L937L	ARHGEF10L_uc009vpe.1_Silent_p.L898L|ARHGEF10L_uc001bao.3_Silent_p.L898L|ARHGEF10L_uc001bap.3_Silent_p.L893L|ARHGEF10L_uc001baq.3_Silent_p.L698L|ARHGEF10L_uc010ocs.2_Silent_p.L710L|ARHGEF10L_uc001bar.3_Silent_p.L640L|ARHGEF10L_uc009vpf.3_Non-coding_Transcript	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	937					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.L937L(1)		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)		CCCCTTCCACCTGCTCGCTGG	0.662000														27			18		0	0	1	0	0
RNF145	153830	broad.mit.edu	37	5	158585695	158585695	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:158585695G>A	uc010jiq.2	-	10	2215	c.2065C>T	c.(2065-2067)Cct>Tct	p.P689S	RNF145_uc011ddy.2_Missense_Mutation_p.P673S|RNF145_uc003lxo.2_Missense_Mutation_p.P687S|RNF145_uc011ddz.2_Missense_Mutation_p.P676S|RNF145_uc003lxp.3_Missense_Mutation_p.P659S|RNF145_uc021ygv.1_Non-coding_Transcript	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	659						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATTCAACAGGATGTGCTTCA	0.443000														81			46		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7707764	7707764	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:7707764G>A	uc002giu.1	+	57	9177	c.9163G>A	c.(9163-9165)Gag>Aag	p.E3055K	DNAH2_uc010cnm.1_Missense_Mutation_p.E32K	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3055	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCAGAAGCGGGAGGCAGATGA	0.612000														17			12		0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31352993	31352993	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:31352993G>A	uc002hht.3	-	4	2019	c.1146C>T	c.(1144-1146)gcC>gcT	p.A382A	ASIC2_uc002hhu.3_Silent_p.A331A	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	331					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	TACAAAAAGGGGCATCCCCTG	0.562000														23			11		0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32663598	32663598	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:32663598C>T	uc001mtv.3	-	12	1014	c.970G>A	c.(970-972)Gag>Aag	p.E324K	CCDC73_uc001mtw.1_Missense_Mutation_p.E314K	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	324								p.E324D(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTACCTTCTCCCTTTGCAGC	0.289000														14			3		0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53418961	53418961	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr13:53418961G>A	uc001vhi.3	-	2	3151	c.2947C>T	c.(2947-2949)Cag>Tag	p.Q983*	PCDH8_uc001vhj.3_Nonsense_Mutation_p.Q886*	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	983					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)		GTTGACATCTGGGCTGGTGGG	0.627000														57			26		0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107431128	107431128	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:107431128C>T	uc004enw.4	-	21	1823	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K	COL4A6_uc004env.4_Missense_Mutation_p.E573K|COL4A6_uc011msn.2_Missense_Mutation_p.E573K|COL4A6_uc010npk.3_Missense_Mutation_p.E573K	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	574	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTGCCTGGTTCTCCTATTACA	0.522000									Alport syndrome with Diffuse Leiomyomatosis					19			56		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347843	140347843	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:140347843G>A	uc003lii.3	+	0	2097	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.E498K	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	498	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACCCAGATGAAAAGGAGAA	0.512000														62			40		0	0	1	0	0
RERG	85004	broad.mit.edu	37	12	15264295	15264295	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:15264295G>A	uc001rcs.3	-	2	315	c.175C>T	c.(175-177)Cta>Tta	p.L59L	RERG_uc001rct.3_Silent_p.L59L|RERG_uc010shu.2_Silent_p.L40L	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	59					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	GDP binding|GTP binding|GTPase activity|estrogen receptor binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GCAGTGTCTAGTATCTCCATG	0.338000														65			22		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71335036	71335036	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:71335036G>A	uc010dfm.3	-	44	6209	c.6209C>T	c.(6208-6210)gCc>gTc	p.A2070V	SDK2_uc002jjt.4_Missense_Mutation_p.A1210V	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	2070					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AAAGGAGTGGGCCTTCTGGTG	0.582000														34			18		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883106	228883106	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:228883106C>T	uc002vpq.2	-	6	2511	c.2464G>A	c.(2464-2466)Gat>Aat	p.D822N	SPHKAP_uc002vpp.2_Missense_Mutation_p.D822N|SPHKAP_uc010zlx.1_Missense_Mutation_p.D822N	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	822						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)		GTTGAAGAATCGGGCACTCTG	0.468000														53			41		0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271909	22271909	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:22271909C>T	uc010ecx.3	+	3	1526	c.1357C>T	c.(1357-1359)Cat>Tat	p.H453Y	ZNF257_uc010ecy.3_Missense_Mutation_p.H421Y	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAGATAATTCATACTGGAGA	0.393000														5			27		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91791245	91791245	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:91791245C>T	uc010aty.3	-	11	1374	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	407					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCCTCAATTCGTTTCTTATC	0.552000														23			13		0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46401237	46401237	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:46401237G>A	uc003cpn.4	+	2	1496	c.1011G>A	c.(1009-1011)gtG>gtA	p.V337V		NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	337					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GTCCAGGAGTGAGACCAGGAA	0.507000														38			38		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54543772	54543772	+	Missense_Mutation	SNP	G	A	A	rs149688029	byFrequency	TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:54543772G>A	uc002iun.1	+	13	1657	c.1622G>A	c.(1621-1623)cGa>cAa	p.R541Q		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	541										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATTAAAGATCGACATGGAAAC	0.403000														29			20		0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46963859	46963859	+	Silent	SNP	C	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr10:46963859C>A	uc001jea.3	-	6	1257	c.1104G>T	c.(1102-1104)gtG>gtT	p.V368V	SYT15_uc001jdz.2_Silent_p.V368V|SYT15_uc001jeb.3_Silent_p.V246V|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	368	C2 2.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCATGTTCTGCACCACAGTCA	0.607000														27			14		0.000308642	0.000309288	1	1	0
FASTKD3	79072	broad.mit.edu	37	5	7868072	7868072	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr5:7868072C>T	uc003jeb.3	-	1	297	c.125G>A	c.(124-126)tGc>tAc	p.C42Y	FASTKD3_uc011cmp.2_5'UTR|FASTKD3_uc003jec.3_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jed.3_5'Flank|MTRR_uc003jee.4_5'Flank|MTRR_uc003jef.4_5'Flank|MTRR_uc003jeg.4_5'Flank|MTRR_uc010ito.3_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	Homo sapiens FAST kinase domains 3 (FASTKD3), transcript variant 1, mRNA.	42					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CAACCAAGGGCACAGACGCTC	0.403000														53			30		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10032409	10032409	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:10032409C>T	uc010uym.2	-	4	725	c.415_splice	c.e4-1	p.D139_splice	GRIN2A_uc002czo.4_Splice_Site_p.D139_splice|GRIN2A_uc010uyn.2_Splice_Site|GRIN2A_uc002czr.4_Splice_Site_p.D139_splice	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	139					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)	ACGTCGGATCCTGCCAGTGAA	0.468000														19			22		0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55931947	55931947	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr15:55931947G>A	uc002adg.3	-	12	2265	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	739	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TCCAGTGCAGGAAGATGGAAG	0.498000														93			27		0	0	1	0	0
TNNT2	7139	broad.mit.edu	37	1	201334340	201334340	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:201334340G>A	uc001gwf.3	-	9	459	c.390C>T	c.(388-390)ctC>ctT	p.L130L	TNNT2_uc021phc.1_Silent_p.L120L|TNNT2_uc001gwg.3_Silent_p.L120L|TNNT2_uc001gwh.3_Silent_p.L111L|TNNT2_uc001gwi.3_Intron|TNNT2_uc009wzr.3_Silent_p.L61L|TNNT2_uc001gwj.1_5'Flank|TNNT2_uc009wzs.1_Silent_p.L95L|TNNT2_uc001gwk.1_Silent_p.L61L|TNNT2_uc009wzt.1_Silent_p.L120L	NM_000364	NP_000355	P45379	TNNT2_HUMAN	Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA.	130					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	p.R130L(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TGAGAGAAACGAGCTCCTCCT	0.547000														92			55		0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825176	4825176	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:4825176G>A	uc021qcs.1	-	0	435	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCCAGTTTGATCACGACCG	0.587000														36			21		0	0	1	0	0
C6orf221	154288	broad.mit.edu	37	6	74073403	74073403	+	Silent	SNP	T	C	C			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:74073403T>C	uc003pgt.4	+	2	527	c.474T>C	c.(472-474)cgT>cgC	p.R158R		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	158										NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						GGACCCAGCGTTCGGTGGAAG	0.672000														27			16		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69380963	69380963	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:69380963G>A	uc010lyz.3	+	3	935	c.644G>A	c.(643-645)aGg>aAg	p.R215K	C8orf34_uc010lyy.2_Missense_Mutation_p.R215K|C8orf34_uc003xyb.3_Missense_Mutation_p.R104K	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	129					signal transduction		cAMP-dependent protein kinase regulator activity	p.Q214L(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TGGAACTGGAGGACTAAACCA	0.398000														10			15		0	0	1	0	0
PEG10	23089	broad.mit.edu	37	7	94293127	94293127	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:94293127G>A	uc003uno.3	+	1	738	c.259G>A	c.(259-261)Gat>Aat	p.D87N	PEG10_uc011kie.2_Missense_Mutation_p.D163N|PEG10_uc022ahn.1_Missense_Mutation_p.D87N	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.	87	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AGAGAAGTTCGATGGCAACCC	0.562000														17			18		0	0	1	0	0
FOXP4	116113	broad.mit.edu	37	6	41566642	41566642	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:41566642G>A	uc003oql.3	+	16	2469	c.2011G>A	c.(2011-2013)Gag>Aag	p.E671K	FOXP4_uc003oqm.3_Missense_Mutation_p.E669K|FOXP4_uc003oqn.3_Missense_Mutation_p.E658K	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA.	671					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CAGGGACCTGGAGGAGGAGCT	0.687000														24			11		0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71724592	71724592	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:71724592G>A	uc002fax.3	-	2	445	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C	PHLPP2_uc010cgf.3_Missense_Mutation_p.R147C|PHLPP2_uc002fay.1_Missense_Mutation_p.R147C|TRNA_Gln_uc021tkw.1_5'Flank	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	147				R -> C (in Ref. 3; BX647823).		cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CGATCCAAACGATCCATGTGG	0.418000														19			15		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768185	117768185	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:117768185C>T	uc001twn.2	-	1	1401	c.690G>A	c.(688-690)aaG>aaA	p.K230K	NOS1_uc001twm.2_Silent_p.K230K	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	230	PIN (nNOS-inhibiting protein) binding.				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)	TCATCTCTGCCTTGGCAGGTG	0.547000														61			42		0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767024	105767024	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:105767024G>A	uc004bbs.2	+	3	298	c.228G>A	c.(226-228)tgG>tgA	p.W76*		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	76	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AACCATTATGGATGTACCGTT	0.383000														8			13		0	0	1	0	0
C4orf22	255119	broad.mit.edu	37	4	81791175	81791175	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:81791175C>T	uc010ijp.3	+	4	462	c.413C>T	c.(412-414)tCt>tTt	p.S138F	C4orf22_uc003hmf.3_Missense_Mutation_p.S121F	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN	Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.	121			T -> M (in dbSNP:rs11947742).							NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						GACAGAAATTCTCATGGGCAA	0.373000														34			40		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040656	107040656	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:107040656T>A	uc010ywi.1	-	19	3824	c.3767A>T	c.(3766-3768)gAa>gTa	p.E1256V		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1256					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CAAAGCATCTTCCCTTAAATC	0.443000														139			92		0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784309	30784309	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:30784309G>A	uc002wxn.2	-	2	1654	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	479						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGCCAGACGTGAAGACAGGAG	0.577000														34			26		0	0	1	0	0
PROX2	283571	broad.mit.edu	37	14	75329591	75329591	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:75329591A>G	uc021rwo.1	-	0	947	c.947T>C	c.(946-948)aTc>aCc	p.I316T	PROX2_uc001xqp.2_Missense_Mutation_p.I316T|PROX2_uc001xqq.2_Intron	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	316					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)		TCTTGGAGGGATAGGGTACCT	0.527000														67			33		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10446432	10446432	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:10446432G>A	uc010coi.3	-	8	916	c.788C>T	c.(787-789)tCt>tTt	p.S263F	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.S263F|MYH2_uc010coj.3_Missense_Mutation_p.S263F	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	263	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AATATCAGCAGATGCCAGTTT	0.294000														54			34		0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110984678	110984678	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:110984678C>T	uc003ynr.4	-	1	1604	c.800G>A	c.(799-801)aGg>aAg	p.R267K	KCNV1_uc010mcw.3_Missense_Mutation_p.R267K	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	267						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.D266D(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GAAGCGACACCTGTCCCGCAC	0.537000														24			24		0	0	1	0	0
STARD6	147323	broad.mit.edu	37	18	51851242	51851242	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr18:51851242G>A	uc010xdt.2	-	5	483	c.483C>T	c.(481-483)aaC>aaT	p.N161N		NM_139171	NP_631910	P59095	STAR6_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA.	161	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		AATATGCTGGGTTTCTGTAAG	0.328000														18			14		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196964873	196964873	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:196964873C>T	uc001gts.4	+	4	762	c.634C>T	c.(634-636)Cct>Tct	p.P212S		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	212	Sushi 4.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TGGTCCACCTCCTCAACTCTC	0.318000														37			52		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35130022	35130022	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:35130022C>T	uc003teq.1	-	20	2270	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		GGCAGATTTTCGACTATATGT	0.274000														47			23		0	0	1	0	0
C1QTNF4	114900	broad.mit.edu	37	11	47612180	47612180	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:47612180G>A	uc021qit.1	-	0	183	c.183C>T	c.(181-183)ttC>ttT	p.F61F	C1QTNF4_uc001ngc.2_Silent_p.F61F	NM_031909	NP_114115	Q9BXJ3	C1QT4_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 4 (C1QTNF4), mRNA.	61	C1q 1.					extracellular region		p.F61L(2)		breast(2)|endometrium(1)|kidney(1)|lung(2)	6						TGGCCACATCGAAGTCGCCCC	0.672000														9			8		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107042487	107042487	+	RNA	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:107042487C>T	uc021ser.1	-	179		c.7641G>A								Parts of antibodies, mostly variable regions.																		TAGTATTTCTCACTTCCGTCA	0.537000														27			22		0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046766	73046766	+	RNA	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chrX:73046766C>T	uc004ebn.2	+	0		c.34727C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		CTTGAGACTTCCATCCAACTC	0.483000														14			36		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3216833	3216833	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr8:3216833C>T	uc022aqr.1	-	20	3535	c.3145G>A	c.(3145-3147)Gga>Aga	p.G1049R	CSMD1_uc011kwj.2_Missense_Mutation_p.G442R|CSMD1_uc003wqe.3_Missense_Mutation_p.G206R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1050	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCAGGGACTCCAGGATCATCA	0.448000														21			16		0	0	1	0	0
OR1J1	347168	broad.mit.edu	37	9	125240122	125240122	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr9:125240122G>A	uc011lyu.2	-	0	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	28					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						GGAACAGGGCGAAGAACACGG	0.587000														14			34		0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56089711	56089711	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr20:56089711C>T	uc010giw.1	-	6	1378	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	CTCFL_uc010gix.1_Missense_Mutation_p.E423K|CTCFL_uc002xym.2_Missense_Mutation_p.E423K|CTCFL_uc010gjb.1_Missense_Mutation_p.E423K|CTCFL_uc010gja.1_Intron|CTCFL_uc010gjc.1_Missense_Mutation_p.E423K|CTCFL_uc010gjd.1_Missense_Mutation_p.E423K|CTCFL_uc010gje.3_Missense_Mutation_p.E423K|CTCFL_uc010gjg.3_Missense_Mutation_p.E155K|CTCFL_uc010gjf.3_Missense_Mutation_p.E218K|CTCFL_uc010gjh.2_Intron|CTCFL_uc010gji.2_Missense_Mutation_p.E218K|CTCFL_uc010gjj.2_Missense_Mutation_p.E423K|CTCFL_uc021wfe.1_3'UTR|CTCFL_uc021wff.1_Non-coding_Transcript|CTCFL_uc021wfg.1_3'UTR	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	423					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.E423K(4)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GGGACATTTTCGCCGTGTTTC	0.488000											OREG0026065	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		91			62		0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89123778	89123778	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr14:89123778G>A	uc021ryf.1	-	26	4195	c.3946C>T	c.(3946-3948)Cgc>Tgc	p.R1316C	EML5_uc001xxf.3_Missense_Mutation_p.R111C|EML5_uc021ryg.1_Missense_Mutation_p.R1316C|EML5_uc001xxh.1_Missense_Mutation_p.R455C	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	1316						cytoplasm|microtubule		p.R1316H(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AACATTGGGCGAATATTTGTT	0.313000														15			10		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484277	43484277	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr7:43484277G>A	uc003tid.1	+	10	2111	c.1506G>A	c.(1504-1506)gaG>gaA	p.E502E	HECW1_uc011kbi.1_Silent_p.E502E	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	502	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						Gggaagaagaggagaaggagc	0.632000														6			6		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196964900	196964900	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:196964900G>A	uc001gts.4	+	4	789	c.661G>A	c.(661-663)Gag>Aag	p.E221K		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	221	Sushi 4.				complement activation, alternative pathway	extracellular region		p.K220N(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TGAAGTTAAGGAGATAAGAAA	0.343000														35			53		0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33288188	33288188	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr6:33288188T>A	uc003oec.3	-	3	1424	c.1220A>T	c.(1219-1221)gAc>gTc	p.D407V	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|DAXX_uc021ywn.1_Missense_Mutation_p.D407V|DAXX_uc021ywo.1_Missense_Mutation_p.D407V|DAXX_uc011dre.2_Missense_Mutation_p.D419V|DAXX_uc003oed.3_Missense_Mutation_p.D407V|DAXX_uc011drd.2_Missense_Mutation_p.D332V|DAXX_uc010juw.2_Missense_Mutation_p.D332V	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	407	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.D407fs*121(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TTCGGGGGTGTCTGCAGAGTG	0.547000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM									92			31		0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78092030	78092030	+	Silent	SNP	C	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr17:78092030C>T	uc002jxp.3	+	17	2887	c.2520C>T	c.(2518-2520)ccC>ccT	p.P840P	GAA_uc002jxo.3_Silent_p.P840P|GAA_uc002jxq.3_Silent_p.P840P	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	840					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCCAGCAGCCCATGGCCCTGG	0.662000														50			15		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38908865	38908865	+	Silent	SNP	G	A	A			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr3:38908865G>A	uc021wvy.1	-	22	4097	c.3898C>T	c.(3898-3900)Ctg>Ttg	p.L1300L		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1300					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAGAGATTCAGAGTGAAGAAT	0.363000														27			16		0	0	1	0	0
ZNF124	7678	broad.mit.edu	37	1	247319908	247319909	+	Frame_Shift_Ins	INS	-	T	T			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr1:247319908_247319909insT	uc001ick.3	-	3	1154_1155	c.1015_1016insA	c.(1015-1017)actfs	p.T339fs	ZNF124_uc001ici.3_Intron|ZNF124_uc001icj.1_Frame_Shift_Ins_p.T277fs	NM_003431	NP_003422	Q15973	ZN124_HUMAN	Homo sapiens zinc finger protein 124 (ZNF124), transcript variant 1, mRNA.	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T277P(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TCCAGTATGAGTTTTTTTATGC	0.366													---	34	---	---	35	---					
DNAH7	56171	broad.mit.edu	37	2	196922781	196922781	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr2:196922781delA	uc002utj.4	-	1	176	c.75delT	c.(73-75)tctfs	p.S25fs		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	25	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAATTACCATAGACAGCTGTG	0.308													---	58	---	---	22	---					
DDIT4L	115265	broad.mit.edu	37	4	101109270	101109271	+	In_Frame_Ins	INS	-	ATATTACCT	ATATTACCT			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr4:101109270_101109271insATATTACCT	uc003hvq.3	-	2	390_391	c.145_146insAGGTAATAT	c.(145-147)ttt>tAGGTAATATtt	p.48_49ins*VI		NM_145244	NP_660287	Q96D03	DDT4L_HUMAN	Homo sapiens DNA-damage-inducible transcript 4-like (DDIT4L), mRNA.	48					negative regulation of signal transduction	cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		TGATTCCTCAAATATTACCTCG	0.366													---	61	---	---	12	---					
DHCR7	1717	broad.mit.edu	37	11	71152336	71152339	+	Frame_Shift_Del	DEL	CCAA	-	-			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:71152336_71152339delCCAA	uc001oqk.3	-	5	810_813	c.560_563delTTGG	c.(559-564)cttggcfs	p.L187fs	DHCR7_uc001oql.3_Frame_Shift_Del_p.L187fs	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	187					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	GACGGCATAGCCAAGGATGTTGGC	0.564									Smith-Lemli-Opitz syndrome				---	40	---	---	25	---					
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	-	-			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr11:76506673_76506675delCTG	uc021qno.1	+	0	13_15	c.13_15delCTG	c.(13-15)ctgdel	p.L9del	TSKU_uc001oxt.3_In_Frame_Del_p.L9del	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.	9						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616													---	54	---	---	7	---					
RECQL	5965	broad.mit.edu	37	12	21639515	21639515	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr12:21639515delA	uc001rex.3	-	5	747	c.399delT	c.(397-399)tttfs	p.F133fs	RECQL_uc001rey.3_Frame_Shift_Del_p.F133fs	NM_032941	NP_116559	P46063	RECQ1_HUMAN	Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA.	133	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TGACGAGTGTAAAACCTAAAA	0.294								Other identified genes with known or suspected DNA repair function					---	30	---	---	7	---					
CCNF	899	broad.mit.edu	37	16	2493679	2493680	+	In_Frame_Ins	INS	-	AAC	AAC			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr16:2493679_2493680insAAC	uc002cqd.1	+	8	895_896	c.807_808insAAC	c.(805-810)insAAC	p.270_271insN	CCNF_uc002cqe.1_5'UTR	NM_001761	NP_001752	P41002	CCNF_HUMAN	Homo sapiens cyclin F (CCNF), mRNA.	270					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)				GTGCAAATGCAAACCAGCTTGG	0.485													---	64	---	---	32	---					
MUC16	94025	broad.mit.edu	37	19	9064536	9064536	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:9064536delT	uc002mkp.3	-	2	23114	c.22910delA	c.(22909-22911)aatfs	p.N7637fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7639	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						TGTGTTCAAATTAAGGGTACT	0.483													---	7	---	---	58	---					
FCGBP	8857	broad.mit.edu	37	19	40376854	40376856	+	In_Frame_Del	DEL	CTT	-	-			TCGA-FS-A1Z3-06A-11D-A197-08	TCGA-FS-A1Z3-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7bdec899-4455-4bfc-8d68-2a30c123f6eb	0e60cc76-c521-43f9-ab13-4e63e7b72919	g.chr19:40376854_40376856delCTT	uc002omp.4	-	23	11574_11576	c.11566_11568delAAG	c.(11566-11568)aagdel	p.K3856del		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	3856	VWFD 9.					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)			CCTTCTGATACTTCTTCTCCAGC	0.655													---	14	---	---	11	---